A0A7P0TAW3 · A0A7P0TAW3_HUMAN
- ProteinTransitional endoplasmic reticulum ATPase
- GeneVCP
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids772 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Filter Consequence
Filter Provenance
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | |
---|---|---|---|---|---|---|
rs1191632244 | 2 | A>S | gnomAD | |||
rs767081097 | 4 | G>E | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
RCV001754958 rs2131047437 | 4 | G>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
rs767081097 | 4 | G>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs1587135687 | 5 | A>V | Ensembl | |||
rs751227891 | 9 | G>D | ExAC gnomAD | |||
RCV001198195 rs1828874096 | 10 | D>E | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs1051383927 | 10 | D>G | Ensembl | |||
rs1587130735 | 11 | D>A | Ensembl | |||
COSV62720658 rs932872788 | 11 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | ||
RCV001095442 RCV001196071 RCV002555974 RCV003425917 rs1219381953 | 14 | T>I | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |
rs553273871 | 19 | Q>R | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs1398452987 | 20 | K>N | gnomAD | |||
RCV001900926 rs1409460709 | 21 | N>S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |
rs1158843378 | 22 | R>C | gnomAD | |||
rs1190481931 | 25 | R>Q | TOPMed | |||
RCV001962627 RCV003136340 rs920962883 | 25 | R>W | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |
CA5039558 RCV000390549 RCV000639655 RCV001168490 RCV001168987 RCV001252623 RCV001642885 RCV002418113 RCV004543043 rs140913250 | 27 | I>V | VCP-related disorder (ClinVar) Intellectual disability (ClinVar) Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
RCV001933553 rs1480586527 | 28 | V>I | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |
RCV001768751 RCV002449411 rs1828872997 | 31 | A>S | Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |
rs1828872997 | 31 | A>T | Variant of uncertain significance (Ensembl) | TOPMed | ||
RCV001319074 rs1828872947 | 32 | I>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs1351617227 | 33 | N>S | gnomAD | |||
rs1828872706 | 37 | S>G | TOPMed | |||
rs1238589369 | 42 | S>P | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
rs1828867918 | 47 | D>N | TOPMed | |||
rs1828867843 | 48 | E>Q | Ensembl | |||
rs1458088202 | 50 | Q>R | TOPMed gnomAD | |||
rs774641311 | 53 | R>* | ExAC gnomAD | |||
rs1170154132 | 53 | R>Q | gnomAD | |||
rs1224146431 | 55 | D>V | gnomAD | |||
CA10633918 RCV000351753 RCV000396114 rs886063892 | 62 | K>R | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |
rs773319803 | 66 | E>D | ExAC gnomAD | |||
rs1487979155 | 67 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | ||
rs1828866436 | 70 | I>V | TOPMed | |||
COSV62720966 rs748091463 | 71 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |
rs1828866140 | 76 | T>A | TOPMed | |||
rs781182130 | 77 | C>G | ExAC gnomAD | |||
rs754802166 | 77 | C>Y | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
RCV001927107 rs1252437282 | 78 | S>C | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |
RCV001313680 RCV003222301 rs746810092 | 79 | D>E | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |
rs1828865716 | 82 | I>L | Variant of uncertain significance (Ensembl) | TOPMed | ||
COSV62719553 rs1828865639 | 83 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic gnomAD | ||
rs866052069 | 86 | R>* | Ensembl | |||
rs1828865507 | 86 | R>K | gnomAD | |||
rs1828865391 | 88 | V>I | Ensembl | |||
rs900105227 | 89 | R>Q | Variant of uncertain significance (Ensembl) | Ensembl | ||
RCV001308126 rs1828865320 | 89 | R>W | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
RCV001325031 rs1828865209 | 90 | N>D | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
RCV002015462 rs1563980966 RCV001908873 | 91 | N>K | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
CA279635 RCV000201935 RCV001271081 RCV001271088 RCV002519583 rs863225291 | 91 | N>Y | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |
rs1828865027 | 92 | L>F | Ensembl | |||
RCV000728008 RCV002233733 rs1554669087 | 93 | R>C | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
CA5039527 RCV000520021 RCV002231635 rs779959657 | 93 | R>H | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | |
rs1038579230 | 94 | V>L | Ensembl | |||
CA10603200 RCV000280148 RCV000761344 RCV001095441 RCV001215048 RCV001391611 RCV002436094 RCV004556775 rs121909332 | 95 | R>C | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Amyotrophic lateral sclerosis (ClinVar) Spastic paraplegia (ClinVar) Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | |
VAR_033016 CA254402 RCV000008992 rs121909332 | 95 | R>G | IBMPFD1; cultured cells expressing the mutant protein show a marked general increase in the level of ubiquitin-conjugated proteins and impaired protein degradation through the endoplasmic reticulum-associated degradation (ERAD) pathway; shows strongly reduced affinity for ADP and increased affinity for ATP; abolishes enhancement of K-315 methylation by ASPSCR1; decreased interaction with CAV1 and UBXN6 (UniProt) Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP gnomAD | |
RCV002018336 rs758169026 | 95 | R>H | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
RCV000731593 RCV001046936 rs758169026 | 95 | R>P | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
VAR_076464 CA213389 RCV000202492 RCV001853259 rs864309502 | 97 | G>E | CMT2Y; increased ATPase activity (UniProt) Charcot-Marie-Tooth disease type 2Y (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP | |
RCV001253196 rs1828864269 | 98 | D>E | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs753221407 | 100 | I>L | Variant of uncertain significance (Ensembl) | ExAC gnomAD | ||
rs1828864042 | 100 | I>M | TOPMed | |||
rs753221407 | 100 | I>V | Variant of uncertain significance (Ensembl) | ExAC gnomAD | ||
rs1412496313 | 102 | I>T | gnomAD | |||
rs755519508 | 103 | Q>H | ExAC | |||
RCV001863821 rs1186937475 | 104 | P>S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |
RCV001234395 rs1828842736 | 105 | C>R | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
RCV002233639 rs1563980440 | 107 | D>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
RCV001347828 rs752038734 | 111 | G>S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
RCV001168240 RCV001168241 RCV003769818 rs766787045 | 112 | K>R | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
RCV000733637 RCV000801185 RCV002332532 RCV004535869 rs549915384 | 114 | I>V | VCP-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
rs776815786 | 119 | I>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs1828841486 | 120 | D>G | TOPMed | |||
RCV001904683 rs2131038987 | 122 | T>I | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
RCV001891465 rs2131038977 | 123 | V>M | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs1563980403 | 125 | G>A | Likely pathogenic (Ensembl) | Ensembl | ||
RCV001809749 RCV002233201 rs1563980403 | 125 | G>D | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
RCV001212180 rs1828841085 | 126 | I>S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs1287162663 | 127 | T>A | gnomAD | |||
CA373291969 RCV000498690 RCV003766796 rs1554668979 | 128 | G>A | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Likely pathogenic (Ensembl) | ClinGen ClinVar Ensembl dbSNP | |
rs775567003 | 133 | V>I | Variant of uncertain significance (Ensembl) | ExAC gnomAD | ||
rs775567003 | 133 | V>L | Variant of uncertain significance (Ensembl) | ExAC gnomAD | ||
RCV001296826 RCV002357086 RCV003135925 rs1828840466 | 134 | Y>C | Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs868435969 | 137 | P>L | Ensembl | |||
RCV000736269 rs866101707 | 137 | P>S | Alzheimer disease (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |
rs2131038903 | 141 | E>A | Ensembl | |||
rs866582683 | 144 | R>Q | gnomAD | |||
rs1828839805 | 146 | I>V | Ensembl | |||
rs1315819281 | 147 | R>W | TOPMed | |||
rs775948048 | 149 | G>R | ExAC gnomAD | |||
RCV001212890 rs1828808459 | 151 | I>M | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
RCV001890377 RCV003355609 rs367881889 | 151 | I>V | Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP TOPMed dbSNP gnomAD | |
rs1828808389 | 152 | F>L | TOPMed | |||
RCV001312665 rs1587127201 | 154 | V>F | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |
rs1587127201 | 154 | V>I | Variant of uncertain significance (Ensembl) | gnomAD | ||
VAR_033017 CA254398 CM040815 CM092553 COSV100734231 COSV62719858 RCV000008990 RCV000372207 RCV000685660 RCV001095424 rs121909330 | 155 | R>C | IBMPFD1; also in one patient without evidence of Paget disease of the bone (UniProt) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA NCI-TCGA Cosmic ClinVar Ensembl dbSNP | |
CA277489 RCV000196145 RCV000494556 RCV002229498 rs121909330 | 155 | R>G | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |
VAR_033018 CA128983 RCV000008989 RCV000523065 RCV000540496 RCV001271089 RCV002336080 rs121909329 | 155 | R>H | FTDALS6 and IBMPFD1; properly assembles into a hexameric structure; cultured cells expressing the mutant protein show a marked general increase in the level of ubiquitin-conjugated proteins and impaired protein degradation through the endoplasmic reticulum-associated degradation (ERAD) pathway; shows strongly reduced affinity for ADP and increased affinity for ATP; shows normal ATPase activity according to PubMed:16321991 while according to PubMed:25878907 and PubMed:25125609 shows increased ATPase activity; no defect in ubiquitin-dependent protein degradation by the proteasome; impaired autophagic function; defective maturation of ubiquitin-containing autophagosomes; decreased interaction with CAV1 and UBXN6; decreased endosome to lysosome transport via multivesicular body sorting pathway of CAV1; decreases the arsenite-induced stress granules (SGs) clearance process (UniProt) Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | |
VAR_078910 rs121909329 | 155 | R>L | IBMPFD1 (UniProt) | Pathogenic (Ensembl, UniProt) | UniProt Ensembl dbSNP | |
VAR_033019 CA254404 RCV000008993 RCV001387337 RCV003137504 rs121909329 | 155 | R>P | IBMPFD1 (UniProt) Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | |
VAR_076466 RCV001949225 rs121909330 | 155 | R>S | IBMPFD1; impaired autophagic function (UniProt) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinVar Ensembl dbSNP | |
rs1554668817 | 156 | G>S | Pathogenic (Ensembl) | Ensembl | ||
RCV001972632 rs1554668814 RCV001091822 | 157 | G>R | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs1554668814 | 157 | G>W | Pathogenic (Ensembl) | Ensembl | ||
rs1828807231 | 158 | M>T | Ensembl | |||
RCV001953725 rs1554668813 | 158 | M>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
CA5039453 RCV000333881 RCV001095425 RCV002229732 rs387906789 | 159 | R>C | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | |
VAR_065910 CA259748 RCV000023065 rs387906789 | 159 | R>G | FTDALS6 (UniProt) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC dbSNP gnomAD | |
VAR_033020 CA254408 RCV000008995 RCV000276565 RCV000639653 RCV003335021 RCV004532314 rs121909335 | 159 | R>H | IBMPFD1; without frontotemporal dementia; abolishes enhancement of K-315 methylation by ASPSCR1 (UniProt) VCP-related disorder (ClinVar) Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP gnomAD | |
RCV001271083 rs387906789 | 159 | R>S | Amyotrophic lateral sclerosis type 6 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |
CA373289512 RCV000639654 RCV000993545 RCV001535609 rs1554668805 | 160 | A>P | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |
CA373289480 RCV002233477 rs1554668804 | 160 | A>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |
rs974794063 | 165 | V>A | TOPMed | |||
RCV000793063 rs200911363 | 171 | S>I | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
RCV001361941 rs200911363 | 171 | S>N | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
RCV001541190 rs2131036685 | 171 | S>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
rs766261105 | 173 | Y>C | ExAC gnomAD | |||
rs1587127096 | 173 | Y>H | Ensembl | |||
rs1828805958 | 175 | I>T | Ensembl | |||
RCV001212543 rs1828806031 | 175 | I>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs1275676999 | 181 | V>L | gnomAD | |||
RCV000730388 rs1333833979 | 185 | E>D | Likely benign (Ensembl) | ClinVar dbSNP gnomAD | ||
VAR_076467 CA213386 RCV000202444 RCV002229147 RCV002345722 rs864309501 | 185 | E>K | CMT2Y; normal ATPase activity; impaired autophagic function (UniProt) Charcot-Marie-Tooth disease type 2Y (ClinVar) Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP | |
rs1410410076 | 188 | P>H | gnomAD | |||
rs1410410076 | 188 | P>R | gnomAD | |||
rs1309590903 | 188 | P>S | gnomAD | |||
rs747754993 | 189 | I>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs776154559 | 190 | K>R | ExAC TOPMed gnomAD | |||
RCV001095426 RCV003769035 rs121909334 | 191 | R>P | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |
VAR_033021 CA254406 RCV000008994 RCV000023064 RCV000516636 RCV000555373 RCV002496309 rs121909334 | 191 | R>Q | FTDALS6 and IBMPFD1; abolishes enhancement of K-315 methylation by ASPSCR1 (UniProt) Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar dbSNP gnomAD | |
rs748447593 | 198 | L>S | ExAC TOPMed gnomAD | |||
VAR_076468 rs748447593 | 198 | L>W | IBMPFD1; increased ATPase activity; impaired autophagic function (UniProt) | Pathogenic (UniProt) | UniProt ExAC TOPMed dbSNP gnomAD | |
rs1432268135 | 201 | V>A | gnomAD | |||
rs1828783803 | 201 | V>I | Ensembl | |||
rs1554668715 | 206 | I>F | Ensembl | |||
RCV001038094 RCV002463580 rs1828783140 | 216 | I>M | Lewy body dementia (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs751610041 | 216 | I>V | ExAC gnomAD | |||
rs1587125978 | 220 | V>G | Ensembl | |||
rs1828783023 | 222 | L>Q | Ensembl | |||
RCV001881889 rs2131035134 | 226 | H>L | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs1327372007 | 227 | P>S | TOPMed | |||
rs1415198651 | 228 | A>T | TOPMed gnomAD | |||
VAR_033022 CA254400 RCV000008991 RCV001172005 rs121909331 | 232 | A>E | IBMPFD1; increased ATPase activity; no defect in ubiquitin-dependent protein degradation by the proteasome; impaired autophagic function; defect in maturation of ubiquitin-containing autophagosomes; decreased interaction with CAV1 and UBXN6 (UniProt) Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | |
RCV001167606 RCV001167607 RCV001220592 RCV001664718 rs750335399 | 233 | I>V | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
rs1302976833 | 244 | Y>S | gnomAD | |||
rs759122055 | 246 | P>R | ExAC gnomAD | |||
rs1828757895 | 246 | P>S | Ensembl | |||
rs1554668602 | 249 | T>K | Ensembl | |||
COSV62721382 RCV001217063 rs1828757317 | 256 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic ClinVar Ensembl dbSNP | |
rs1309095254 | 258 | V>A | TOPMed gnomAD | |||
rs1828757172 | 258 | V>I | Ensembl | |||
rs1828756929 | 260 | N>I | TOPMed | |||
rs1554668598 | 262 | T>A | Ensembl | |||
rs1554668595 | 262 | T>S | Ensembl | |||
rs1828756630 | 264 | A>G | Ensembl | |||
COSV100734087 RCV001167604 RCV001167605 rs1828756507 | 265 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic ClinVar Ensembl dbSNP | |
rs1554668591 | 269 | I>F | Ensembl | |||
rs1554668589 | 269 | I>S | Ensembl | |||
CA16618852 RCV000483569 rs1064796741 | 271 | G>A | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | ||
RCV001770660 rs2131033531 | 271 | G>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
CA373286181 RCV000518809 rs1554668502 | 276 | S>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
rs1244760473 | 279 | A>T | gnomAD | |||
rs772315780 | 284 | S>R | ExAC gnomAD | |||
RCV000658477 rs1554668497 | 287 | R>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
rs1554668496 | 289 | A>S | Ensembl | |||
rs1338553913 | 301 | I>V | TOPMed | |||
rs1200962823 | 303 | I>V | TOPMed gnomAD | |||
rs2131032707 | 306 | L>I | Ensembl | |||
rs1165320538 | 315 | K>R | gnomAD | |||
rs757918758 | 325 | V>I | ExAC | |||
RCV001050288 rs1828737891 | 332 | M>T | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs1429025001 | 333 | D>H | gnomAD | |||
rs1013655779 | 337 | Q>R | Ensembl | |||
rs761051164 | 339 | A>V | ExAC gnomAD | |||
rs1376746327 | 342 | I>M | gnomAD | |||
rs1828737203 | 344 | M>T | Variant of uncertain significance (Ensembl) | TOPMed | ||
rs1196247119 | 346 | A>G | gnomAD | |||
rs1254487580 | 350 | P>A | TOPMed gnomAD | |||
rs747902669 | 352 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | ||
rs1276476611 | 353 | I>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
rs1269871658 | 355 | P>T | gnomAD | |||
rs1828736471 | 359 | R>G | TOPMed | |||
VAR_088267 COSV100734085 RCV001237563 RCV001760253 RCV002471052 rs1828723406 | 369 | I>T | IBMPFD1; uncertain significance (UniProt) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Charcot-Marie-Tooth disease type 2Y (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, UniProt) | UniProt NCI-TCGA Cosmic ClinVar Ensembl dbSNP | |
CA10605559 RCV000284424 rs886043471 | 374 | A>D | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
rs886043471 | 374 | A>G | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
rs1471929394 | 374 | A>T | gnomAD | |||
rs886043471 | 374 | A>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
rs1331604813 | 375 | T>I | gnomAD | |||
rs1251256829 | 377 | R>C | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
rs1415623982 | 377 | R>L | TOPMed gnomAD | |||
rs2131031896 | 378 | L>S | Ensembl | |||
rs1457093327 | 380 | I>V | gnomAD | |||
RCV001322715 RCV003135972 rs1828722725 | 382 | Q>E | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs1828722657 | 382 | Q>H | Ensembl | |||
RCV001311774 rs1828722595 | 385 | T>A | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
RCV000729360 RCV001346989 rs1563977665 | 386 | K>E | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
VAR_078911 rs1554668420 | 387 | N>H | IBMPFD1; uncertain significance (UniProt) | Variant of uncertain significance (UniProt) | UniProt Ensembl dbSNP | |
rs1410177803 | 387 | N>S | Variant of uncertain significance (Ensembl) | gnomAD | ||
CA373283055 RCV000517850 rs1410177803 | 387 | N>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | ||
RCV001927729 rs761895823 | 388 | M>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |
rs1470792208 | 393 | D>A | gnomAD | |||
rs1470792208 | 393 | D>G | gnomAD | |||
RCV002234843 rs1587122661 | 394 | V>M | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs768643940 | 395 | D>E | ExAC gnomAD | |||
RCV001271084 rs1828721782 | 395 | D>G | FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
RCV002046718 RCV003136195 rs2131031813 | 396 | L>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs746717302 | 397 | E>K | gnomAD | |||
rs746717302 | 397 | E>Q | gnomAD | |||
rs758694686 | 399 | V>I | ExAC TOPMed gnomAD | |||
rs1414809572 | 401 | N>D | TOPMed | |||
RCV001992255 rs148329626 | 401 | N>I | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Likely benign (Ensembl) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |
CA5039291 RCV000534353 RCV001579523 RCV002350262 RCV004537963 rs148329626 | 401 | N>S | VCP-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |
RCV001884072 RCV003136256 rs1359620830 | 404 | H>P | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |
rs775408796 | 419 | A>G | Variant of uncertain significance (Ensembl) | ExAC gnomAD | ||
RCV001990570 rs2131031304 | 422 | A>G | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
RCV001976035 rs2131031300 | 428 | D>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs2131031287 | 430 | I>S | Ensembl | |||
rs771751916 | 432 | L>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
RCV001949771 rs771751916 | 432 | L>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
rs186780925 | 436 | T>I | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs1392284756 | 437 | I>V | Variant of uncertain significance (Ensembl) | gnomAD | ||
rs1554668368 | 439 | A>P | Ensembl | |||
CM092555 CM117903 COSV100734134 COSV62720532 rs1554668368 | 439 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA NCI-TCGA Cosmic Ensembl dbSNP | ||
RCV000779579 rs955652521 | 440 | E>* | VCP-related disorder (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |
RCV001343566 rs955652521 | 440 | E>K | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |
RCV001234713 rs1828712085 | 442 | M>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
CA5039281 RCV000639652 RCV004678774 rs770514866 | 443 | N>H | Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | |
RCV001095775 rs1828711704 | 450 | D>V | VCP-related multisystem proteinopathy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs777223220 | 452 | F>C | ExAC | |||
RCV001769177 RCV001868584 rs755519450 | 453 | R>W | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |
CA16609414 RCV000449528 rs1060499674 | 458 | Q>H | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |
rs772569728 | 465 | R>Q | ExAC gnomAD | |||
rs1056112786 | 466 | E>V | Ensembl | |||
RCV001991096 rs779392075 | 468 | V>M | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
CA373280841 RCV000595705 RCV001860219 rs1554668345 | 478 | D>G | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |
rs1180007490 | 479 | I>V | gnomAD | |||
rs1251080168 | 480 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | ||
rs375649091 | 486 | K>I | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
RCV001907289 RCV004536387 rs752765916 | 487 | R>C | VCP-related disorder (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
RCV001816505 RCV003772278 rs767379602 | 487 | R>H | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
rs1828706967 | 493 | V>F | Ensembl | |||
rs1828700093 | 497 | V>M | TOPMed | |||
rs1828699881 | 501 | D>N | gnomAD | |||
rs773673950 | 508 | M>I | ExAC gnomAD | |||
rs1430706449 | 508 | M>L | gnomAD | |||
rs1430706449 | 508 | M>V | gnomAD | |||
rs1458481328 | 510 | P>L | gnomAD | |||
rs1389575996 | 512 | K>R | TOPMed gnomAD | |||
rs77248841 | 524 | K>E | Ensembl | |||
rs779975862 | 534 | E>D | ExAC gnomAD | |||
CA373279335 RCV000497568 rs1554668287 | 538 | N>K | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
rs765061140 | 540 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP | ||
rs1563976782 | 543 | K>N | Ensembl | |||
rs753528183 | 550 | M>L | ExAC gnomAD | |||
rs753528183 | 550 | M>V | ExAC gnomAD | |||
rs1828684850 | 567 | R>C | Variant of uncertain significance (Ensembl) | TOPMed | ||
COSV62720296 COSV62721928 rs201431036 | 567 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | ||
rs142577424 | 568 | Q>H | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
RCV001765020 rs2131029566 | 570 | A>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
rs1828684394 | 575 | F>L | gnomAD | |||
rs866287267 | 582 | I>V | Ensembl | |||
rs2131029519 | 587 | G>R | 1000Genomes | |||
rs776808332 | 590 | I>T | ExAC gnomAD | |||
RCV001864719 rs1255802734 | 590 | I>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |
rs1828683227 | 592 | D>G | TOPMed gnomAD | |||
rs387906790 | 592 | D>H | Pathogenic (Ensembl) | gnomAD | ||
VAR_065911 CA128985 RCV000023066 rs387906790 | 592 | D>N | FTDALS6 (UniProt) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar dbSNP gnomAD | |
rs2131029479 | 593 | G>A | Ensembl | |||
rs2131029472 | 595 | G>V | Ensembl | |||
rs1828682893 | 596 | A>S | TOPMed gnomAD | |||
RCV001948610 rs890637602 | 597 | A>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |
RCV001758821 rs2131029448 | 603 | Q>H | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
rs1385326324 | 611 | M>T | TOPMed | |||
RCV002040767 rs2131029426 | 613 | T>A | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs775606754 | 613 | T>I | ExAC gnomAD | |||
rs775606754 | 613 | T>R | ExAC gnomAD | |||
rs1828681929 | 616 | N>K | TOPMed | |||
rs1457011497 | 619 | I>M | gnomAD | |||
CA10633605 RCV000306523 RCV000352284 rs886063891 | 619 | I>T | Amyotrophic Lateral Sclerosis, Dominant (ClinVar) Inclusion Body Myopathy, Dominant (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |
RCV001248579 rs1828681453 | 622 | A>S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
COSV100734138 rs1587120279 | 625 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | ||
rs1828680638 | 633 | I>V | Ensembl | |||
rs1587120235 | 634 | L>F | Ensembl | |||
rs1207909368 | 643 | I>V | gnomAD | |||
rs868678589 | 648 | P>S | Ensembl | |||
rs200169287 | 653 | R>C | 1000Genomes ExAC gnomAD | |||
rs200169287 | 653 | R>G | 1000Genomes ExAC gnomAD | |||
RCV000714166 RCV003353004 RCV003768116 rs1284380722 | 658 | K>T | Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |
CM126288 COSV100734306 RCV002233265 RCV003140101 rs765795425 | 662 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA NCI-TCGA Cosmic ClinVar ExAC TOPMed dbSNP gnomAD | |
RCV001917549 RCV003375409 rs762185724 | 662 | R>H | Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
RCV001995288 rs2131029246 | 665 | P>S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
RCV001051610 rs754268174 | 666 | V>I | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |
RCV000801506 rs757829124 | 672 | L>V | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |
rs955893615 | 674 | F>L | TOPMed | |||
rs754299259 | 678 | M>T | ExAC gnomAD | |||
rs1828671642 | 680 | N>S | Ensembl | |||
rs1587119721 | 686 | D>A | Ensembl | |||
rs767762212 | 687 | L>V | ExAC gnomAD | |||
rs1828671183 | 688 | T>A | gnomAD | |||
rs1205247470 | 690 | I>V | TOPMed | |||
CA373273844 RCV000523151 rs1490390928 | 693 | R>C | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | ||
rs2131028782 | 693 | R>H | Ensembl | |||
rs769793706 | 698 | A>P | ExAC gnomAD | |||
rs747975110 | 699 | I>V | ExAC gnomAD | |||
COSV62721638 rs1202389474 | 700 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | ||
rs1202389474 | 700 | R>S | gnomAD | |||
COSV62722144 rs1323248315 | 704 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |
RCV001763742 rs2131028733 | 706 | E>D | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
CA192679485 RCV000592679 rs1000496477 | 707 | I>M | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
rs768462341 | 707 | I>T | ExAC gnomAD | |||
RCV001343252 rs746617777 | 709 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
rs1346289873 | 710 | E>G | gnomAD | |||
RCV001241484 RCV002418829 rs779670266 | 711 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
rs2131028688 | 715 | T>A | Variant of uncertain significance (Ensembl) | Ensembl | ||
rs1440024182 | 717 | P>S | TOPMed gnomAD | |||
rs1356518831 | 718 | S>L | gnomAD | |||
RCV001754893 rs2131026692 | 725 | D>N | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
rs1828634548 | 727 | P>L | gnomAD | |||
rs11546022 | 729 | P>L | Ensembl | |||
rs373800909 | 730 | E>D | Variant of uncertain significance (Ensembl) | ESP ExAC gnomAD | ||
rs1828634208 | 730 | E>K | Ensembl | |||
rs186657793 | 731 | I>M | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
RCV001224616 rs758602597 | 732 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |
rs750571188 | 732 | R>H | ExAC gnomAD | |||
rs758602597 | 732 | R>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
COSV100734398 rs1027386475 | 733 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | ||
rs764036918 | 741 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ExAC TOPMed dbSNP gnomAD | |
rs760411781 | 741 | R>H | Variant of uncertain significance (Ensembl) | ExAC gnomAD | ||
RCV001039023 rs771662410 | 743 | A>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |
rs773912640 | 744 | R>H | ExAC TOPMed gnomAD | |||
RCV002039309 rs2131026595 | 745 | R>C | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
COSV100734120 rs1828632857 | 745 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic Ensembl | |
rs866959068 | 746 | S>F | Ensembl | |||
RCV001210057 rs1828632660 | 748 | S>C | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs1828632521 | 749 | D>N | TOPMed | |||
rs748732505 | 750 | N>S | ExAC TOPMed gnomAD | |||
rs1828632309 | 752 | I>V | Variant of uncertain significance (Ensembl) | TOPMed | ||
rs1828632233 | 753 | R>Q | TOPMed | |||
RCV001764763 rs2131026564 | 753 | R>W | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
rs1411139426 | 756 | E>A | gnomAD | |||
RCV002235557 rs1587117319 | 756 | E>K | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs769153776 | 759 | A>S | ExAC gnomAD | |||
rs1828631680 | 760 | Q>H | gnomAD | |||
rs1383633787 | 766 | R>W | gnomAD | |||
rs1587117281 | 773 | *>E | Ensembl | |||