Q5TCI8 · Q5TCI8_HUMAN
- ProteinLamin A/C
- GeneLMNA
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids491 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV100738658 | 8 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156126824G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156126824G>T Locations: - p.Gly8Trp (cosmic curated:ENST00000368297) - c.22G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
RCV002224332 RCV004700694 rs1048086299 | 23 | Q>* | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156126869C>T Consequence type: stop gained Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156126869C>T Locations: - p.Gln23Ter (ClinVar:ENST00000368297) Source type: large scale study | |||||||
RCV001767070 rs888010397 | 27 | W>* | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000001.11:g.156126883G>A Consequence type: stop gained Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156126883G>A Locations: - p.Trp27Ter (ClinVar:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61543001 | 32 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156126897C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156126897C>T Locations: - p.Ala32Val (cosmic curated:ENST00000368297) - c.95C>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
RCV001700802 RCV001724387 rs148559653 | 33 | K>R | Benign (ClinVar) | ClinVar dbSNP | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00579 (ClinVar) Accession: NC_000001.11:g.156126900A>G Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156126900A>G Locations: - p.Lys33Arg (ClinVar:ENST00000368297) Source type: large scale study | |||||||
COSV100738835 | 37 | P>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156126911C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156126911C>G Locations: - p.Pro37Ala (cosmic curated:ENST00000368297) - c.109C>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA018007 RCV000182374 RCV000208440 RCV001852313 rs794728597 | 42 | K>missing | Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Likely pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156130624AAG[1] Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130624AAG[1] Locations: - p.Lys42del (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
CM078079 COSV100738642 rs1406523929 | 44 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000007955 (gnomAD) Accession: NC_000001.11:g.156130634G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130634G>C Locations: - p.G44A (NCI-TCGA:ENST00000368297) - p.Gly44Ala (cosmic curated:ENST00000368297) - c.131G>C (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: - NCI-TCGA: CM078079 | |||||||
COSV100738847 RCV001961165 rs1351159308 | 45 | D>N | Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000001.11:g.156130636G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130636G>A Locations: - p.Asp45Asn (cosmic curated:ENST00000368297) - c.133G>A (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
CA018019 RCV000182386 rs794728605 | 47 | I>missing | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156130641_156130643delinsTGGTCACCTGAGAG Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130641_156130643delinsTGGTCACCTGAGAG Locations: - p.Ile47fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
COSV100738450 | 47 | I>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130643T>A Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130643T>A Locations: - p.I47K (NCI-TCGA:ENST00000368297) - p.Ile47Lys (cosmic curated:ENST00000368297) - c.140T>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61543608 | 53 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130660C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156130660C>A Locations: - p.Leu53Met (cosmic curated:ENST00000368297) - c.157C>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CM0910022 COSV61542252 | 55 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130666G>A Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130666G>A Locations: - p.D55N (NCI-TCGA:ENST00000368297) - p.Asp55Asn (cosmic curated:ENST00000368297) - c.163G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: - NCI-TCGA: CM0910022 | |||||||
COSV100738510 | 56 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130669C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156130669C>A Locations: - p.Leu56Met (cosmic curated:ENST00000368297) - c.166C>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61542004 | 59 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130678C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156130678C>A Locations: - p.Leu59Met (cosmic curated:ENST00000368297) - c.175C>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA658656963 RCV000558114 rs1553264615 | 63 | K>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156130690_156130692del Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130690_156130692del Locations: - p.Lys63del (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
COSV100738700 | 65 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130697C>T Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130697C>T Locations: - p.A65V (NCI-TCGA:ENST00000368297) - p.Ala65Val (cosmic curated:ENST00000368297) - c.194C>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61542027 RCV001307001 RCV004005039 rs139875047 | 66 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Likely pathogenic (Ensembl) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000007996 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156130699G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130699G>A Locations: - p.A66T (NCI-TCGA:ENST00000368297) - p.Ala66Thr (cosmic curated:ENST00000368297) - c.196G>A (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
COSV108189916 | 66 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130700C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156130700C>T Locations: - p.Ala66Val (cosmic curated:ENST00000368297) - c.197C>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV100738538 | 73 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130720G>A Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130720G>A Locations: - p.E73K (NCI-TCGA:ENST00000368297) - p.Glu73Lys (cosmic curated:ENST00000368297) - c.217G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61542468 | 74 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130725G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156130725G>T Locations: - p.Lys74Asn (cosmic curated:ENST00000368297) - c.222G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA645372476 RCV000501769 rs1553264624 | 74-79 | KR>S | Muscular dystrophy (ClinVar) | Likely pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: - Somatic: No Accession: NC_000001.11:g.156130724_156130738del Consequence type: - Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130724_156130738del Locations: - p.Lys74_Gly79delinsSer (ClinVar:ENST00000368297) Disease association: - Muscular dystrophy Source type: large scale study | |||||||
RCV001345820 RCV002336451 RCV002485202 rs760743233 | 75 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.000008169 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000001.11:g.156130726C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130726C>T Locations: - p.R75C (NCI-TCGA:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
COSV100738859 COSV61544149 RCV001526029 RCV001873686 RCV002224087 RCV002334576 RCV002488345 RCV003331176 RCV004008887 rs764475194 | 75 | R>H | Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000004106 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000001.11:g.156130727G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130727G>A Locations: - p.R75H (NCI-TCGA:ENST00000368297) - p.Arg75His (cosmic curated:ENST00000368297) - c.224G>A (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study Cross-references: | |||||||
COSV61544149 | 75 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130727G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156130727G>T Locations: - p.Arg75Leu (cosmic curated:ENST00000368297) - c.224G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61543956 | 77 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130732C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156130732C>G Locations: - p.Leu77Val (cosmic curated:ENST00000368297) - c.229C>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA10576366 RCV000223332 rs876657650 | 78 | E>missing | Primary dilated cardiomyopathy (ClinVar) | Likely pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156130736del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130736del Locations: - p.Glu78fs (ClinVar:ENST00000368297) Disease association: - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
CA018144 CM085515 RCV000041352 RCV000057410 rs267607594 | 81 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Primary dilated cardiomyopathy (ClinVar) | Likely pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156130745T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130745T>C Locations: - p.L81P (NCI-TCGA:ENST00000368297) Disease association: - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: - NCI-TCGA: CM085515 | |||||||
CA018161 CM082919 COSV100738529 RCV000150939 RCV000653861 RCV000732765 RCV000771896 RCV002336298 RCV002505147 RCV003998206 rs267607570 | 85 | R>Q | Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl) | ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.0008 (1000Genomes) - MAF: 0.0008 (ClinVar) Accession: NC_000001.11:g.156130757G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130757G>A Locations: - p.R85Q (NCI-TCGA:ENST00000368297) - p.Arg85Gln (cosmic curated:ENST00000368297) - c.254G>A (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study Cross-references: - NCI-TCGA: CM082919 | |||||||
CA018179 RCV000057505 rs267607595 | 88 | V>missing | ClinGen ClinVar dbSNP | ||||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156130766del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130766del Locations: - p.Val88fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
COSV105905869 | 88 | V>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130766T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156130766T>A Locations: - p.Val88Glu (cosmic curated:ENST00000368297) - c.263T>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA018211 RCV000182387 RCV003996717 rs794728606 | 94 | A>missing | Primary dilated cardiomyopathy (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134411del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134411del Locations: - p.Ala94fs (ClinVar:ENST00000368297) Disease association: - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
RCV001381551 rs2102878324 | 94-95 | AL>* | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.156134415del Consequence type: stop gained Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134415del Locations: - p.Ala94_Leu95insTer (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
COSV61542830 | 96 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134419G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156134419G>T Locations: - p.Gly96Val (cosmic curated:ENST00000368297) - c.287G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
RCV000789002 rs1572358674 | 104 | D>missing | Primary dilated cardiomyopathy (ClinVar) | Likely pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134444_156134445del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134444_156134445del Locations: - p.Asp104fs (ClinVar:ENST00000368297) Disease association: - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
CA014940 COSV61542398 RCV000057417 RCV000148603 RCV000794744 RCV001177403 RCV001775077 RCV002345365 RCV002477186 rs267607626 | 108 | R>W | Cardiomyopathy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000001.11:g.156134454C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134454C>T Locations: - p.Arg108Trp (cosmic curated:ENST00000368297) - c.322C>T (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study Cross-references: | |||||||
CA020794 RCV000057420 rs267607628 | 109 | R>RR | ClinGen ClinVar dbSNP | ||||
Consequence: insertion Somatic: No Accession: NC_000001.11:g.156134454CGG[3] Consequence type: insertion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134454CGG[3] Locations: - p.Arg109dup (ClinVar:ENST00000368297) Source type: large scale study | |||||||
CA018281 RCV000182388 rs794728607 | 115 | R>missing | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134475_156134485del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134475_156134485del Locations: - p.Arg115fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
CA018285 RCV000057426 rs267607541 | 115-118 | RL>S | ClinGen ClinVar dbSNP | ||||
Consequence: - Somatic: No Accession: NC_000001.11:g.156134477_156134485del Consequence type: - Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134477_156134485del Locations: - p.Arg115_Thr118delinsSer (ClinVar:ENST00000368297) Source type: large scale study | |||||||
COSV61542771 | 116 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134478C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156134478C>A Locations: - p.Leu116Met (cosmic curated:ENST00000368297) - c.346C>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA16609887 RCV000460325 rs1060502210 | 122 | E>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156134492GGA[1] Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134492GGA[1] Locations: - p.Glu122del (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
RCV001071612 rs1651352665 | 123 | L>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134500del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134500del Locations: - p.Leu123fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
VAR_072817 CA018013 RCV000057396 RCV001182171 rs267607605 | 125 | G>S | found in patients with atrial fibrillation; uncertain significance (UniProt) Cardiomyopathy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156130633G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130633G>A Locations: - p.Gly125Ser (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) Source type: mixed Cross-references: | |||||||
COSV61542390 | 127 | K>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134512A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156134512A>C Locations: - p.Lys127Thr (cosmic curated:ENST00000368297) - c.380A>C (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA018324 RCV000015588 RCV000057433 rs267607540 | 127 | K>missing | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156134510GAA[1] Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134510GAA[1] Locations: - p.Lys127del (ClinVar:ENST00000368297) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: large scale study Cross-references: | |||||||
CA018329 RCV000057434 rs62636507 | 128 | N>missing | Likely pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134515del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134515del Locations: - p.Asn128fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
RCV001952837 rs2102879250 | 128 | N>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134512_156134515dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134512_156134515dup Locations: - p.Asn128fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
COSV61542087 | 129 | I>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134517A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156134517A>T Locations: - p.Ile129Phe (cosmic curated:ENST00000368297) - c.385A>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61542087 COSV61544011 | 129 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134517A>G Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134517A>G Locations: - p.I129V (NCI-TCGA:ENST00000368297) - p.Ile129Val (cosmic curated:ENST00000368297) - c.385A>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
RCV001994759 RCV004641839 rs2102879360 | 132 | E>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134525_156134526dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134525_156134526dup Locations: - p.Glu132fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
VAR_016913 CA018044 CM012998 CM032006 COSV100738901 RCV000015577 RCV000015578 RCV000057399 RCV001387326 rs60864230 | 133 | R>L | FPLD2 (UniProt) Familial partial lipodystrophy, Dunnigan type (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Charcot-Marie-Tooth disease type 2 (ClinVar) Hutchinson-Gilford progeria syndrome, childhood-onset (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130658G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130658G>T Locations: - p.Arg133Leu (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Familial partial lipodystrophy, Dunnigan type - Hutchinson-Gilford progeria syndrome, childhood-onset - Lipodystrophy, familial partial, 2 (FPLD2) Source type: mixed Cross-references: - NCI-TCGA: CM012998 - NCI-TCGA: CM032006 | |||||||
VAR_017657 CA018038 RCV000015602 RCV000057398 RCV000686691 rs60864230 | 133 | R>P | EDMD2 (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156130658G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130658G>C Locations: - p.Arg133Pro (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed | |||||||
CA018379 CM132943 COSV105905866 RCV000182360 RCV000208531 RCV000241819 RCV000528116 RCV000725540 RCV001778774 rs794728591 | 135 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Primary dilated cardiomyopathy (ClinVar) Primary familial dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003983 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156134811C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134811C>T Locations: - p.R135C (NCI-TCGA:ENST00000368297) - p.Arg135Cys (cosmic curated:ENST00000368297) - c.403C>T (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Laminopathy - Primary dilated cardiomyopathy (DCM) - Primary familial dilated cardiomyopathy (FDC) Source type: large scale study Cross-references: - NCI-TCGA: CM132943 | |||||||
RCV001325240 rs1651388987 | 135-140 | RE>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | ||
Consequence: insertion Somatic: No Accession: NC_000001.11:g.156134812_156134829dup Consequence type: insertion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134812_156134829dup Locations: - p.Arg135_Arg140dup (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
VAR_070175 CA018066 COSV108189980 RCV000057401 rs267607649 | 138 | E>K | HGPS (UniProt) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156130672G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130672G>A Locations: - p.Glu138Lys (UniProt:P02545) Disease association: - Hutchinson-Gilford progeria syndrome (HGPS) Source type: mixed | |||||||
COSV104659377 | 138 | K>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134821A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156134821A>T Locations: - p.Lys138Met (cosmic curated:ENST00000368297) - c.413A>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
RCV001062157 RCV001181352 RCV002365743 RCV002462304 RCV003989636 RCV004000123 rs780066296 | 139 | R>H | Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001591 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000001.11:g.156134824G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134824G>A Locations: - p.R139H (NCI-TCGA:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Congenital muscular dystrophy due to LMNA mutation - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
COSV100738716 RCV001222732 RCV002366000 RCV003132287 rs372567202 | 140 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001591 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156134827G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134827G>A Locations: - p.R140H (NCI-TCGA:ENST00000368297) - p.Arg140His (cosmic curated:ENST00000368297) - c.419G>A (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
VAR_039760 CA018070 RCV000057402 RCV001854176 rs60652225 | 140 | L>P | EDMD2 (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156130679T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130679T>C Locations: - p.Leu140Pro (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
VAR_017658 CA018076 RCV000015601 RCV000057403 rs60652225 | 140 | L>R | HGPS; phenotype originally designated as atypical Werner syndrome (UniProt) Hutchinson-Gilford progeria syndrome, childhood-onset (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156130679T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130679T>G Locations: - p.Leu140Arg (UniProt:P02545) Disease association: - Hutchinson-Gilford progeria syndrome (HGPS) - Hutchinson-Gilford progeria syndrome, childhood-onset Source type: mixed Cross-references: | |||||||
VAR_034707 CA018089 RCV000015604 RCV000057405 rs58912633 | 143 | S>F | HGPS (UniProt) Congenital muscular dystrophy due to LMNA mutation (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156130688C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130688C>T Locations: - p.Ser143Phe (UniProt:P02545) Disease association: - Congenital muscular dystrophy due to LMNA mutation - Hutchinson-Gilford progeria syndrome (HGPS) Source type: mixed Cross-references: | |||||||
VAR_039761 CA018081 RCV000057404 RCV001258042 RCV001387327 RCV003996511 rs61661343 | 143 | S>P | CMD1A (UniProt) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156130687T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130687T>C Locations: - p.Ser143Pro (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
CA018429 COSV61543425 RCV000056001 RCV000057442 RCV000194831 RCV000211792 RCV000464494 RCV001170453 RCV002362662 rs60682848 | 144 | R>* | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Cardiomyopathy (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156134838C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134838C>T Locations: - p.Arg144Ter (cosmic curated:ENST00000368297) - c.430C>T (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
VAR_017659 CA018095 RCV000015596 RCV000057406 RCV000192009 rs60310264 | 145 | E>K | HGPS; atypical (UniProt) Hutchinson-Gilford syndrome (ClinVar) Hutchinson-Gilford progeria syndrome, atypical (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156130693G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130693G>A Locations: - p.Glu145Lys (UniProt:P02545) Disease association: - Hutchinson-Gilford progeria syndrome (HGPS) - Hutchinson-Gilford progeria syndrome, atypical - Hutchinson-Gilford syndrome (HGPS) Source type: mixed | |||||||
COSV100738424 rs1651395903 | 146 | V>M | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134844G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134844G>A Locations: - p.Val146Met (cosmic curated:ENST00000368297) - c.436G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CM070191 COSV61543543 | 149 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134853G>T Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134853G>T Locations: - p.D149Y (NCI-TCGA:ENST00000368297) - p.Asp149Tyr (cosmic curated:ENST00000368297) - c.445G>T (cosmic curated:ENST00000368297) Source type: large scale study | |||||||
COSV100738884 | 150 | N>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134856A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156134856A>G Locations: - p.Asn150Asp (cosmic curated:ENST00000368297) - c.448A>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_039762 CA018114 RCV000041350 RCV000057407 RCV001265661 RCV001852841 rs58917027 | 150 | T>P | EDMD2 (UniProt) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Inborn genetic diseases (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156130708A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130708A>C Locations: - p.Thr150Pro (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Inborn genetic diseases - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
COSV61543438 RCV001058570 RCV001191296 RCV001199337 RCV001760011 RCV002374941 RCV002482029 RCV004000103 rs760388350 | 150 | N>S | Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000007954 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156134857A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134857A>G Locations: - p.N150S (NCI-TCGA:ENST00000368297) - p.Asn150Ser (cosmic curated:ENST00000368297) - c.449A>G (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study Cross-references: | |||||||
COSV61543686 RCV001878144 RCV004010776 rs201227908 | 154 | R>C | Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000001.11:g.156134868C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134868C>T Locations: - p.Arg154Cys (cosmic curated:ENST00000368297) - c.460C>T (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
CA054163 RCV000474484 RCV000482181 RCV001180110 RCV004000798 RCV004639243 rs759829161 | 154 | R>H | Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.000007954 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000001.11:g.156134869G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134869G>A Locations: - p.R154H (NCI-TCGA:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
RCV001206410 rs1651401067 | 155 | E>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134870del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134870del Locations: - p.Glu155fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
RCV000852406 RCV002363199 rs1572359848 | 157 | E>missing | Primary dilated cardiomyopathy (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134876_156134894delinsCC Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134876_156134894delinsCC Locations: - p.Glu157fs (ClinVar:ENST00000368297) Disease association: - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
COSV61543063 | 157 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134877G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156134877G>A Locations: - p.Glu157Lys (cosmic curated:ENST00000368297) - c.469G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61542939 | 160 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134887T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156134887T>C Locations: - p.Leu160Pro (cosmic curated:ENST00000368297) - c.479T>C (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_017660 CA018140 RCV000015598 RCV000057409 RCV000211788 RCV000687241 RCV001170451 RCV003318333 RCV004018635 rs28933093 | 161 | E>K | CMD1A (UniProt) Cardiomyopathy (ClinVar) Long QT syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156130741G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130741G>A Locations: - p.Glu161Lys (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Long QT syndrome (LQTS) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
COSV61543947 rs1572359925 | 162 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated Ensembl | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134893A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134893A>G Locations: - p.D162G (NCI-TCGA:ENST00000368297) - p.Asp162Gly (cosmic curated:ENST00000368297) - c.485A>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61543056 rs1165819867 | 162 | D>N | Likely pathogenic (Ensembl) | cosmic curated TOPMed | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134892G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134892G>A Locations: - p.Asp162Asn (cosmic curated:ENST00000368297) - c.484G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA658795528 RCV000653919 rs1553265328 | 163 | A>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134894dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134894dup Locations: - p.Ala163fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
VAR_070176 CA018166 RCV000057411 RCV000503619 RCV000556738 RCV000620401 RCV003993783 rs267607570 | 166 | R>P | CMD1A; dramatically aberrant localization with almost no nuclear rim staining and formation of intranuclear foci (UniProt) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0008 (ClinVar) Accession: NC_000001.11:g.156130757G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156130757G>C Locations: - p.Arg166Pro (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
RCV000800239 rs1572359991 | 166-168 | ELR>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156134905_156134913del Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134905_156134913del Locations: - p.Glu166_Arg168del (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
COSV61542460 RCV000824244 RCV001524414 RCV003307564 rs1572360042 | 169 | A>T | Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134913G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134913G>A Locations: - p.A169T (NCI-TCGA:ENST00000368297) - p.Ala169Thr (cosmic curated:ENST00000368297) - c.505G>A (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
COSV61543503 | 170 | Q>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134917A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156134917A>G Locations: - p.Gln170Arg (cosmic curated:ENST00000368297) - c.509A>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA018586 RCV000041364 RCV003581569 rs397517908 | 174 | Q>missing | Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134928del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134928del Locations: - p.Gln174fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
CM135989 COSV61543641 | 175 | V>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134932T>G Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134932T>G Locations: - p.V175G (NCI-TCGA:ENST00000368297) - p.Val175Gly (cosmic curated:ENST00000368297) - c.524T>G (cosmic curated:ENST00000368297) Source type: large scale study | |||||||
COSV104417601 | 177 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134937C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156134937C>T Locations: - p.Gln177Ter (cosmic curated:ENST00000368297) - c.529C>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA018627 RCV000041365 RCV000057458 RCV001216146 RCV003298080 rs58978449 | 180 | K>missing | Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156134943AAG[1] Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134943AAG[1] Locations: - p.Lys180del (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
CA10602762 RCV000353946 rs886041211 | 181 | E>missing | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156134949del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134949del Locations: - p.Glu181fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
CA645372477 RCV000503550 RCV002527264 rs1553265369 | 183 | E>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) Muscular dystrophy (ClinVar) | Likely pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156134955_156134957del Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134955_156134957del Locations: - p.Glu183del (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Muscular dystrophy Source type: large scale study Cross-references: | |||||||
CA658795530 RCV000653871 rs1553265371 | 184 | K>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156134956AGA[1] Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134956AGA[1] Locations: - p.Lys184del (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
RCV002001266 RCV003130660 rs2102882045 | 186 | Y>YY | Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | ||
Consequence: insertion Somatic: No Accession: NC_000001.11:g.156134965_156134967dup Consequence type: insertion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134965_156134967dup Locations: - p.Tyr186dup (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
VAR_039763 CA018251 CM050658 CM1414666 COSV61542038 RCV000057421 RCV000619042 RCV000653887 RCV000768712 RCV001449792 RCV003447483 rs267607571 | 190 | R>Q | EDMD2 and CMD1A; aberrant localization with decreased nuclear rim staining and increased formation of intranuclear foci (UniProt) Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134458G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134458G>A Locations: - p.Arg190Gln (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Primary dilated cardiomyopathy (DCM) Source type: mixed Cross-references: - NCI-TCGA: CM050658 - NCI-TCGA: CM1414666 | |||||||
COSV61543097 | 190 | L>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135188T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156135188T>G Locations: - p.Leu190Arg (cosmic curated:ENST00000368297) - c.569T>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_039764 CA018245 RCV000057419 RCV000491585 RCV000535082 RCV000619878 RCV003996512 RCV004528262 rs59026483 | 190 | R>W | CMD1A (UniProt) LMNA-related disorder (ClinVar) Dilated cardiomyopathy 1S (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156134457C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134457C>T Locations: - p.Arg190Trp (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1S (CMD1S) - LMNA-related disorder - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
CA018736 RCV000057472 rs267607616 | 191 | D>missing | ClinGen ClinVar dbSNP | ||||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135191_156135194delinsCCAGAC Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135191_156135194delinsCCAGAC Locations: - p.Asp191fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
COSV61542069 | 191 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135190G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156135190G>T Locations: - p.Asp191Tyr (cosmic curated:ENST00000368297) - c.571G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_039765 CA018258 RCV000057422 RCV001221401 rs57045855 | 192 | D>G | CMD1A; dramatically increases the size of intranuclear speckles and reduces their number; this phenotype is only partially reversed by coexpression of the G-192 mutation and wild-type lamin-C; precludes insertion of lamin-C into the nuclear envelope when co-transfected with the G-192 LMNA; G-192 lamin-C expression totally disrupts the SUMO1 pattern (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000001.11:g.156134464A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134464A>G Locations: - p.Asp192Gly (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 Source type: mixed | |||||||
RCV001953733 RCV002492131 rs2102883169 | 194 | R>missing | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135198del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135198del Locations: - p.Arg194fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
VAR_009977 CA018275 RCV000015572 RCV000057425 RCV000211789 RCV000794743 rs28933091 | 195 | N>K | CMD1A; dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type (UniProt) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134474C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134474C>G Locations: - p.Asn195Lys (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
CA342817513 COSV61543118 RCV000503745 RCV001382395 rs1553265433 | 197 | A>P | Charcot-Marie-Tooth disease type 2 (ClinVar) Muscular dystrophy (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135208G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135208G>C Locations: - p.Ala197Pro (cosmic curated:ENST00000368297) - c.589G>C (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Muscular dystrophy Source type: large scale study | |||||||
CA16617000 RCV000483218 rs1064794966 | 198 | E>missing | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135211del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135211del Locations: - p.Glu198fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
COSV105259565 RCV001170454 RCV001873571 RCV004000272 rs1651446094 | 198 | E>K | Cardiomyopathy (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156135211G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135211G>A Locations: - p.Glu198Lys (cosmic curated:ENST00000368297) - c.592G>A (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
CA645372479 RCV000500127 rs1553265436 | 199-200 | RN>missing | Muscular dystrophy (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156135216_156135221del Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135216_156135221del Locations: - p.Arg199_Asn200del (ClinVar:ENST00000368297) Disease association: - Muscular dystrophy Source type: large scale study | |||||||
VAR_009978 CA018298 RCV000015573 RCV000057428 RCV000211791 RCV003581565 rs28933092 | 203 | E>G | CMD1A; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; decreased sumoylation; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; results in increased cell death (UniProt) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134497A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134497A>G Locations: - p.Glu203Gly (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
VAR_039767 CA018291 RCV000055999 RCV000057427 RCV000211790 RCV000618699 RCV000653912 RCV001824588 rs61195471 | 203 | E>K | CMD1A; decreased sumoylation; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; results in increased cell death (UniProt) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134496G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134496G>A Locations: - p.Glu203Lys (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
COSV61543416 | 205 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135233G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156135233G>A Locations: - p.Gly205Glu (cosmic curated:ENST00000368297) - c.614G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
RCV000803599 rs59564495 | 205 | G>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Likely pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156135233_156135235del Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135233_156135235del Locations: - p.Gly205del (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
CA018752 RCV000182389 RCV000208368 rs59564495 | 206 | A>missing | Primary dilated cardiomyopathy (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135235del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135235del Locations: - p.Ala206fs (ClinVar:ENST00000368297) Disease association: - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
VAR_064964 CA018318 RCV000057431 RCV000694277 RCV002354249 rs267607629 | 206 | F>L | EDMD2 (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134507C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134507C>G Locations: - p.Phe206Leu (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed | |||||||
COSV105259532 rs1221555471 | 206 | A>P | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135235G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135235G>C Locations: - p.Ala206Pro (cosmic curated:ENST00000368297) - c.616G>C (cosmic curated:ENST00000368297) Source type: large scale study | |||||||
COSV61542081 rs1221555471 | 206 | A>T | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135235G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135235G>A Locations: - p.Ala206Thr (cosmic curated:ENST00000368297) - c.616G>A (cosmic curated:ENST00000368297) Source type: large scale study | |||||||
CA018780 RCV000057476 RCV000790001 rs60168366 | 208 | H>missing | Charcot-Marie-Tooth disease (ClinVar) | Variant of uncertain significance (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135240_156135243del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135240_156135243del Locations: - p.His208fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease Source type: large scale study Cross-references: | |||||||
COSV106475480 | 208 | H>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135243C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156135243C>A Locations: - p.His208Gln (cosmic curated:ENST00000368297) - c.624C>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA018785 CM1410871 COSV100738929 RCV000041376 RCV000505709 RCV000692291 RCV002054813 rs397517912 | 209 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000001.11:g.156135244G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135244G>A Locations: - p.E209K (NCI-TCGA:ENST00000368297) - p.Glu209Lys (cosmic curated:ENST00000368297) - c.625G>A (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Myocarditis - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: - NCI-TCGA: CM1410871 | |||||||
VAR_070177 CA018335 RCV000041357 RCV000057435 rs267607572 | 210 | I>S | CMD1A; dramatically aberrant localization with almost no nuclear rim staining and increased formation of intranuclear foci (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134518T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134518T>G Locations: - p.Ile210Ser (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) Source type: mixed Cross-references: | |||||||
CA275309 RCV000178907 RCV000801276 rs797044758 | 215 | R>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135262_156135263insA Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135262_156135263insA Locations: - p.Arg215fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
COSV61543131 RCV000808152 RCV001188707 RCV002487736 RCV004001702 rs375987939 | 215 | R>C | Cardiomyopathy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ESP TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000001.11:g.156135262C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135262C>T Locations: - p.Arg215Cys (cosmic curated:ENST00000368297) - c.643C>T (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
COSV61544164 rs1024051591 | 215 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135263G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135263G>A Locations: - p.R215H (NCI-TCGA:ENST00000368297) - p.Arg215His (cosmic curated:ENST00000368297) - c.644G>A (cosmic curated:ENST00000368297) Source type: large scale study | |||||||
VAR_039768 CA018372 COSV100738907 RCV000056000 RCV000057438 RCV001382394 RCV002362688 rs61295588 | 215 | L>P | CMD1A; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134809T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134809T>C Locations: - p.Leu215Pro (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) Source type: mixed | |||||||
COSV61544280 RCV000702673 RCV002485734 rs762653476 | 217 | R>L | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000001.11:g.156135269G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135269G>T Locations: - p.Arg217Leu (cosmic curated:ENST00000368297) - c.650G>T (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
CA018845 RCV000057484 RCV000463447 RCV000490978 RCV000502542 RCV002371899 rs59684335 | 222 | S>missing | Dilated cardiomyopathy 1S (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135280CT[2] Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135280CT[2] Locations: - p.Ser222fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy 1S (CMD1S) Source type: large scale study | |||||||
VAR_039769 CA018421 RCV000057441 rs58034145 | 222 | H>P | EDMD2 (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134830A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134830A>C Locations: - p.His222Pro (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
VAR_009979 CA018412 RCV000015583 RCV000057440 RCV004577319 rs28928901 | 222 | H>Y | EDMD2 (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Emery-Dreifuss muscular dystrophy 3, autosomal recessive (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134829C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134829C>T Locations: - p.His222Tyr (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) Source type: mixed | |||||||
COSV100738437 | 223 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135286G>A Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135286G>A Locations: - p.A223T (NCI-TCGA:ENST00000368297) - p.Ala223Thr (cosmic curated:ENST00000368297) - c.667G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_067697 CA018437 COSV61543702 RCV000034134 RCV000190400 RCV001178806 RCV001384595 RCV001781340 RCV001814022 RCV003996150 rs199474724 | 225 | R>Q | EDMD3 (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Emery-Dreifuss muscular dystrophy 3, autosomal recessive (ClinVar) Cardiomyopathy (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134839G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134839G>A Locations: - p.Arg225Gln (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
RCV001932358 TCGA novel rs759249597 | 226 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar NCI-TCGA ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156135296G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135296G>A Locations: - p.S226N (NCI-TCGA:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV61542798 | 229 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135304C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156135304C>A Locations: - p.Gln229Lys (cosmic curated:ENST00000368297) - c.685C>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_039770 CA018460 RCV000015615 RCV000057443 rs61214927 | 230 | D>N | FPLD2 (UniProt) Familial partial lipodystrophy, Dunnigan type (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134853G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134853G>A Locations: - p.Asp230Asn (UniProt:P02545) Disease association: - Familial partial lipodystrophy, Dunnigan type - Lipodystrophy, familial partial, 2 (FPLD2) Source type: mixed Cross-references: | |||||||
VAR_039771 CA018472 RCV000057445 RCV000201054 RCV001052813 rs57207746 | 232 | G>E | EDMD2 (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134860G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134860G>A Locations: - p.Gly232Glu (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed | |||||||
CM1510386 COSV100738963 RCV000712227 RCV001098489 RCV001098490 RCV001098491 RCV001098492 RCV001098493 RCV001100254 RCV001100255 RCV001100256 RCV001100257 RCV001100258 RCV001188467 RCV001372393 RCV003999796 RCV004026818 rs1212920276 | 237 | A>V | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules (ClinVar) Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Emery-Dreifuss muscular dystrophy (ClinVar) Charcot-Marie-Tooth disease type 2B1 (ClinVar) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Lethal tight skin contracture syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Familial partial lipodystrophy, Dunnigan type (ClinVar) Hutchinson-Gilford syndrome (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Mandibuloacral dysplasia with type A lipodystrophy (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000008041 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156135917C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135917C>T Locations: - p.A237V (NCI-TCGA:ENST00000368297) - p.Ala237Val (cosmic curated:ENST00000368297) - c.710C>T (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy (EDMD) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Familial partial lipodystrophy, Dunnigan type - Hutchinson-Gilford syndrome (HGPS) - Lethal tight skin contracture syndrome - Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: - NCI-TCGA: CM1510386 | |||||||
CA018896 RCV000041381 RCV000236709 RCV001069384 rs397517915 | 239 | L>missing | Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135922del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135922del Locations: - p.Leu239fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
CA018901 RCV000015581 RCV000057492 RCV000681609 rs56771886 | 240 | R>missing | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135924del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135924del Locations: - p.Arg240fs (ClinVar:ENST00000368297) Disease association: - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: large scale study Cross-references: | |||||||
CA018909 COSV61543148 RCV000041382 RCV000057493 RCV000619789 RCV000686618 RCV002265579 RCV002483029 rs267607554 | 240 | R>* | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Primary familial dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156135925C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135925C>T Locations: - p.Arg240Ter (cosmic curated:ENST00000368297) - c.718C>T (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Primary familial dilated cardiomyopathy (FDC) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
RCV001995641 RCV002265057 RCV004042485 rs1180922815 | 240 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156135926G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135926G>A Locations: - p.R240Q (NCI-TCGA:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
CA10581126 RCV000223918 rs876661352 | 242 | L>missing | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135931_156135932del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135931_156135932del Locations: - p.Leu242fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
CA306282 RCV000182390 rs794728609 | 244 | D>missing | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135937dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135937dup Locations: - p.Asp244fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
COSV61542762 | 244 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135937G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156135937G>A Locations: - p.Asp244Asn (cosmic curated:ENST00000368297) - c.730G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
RCV001972552 rs2102887031 | 246 | L>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135944_156135959del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135944_156135959del Locations: - p.Leu246fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
CA658795532 RCV000599487 rs1553265630 | 246 | L>missing | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135942dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135942dup Locations: - p.Leu246fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
CA018921 RCV000182391 RCV001382584 rs794728610 | 246 | L>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135942_156135943del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135942_156135943del Locations: - p.Leu246fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
RCV001009060 rs1572362631 | 247 | A>missing | Likely pathogenic (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135947_156135960delinsAGG Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135947_156135960delinsAGG Locations: - p.Ala247fs (ClinVar:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA342820127 COSV61542351 RCV000657946 RCV000692895 RCV001178642 RCV003160061 RCV004002468 rs775159300 | 248 | R>C | Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000004001 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156135949C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135949C>T Locations: - p.R248C (NCI-TCGA:ENST00000368297) - p.Arg248Cys (cosmic curated:ENST00000368297) - c.742C>T (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
CA018926 COSV100738465 RCV000041377 RCV000590942 RCV001181115 RCV001852843 RCV002477128 RCV003226901 rs397517913 | 248 | R>H | Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00002 (gnomAD) - MAF: 0.00003 (ClinVar) Accession: NC_000001.11:g.156135950G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135950G>A Locations: - p.R248H (NCI-TCGA:ENST00000368297) - p.Arg248His (cosmic curated:ENST00000368297) - c.743G>A (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study Cross-references: | |||||||
VAR_039772 CA018545 RCV000057451 RCV002381369 rs58850446 | 248 | L>P | EDMD2 (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134908T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134908T>C Locations: - p.Leu248Pro (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
VAR_009980 CA018567 RCV000057453 RCV000201012 RCV000496185 RCV000501991 RCV000548477 RCV000662104 RCV001814042 RCV003230389 RCV004018991 rs59332535 | 249 | R>Q | EDMD2; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients; no effect on protein level (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Cardiomyopathy (ClinVar) Congenital muscular dystrophy (ClinVar) Charcot-Marie-Tooth disease type 2B1 (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) Muscular dystrophy (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134911G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134911G>A Locations: - p.Arg249Gln (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Muscular dystrophy Source type: mixed Cross-references: | |||||||
VAR_063589 CA018559 RCV000015621 RCV000057452 RCV000201142 RCV000814531 rs121912496 | 249 | R>W | MDCL and EDMD2; mislocalized in the nucleus; causes nuclear deformations and LMNB1 redistribution (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134910C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134910C>T Locations: - p.Arg249Trp (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Congenital muscular dystrophy due to LMNA mutation - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Muscular dystrophy congenital LMNA-related (MDCL) Source type: mixed | |||||||
CA658795533 RCV000653920 RCV001170980 rs1553265647 | 250 | R>missing | Cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135955_156135956del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135955_156135956del Locations: - p.Arg250fs (ClinVar:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
CA10584124 COSV61543943 RCV000236116 RCV001176603 RCV001857795 RCV002379039 RCV003227732 RCV003998898 rs879253898 | 250 | R>W | Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000012 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156135955C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135955C>T Locations: - p.R250W (NCI-TCGA:ENST00000368297) - p.Arg250Trp (cosmic curated:ENST00000368297) - c.748C>T (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study Cross-references: | |||||||
CA658656964 RCV000552796 RCV000778941 RCV002404566 rs1553265660 | 254 | R>missing | LMNA-related disorder (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135967del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135967del Locations: - p.Arg254fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - LMNA-related disorder Source type: large scale study Cross-references: | |||||||
COSV61543345 RCV001183937 RCV001876124 RCV002484004 RCV003314669 RCV004008421 rs1237093879 | 255 | R>W | Cardiomyopathy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000001.11:g.156135970C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135970C>T Locations: - p.Arg255Trp (cosmic curated:ENST00000368297) - c.763C>T (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
RCV002634077 rs756538414 COSV61543852 | 258 | A>V | Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (ClinVar) | ClinVar dbSNP cosmic curated | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135980C>T Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135980C>T Locations: - p.Ala258Val (ClinVar:ENST00000368297) - p.Ala258Val (cosmic curated:ENST00000368297) - c.773C>T (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
COSV61542876 RCV000812997 RCV001096835 RCV001096836 RCV001096837 RCV001096838 RCV001096839 RCV001096840 RCV001096841 RCV001096842 RCV001098596 RCV001102252 RCV001172615 RCV001189952 RCV001593004 RCV001823746 RCV002381813 RCV002507420 RCV004001748 rs749784223 | 262 | R>W | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules (ClinVar) Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Emery-Dreifuss muscular dystrophy (ClinVar) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Charcot-Marie-Tooth disease type 2B1 (ClinVar) Lethal tight skin contracture syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Familial partial lipodystrophy, Dunnigan type (ClinVar) Charcot-Marie-Tooth disease (ClinVar) Hutchinson-Gilford syndrome (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Mandibuloacral dysplasia with type A lipodystrophy (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Likely benign (Ensembl) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003983 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156135991C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135991C>T Locations: - p.R262W (NCI-TCGA:ENST00000368297) - p.Arg262Trp (cosmic curated:ENST00000368297) - c.784C>T (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy (EDMD) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Lethal tight skin contracture syndrome - Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study Cross-references: | |||||||
RCV000812458 rs1572362885 | 263 | E>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156135994del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135994del Locations: - p.Glu263fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
COSV61543253 | 265 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136000G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136000G>A Locations: - p.Ala265Thr (cosmic curated:ENST00000368297) - c.793G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV100738920 | 265 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136001C>T Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136001C>T Locations: - p.A265V (NCI-TCGA:ENST00000368297) - p.Ala265Val (cosmic curated:ENST00000368297) - c.794C>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_039774 CA018664 COSV61544146 RCV000057462 rs57048196 | 267 | Y>C | EDMD2 (UniProt) | Pathogenic (UniProt) | UniProt ClinGen cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156134965A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134965A>G Locations: - p.Tyr267Cys (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed | |||||||
VAR_064965 CA018671 RCV000057463 rs267607630 | 268 | S>P | EDMD2 (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156134967T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156134967T>C Locations: - p.Ser268Pro (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
CA016479 COSV100738834 RCV000057218 RCV000500548 RCV000653911 RCV000754811 RCV000845011 RCV002504959 RCV003996495 rs267607555 | 268 | R>W | Familial partial lipodystrophy, Dunnigan type (ClinVar) Monogenic diabetes (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136009C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136009C>T Locations: - p.Arg268Trp (cosmic curated:ENST00000368297) - c.802C>T (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Monogenic diabetes - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
COSV61542262 | 269 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136013C>T Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136013C>T Locations: - p.A269V (NCI-TCGA:ENST00000368297) - p.Ala269Val (cosmic curated:ENST00000368297) - c.806C>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61542161 rs779749639 | 270 | R>K | Variant of uncertain significance (Ensembl) | cosmic curated ExAC gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136016G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136016G>A Locations: - p.Arg270Lys (cosmic curated:ENST00000368297) - c.809G>A (cosmic curated:ENST00000368297) Source type: large scale study | |||||||
COSV61543815 | 270 | R>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136016G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136016G>T Locations: - p.Arg270Met (cosmic curated:ENST00000368297) - c.809G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_064966 CA018730 COSV61542703 RCV000057471 rs267607641 | 271 | L>P | EDMD2 (UniProt) | Pathogenic (UniProt) | UniProt ClinGen cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156135188T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135188T>C Locations: - p.Leu271Pro (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed | |||||||
CA016535 RCV000057224 rs267607635 | 274 | Q>missing | ClinGen ClinVar dbSNP | ||||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156136022AGC[2] Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136022AGC[2] Locations: - p.Gln274del (ClinVar:ENST00000368297) Source type: large scale study | |||||||
COSV61543913 | 275 | L>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136031T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136031T>A Locations: - p.Leu275Gln (cosmic curated:ENST00000368297) - c.824T>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA016573 RCV000057230 RCV000143910 rs58389804 | 282 | L>missing | Primary dilated cardiomyopathy (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136050del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136050del Locations: - p.Leu282fs (ClinVar:ENST00000368297) Disease association: - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
RCV001914806 rs2102887987 | 282 | L>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156136050_156136052del Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136050_156136052del Locations: - p.Leu282del (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
COSV100738813 | 290 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136077G>A Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136077G>A Locations: - p.M290I (NCI-TCGA:ENST00000368297) - p.Met290Ile (cosmic curated:ENST00000368297) - c.870G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA016606 RCV000041306 rs397517887 | 290-294 | ME>missing | Primary dilated cardiomyopathy (ClinVar) | Likely pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156136075_156136089del Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136075_156136089del Locations: - p.Met290_Ala294del (ClinVar:ENST00000368297) Disease association: - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
CA016624 RCV000057234 RCV001036248 rs267607575 | 291 | E>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136078del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136078del Locations: - p.Glu291fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
CA261950 RCV000041307 RCV000492959 RCV000805993 rs397517888 | 291 | E>missing | Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136076_156136079dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136076_156136079dup Locations: - p.Glu291fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
VAR_009982 CA018798 RCV000057477 rs61616775 | 294 | Q>P | EDMD2 (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156135257A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135257A>C Locations: - p.Gln294Pro (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
CA10584126 COSV61542191 RCV000235905 RCV001038975 RCV001256917 rs879254162 | 294 | A>T | Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar TOPMed dbSNP | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136087G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136087G>A Locations: - p.Ala294Thr (cosmic curated:ENST00000368297) - c.880G>A (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) Source type: large scale study | |||||||
COSV61544214 | 295 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136091A>G Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136091A>G Locations: - p.Y295C (NCI-TCGA:ENST00000368297) - p.Tyr295Cys (cosmic curated:ENST00000368297) - c.884A>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA342820546 CM123362 COSV100738869 RCV000493512 rs1131691263 | 295 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136090T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136090T>C Locations: - p.Y295H (NCI-TCGA:ENST00000368297) - p.Tyr295His (cosmic curated:ENST00000368297) - c.883T>C (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: - NCI-TCGA: CM123362 | |||||||
VAR_064967 CA018804 RCV000057478 RCV002444515 RCV002513741 rs267607633 | 295 | S>P | EDMD2 (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156135259T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135259T>C Locations: - p.Ser295Pro (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed | |||||||
CA016641 COSV61542211 RCV000041308 RCV000223811 RCV000469099 RCV000592134 RCV003236576 RCV003343619 RCV004546422 rs397517889 | 296 | R>C | Charcot-Marie-Tooth disease type 2B1 (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136093C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136093C>T Locations: - p.Arg296Cys (cosmic curated:ENST00000368297) - c.886C>T (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
CA217760 RCV000057232 rs267607624 | 297 | K>missing | ClinGen ClinVar dbSNP | ||||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136066_156136094dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136066_156136094dup Locations: - p.Lys297fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
VAR_017661 CA018809 COSV61543499 RCV000015590 RCV000057479 RCV000653885 RCV000826146 RCV000986429 RCV001176301 RCV002467495 RCV003162253 RCV003996100 rs59885338 | 298 | R>C | CMT2B1 (UniProt) Familial partial lipodystrophy, Dunnigan type (ClinVar) Cardiomyopathy (ClinVar) Autosomal recessive axonal hereditary motor and sensory neuropathy (ClinVar) Charcot-Marie-Tooth disease type 2B1 (ClinVar) Hutchinson-Gilford syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000001.11:g.156135268C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135268C>T Locations: - p.Arg298Cys (UniProt:P02545) Disease association: - Autosomal recessive axonal hereditary motor and sensory neuropathy - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Charcot-Marie-Tooth disease, axonal, 2B1 (CMT2B1) - Familial partial lipodystrophy, Dunnigan type - Hutchinson-Gilford syndrome (HGPS) - Primary dilated cardiomyopathy (DCM) Source type: mixed Cross-references: | |||||||
CA658795535 RCV000653874 rs1553265760 | 300 | E>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136106del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136106del Locations: - p.Glu300fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
VAR_070178 CA10575804 RCV000201431 rs79907212 | 300 | D>G | HGPS; atypical form with late onset; abnormal nuclear morphology with single or multple blebs, lobulation and occasional ringed or donut shaped nuclei (UniProt) Hutchinson-Gilford progeria syndrome, atypical (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156135275A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135275A>G Locations: - p.Asp300Gly (UniProt:P02545) Disease association: - Hutchinson-Gilford progeria syndrome (HGPS) - Hutchinson-Gilford progeria syndrome, atypical Source type: mixed Cross-references: | |||||||
COSV61543592 RCV001220492 RCV003129737 RCV003313994 rs1651580090 | 302 | E>K | Congenital muscular dystrophy due to LMNA mutation (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136111G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136111G>A Locations: - p.Glu302Lys (cosmic curated:ENST00000368297) - c.904G>A (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Congenital muscular dystrophy due to LMNA mutation Source type: large scale study | |||||||
VAR_063590 CA018833 RCV000057482 rs267607596 | 302 | L>P | MDCL (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156135281T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135281T>C Locations: - p.Leu302Pro (UniProt:P02545) Disease association: - Muscular dystrophy congenital LMNA-related (MDCL) Source type: mixed Cross-references: | |||||||
CA10584127 RCV000236295 rs879253913 | 303 | E>missing | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136114del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136114del Locations: - p.Glu303fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
VAR_064968 CA018839 RCV000057483 rs61527854 | 303 | S>P | EDMD2 (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156135283T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135283T>C Locations: - p.Ser303Pro (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
CA645372475 RCV000503663 RCV002281642 rs1553265761 | 304 | E>missing | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Muscular dystrophy (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156136111GAG[2] Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136111GAG[2] Locations: - p.Glu304del (ClinVar:ENST00000368297) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Muscular dystrophy Source type: large scale study Cross-references: | |||||||
CA016798 CM078695 COSV61543231 RCV000057250 RCV001854173 RCV003992172 RCV003996498 rs58133342 | 307 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000001.11:g.156136218C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136218C>T Locations: - p.R307C (NCI-TCGA:ENST00000368297) - p.Arg307Cys (cosmic curated:ENST00000368297) - c.919C>T (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Congenital muscular dystrophy due to LMNA mutation - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: - NCI-TCGA: CM078695 | |||||||
COSV61542951 | 307 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136219G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136219G>T Locations: - p.Arg307Leu (cosmic curated:ENST00000368297) - c.920G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA16609880 RCV000476791 RCV001753890 rs1553265793 | 307-312 | RL>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: insertion Somatic: No Accession: NC_000001.11:g.156136217_156136234dup Consequence type: insertion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136217_156136234dup Locations: - p.Arg307_Pro312dup (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
COSV100738723 | 308 | L>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136222T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136222T>G Locations: - p.Leu308Arg (cosmic curated:ENST00000368297) - c.923T>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA016823 CM077201 COSV61542231 RCV000057253 RCV000157294 RCV001056678 RCV002336206 RCV002483088 RCV003996499 rs267607561 | 314 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl) | ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001207 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136240C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136240C>T Locations: - p.S314L (NCI-TCGA:ENST00000368297) - p.Ser314Leu (cosmic curated:ENST00000368297) - c.941C>T (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study Cross-references: - NCI-TCGA: CM077201 | |||||||
VAR_039775 CA018878 RCV000041379 RCV000057489 RCV000560270 RCV000769726 RCV001000784 RCV001251293 RCV001775075 RCV002371856 RCV004541210 rs56816490 | 317 | E>K | CMD1A (UniProt) LMNA-related disorder (ClinVar) Cardiomyopathy (ClinVar) Primary dilated cardiomyopathy (ClinVar) Primary familial dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156135913G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135913G>A Locations: - p.Glu317Lys (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - LMNA-related disorder - Primary dilated cardiomyopathy (DCM) - Primary familial dilated cardiomyopathy (FDC) Source type: mixed Cross-references: | |||||||
CA016854 CM077197 COSV100738524 RCV000057256 RCV000550366 RCV001184773 RCV002336207 RCV003996500 rs267607563 | 318 | R>H | Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00002812 (gnomAD) - MAF: 0.00004 (ClinVar) Accession: NC_000001.11:g.156136252G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136252G>A Locations: - p.R318H (NCI-TCGA:ENST00000368297) - p.Arg318His (cosmic curated:ENST00000368297) - c.953G>A (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: - NCI-TCGA: CM077197 | |||||||
VAR_070179 CA018883 RCV000057491 RCV000852590 RCV001182567 RCV001303998 RCV002371900 rs267607574 | 318 | A>T | CMD1A; no effect on nuclear morphology and lamin A localization (UniProt) Cardiomyopathy (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156135916G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135916G>A Locations: - p.Ala318Thr (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
COSV61542238 | 322 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136264C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136264C>T Locations: - p.Ser322Phe (cosmic curated:ENST00000368297) - c.965C>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV108189910 | 323 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136267C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136267C>T Locations: - p.Ser323Phe (cosmic curated:ENST00000368297) - c.968C>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
RCV001381956 rs2102889960 | 330 | G>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136288del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136288del Locations: - p.Gly330fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
RCV001892814 rs2102889960 | 331 | G>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136288dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136288dup Locations: - p.Gly331fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
RCV001949620 RCV002361304 rs2102890051 | 332 | G>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136294del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136294del Locations: - p.Gly332fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
RCV001347945 RCV004005219 rs1350031185 | 332 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136294G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136294G>A Locations: - p.G332D (NCI-TCGA:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
VAR_009983 CA016433 RCV000057214 RCV000225878 RCV002426615 RCV002483086 RCV003996492 rs58105277 | 336 | R>Q | EDMD2 (UniProt) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156135971G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135971G>A Locations: - p.Arg336Gln (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: mixed | |||||||
RCV001390345 rs2102890220 | 337 | K>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136304del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136304del Locations: - p.Lys337fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
RCV001380635 rs2102890245 | 337 | K>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136309del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136309del Locations: - p.Lys337fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
CA049674 COSV61541931 RCV000549013 RCV001172620 RCV002420529 RCV002483493 RCV003999467 RCV004719873 rs777648901 | 338 | R>H | Charcot-Marie-Tooth disease (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000001.11:g.156136312G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136312G>A Locations: - p.Arg338His (cosmic curated:ENST00000368297) - c.1013G>A (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
RCV000788476 rs1572364243 | 340 | L>missing | Likely pathogenic (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136318_156136319del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136318_156136319del Locations: - p.Leu340fs (ClinVar:ENST00000368297) Source type: large scale study Cross-references: | |||||||
RCV000823653 TCGA novel rs1448275854 | 341 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar NCI-TCGA dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.156136320G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136320G>T Locations: - p.E341* (NCI-TCGA:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV61542289 | 341 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136321A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136321A>G Locations: - p.Glu341Gly (cosmic curated:ENST00000368297) - c.1022A>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_009984 CA016448 RCV000057215 RCV000691928 RCV001180075 RCV002483087 RCV003996493 rs61177390 | 343 | R>Q | EDMD2 (UniProt) Cardiomyopathy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000001.11:g.156135992G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156135992G>A Locations: - p.Arg343Gln (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: mixed | |||||||
RCV001390668 RCV004629160 rs1553265865 | 345 | S>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136330AG[1] Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136330AG[1] Locations: - p.Ser345fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
CA016936 COSV107422484 RCV000182369 RCV000653931 RCV001181813 RCV002381591 RCV002463440 RCV002492808 RCV003479048 RCV003996715 RCV004539704 rs373584456 | 346 | R>C | LMNA-related disorder (ClinVar) Cardiomyopathy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000001.11:g.156136335C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136335C>T Locations: - p.Arg346Cys (cosmic curated:ENST00000368297) - c.1036C>T (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - LMNA-related disorder - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study Cross-references: | |||||||
CA049726 COSV61544015 RCV000767210 RCV001221759 RCV002503919 RCV003998901 RCV004020920 rs747139279 | 346 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000001.11:g.156136336G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136336G>A Locations: - p.R346H (NCI-TCGA:ENST00000368297) - p.Arg346His (cosmic curated:ENST00000368297) - c.1037G>A (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
COSV61541897 | 347 | S>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136338A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136338A>T Locations: - p.Ser347Cys (cosmic curated:ENST00000368297) - c.1039A>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_039776 CA016488 RCV000057219 RCV001854172 RCV003343625 rs58789393 | 349 | R>L | CMD1A (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136010G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136010G>T Locations: - p.Arg349Leu (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 Source type: mixed | |||||||
COSV105259522 | 350 | S>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136348C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136348C>G Locations: - p.Ser350Ter (cosmic curated:ENST00000368297) - c.1049C>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA016966 RCV000156173 RCV001850150 rs267607577 | 352-353 | HA>* | Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.156136352GCAC[1] Consequence type: stop gained Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136352GCAC[1] Locations: - p.His352_Ala353insTer (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
COSV61542109 | 353 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136356G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136356G>T Locations: - p.Ala353Ser (cosmic curated:ENST00000368297) - c.1057G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61543660 RCV001869379 RCV002481764 rs748433620 | 353 | A>T | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000001.11:g.156136356G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136356G>A Locations: - p.Ala353Thr (cosmic curated:ENST00000368297) - c.1057G>A (cosmic curated:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
CA016983 RCV000057266 RCV000157296 RCV001257938 RCV001390100 rs267607577 | 356 | S>missing | Cardiomyopathy (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136352GCAC[4] Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136352GCAC[4] Locations: - p.Ser356fs (ClinVar:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
COSV100738562 rs766932100 | 357 | G>W | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136368G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136368G>T Locations: - p.Gly357Trp (cosmic curated:ENST00000368297) - c.1069G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_009985 CA016555 RCV000015622 RCV000015623 RCV000057227 RCV000470514 RCV000502108 RCV001420791 rs60458016 | 358 | E>K | EDMD2 and MDCL; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci when transfected in C2C12 myoblasts; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; interacts with itself and with wild-type LMNA and LMNB1; no effect on protein level (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Emery-Dreifuss muscular dystrophy (ClinVar) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Charcot-Marie-Tooth disease type 2 (ClinVar) Muscular dystrophy (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136036G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136036G>A Locations: - p.Glu358Lys (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Congenital muscular dystrophy due to LMNA mutation - Emery-Dreifuss muscular dystrophy (EDMD) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Muscular dystrophy - Muscular dystrophy congenital LMNA-related (MDCL) Source type: mixed | |||||||
CA016999 CM005398 RCV000015617 RCV000057268 RCV000552191 RCV001172618 RCV001186220 RCV001264435 RCV002381252 RCV003996102 rs121912493 | 359 | V>M | Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Charcot-Marie-Tooth disease (ClinVar) Mandibuloacral dysplasia with type A lipodystrophy, atypical (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000001.11:g.156136374G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136374G>A Locations: - p.V359M (NCI-TCGA:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease - Charcot-Marie-Tooth disease type 2 - Mandibuloacral dysplasia with type A lipodystrophy, atypical - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: - NCI-TCGA: CM005398 | |||||||
RCV001386995 rs2102890974 | 360 | A>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136377del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136377del Locations: - p.Ala360fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
COSV100738861 rs1460631717 | 360 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136378C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136378C>T Locations: - p.A360V (NCI-TCGA:ENST00000368297) - p.Ala360Val (cosmic curated:ENST00000368297) - c.1079C>T (cosmic curated:ENST00000368297) Source type: large scale study | |||||||
CA658795537 RCV000592854 rs1553265897 | 360-363 | AV>missing | Variant of uncertain significance (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156136378_156136389del Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136378_156136389del Locations: - p.Ala360_Glu363del (ClinVar:ENST00000368297) Source type: large scale study | |||||||
VAR_064970 CA016566 RCV000057229 RCV000504480 RCV001218431 rs267607634 | 361 | E>K | EDMD2 (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) Muscular dystrophy (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136045G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136045G>A Locations: - p.Glu361Lys (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Muscular dystrophy Source type: mixed | |||||||
CA049885 COSV100738432 RCV000621062 RCV000808964 RCV001096939 RCV001096940 RCV001096941 RCV001096942 RCV001096943 RCV001096944 RCV001096945 RCV001096946 RCV001102354 RCV001102355 RCV001190252 RCV001544605 RCV004002668 rs368542816 | 361 | V>M | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules (ClinVar) Cardiomyopathy (ClinVar) Emery-Dreifuss muscular dystrophy (ClinVar) Charcot-Marie-Tooth disease type 2B1 (ClinVar) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Lethal tight skin contracture syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Familial partial lipodystrophy, Dunnigan type (ClinVar) Hutchinson-Gilford syndrome (ClinVar) Mandibuloacral dysplasia with type A lipodystrophy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000001.11:g.156136380G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136380G>A Locations: - p.Val361Met (cosmic curated:ENST00000368297) - c.1081G>A (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy (EDMD) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Familial partial lipodystrophy, Dunnigan type - Hutchinson-Gilford syndrome (HGPS) - Lethal tight skin contracture syndrome - Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
COSV61541938 | 363 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136386G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136386G>T Locations: - p.Glu363Ter (cosmic curated:ENST00000368297) - c.1087G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
RCV001038918 rs1651638404 | 364-366 | VDE>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | ||
Consequence: insertion Somatic: No Accession: NC_000001.11:g.156136390_156136398dup Consequence type: insertion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136390_156136398dup Locations: - p.Val364_Glu366dup (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
VAR_009986 CA016617 RCV000057233 rs59653062 | 371 | M>K | EDMD2; dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136076T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136076T>A Locations: - p.Met371Lys (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
RCV001170982 rs1651642668 | 374 | R>missing | Cardiomyopathy (ClinVar) | Likely pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136418_156136419GC[1] Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136418_156136419GC[1] Locations: - p.Arg374fs (ClinVar:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) Source type: large scale study Cross-references: | |||||||
COSV108189913 RCV001190369 RCV001350407 RCV002379734 RCV002480633 RCV004010429 rs267607597 | 374 | R>H | Cardiomyopathy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136420G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136420G>A Locations: - p.Arg374His (cosmic curated:ENST00000368297) - c.1121G>A (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
CA017091 RCV000057280 RCV002513738 rs267607550 | 375 | N>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156136421CAA[1] Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136421CAA[1] Locations: - p.Asn375del (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
CA017113 RCV000057282 rs267607549 | 376 | K>missing | ClinGen ClinVar dbSNP | ||||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136426del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136426del Locations: - p.Lys376fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
VAR_016205 CA016651 COSV61542300 RCV000057235 RCV000503996 RCV000547164 RCV000681569 RCV001089610 RCV002321484 RCV003319170 rs61672878 | 377 | R>H | EDMD2; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients; no effect on protein level (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Charcot-Marie-Tooth disease type 2 (ClinVar) Sudden unexplained death (ClinVar) Dilated cardiomyopathy 1A (ClinVar) Muscular dystrophy (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136094G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136094G>A Locations: - p.Arg377His (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Muscular dystrophy - Sudden unexplained death Source type: mixed | |||||||
VAR_039777 CA016657 RCV000057236 RCV001237945 RCV002321554 RCV003448256 RCV003996497 rs61672878 | 377 | R>L | EDMD2 (UniProt) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136094G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136094G>T Locations: - p.Arg377Leu (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Congenital muscular dystrophy due to LMNA mutation - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
RCV001385589 rs2102891579 | 379 | E>* | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.156136433dup Consequence type: stop gained Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136433dup Locations: - p.Glu379Ter (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
COSV108189981 | 380 | D>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136921G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136921G>C Locations: - p.Asp380His (cosmic curated:ENST00000368297) - c.1138G>C (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_063591 CA016670 RCV000015620 RCV000057237 rs121912495 | 380 | L>S | MDCL (UniProt) Congenital muscular dystrophy due to LMNA mutation (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136103T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136103T>C Locations: - p.Leu380Ser (UniProt:P02545) Disease association: - Congenital muscular dystrophy due to LMNA mutation - Muscular dystrophy congenital LMNA-related (MDCL) Source type: mixed Cross-references: | |||||||
CA017170 RCV000057288 RCV001210226 rs58100028 | 385 | N>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136937del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136937del Locations: - p.Asn385fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
VAR_009987 CA016734 RCV000057243 RCV003581572 rs267607545 | 386 | R>K | EDMD2; dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136121G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136121G>A Locations: - p.Arg386Lys (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
COSV61543432 rs1233174265 | 387 | Q>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136942C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136942C>T Locations: - p.Gln387Ter (cosmic curated:ENST00000368297) - c.1159C>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_070180 CA016807 RCV000057251 RCV000805453 RCV001257936 RCV004018987 rs267607576 | 388 | R>H | CMD1A; no effect on nuclear morphology but restricts lamin A to the cytoplasm (UniProt) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136219G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136219G>A Locations: - p.Arg388His (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
CA017229 RCV000081301 RCV001187167 RCV001212011 RCV002390237 RCV003997207 rs267607579 | 393-394 | GD>E | Cardiomyopathy (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Variant of uncertain significance (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: insertion Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000001.11:g.156136962_156136964dup Consequence type: insertion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136962_156136964dup Locations: - p.Gly393_Asp394insGlu (ClinVar:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study | |||||||
COSV105259586 | 396 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136970C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156136970C>T Locations: - p.Pro396Leu (cosmic curated:ENST00000368297) - c.1187C>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA658656966 RCV000525920 RCV000599572 rs1553266024 | 398 | L>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156136976del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136976del Locations: - p.Leu398fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
VAR_039778 CA016847 RCV000015616 RCV000057255 RCV000653937 RCV001174241 RCV001188431 RCV001257937 RCV002336085 rs58672172 | 399 | R>C | FPLD2 and CMD1A; no effect on nuclear morphology and lamin A localization (UniProt) Familial partial lipodystrophy, Dunnigan type (ClinVar) Cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136251C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136251C>T Locations: - p.Arg399Cys (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease - Charcot-Marie-Tooth disease type 2 - Familial partial lipodystrophy, Dunnigan type - Lipodystrophy, familial partial, 2 (FPLD2) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
VAR_072818 CA016870 CM023951 COSV61541984 RCV000057258 RCV000157295 RCV000172002 RCV000528639 RCV000627127 RCV000769728 RCV001172616 RCV002345327 RCV003996453 rs61094188 | 401 | R>C | EDMD2; abnormal nuclear localization in a honeycomb expression pattern in about 22% of cultured skin fibroblasts from heterozygous patients; enhances the interaction with SYNE2; no effect on nuclear localization; no effect on protein level (UniProt) Catecholaminergic polymorphic ventricular tachycardia 1 (ClinVar) Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Emery-Dreifuss muscular dystrophy (ClinVar) Charcot-Marie-Tooth disease (ClinVar) Primary dilated cardiomyopathy (ClinVar) Primary familial dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00007626 (gnomAD) - MAF: 0.00003 (ClinVar) Accession: NC_000001.11:g.156136257C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136257C>T Locations: - p.Arg401Cys (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Catecholaminergic polymorphic ventricular tachycardia 1 - Charcot-Marie-Tooth disease - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy (EDMD) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Primary dilated cardiomyopathy (DCM) - Primary familial dilated cardiomyopathy (FDC) Source type: mixed Cross-references: - NCI-TCGA: CM023951 | |||||||
COSV100738756 | 404 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156136993C>A Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136993C>A Locations: - p.P404T (NCI-TCGA:ENST00000368297) - p.Pro404Thr (cosmic curated:ENST00000368297) - c.1210C>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_072819 CA016892 RCV000057259 RCV000772168 RCV002483089 rs267607647 | 411 | G>D | found in patients with metabolic syndromes; likely pathogenic; no effect on nuclear lamin A localization; no effect on the interaction with SYNE2 (UniProt) Cardiomyopathy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) | Benign (UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000001.11:g.156136288G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136288G>A Locations: - p.Gly411Asp (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Restrictive dermopathy 2 (RSDM2) Source type: mixed | |||||||
VAR_072820 RCV001193316 RCV001859170 RCV002491587 RCV003490106 rs766811975 | 413 | G>C | found in patients with skeletal and cardiac muscular dystrophies; no effect on nuclear lamin A localization; no effect on the interaction with SYNE2 (UniProt) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Benign (UniProt) | UniProt ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136293G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136293G>T Locations: - p.Gly413Cys (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Restrictive dermopathy 2 (RSDM2) Source type: mixed | |||||||
VAR_072821 CA016913 RCV000057260 RCV000534245 RCV000764982 RCV001191555 RCV002381362 rs267607606 | 415 | V>I | rare variant; found in patients with atrial fibrillation; uncertain significance; no effect on nuclear lamin A localization; enhances the interaction with SYNE2; causes nuclear deformations in heat shock experiments (UniProt) Cardiomyopathy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Likely benign (Ensembl, ClinVar) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000001.11:g.156136299G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136299G>A Locations: - p.Val415Ile (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Lethal tight skin contracture syndrome - Mandibuloacral dysplasia with type A lipodystrophy (MADA) Source type: mixed | |||||||
CA050321 COSV61542319 RCV000235878 RCV000653862 RCV000681642 RCV001098789 RCV001100613 RCV001100614 RCV001100615 RCV001100616 RCV001100617 RCV001100618 RCV001100619 RCV001100620 RCV001100889 RCV001180056 RCV002392729 RCV002494678 RCV003998908 rs200466188 | 415 | T>M | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules (ClinVar) Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Emery-Dreifuss muscular dystrophy (ClinVar) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Charcot-Marie-Tooth disease type 2B1 (ClinVar) Lethal tight skin contracture syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Familial partial lipodystrophy, Dunnigan type (ClinVar) Hutchinson-Gilford syndrome (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Mandibuloacral dysplasia with type A lipodystrophy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001592 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156137027C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137027C>T Locations: - p.T415M (NCI-TCGA:ENST00000368297) - p.Thr415Met (cosmic curated:ENST00000368297) - c.1244C>T (cosmic curated:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy (EDMD) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Lethal tight skin contracture syndrome - Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study Cross-references: | |||||||
CA017357 RCV000057311 rs60556110 | 418 | A>missing | ClinGen ClinVar dbSNP | ||||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137119del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137119del Locations: - p.Ala418fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
CA017371 RCV000057313 rs267607580 | 418 | A>missing | ClinGen ClinVar dbSNP | ||||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137120del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137120del Locations: - p.Ala418fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
VAR_072822 CA049655 RCV000227837 RCV000597022 RCV001184022 RCV002479935 RCV003998891 RCV004020899 rs755686359 | 419 | R>C | found in patients with lipodystrophy; no effect on nuclear lamin A localization; no effect on the interaction with SYNE2 (UniProt) Cardiomyopathy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Benign (UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136311C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136311C>T Locations: - p.Arg419Cys (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: mixed | |||||||
COSV100738779 rs996785044 | 419 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156137122G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137122G>T Locations: - p.A419S (NCI-TCGA:ENST00000368297) - p.Ala419Ser (cosmic curated:ENST00000368297) - c.1255G>T (cosmic curated:ENST00000368297) Source type: large scale study | |||||||
COSV100738911 | 420 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156137125G>T Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137125G>T Locations: - p.G420* (NCI-TCGA:ENST00000368297) - p.Gly420Ter (cosmic curated:ENST00000368297) - c.1258G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_072823 CA016923 RCV000057261 RCV000694118 RCV000772169 RCV002281901 RCV002444514 RCV003996501 rs267607564 | 421 | L>P | found in patient with severe metabolic syndrome; likely pathogenic; no effect on nuclear lamin A localization; no effect on the interaction with SYNE2 (UniProt) Cardiomyopathy (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Benign (UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136318T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136318T>C Locations: - p.Leu421Pro (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
RCV001008892 RCV001862755 rs1572366216 | 423 | A>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137134del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137134del Locations: - p.Ala423fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
CA017389 RCV000057315 rs267607553 | 424 | T>missing | ClinGen ClinVar dbSNP | ||||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137137_156137138insGA Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137137_156137138insGA Locations: - p.Thr424fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
RCV000706188 rs1558133157 | 425 | H>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137140del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137140del Locations: - p.His425fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
RCV001384666 rs58013325 | 428 | P>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137150del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137150del Locations: - p.Pro428fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
CA017401 RCV000041320 RCV000057317 RCV000476399 RCV000618545 rs58013325 | 429 | T>missing | Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137150dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137150dup Locations: - p.Thr429fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
CA658795538 RCV000598750 rs1553266098 | 431 | L>missing | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137148_156137158dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137148_156137158dup Locations: - p.Leu431fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
VAR_039779 CA014967 COSV61542376 RCV000057265 RCV000148606 RCV000150953 RCV000653929 RCV001172619 RCV001524022 RCV002381364 rs150840924 | 435 | R>C | CMD1A (UniProt) Cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease (ClinVar) Hutchinson-Gilford syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136359C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136359C>T Locations: - p.Arg435Cys (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease - Charcot-Marie-Tooth disease type 2 - Hutchinson-Gilford syndrome (HGPS) - Primary dilated cardiomyopathy (DCM) Source type: mixed Cross-references: | |||||||
COSV61543084 rs1651723264 | 436 | Q>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156137173C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137173C>T Locations: - p.Gln436Ter (cosmic curated:ENST00000368297) - c.1306C>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61543183 rs1327713289 | 436 | Q>R | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156137174A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137174A>G Locations: - p.Gln436Arg (cosmic curated:ENST00000368297) - c.1307A>G (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_070181 CA016991 RCV000057267 RCV001182564 RCV001225469 RCV002381365 RCV003326119 RCV003996503 RCV004537256 rs62636506 | 439 | R>C | FPLD2; increase in nuclear blebbing and formation of honeycomb-like structures in the nuclei with no accumulation of prelamin A in skin fibroblasts; causes oligomerization of the C-terminal globular domain of lamins A and C under no-reducing conditions and increases binding affinity for DNA; increases sensitivity to oxidative stress; no significant differences in stability and structure compared with the wild-type (UniProt) Familial partial lipodystrophy, Dunnigan type (ClinVar) LMNA-related disorder (ClinVar) Cardiomyopathy (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000001.11:g.156136371C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136371C>T Locations: - p.Arg439Cys (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Familial partial lipodystrophy, Dunnigan type - LMNA-related disorder - Lipodystrophy, familial partial, 2 (FPLD2) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
RCV000804440 rs1572366593 | 446 | R>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137204_156137210del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137204_156137210del Locations: - p.Arg446fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
RCV000788320 rs1572366608 | 446 | R>missing | Likely pathogenic (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137203del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137203del Locations: - p.Arg446fs (ClinVar:ENST00000368297) Source type: large scale study Cross-references: | |||||||
CA017481 RCV000057325 rs58571998 | 446 | R>missing | ClinGen ClinVar dbSNP | ||||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137200_156137203dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137200_156137203dup Locations: - p.Arg446fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
VAR_039780 CA017008 RCV000057269 RCV001248144 rs58541611 | 446 | D>V | EDMD2 (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136393A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136393A>T Locations: - p.Asp446Val (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
RCV001972424 rs2102895541 | 449 | L>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137175_156137211dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137175_156137211dup Locations: - p.Leu449fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
VAR_064971 CA017024 RCV000057271 RCV000705578 rs267607637 | 449 | G>D | EDMD2 (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136402G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136402G>A Locations: - p.Gly449Asp (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
RCV001993153 RCV003490970 rs2102896007 | 450 | I>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137211TC[4] Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137211TC[4] Locations: - p.Ile450fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
CA658795539 RCV000594291 rs1553266165 | 450 | I>missing | Variant of uncertain significance (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: inframe deletion Somatic: No Accession: NC_000001.11:g.156137213TCA[1] Consequence type: inframe deletion Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137213TCA[1] Locations: - p.Ile450del (ClinVar:ENST00000368297) Source type: large scale study | |||||||
VAR_063592 CA017039 RCV000057274 RCV002513737 rs267607598 | 453 | R>P | MDCL (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136414G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136414G>C Locations: - p.Arg453Pro (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Muscular dystrophy congenital LMNA-related (MDCL) Source type: mixed | |||||||
VAR_009988 CA017033 CM990813 RCV000015565 RCV000057273 RCV000472112 RCV000500734 RCV001095717 RCV001813989 RCV003313922 RCV004639121 rs58932704 | 453 | R>W | EDMD2; abnormal nuclear localization; forms nuclear foci in about 8% of cultured skin fibroblasts from heterozygous patients; interacts with itself and with wild-type LMNA and LMNB1; no effect on protein level (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) Muscular dystrophy (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136413C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136413C>T Locations: - p.Arg453Trp (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Muscular dystrophy Source type: mixed Cross-references: - NCI-TCGA: CM990813 | |||||||
VAR_064972 CA017048 RCV000057275 RCV003581573 rs267607638 | 454 | L>P | EDMD2 (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136417T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136417T>C Locations: - p.Leu454Pro (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
RCV001044702 RCV002466612 rs1651736894 | 455 | E>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137230del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137230del Locations: - p.Glu455fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study | |||||||
VAR_063593 CA017066 RCV000057276 RCV002514281 rs267607597 | 455 | R>P | MDCL (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136420G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136420G>C Locations: - p.Arg455Pro (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Muscular dystrophy congenital LMNA-related (MDCL) Source type: mixed | |||||||
VAR_063594 CA017074 RCV000057277 RCV000465598 rs267607599 | 456 | N>D | MDCL (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136422A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136422A>G Locations: - p.Asn456Asp (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Muscular dystrophy congenital LMNA-related (MDCL) Source type: mixed Cross-references: | |||||||
VAR_039781 CA017084 RCV000057278 rs60992550 | 456 | N>I | EDMD2; mislocalized in the nucleus; does not alter nuclear size or shape (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136423A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136423A>T Locations: - p.Asn456Ile (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
VAR_039782 RCV001044424 rs61235244 | 456 | N>K | EDMD2 (UniProt) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, UniProt) | UniProt ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136424C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136424C>G Locations: - p.Asn456Lys (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
COSV61544297 | 457 | V>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156137657G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156137657G>A Locations: - p.Val457Met (cosmic curated:ENST00000368297) - c.1369G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_064973 CA017154 RCV000057286 RCV001060202 RCV001182565 RCV002498332 RCV003996504 rs267607642 | 461 | D>Y | EDMD2 (UniProt) Cardiomyopathy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136921G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136921G>T Locations: - p.Asp461Tyr (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) - Restrictive dermopathy 2 (RSDM2) Source type: mixed | |||||||
CA16617002 RCV000487091 rs1064793674 | 463 | V>missing | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137674_156137681del Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137674_156137681del Locations: - p.Val463fs (ClinVar:ENST00000368297) Source type: large scale study | |||||||
VAR_009989 CA017164 RCV000015584 RCV000057287 RCV001851878 rs61282106 | 465 | G>D | FPLD2 (UniProt) Familial partial lipodystrophy, Dunnigan type (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136934G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136934G>A Locations: - p.Gly465Asp (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Familial partial lipodystrophy, Dunnigan type - Lipodystrophy, familial partial, 2 (FPLD2) Source type: mixed | |||||||
VAR_064974 CA017177 RCV000057289 rs267607639 | 467 | W>R | EDMD2 (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136939T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136939T>C Locations: - p.Trp467Arg (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
RCV001844768 RCV002503341 rs2102898301 | 468 | V>missing | Cardiomyopathy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) | Likely pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137689TG[1] Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137689TG[1] Locations: - p.Val468fs (ClinVar:ENST00000368297) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Restrictive dermopathy 2 (RSDM2) Source type: large scale study | |||||||
VAR_009990 CA017200 RCV000057291 rs57394692 | 469 | I>T | EDMD2 (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136946T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136946T>C Locations: - p.Ile469Thr (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
VAR_017662 CA017213 RCV000015597 RCV000057293 RCV001246687 rs28928902 | 471 | R>C | HGPS (UniProt) Mandibuloacral dysplasia with type A lipodystrophy, atypical (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000001.11:g.156136951C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136951C>T Locations: - p.Arg471Cys (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Hutchinson-Gilford progeria syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy, atypical Source type: mixed | |||||||
VAR_070182 CA017220 COSV61542545 RCV000030148 RCV000057294 RCV000154177 RCV000621248 RCV000653872 rs267607578 | 471 | R>H | CMD1A; no effect on nuclear morphology and lamin A localization (UniProt) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136952G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136952G>A Locations: - p.Arg471His (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
RCV000793293 rs1572367812 | 472 | D>missing | Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.156137702dup Consequence type: frameshift Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137702dup Locations: - p.Asp472fs (ClinVar:ENST00000368297) Disease association: - Charcot-Marie-Tooth disease type 2 Source type: large scale study Cross-references: | |||||||
COSV107422455 rs1451605729 | 474 | D>N | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156137708G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137708G>A Locations: - p.Asp474Asn (cosmic curated:ENST00000368297) - c.1420G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61543800 | 474 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156137708G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156137708G>T Locations: - p.Asp474Tyr (cosmic curated:ENST00000368297) - c.1420G>T (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
COSV61543398 | 480 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156137727T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.156137727T>C Locations: - p.Leu480Pro (cosmic curated:ENST00000368297) - c.1439T>C (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_039783 CA017237 RCV000057296 rs57747780 | 481 | Y>H | EDMD2 (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136981T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136981T>C Locations: - p.Tyr481His (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
VAR_009991 CA017271 RCV000015580 RCV000057300 RCV001097055 RCV001097056 RCV001098782 RCV001098783 RCV001098784 RCV001098785 RCV001098786 RCV001098787 RCV001098788 rs11575937 | 482 | R>L | FPLD2; abnormal nuclear localization in a honeycomb expression pattern in about 10% of cultured skin fibroblasts from heterozygous patients; no effect on protein level (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules (ClinVar) Familial partial lipodystrophy, Dunnigan type (ClinVar) Emery-Dreifuss muscular dystrophy (ClinVar) Hutchinson-Gilford syndrome (ClinVar) Charcot-Marie-Tooth disease type 2B1 (ClinVar) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Lethal tight skin contracture syndrome (ClinVar) Mandibuloacral dysplasia with type A lipodystrophy (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, UniProt) | UniProt ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136985G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136985G>T Locations: - p.Arg482Leu (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy (EDMD) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Familial partial lipodystrophy, Dunnigan type - Hutchinson-Gilford syndrome (HGPS) - Lethal tight skin contracture syndrome - Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules - Lipodystrophy, familial partial, 2 (FPLD2) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) Source type: mixed Cross-references: | |||||||
VAR_009992 CA014814 RCV000015575 RCV000041318 RCV000057299 RCV000190399 RCV000459624 RCV000754814 RCV000763258 RCV001179839 RCV001822996 RCV002390111 RCV004532361 rs11575937 | 482 | R>Q | FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type (UniProt) Emery-Dreifuss muscular dystrophy 3, autosomal recessive (ClinVar) Familial partial lipodystrophy, Dunnigan type (ClinVar) LMNA-related disorder (ClinVar) Laminopathy (ClinVar) Cardiomyopathy (ClinVar) Monogenic diabetes (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136985G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136985G>A Locations: - p.Arg482Gln (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - LMNA-related disorder - Laminopathy - Lethal tight skin contracture syndrome - Lipodystrophy, familial partial, 2 (FPLD2) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Monogenic diabetes Source type: mixed Cross-references: | |||||||
VAR_009993 CA017258 COSV61542365 RCV000015579 RCV000057298 RCV001174239 RCV001235764 RCV001248961 RCV002390112 RCV002482872 RCV004532362 rs57920071 | 482 | R>W | FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; decreases binding affinity for DNA; increases sensitivity to oxidative stress (UniProt) Familial partial lipodystrophy, Dunnigan type (ClinVar) LMNA-related disorder (ClinVar) Charcot-Marie-Tooth disease (ClinVar) Familial partial lipodystrophy (ClinVar) Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156136984C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136984C>T Locations: - p.Arg482Trp (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease - Charcot-Marie-Tooth disease type 2 - Charcot-Marie-Tooth disease type 2B1 (CMT2B1) - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) - Familial partial lipodystrophy (FPLD) - Familial partial lipodystrophy, Dunnigan type - Heart-hand syndrome, Slovenian type - Hutchinson-Gilford syndrome (HGPS) - LMNA-related disorder - Lipodystrophy, familial partial, 2 (FPLD2) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Restrictive dermopathy 2 (RSDM2) Source type: mixed Cross-references: | |||||||
COSV61542017 rs2102898731 | 483 | H>P | cosmic curated Ensembl | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156137736A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137736A>C Locations: - p.His483Pro (cosmic curated:ENST00000368297) - c.1448A>C (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_009994 CA017283 RCV000057302 RCV000193901 rs59981161 | 486 | K>N | FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type (UniProt) Familial partial lipodystrophy, Dunnigan type (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156136998G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156136998G>T Locations: - p.Lys486Asn (UniProt:P02545) Disease association: - Familial partial lipodystrophy, Dunnigan type - Lipodystrophy, familial partial, 2 (FPLD2) Source type: mixed Cross-references: | |||||||
VAR_072825 CA017289 RCV000057303 rs267607607 | 488 | T>P | found in patient with atrial fibrillation (UniProt) | Benign (UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156137002A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137002A>C Locations: - p.Thr488Pro (UniProt:P02545) Source type: mixed Cross-references: | |||||||
COSV106475472 rs1474698783 | 489 | S>N | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156137754G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137754G>A Locations: - p.Ser489Asn (cosmic curated:ENST00000368297) - c.1466G>A (cosmic curated:ENST00000368297) Source type: large scale study Cross-references: | |||||||
VAR_039784 CA017432 RCV000057321 rs58362413 | 520 | W>S | EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type (UniProt) | Pathogenic (Ensembl, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156137183G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137183G>C Locations: - p.Trp520Ser (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
VAR_067258 CA017471 RCV000182372 RCV003996716 rs201583907 | 523 | G>R | CMD1A; uncertain significance (UniProt) Primary dilated cardiomyopathy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156137191G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137191G>C Locations: - p.Gly523Arg (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
VAR_017663 CA017487 CM033972 RCV000015576 RCV000057324 RCV000192011 RCV001185736 RCV001223656 RCV002288492 RCV003319169 RCV003996098 rs57318642 | 527 | R>C | HGPS (UniProt) Mandibuloacral dysplasia with type a lipodystrophy (mada) (Ensembl) Cardiomyopathy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Hutchinson-Gilford syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Mandibuloacral dysplasia with type A lipodystrophy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001359 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000001.11:g.156137203C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137203C>T Locations: - p.Arg527Cys (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease type 2 - Congenital muscular dystrophy due to LMNA mutation - Dilated cardiomyopathy 1A (CMD1A) - Hutchinson-Gilford progeria syndrome (HGPS) - Hutchinson-Gilford syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Primary dilated cardiomyopathy (DCM) Source type: mixed Cross-references: - NCI-TCGA: CM033972 | |||||||
VAR_018727 CA014822 RCV000015591 RCV000015592 RCV000057326 RCV000148607 RCV000555364 RCV001174240 RCV001178367 RCV002399328 RCV003996101 rs57520892 | 527 | R>H | MADA (UniProt) Mandibuloacral dysplasia with type a lipodystrophy (mada) (Ensembl) Cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease (ClinVar) Mandibuloacral dysplasia with type A lipodystrophy, atypical (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Mandibuloacral dysplasia with type A lipodystrophy (ClinVar) Mandibuloacral dysplasia (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000001.11:g.156137204G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137204G>A Locations: - p.Arg527His (UniProt:P02545) Disease association: - Cardiomyopathy (CMYO) - Charcot-Marie-Tooth disease - Charcot-Marie-Tooth disease type 2 - Mandibuloacral dysplasia (MADA) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Mandibuloacral dysplasia with type A lipodystrophy, atypical - Primary dilated cardiomyopathy (DCM) Source type: mixed Cross-references: | |||||||
VAR_009995 CA017498 RCV000015569 RCV000015570 RCV000057327 RCV000700159 RCV001375641 RCV004018633 rs57520892 | 527 | R>P | EDMD2 and FPLD2; interacts with itself and with wild-type LMNA and LMNB1; reduced binding to SUN1; abnormal nuclear localization; forms nuclear foci in about 13% of cultured skin fibroblasts from heterozygous patients; no effect on protein level (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Familial partial lipodystrophy, Dunnigan type (ClinVar) Mandibuloacral dysplasia with type a lipodystrophy (mada) (Ensembl) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.156137204G>C Codon: CGT/CCT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137204G>C Locations: - p.Arg527Pro (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Familial partial lipodystrophy, Dunnigan type - Lipodystrophy, familial partial, 2 (FPLD2) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
VAR_009996 CA017504 RCV000057328 RCV000201062 RCV000986432 RCV001045262 rs57629361 | 528 | T>K | EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Hutchinson-Gilford syndrome (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156137207C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137207C>A Locations: - p.Thr528Lys (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Hutchinson-Gilford syndrome (HGPS) Source type: mixed | |||||||
VAR_039785 CA017510 RCV000057329 RCV000472329 RCV000499741 RCV001814041 RCV003483458 rs57629361 | 528 | T>R | EDMD2 (UniProt) Familial partial lipodystrophy, Dunnigan type (ClinVar) Congenital muscular dystrophy due to LMNA mutation (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156137207C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137207C>G Locations: - p.Thr528Arg (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Congenital muscular dystrophy due to LMNA mutation - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Familial partial lipodystrophy, Dunnigan type Source type: mixed | |||||||
VAR_034709 CA017534 RCV000015608 RCV000057332 RCV002399329 RCV002467496 RCV003234906 rs60580541 | 529 | A>V | MADA (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Familial partial lipodystrophy, Dunnigan type (ClinVar) Mandibuloacral dysplasia with type a lipodystrophy (mada) (Ensembl) Mandibuloacral dysplasia with type A lipodystrophy (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156137210C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137210C>T Locations: - p.Ala529Val (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Familial partial lipodystrophy, Dunnigan type - Mandibuloacral dysplasia with type A lipodystrophy (MADA) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) Source type: mixed | |||||||
VAR_009997 CA017541 RCV000015571 RCV000057333 rs60934003 | 530 | L>P | EDMD2; interacts with itself and with wild-type LMNA and LMNB1; reduced binding to SUN1; no decrease in the stability compared with wild-type (UniProt) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar) Emery-dreifuss muscular dystrophy 2, autosomal dominant (edmd2) (Ensembl) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156137213T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137213T>C Locations: - p.Leu530Pro (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
VAR_039786 CA017615 RCV000041325 RCV000057343 RCV000211786 RCV000242991 RCV000462793 rs56984562 | 541 | R>C | CMD1A; grossly abnormal nuclear shape with the nuclear envelope producing prominent lobules in about 10% of cultured skin fibroblasts from heterozygous patients (UniProt) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156137666C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137666C>T Locations: - p.Arg541Cys (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Dilated cardiomyopathy 1A (CMD1A) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
VAR_039787 CA017621 RCV000057344 RCV000221013 RCV000230467 RCV000246865 RCV001262710 RCV001836636 RCV003335086 RCV004018989 rs61444459 | 541 | R>H | EDMD2 (UniProt) LMNA-related disorder (ClinVar) Congenital muscular dystrophy (ClinVar) Hutchinson-Gilford syndrome (ClinVar) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) Dilated cardiomyopathy 1A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00009 (ClinVar) Accession: NC_000001.11:g.156137667G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137667G>A Locations: - p.Arg541His (UniProt:P02545) Disease association: - Charcot-Marie-Tooth disease type 2 - Congenital muscular dystrophy - Dilated cardiomyopathy 1A (CMD1A) - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Hutchinson-Gilford syndrome (HGPS) - LMNA-related disorder - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
VAR_064975 CA017630 RCV000057345 rs61444459 | 541 | R>P | EDMD2; mis-localized in the nucleus; does not alter nuclear size or shape (UniProt) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156137667G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137667G>C Locations: - p.Arg541Pro (UniProt:P02545) Disease association: - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Source type: mixed Cross-references: | |||||||
VAR_039788 CA017601 RCV000057341 RCV000823221 RCV004017361 rs56984562 | 541 | R>S | EDMD2 and CMD1A; modest and non-specific nuclear membrane alterations; the phenotype is entirely reversed by coexpression of the S-541 mutation and wild-type lamin-C (UniProt) Primary dilated cardiomyopathy (ClinVar) Charcot-Marie-Tooth disease type 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156137666C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137666C>A Locations: - p.Arg541Ser (UniProt:P02545) Disease association: - Cardiomyopathy, dilated, 1A (CMD1A) - Charcot-Marie-Tooth disease type 2 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) - Primary dilated cardiomyopathy (DCM) Source type: mixed | |||||||
VAR_034710 CA017637 RCV000015603 RCV000057346 rs56673169 | 542 | K>N | HGPS (UniProt) Mandibuloacral dysplasia with type a lipodystrophy (mada) (Ensembl) Mandibuloacral dysplasia with type A lipodystrophy (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000001.11:g.156137671G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 1q22 Genomic location: NC_000001.11:g.156137671G>C Locations: - p.Lys542Asn (UniProt:P02545) Disease association: - Hutchinson-Gilford progeria syndrome (HGPS) - Mandibuloacral dysplasia with type A lipodystrophy (MADA) Source type: mixed Cross-references: |