Q5TCI8 · Q5TCI8_HUMAN

Variants

149150100150200250300350400450
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV1007386588G>Wcosmic curated
RCV002224332
RCV004700694
rs1048086299
23Q>*Variant of uncertain significance (ClinVar)ClinVar
dbSNP
RCV001767070
rs888010397
27W>*Variant of uncertain significance (ClinVar)ClinVar
dbSNP
COSV6154300132A>Vcosmic curated
RCV001700802
RCV001724387
rs148559653
33K>RBenign (ClinVar)ClinVar
dbSNP
COSV10073883537P>Acosmic curated
CA018007
RCV000182374
RCV000208440
RCV001852313
rs794728597
42K>missing
Primary dilated cardiomyopathy (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Likely pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CM078079
COSV100738642
rs1406523929
44G>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV100738847
RCV001961165
rs1351159308
45D>N
Charcot-Marie-Tooth disease type 2 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
dbSNP
gnomAD
CA018019
RCV000182386
rs794728605
47I>missingPathogenic (ClinVar)ClinGen
ClinVar
dbSNP
COSV10073845047I>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV6154360853L>Mcosmic curated
CM0910022
COSV61542252
55D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
COSV10073851056L>Mcosmic curated
COSV6154200459L>Mcosmic curated
CA658656963
RCV000558114
rs1553264615
63K>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Variant of uncertain significance (ClinVar)ClinGen
ClinVar
dbSNP
COSV10073870065A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV61542027
RCV001307001
RCV004005039
rs139875047
66A>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
COSV10818991666A>Vcosmic curated
COSV10073853873E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV6154246874K>Ncosmic curated
CA645372476
RCV000501769
rs1553264624
74-79KR>S
Muscular dystrophy (ClinVar)
Likely pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
RCV001345820
RCV002336451
RCV002485202
rs760743233
75R>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
COSV100738859
COSV61544149
RCV001526029
RCV001873686
RCV002224087
RCV002334576
RCV002488345
RCV003331176
RCV004008887
rs764475194
75R>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
COSV6154414975R>Lcosmic curated
COSV6154395677L>Vcosmic curated
CA10576366
RCV000223332
rs876657650
78E>missing
Primary dilated cardiomyopathy (ClinVar)
Likely pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA018144
CM085515
RCV000041352
RCV000057410
rs267607594
81L>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
CA018161
CM082919
COSV100738529
RCV000150939
RCV000653861
RCV000732765
RCV000771896
RCV002336298
RCV002505147
RCV003998206
rs267607570
85R>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
CA018179
RCV000057505
rs267607595
88V>missingClinGen
ClinVar
dbSNP
COSV10590586988V>Ecosmic curated
CA018211
RCV000182387
RCV003996717
rs794728606
94A>missing
Primary dilated cardiomyopathy (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
RCV001381551
rs2102878324
94-95AL>*
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
COSV6154283096G>Vcosmic curated
RCV000789002
rs1572358674
104D>missing
Primary dilated cardiomyopathy (ClinVar)
Likely pathogenic (ClinVar)ClinVar
dbSNP
CA014940
COSV61542398
RCV000057417
RCV000148603
RCV000794744
RCV001177403
RCV001775077
RCV002345365
RCV002477186
rs267607626
108R>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
CA020794
RCV000057420
rs267607628
109R>RRClinGen
ClinVar
dbSNP
CA018281
RCV000182388
rs794728607
115R>missingPathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA018285
RCV000057426
rs267607541
115-118RL>SClinGen
ClinVar
dbSNP
COSV61542771116L>Mcosmic curated
CA16609887
RCV000460325
rs1060502210
122E>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
RCV001071612
rs1651352665
123L>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
VAR_072817
CA018013
RCV000057396
RCV001182171
rs267607605
125G>S
found in patients with atrial fibrillation; uncertain significance (UniProt)
Cardiomyopathy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
COSV61542390127K>Tcosmic curated
CA018324
RCV000015588
RCV000057433
rs267607540
127K>missing
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA018329
RCV000057434
rs62636507
128N>missingLikely pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
RCV001952837
rs2102879250
128N>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
COSV61542087129I>Fcosmic curated
COSV61542087
COSV61544011
129I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV001994759
RCV004641839
rs2102879360
132E>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
VAR_016913
CA018044
CM012998
CM032006
COSV100738901
RCV000015577
RCV000015578
RCV000057399
RCV001387326
rs60864230
133R>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
VAR_017657
CA018038
RCV000015602
RCV000057398
RCV000686691
rs60864230
133R>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
CA018379
CM132943
COSV105905866
RCV000182360
RCV000208531
RCV000241819
RCV000528116
RCV000725540
RCV001778774
rs794728591
135R>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
RCV001325240
rs1651388987
135-140RE>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Variant of uncertain significance (ClinVar)ClinVar
dbSNP
VAR_070175
CA018066
COSV108189980
RCV000057401
rs267607649
138E>K
HGPS (UniProt)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
COSV104659377138K>Mcosmic curated
RCV001062157
RCV001181352
RCV002365743
RCV002462304
RCV003989636
RCV004000123
rs780066296
139R>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
COSV100738716
RCV001222732
RCV002366000
RCV003132287
rs372567202
140R>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
VAR_039760
CA018070
RCV000057402
RCV001854176
rs60652225
140L>P
EDMD2 (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
VAR_017658
CA018076
RCV000015601
RCV000057403
rs60652225
140L>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
VAR_034707
CA018089
RCV000015604
RCV000057405
rs58912633
143S>F
HGPS (UniProt)
Congenital muscular dystrophy due to LMNA mutation (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
VAR_039761
CA018081
RCV000057404
RCV001258042
RCV001387327
RCV003996511
rs61661343
143S>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
CA018429
COSV61543425
RCV000056001
RCV000057442
RCV000194831
RCV000211792
RCV000464494
RCV001170453
RCV002362662
rs60682848
144R>*
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
VAR_017659
CA018095
RCV000015596
RCV000057406
RCV000192009
rs60310264
145E>K
HGPS; atypical (UniProt)
Hutchinson-Gilford syndrome (ClinVar)
Hutchinson-Gilford progeria syndrome, atypical (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
COSV100738424
rs1651395903
146V>MVariant of uncertain significance (Ensembl)cosmic curated
TOPMed
CM070191
COSV61543543
149D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
COSV100738884150N>Dcosmic curated
VAR_039762
CA018114
RCV000041350
RCV000057407
RCV001265661
RCV001852841
rs58917027
150T>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
COSV61543438
RCV001058570
RCV001191296
RCV001199337
RCV001760011
RCV002374941
RCV002482029
RCV004000103
rs760388350
150N>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
COSV61543686
RCV001878144
RCV004010776
rs201227908
154R>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
CA054163
RCV000474484
RCV000482181
RCV001180110
RCV004000798
RCV004639243
rs759829161
154R>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
RCV001206410
rs1651401067
155E>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
RCV000852406
RCV002363199
rs1572359848
157E>missing
Primary dilated cardiomyopathy (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
COSV61543063157E>Kcosmic curated
COSV61542939160L>Pcosmic curated
VAR_017660
CA018140
RCV000015598
RCV000057409
RCV000211788
RCV000687241
RCV001170451
RCV003318333
RCV004018635
rs28933093
161E>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
COSV61543947
rs1572359925
162D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
Ensembl
COSV61543056
rs1165819867
162D>NLikely pathogenic (Ensembl)cosmic curated
TOPMed
CA658795528
RCV000653919
rs1553265328
163A>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
VAR_070176
CA018166
RCV000057411
RCV000503619
RCV000556738
RCV000620401
RCV003993783
rs267607570
166R>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
RCV000800239
rs1572359991
166-168ELR>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
COSV61542460
RCV000824244
RCV001524414
RCV003307564
rs1572360042
169A>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
COSV61543503170Q>Rcosmic curated
CA018586
RCV000041364
RCV003581569
rs397517908
174Q>missing
Primary dilated cardiomyopathy (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CM135989
COSV61543641
175V>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
COSV104417601177Q>*cosmic curated
CA018627
RCV000041365
RCV000057458
RCV001216146
RCV003298080
rs58978449
180K>missing
Primary dilated cardiomyopathy (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA10602762
RCV000353946
rs886041211
181E>missingPathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA645372477
RCV000503550
RCV002527264
rs1553265369
183E>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Muscular dystrophy (ClinVar)
Likely pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA658795530
RCV000653871
rs1553265371
184K>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Variant of uncertain significance (ClinVar)ClinGen
ClinVar
dbSNP
RCV002001266
RCV003130660
rs2102882045
186Y>YY
Charcot-Marie-Tooth disease type 2 (ClinVar)
Variant of uncertain significance (ClinVar)ClinVar
dbSNP
VAR_039763
CA018251
CM050658
CM1414666
COSV61542038
RCV000057421
RCV000619042
RCV000653887
RCV000768712
RCV001449792
RCV003447483
rs267607571
190R>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
COSV61543097190L>Rcosmic curated
VAR_039764
CA018245
RCV000057419
RCV000491585
RCV000535082
RCV000619878
RCV003996512
RCV004528262
rs59026483
190R>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
CA018736
RCV000057472
rs267607616
191D>missingClinGen
ClinVar
dbSNP
COSV61542069191D>Ycosmic curated
VAR_039765
CA018258
RCV000057422
RCV001221401
rs57045855
192D>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
RCV001953733
RCV002492131
rs2102883169
194R>missing
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
VAR_009977
CA018275
RCV000015572
RCV000057425
RCV000211789
RCV000794743
rs28933091
195N>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
CA342817513
COSV61543118
RCV000503745
RCV001382395
rs1553265433
197A>P
Charcot-Marie-Tooth disease type 2 (ClinVar)
Muscular dystrophy (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
dbSNP
gnomAD
CA16617000
RCV000483218
rs1064794966
198E>missingPathogenic (ClinVar)ClinGen
ClinVar
dbSNP
COSV105259565
RCV001170454
RCV001873571
RCV004000272
rs1651446094
198E>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
CA645372479
RCV000500127
rs1553265436
199-200RN>missing
Muscular dystrophy (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
VAR_009978
CA018298
RCV000015573
RCV000057428
RCV000211791
RCV003581565
rs28933092
203E>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
VAR_039767
CA018291
RCV000055999
RCV000057427
RCV000211790
RCV000618699
RCV000653912
RCV001824588
rs61195471
203E>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
COSV61543416205G>Ecosmic curated
RCV000803599
rs59564495
205G>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Likely pathogenic (ClinVar)ClinVar
dbSNP
CA018752
RCV000182389
RCV000208368
rs59564495
206A>missing
Primary dilated cardiomyopathy (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
VAR_064964
CA018318
RCV000057431
RCV000694277
RCV002354249
rs267607629
206F>L
EDMD2 (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
COSV105259532
rs1221555471
206A>PVariant of uncertain significance (Ensembl)cosmic curated
TOPMed
gnomAD
COSV61542081
rs1221555471
206A>TVariant of uncertain significance (Ensembl)cosmic curated
TOPMed
gnomAD
CA018780
RCV000057476
RCV000790001
rs60168366
208H>missing
Charcot-Marie-Tooth disease (ClinVar)
Variant of uncertain significance (ClinVar)ClinGen
ClinVar
dbSNP
COSV106475480208H>Qcosmic curated
CA018785
CM1410871
COSV100738929
RCV000041376
RCV000505709
RCV000692291
RCV002054813
rs397517912
209E>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
VAR_070177
CA018335
RCV000041357
RCV000057435
rs267607572
210I>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
CA275309
RCV000178907
RCV000801276
rs797044758
215R>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
COSV61543131
RCV000808152
RCV001188707
RCV002487736
RCV004001702
rs375987939
215R>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
COSV61544164
rs1024051591
215R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
VAR_039768
CA018372
COSV100738907
RCV000056000
RCV000057438
RCV001382394
RCV002362688
rs61295588
215L>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
COSV61544280
RCV000702673
RCV002485734
rs762653476
217R>L
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
CA018845
RCV000057484
RCV000463447
RCV000490978
RCV000502542
RCV002371899
rs59684335
222S>missing
Dilated cardiomyopathy 1S (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Dilated cardiomyopathy 1A (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
VAR_039769
CA018421
RCV000057441
rs58034145
222H>P
EDMD2 (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
VAR_009979
CA018412
RCV000015583
RCV000057440
RCV004577319
rs28928901
222H>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
COSV100738437223A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
VAR_067697
CA018437
COSV61543702
RCV000034134
RCV000190400
RCV001178806
RCV001384595
RCV001781340
RCV001814022
RCV003996150
rs199474724
225R>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
RCV001932358
TCGA novel
rs759249597
226S>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
COSV61542798229Q>Kcosmic curated
VAR_039770
CA018460
RCV000015615
RCV000057443
rs61214927
230D>N
FPLD2 (UniProt)
Familial partial lipodystrophy, Dunnigan type (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
VAR_039771
CA018472
RCV000057445
RCV000201054
RCV001052813
rs57207746
232G>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
CM1510386
COSV100738963
RCV000712227
RCV001098489
RCV001098490
RCV001098491
RCV001098492
RCV001098493
RCV001100254
RCV001100255
RCV001100256
RCV001100257
RCV001100258
RCV001188467
RCV001372393
RCV003999796
RCV004026818
rs1212920276
237A>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
CA018896
RCV000041381
RCV000236709
RCV001069384
rs397517915
239L>missing
Primary dilated cardiomyopathy (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA018901
RCV000015581
RCV000057492
RCV000681609
rs56771886
240R>missing
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar)
Dilated cardiomyopathy 1A (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA018909
COSV61543148
RCV000041382
RCV000057493
RCV000619789
RCV000686618
RCV002265579
RCV002483029
rs267607554
240R>*
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
RCV001995641
RCV002265057
RCV004042485
rs1180922815
240R>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
CA10581126
RCV000223918
rs876661352
242L>missingPathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA306282
RCV000182390
rs794728609
244D>missingPathogenic (ClinVar)ClinGen
ClinVar
dbSNP
COSV61542762244D>Ncosmic curated
RCV001972552
rs2102887031
246L>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
CA658795532
RCV000599487
rs1553265630
246L>missingPathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA018921
RCV000182391
RCV001382584
rs794728610
246L>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
RCV001009060
rs1572362631
247A>missingLikely pathogenic (ClinVar)ClinVar
dbSNP
CA342820127
COSV61542351
RCV000657946
RCV000692895
RCV001178642
RCV003160061
RCV004002468
rs775159300
248R>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
CA018926
COSV100738465
RCV000041377
RCV000590942
RCV001181115
RCV001852843
RCV002477128
RCV003226901
rs397517913
248R>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
VAR_039772
CA018545
RCV000057451
RCV002381369
rs58850446
248L>P
EDMD2 (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
VAR_009980
CA018567
RCV000057453
RCV000201012
RCV000496185
RCV000501991
RCV000548477
RCV000662104
RCV001814042
RCV003230389
RCV004018991
rs59332535
249R>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
VAR_063589
CA018559
RCV000015621
RCV000057452
RCV000201142
RCV000814531
rs121912496
249R>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
CA658795533
RCV000653920
RCV001170980
rs1553265647
250R>missing
Cardiomyopathy (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA10584124
COSV61543943
RCV000236116
RCV001176603
RCV001857795
RCV002379039
RCV003227732
RCV003998898
rs879253898
250R>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
CA658656964
RCV000552796
RCV000778941
RCV002404566
rs1553265660
254R>missing
LMNA-related disorder (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
COSV61543345
RCV001183937
RCV001876124
RCV002484004
RCV003314669
RCV004008421
rs1237093879
255R>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
RCV002634077
rs756538414
COSV61543852
258A>V
Charcot-Marie-Tooth disease type 2 (ClinVar)
Variant of uncertain significance (ClinVar)ClinVar
dbSNP
cosmic curated
COSV61542876
RCV000812997
RCV001096835
RCV001096836
RCV001096837
RCV001096838
RCV001096839
RCV001096840
RCV001096841
RCV001096842
RCV001098596
RCV001102252
RCV001172615
RCV001189952
RCV001593004
RCV001823746
RCV002381813
RCV002507420
RCV004001748
rs749784223
262R>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
RCV000812458
rs1572362885
263E>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
COSV61543253265A>Tcosmic curated
COSV100738920265A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
VAR_039774
CA018664
COSV61544146
RCV000057462
rs57048196
267Y>C
EDMD2 (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
VAR_064965
CA018671
RCV000057463
rs267607630
268S>P
EDMD2 (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
CA016479
COSV100738834
RCV000057218
RCV000500548
RCV000653911
RCV000754811
RCV000845011
RCV002504959
RCV003996495
rs267607555
268R>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
COSV61542262269A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV61542161
rs779749639
270R>KVariant of uncertain significance (Ensembl)cosmic curated
ExAC
gnomAD
COSV61543815270R>Mcosmic curated
VAR_064966
CA018730
COSV61542703
RCV000057471
rs267607641
271L>P
EDMD2 (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
CA016535
RCV000057224
rs267607635
274Q>missingClinGen
ClinVar
dbSNP
COSV61543913275L>Qcosmic curated
CA016573
RCV000057230
RCV000143910
rs58389804
282L>missing
Primary dilated cardiomyopathy (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
RCV001914806
rs2102887987
282L>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Variant of uncertain significance (ClinVar)ClinVar
dbSNP
COSV100738813290M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA016606
RCV000041306
rs397517887
290-294ME>missing
Primary dilated cardiomyopathy (ClinVar)
Likely pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA016624
RCV000057234
RCV001036248
rs267607575
291E>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA261950
RCV000041307
RCV000492959
RCV000805993
rs397517888
291E>missing
Primary dilated cardiomyopathy (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
VAR_009982
CA018798
RCV000057477
rs61616775
294Q>P
EDMD2 (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
TOPMed
dbSNP
CA10584126
COSV61542191
RCV000235905
RCV001038975
RCV001256917
rs879254162
294A>T
Charcot-Marie-Tooth disease type 2 (ClinVar)
Dilated cardiomyopathy 1A (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
TOPMed
dbSNP
COSV61544214295Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA342820546
CM123362
COSV100738869
RCV000493512
rs1131691263
295Y>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
VAR_064967
CA018804
RCV000057478
RCV002444515
RCV002513741
rs267607633
295S>P
EDMD2 (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
CA016641
COSV61542211
RCV000041308
RCV000223811
RCV000469099
RCV000592134
RCV003236576
RCV003343619
RCV004546422
rs397517889
296R>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
CA217760
RCV000057232
rs267607624
297K>missingClinGen
ClinVar
dbSNP
VAR_017661
CA018809
COSV61543499
RCV000015590
RCV000057479
RCV000653885
RCV000826146
RCV000986429
RCV001176301
RCV002467495
RCV003162253
RCV003996100
rs59885338
298R>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
CA658795535
RCV000653874
rs1553265760
300E>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
VAR_070178
CA10575804
RCV000201431
rs79907212
300D>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
COSV61543592
RCV001220492
RCV003129737
RCV003313994
rs1651580090
302E>K
Congenital muscular dystrophy due to LMNA mutation (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
VAR_063590
CA018833
RCV000057482
rs267607596
302L>P
MDCL (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
CA10584127
RCV000236295
rs879253913
303E>missingPathogenic (ClinVar)ClinGen
ClinVar
dbSNP
VAR_064968
CA018839
RCV000057483
rs61527854
303S>P
EDMD2 (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
CA645372475
RCV000503663
RCV002281642
rs1553265761
304E>missing
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (ClinVar)
Muscular dystrophy (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA016798
CM078695
COSV61543231
RCV000057250
RCV001854173
RCV003992172
RCV003996498
rs58133342
307R>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
COSV61542951307R>Lcosmic curated
CA16609880
RCV000476791
RCV001753890
rs1553265793
307-312RL>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Variant of uncertain significance (ClinVar)ClinGen
ClinVar
dbSNP
COSV100738723308L>Rcosmic curated
CA016823
CM077201
COSV61542231
RCV000057253
RCV000157294
RCV001056678
RCV002336206
RCV002483088
RCV003996499
rs267607561
314S>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
VAR_039775
CA018878
RCV000041379
RCV000057489
RCV000560270
RCV000769726
RCV001000784
RCV001251293
RCV001775075
RCV002371856
RCV004541210
rs56816490
317E>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
CA016854
CM077197
COSV100738524
RCV000057256
RCV000550366
RCV001184773
RCV002336207
RCV003996500
rs267607563
318R>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
VAR_070179
CA018883
RCV000057491
RCV000852590
RCV001182567
RCV001303998
RCV002371900
rs267607574
318A>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
COSV61542238322S>Fcosmic curated
COSV108189910323S>Fcosmic curated
RCV001381956
rs2102889960
330G>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
RCV001892814
rs2102889960
331G>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
RCV001949620
RCV002361304
rs2102890051
332G>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
RCV001347945
RCV004005219
rs1350031185
332G>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
VAR_009983
CA016433
RCV000057214
RCV000225878
RCV002426615
RCV002483086
RCV003996492
rs58105277
336R>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
RCV001390345
rs2102890220
337K>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
RCV001380635
rs2102890245
337K>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
CA049674
COSV61541931
RCV000549013
RCV001172620
RCV002420529
RCV002483493
RCV003999467
RCV004719873
rs777648901
338R>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
RCV000788476
rs1572364243
340L>missingLikely pathogenic (ClinVar)ClinVar
dbSNP
RCV000823653
TCGA novel
rs1448275854
341E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
NCI-TCGA
dbSNP
gnomAD
COSV61542289341E>Gcosmic curated
VAR_009984
CA016448
RCV000057215
RCV000691928
RCV001180075
RCV002483087
RCV003996493
rs61177390
343R>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
RCV001390668
RCV004629160
rs1553265865
345S>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
CA016936
COSV107422484
RCV000182369
RCV000653931
RCV001181813
RCV002381591
RCV002463440
RCV002492808
RCV003479048
RCV003996715
RCV004539704
rs373584456
346R>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
CA049726
COSV61544015
RCV000767210
RCV001221759
RCV002503919
RCV003998901
RCV004020920
rs747139279
346R>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
COSV61541897347S>Ccosmic curated
VAR_039776
CA016488
RCV000057219
RCV001854172
RCV003343625
rs58789393
349R>L
CMD1A (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
dbSNP
gnomAD
COSV105259522350S>*cosmic curated
CA016966
RCV000156173
RCV001850150
rs267607577
352-353HA>*
Primary dilated cardiomyopathy (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
COSV61542109353A>Scosmic curated
COSV61543660
RCV001869379
RCV002481764
rs748433620
353A>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
CA016983
RCV000057266
RCV000157296
RCV001257938
RCV001390100
rs267607577
356S>missing
Cardiomyopathy (ClinVar)
Primary dilated cardiomyopathy (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
COSV100738562
rs766932100
357G>WVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
VAR_009985
CA016555
RCV000015622
RCV000015623
RCV000057227
RCV000470514
RCV000502108
RCV001420791
rs60458016
358E>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
CA016999
CM005398
RCV000015617
RCV000057268
RCV000552191
RCV001172618
RCV001186220
RCV001264435
RCV002381252
RCV003996102
rs121912493
359V>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
RCV001386995
rs2102890974
360A>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
COSV100738861
rs1460631717
360A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
CA658795537
RCV000592854
rs1553265897
360-363AV>missingVariant of uncertain significance (ClinVar)ClinGen
ClinVar
dbSNP
VAR_064970
CA016566
RCV000057229
RCV000504480
RCV001218431
rs267607634
361E>K
EDMD2 (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Muscular dystrophy (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
CA049885
COSV100738432
RCV000621062
RCV000808964
RCV001096939
RCV001096940
RCV001096941
RCV001096942
RCV001096943
RCV001096944
RCV001096945
RCV001096946
RCV001102354
RCV001102355
RCV001190252
RCV001544605
RCV004002668
rs368542816
361V>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
COSV61541938363E>*cosmic curated
RCV001038918
rs1651638404
364-366VDE>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Variant of uncertain significance (ClinVar)ClinVar
dbSNP
VAR_009986
CA016617
RCV000057233
rs59653062
371M>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
RCV001170982
rs1651642668
374R>missing
Cardiomyopathy (ClinVar)
Likely pathogenic (ClinVar)ClinVar
dbSNP
COSV108189913
RCV001190369
RCV001350407
RCV002379734
RCV002480633
RCV004010429
rs267607597
374R>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
CA017091
RCV000057280
RCV002513738
rs267607550
375N>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA017113
RCV000057282
rs267607549
376K>missingClinGen
ClinVar
dbSNP
VAR_016205
CA016651
COSV61542300
RCV000057235
RCV000503996
RCV000547164
RCV000681569
RCV001089610
RCV002321484
RCV003319170
rs61672878
377R>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
VAR_039777
CA016657
RCV000057236
RCV001237945
RCV002321554
RCV003448256
RCV003996497
rs61672878
377R>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
RCV001385589
rs2102891579
379E>*
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
COSV108189981380D>Hcosmic curated
VAR_063591
CA016670
RCV000015620
RCV000057237
rs121912495
380L>S
MDCL (UniProt)
Congenital muscular dystrophy due to LMNA mutation (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
CA017170
RCV000057288
RCV001210226
rs58100028
385N>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
VAR_009987
CA016734
RCV000057243
RCV003581572
rs267607545
386R>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
COSV61543432
rs1233174265
387Q>*cosmic curated
gnomAD
VAR_070180
CA016807
RCV000057251
RCV000805453
RCV001257936
RCV004018987
rs267607576
388R>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
CA017229
RCV000081301
RCV001187167
RCV001212011
RCV002390237
RCV003997207
rs267607579
393-394GD>E
Cardiomyopathy (ClinVar)
Primary dilated cardiomyopathy (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Variant of uncertain significance (ClinVar)ClinGen
ClinVar
dbSNP
COSV105259586396P>Lcosmic curated
CA658656966
RCV000525920
RCV000599572
rs1553266024
398L>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
VAR_039778
CA016847
RCV000015616
RCV000057255
RCV000653937
RCV001174241
RCV001188431
RCV001257937
RCV002336085
rs58672172
399R>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
VAR_072818
CA016870
CM023951
COSV61541984
RCV000057258
RCV000157295
RCV000172002
RCV000528639
RCV000627127
RCV000769728
RCV001172616
RCV002345327
RCV003996453
rs61094188
401R>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
COSV100738756404P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
VAR_072819
CA016892
RCV000057259
RCV000772168
RCV002483089
rs267607647
411G>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
VAR_072820
RCV001193316
RCV001859170
RCV002491587
RCV003490106
rs766811975
413G>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
VAR_072821
CA016913
RCV000057260
RCV000534245
RCV000764982
RCV001191555
RCV002381362
rs267607606
415V>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
CA050321
COSV61542319
RCV000235878
RCV000653862
RCV000681642
RCV001098789
RCV001100613
RCV001100614
RCV001100615
RCV001100616
RCV001100617
RCV001100618
RCV001100619
RCV001100620
RCV001100889
RCV001180056
RCV002392729
RCV002494678
RCV003998908
rs200466188
415T>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
CA017357
RCV000057311
rs60556110
418A>missingClinGen
ClinVar
dbSNP
CA017371
RCV000057313
rs267607580
418A>missingClinGen
ClinVar
dbSNP
VAR_072822
CA049655
RCV000227837
RCV000597022
RCV001184022
RCV002479935
RCV003998891
RCV004020899
rs755686359
419R>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
COSV100738779
rs996785044
419A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
COSV100738911420G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
VAR_072823
CA016923
RCV000057261
RCV000694118
RCV000772169
RCV002281901
RCV002444514
RCV003996501
rs267607564
421L>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
RCV001008892
RCV001862755
rs1572366216
423A>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
CA017389
RCV000057315
rs267607553
424T>missingClinGen
ClinVar
dbSNP
RCV000706188
rs1558133157
425H>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
RCV001384666
rs58013325
428P>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
CA017401
RCV000041320
RCV000057317
RCV000476399
RCV000618545
rs58013325
429T>missing
Primary dilated cardiomyopathy (ClinVar)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
CA658795538
RCV000598750
rs1553266098
431L>missingPathogenic (ClinVar)ClinGen
ClinVar
dbSNP
VAR_039779
CA014967
COSV61542376
RCV000057265
RCV000148606
RCV000150953
RCV000653929
RCV001172619
RCV001524022
RCV002381364
rs150840924
435R>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
COSV61543084
rs1651723264
436Q>*cosmic curated
gnomAD
COSV61543183
rs1327713289
436Q>Rcosmic curated
gnomAD
VAR_070181
CA016991
RCV000057267
RCV001182564
RCV001225469
RCV002381365
RCV003326119
RCV003996503
RCV004537256
rs62636506
439R>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
RCV000804440
rs1572366593
446R>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
RCV000788320
rs1572366608
446R>missingLikely pathogenic (ClinVar)ClinVar
dbSNP
CA017481
RCV000057325
rs58571998
446R>missingClinGen
ClinVar
dbSNP
VAR_039780
CA017008
RCV000057269
RCV001248144
rs58541611
446D>V
EDMD2 (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
RCV001972424
rs2102895541
449L>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
VAR_064971
CA017024
RCV000057271
RCV000705578
rs267607637
449G>D
EDMD2 (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
RCV001993153
RCV003490970
rs2102896007
450I>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
CA658795539
RCV000594291
rs1553266165
450I>missingVariant of uncertain significance (ClinVar)ClinGen
ClinVar
dbSNP
VAR_063592
CA017039
RCV000057274
RCV002513737
rs267607598
453R>P
MDCL (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
VAR_009988
CA017033
CM990813
RCV000015565
RCV000057273
RCV000472112
RCV000500734
RCV001095717
RCV001813989
RCV003313922
RCV004639121
rs58932704
453R>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
VAR_064972
CA017048
RCV000057275
RCV003581573
rs267607638
454L>P
EDMD2 (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
RCV001044702
RCV002466612
rs1651736894
455E>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
VAR_063593
CA017066
RCV000057276
RCV002514281
rs267607597
455R>P
MDCL (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
VAR_063594
CA017074
RCV000057277
RCV000465598
rs267607599
456N>D
MDCL (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
VAR_039781
CA017084
RCV000057278
rs60992550
456N>I
EDMD2; mislocalized in the nucleus; does not alter nuclear size or shape (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
TOPMed
dbSNP
VAR_039782
RCV001044424
rs61235244
456N>K
EDMD2 (UniProt)
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (Ensembl, UniProt)UniProt
ClinVar
Ensembl
dbSNP
COSV61544297457V>Mcosmic curated
VAR_064973
CA017154
RCV000057286
RCV001060202
RCV001182565
RCV002498332
RCV003996504
rs267607642
461D>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
CA16617002
RCV000487091
rs1064793674
463V>missingPathogenic (ClinVar)ClinGen
ClinVar
dbSNP
VAR_009989
CA017164
RCV000015584
RCV000057287
RCV001851878
rs61282106
465G>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
VAR_064974
CA017177
RCV000057289
rs267607639
467W>R
EDMD2 (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
RCV001844768
RCV002503341
rs2102898301
468V>missing
Cardiomyopathy (ClinVar)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ClinVar)
Likely pathogenic (ClinVar)ClinVar
dbSNP
VAR_009990
CA017200
RCV000057291
rs57394692
469I>T
EDMD2 (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
VAR_017662
CA017213
RCV000015597
RCV000057293
RCV001246687
rs28928902
471R>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
VAR_070182
CA017220
COSV61542545
RCV000030148
RCV000057294
RCV000154177
RCV000621248
RCV000653872
rs267607578
471R>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
RCV000793293
rs1572367812
472D>missing
Charcot-Marie-Tooth disease type 2 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
COSV107422455
rs1451605729
474D>Ncosmic curated
gnomAD
COSV61543800474D>Ycosmic curated
COSV61543398480L>Pcosmic curated
VAR_039783
CA017237
RCV000057296
rs57747780
481Y>H
EDMD2 (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
VAR_009991
CA017271
RCV000015580
RCV000057300
RCV001097055
RCV001097056
RCV001098782
RCV001098783
RCV001098784
RCV001098785
RCV001098786
RCV001098787
RCV001098788
rs11575937
482R>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
VAR_009992
CA014814
RCV000015575
RCV000041318
RCV000057299
RCV000190399
RCV000459624
RCV000754814
RCV000763258
RCV001179839
RCV001822996
RCV002390111
RCV004532361
rs11575937
482R>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
VAR_009993
CA017258
COSV61542365
RCV000015579
RCV000057298
RCV001174239
RCV001235764
RCV001248961
RCV002390112
RCV002482872
RCV004532362
rs57920071
482R>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
COSV61542017
rs2102898731
483H>Pcosmic curated
Ensembl
VAR_009994
CA017283
RCV000057302
RCV000193901
rs59981161
486K>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
VAR_072825
CA017289
RCV000057303
rs267607607
488T>P
found in patient with atrial fibrillation (UniProt)
Benign (UniProt)UniProt
ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
COSV106475472
rs1474698783
489S>Ncosmic curated
gnomAD
VAR_039784
CA017432
RCV000057321
rs58362413
520W>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
VAR_067258
CA017471
RCV000182372
RCV003996716
rs201583907
523G>R
CMD1A; uncertain significance (UniProt)
Primary dilated cardiomyopathy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
VAR_017663
CA017487
CM033972
RCV000015576
RCV000057324
RCV000192011
RCV001185736
RCV001223656
RCV002288492
RCV003319169
RCV003996098
rs57318642
527R>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
VAR_018727
CA014822
RCV000015591
RCV000015592
RCV000057326
RCV000148607
RCV000555364
RCV001174240
RCV001178367
RCV002399328
RCV003996101
rs57520892
527R>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
VAR_009995
CA017498
RCV000015569
RCV000015570
RCV000057327
RCV000700159
RCV001375641
RCV004018633
rs57520892
527R>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
VAR_009996
CA017504
RCV000057328
RCV000201062
RCV000986432
RCV001045262
rs57629361
528T>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
VAR_039785
CA017510
RCV000057329
RCV000472329
RCV000499741
RCV001814041
RCV003483458
rs57629361
528T>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
VAR_034709
CA017534
RCV000015608
RCV000057332
RCV002399329
RCV002467496
RCV003234906
rs60580541
529A>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
VAR_009997
CA017541
RCV000015571
RCV000057333
rs60934003
530L>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
VAR_039786
CA017615
RCV000041325
RCV000057343
RCV000211786
RCV000242991
RCV000462793
rs56984562
541R>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
VAR_039787
CA017621
RCV000057344
RCV000221013
RCV000230467
RCV000246865
RCV001262710
RCV001836636
RCV003335086
RCV004018989
rs61444459
541R>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
VAR_064975
CA017630
RCV000057345
rs61444459
541R>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
VAR_039788
CA017601
RCV000057341
RCV000823221
RCV004017361
rs56984562
541R>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
VAR_034710
CA017637
RCV000015603
RCV000057346
rs56673169
542K>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
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