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A0A7P0TAW3 · A0A7P0TAW3_HUMAN

  • Protein
    Transitional endoplasmic reticulum ATPase
  • Gene
    VCP
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    3/5

Variants

1772100200300400500600700200400600

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Filter Provenance

GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs11916322442A>SgnomAD
rs7670810974G>EVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001754958
rs2131047437
4G>RVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs7670810974G>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs15871356875A>VEnsembl
rs7512278919G>DExAC
gnomAD
RCV001198195
rs1828874096
10D>E
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs105138392710D>GEnsembl
rs158713073511D>AEnsembl
COSV62720658
rs932872788
11D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
dbSNP
RCV001095442
RCV001196071
RCV002555974
RCV003425917
rs1219381953
14T>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
rs55327387119Q>RVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs139845298720K>NgnomAD
RCV001900926
rs1409460709
21N>S
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs115884337822R>CgnomAD
rs119048193125R>QTOPMed
RCV001962627
RCV003136340
rs920962883
25R>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
27I>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
28V>I
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
RCV001768751
RCV002449411
rs1828872997
31A>S
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
rs182887299731A>TVariant of uncertain significance (Ensembl)TOPMed
RCV001319074
rs1828872947
32I>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs135161722733N>SgnomAD
rs182887270637S>GTOPMed
rs123858936942S>PVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs182886791847D>NTOPMed
rs182886784348E>QEnsembl
rs145808820250Q>RTOPMed
gnomAD
rs77464131153R>*ExAC
gnomAD
rs117015413253R>QgnomAD
rs122414643155D>VgnomAD
CA10633918
RCV000351753
RCV000396114
rs886063892
62K>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
rs77331980366E>DExAC
gnomAD
rs148797915567A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs182886643670I>VTOPMed
COSV62720966
rs748091463
71V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs182886614076T>ATOPMed
rs78118213077C>GExAC
gnomAD
rs75480216677C>YVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001927107
rs1252437282
78S>C
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001313680
RCV003222301
rs746810092
79D>E
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs182886571682I>LVariant of uncertain significance (Ensembl)TOPMed
COSV62719553
rs1828865639
83R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
gnomAD
rs86605206986R>*Ensembl
rs182886550786R>KgnomAD
rs182886539188V>IEnsembl
rs90010522789R>QVariant of uncertain significance (Ensembl)Ensembl
RCV001308126
rs1828865320
89R>W
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001325031
rs1828865209
90N>D
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV002015462
rs1563980966
RCV001908873
91N>K
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA279635
RCV000201935
RCV001271081
RCV001271088
RCV002519583
rs863225291
91N>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
rs182886502792L>FEnsembl
RCV000728008
RCV002233733
rs1554669087
93R>C
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA5039527
RCV000520021
RCV002231635
rs779959657
93R>H
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs103857923094V>LEnsembl
CA10603200
RCV000280148
RCV000761344
RCV001095441
RCV001215048
RCV001391611
RCV002436094
RCV004556775
rs121909332
95R>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
95R>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
95R>H
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000731593
RCV001046936
rs758169026
95R>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
97G>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
98D>E
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs753221407100I>LVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs1828864042100I>MTOPMed
rs753221407100I>VVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs1412496313102I>TgnomAD
rs755519508103Q>HExAC
RCV001863821
rs1186937475
104P>S
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001234395
rs1828842736
105C>R
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV002233639
rs1563980440
107D>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001347828
rs752038734
111G>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
112K>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
114I>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
rs776815786119I>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1828841486120D>GTOPMed
RCV001904683
rs2131038987
122T>I
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001891465
rs2131038977
123V>M
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1563980403125G>ALikely pathogenic (Ensembl)Ensembl
RCV001809749
RCV002233201
rs1563980403
125G>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
126I>S
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1287162663127T>AgnomAD
CA373291969
RCV000498690
RCV003766796
rs1554668979
128G>A
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Likely pathogenic (Ensembl)ClinGen
ClinVar
Ensembl
dbSNP
rs775567003133V>IVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs775567003133V>LVariant of uncertain significance (Ensembl)ExAC
gnomAD
RCV001296826
RCV002357086
RCV003135925
rs1828840466
134Y>C
Inborn genetic diseases (ClinVar)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs868435969137P>LEnsembl
RCV000736269
rs866101707
137P>S
Alzheimer disease (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
rs2131038903141E>AEnsembl
rs866582683144R>QgnomAD
rs1828839805146I>VEnsembl
rs1315819281147R>WTOPMed
rs775948048149G>RExAC
gnomAD
RCV001212890
rs1828808459
151I>M
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001890377
RCV003355609
rs367881889
151I>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
rs1828808389152F>LTOPMed
RCV001312665
rs1587127201
154V>F
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1587127201154V>IVariant of uncertain significance (Ensembl)gnomAD
VAR_033017
CA254398
CM040815
CM092553
COSV100734231
COSV62719858
RCV000008990
RCV000372207
RCV000685660
RCV001095424
rs121909330
155R>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
155R>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
155R>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
155R>L
IBMPFD1 (UniProt)
Pathogenic (Ensembl, UniProt)UniProt
Ensembl
dbSNP
VAR_033019
CA254404
RCV000008993
RCV001387337
RCV003137504
rs121909329
155R>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
155R>S
IBMPFD1; impaired autophagic function (UniProt)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinVar
Ensembl
dbSNP
rs1554668817156G>SPathogenic (Ensembl)Ensembl
RCV001972632
rs1554668814
RCV001091822
157G>R
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1554668814157G>WPathogenic (Ensembl)Ensembl
rs1828807231158M>TEnsembl
RCV001953725
rs1554668813
158M>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA5039453
RCV000333881
RCV001095425
RCV002229732
rs387906789
159R>C
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
dbSNP
gnomAD
VAR_065910
CA259748
RCV000023065
rs387906789
159R>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
159R>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
159R>S
Amyotrophic lateral sclerosis type 6 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
CA373289512
RCV000639654
RCV000993545
RCV001535609
rs1554668805
160A>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
160A>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs974794063165V>ATOPMed
RCV000793063
rs200911363
171S>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
171S>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
171S>RVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs766261105173Y>CExAC
gnomAD
rs1587127096173Y>HEnsembl
rs1828805958175I>TEnsembl
RCV001212543
rs1828806031
175I>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1275676999181V>LgnomAD
RCV000730388
rs1333833979
185E>DLikely benign (Ensembl)ClinVar
dbSNP
gnomAD
VAR_076467
CA213386
RCV000202444
RCV002229147
RCV002345722
rs864309501
185E>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
rs1410410076188P>HgnomAD
rs1410410076188P>RgnomAD
rs1309590903188P>SgnomAD
rs747754993189I>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs776154559190K>RExAC
TOPMed
gnomAD
RCV001095426
RCV003769035
rs121909334
191R>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
191R>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
rs748447593198L>SExAC
TOPMed
gnomAD
VAR_076468
rs748447593
198L>W
IBMPFD1; increased ATPase activity; impaired autophagic function (UniProt)
Pathogenic (UniProt)UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs1432268135201V>AgnomAD
rs1828783803201V>IEnsembl
rs1554668715206I>FEnsembl
RCV001038094
RCV002463580
rs1828783140
216I>M
Lewy body dementia (ClinVar)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs751610041216I>VExAC
gnomAD
rs1587125978220V>GEnsembl
rs1828783023222L>QEnsembl
RCV001881889
rs2131035134
226H>L
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1327372007227P>STOPMed
rs1415198651228A>TTOPMed
gnomAD
VAR_033022
CA254400
RCV000008991
RCV001172005
rs121909331
232A>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
233I>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
rs1302976833244Y>SgnomAD
rs759122055246P>RExAC
gnomAD
rs1828757895246P>SEnsembl
rs1554668602249T>KEnsembl
COSV62721382
RCV001217063
rs1828757317
256R>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
rs1309095254258V>ATOPMed
gnomAD
rs1828757172258V>IEnsembl
rs1828756929260N>ITOPMed
rs1554668598262T>AEnsembl
rs1554668595262T>SEnsembl
rs1828756630264A>GEnsembl
COSV100734087
RCV001167604
RCV001167605
rs1828756507
265F>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
rs1554668591269I>FEnsembl
rs1554668589269I>SEnsembl
CA16618852
RCV000483569
rs1064796741
271G>AVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
dbSNP
gnomAD
RCV001770660
rs2131033531
271G>RVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA373286181
RCV000518809
rs1554668502
276S>TVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs1244760473279A>TgnomAD
rs772315780284S>RExAC
gnomAD
RCV000658477
rs1554668497
287R>LVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1554668496289A>SEnsembl
rs1338553913301I>VTOPMed
rs1200962823303I>VTOPMed
gnomAD
rs2131032707306L>IEnsembl
rs1165320538315K>RgnomAD
rs757918758325V>IExAC
RCV001050288
rs1828737891
332M>T
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1429025001333D>HgnomAD
rs1013655779337Q>REnsembl
rs761051164339A>VExAC
gnomAD
rs1376746327342I>MgnomAD
rs1828737203344M>TVariant of uncertain significance (Ensembl)TOPMed
rs1196247119346A>GgnomAD
rs1254487580350P>ATOPMed
gnomAD
rs747902669352S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Ensembl
dbSNP
rs1276476611353I>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1269871658355P>TgnomAD
rs1828736471359R>GTOPMed
VAR_088267
COSV100734085
RCV001237563
RCV001760253
RCV002471052
rs1828723406
369I>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
374A>DVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs886043471374A>GVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1471929394374A>TgnomAD
rs886043471374A>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1331604813375T>IgnomAD
rs1251256829377R>CVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1415623982377R>LTOPMed
gnomAD
rs2131031896378L>SEnsembl
rs1457093327380I>VgnomAD
RCV001322715
RCV003135972
rs1828722725
382Q>E
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1828722657382Q>HEnsembl
RCV001311774
rs1828722595
385T>AVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV000729360
RCV001346989
rs1563977665
386K>E
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
VAR_078911
rs1554668420
387N>H
IBMPFD1; uncertain significance (UniProt)
Variant of uncertain significance (UniProt)UniProt
Ensembl
dbSNP
rs1410177803387N>SVariant of uncertain significance (Ensembl)gnomAD
CA373283055
RCV000517850
rs1410177803
387N>TVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
dbSNP
gnomAD
RCV001927729
rs761895823
388M>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs1470792208393D>AgnomAD
rs1470792208393D>GgnomAD
RCV002234843
rs1587122661
394V>M
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs768643940395D>EExAC
gnomAD
RCV001271084
rs1828721782
395D>G
FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV002046718
RCV003136195
rs2131031813
396L>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs746717302397E>KgnomAD
rs746717302397E>QgnomAD
rs758694686399V>IExAC
TOPMed
gnomAD
rs1414809572401N>DTOPMed
RCV001992255
rs148329626
401N>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
401N>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
404H>P
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs775408796419A>GVariant of uncertain significance (Ensembl)ExAC
gnomAD
RCV001990570
rs2131031304
422A>G
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001976035
rs2131031300
428D>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs2131031287430I>SEnsembl
rs771751916432L>IVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001949771
rs771751916
432L>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs186780925436T>IVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1392284756437I>VVariant of uncertain significance (Ensembl)gnomAD
rs1554668368439A>PEnsembl
CM092555
CM117903
COSV100734134
COSV62720532
rs1554668368
439A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
NCI-TCGA Cosmic
Ensembl
dbSNP
RCV000779579
rs955652521
440E>*
VCP-related disorder (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
RCV001343566
rs955652521
440E>K
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
RCV001234713
rs1828712085
442M>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA5039281
RCV000639652
RCV004678774
rs770514866
443N>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
450D>V
VCP-related multisystem proteinopathy (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs777223220452F>CExAC
RCV001769177
RCV001868584
rs755519450
453R>W
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
CA16609414
RCV000449528
rs1060499674
458Q>H
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs772569728465R>QExAC
gnomAD
rs1056112786466E>VEnsembl
RCV001991096
rs779392075
468V>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
478D>G
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs1180007490479I>VgnomAD
rs1251080168480G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs375649091486K>IVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
RCV001907289
RCV004536387
rs752765916
487R>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
487R>H
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1828706967493V>FEnsembl
rs1828700093497V>MTOPMed
rs1828699881501D>NgnomAD
rs773673950508M>IExAC
gnomAD
rs1430706449508M>LgnomAD
rs1430706449508M>VgnomAD
rs1458481328510P>LgnomAD
rs1389575996512K>RTOPMed
gnomAD
rs77248841524K>EEnsembl
rs779975862534E>DExAC
gnomAD
CA373279335
RCV000497568
rs1554668287
538N>KVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs765061140540I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
rs1563976782543K>NEnsembl
rs753528183550M>LExAC
gnomAD
rs753528183550M>VExAC
gnomAD
rs1828684850567R>CVariant of uncertain significance (Ensembl)TOPMed
COSV62720296
COSV62721928
rs201431036
567R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
dbSNP
rs142577424568Q>HBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV001765020
rs2131029566
570A>VVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1828684394575F>LgnomAD
rs866287267582I>VEnsembl
rs2131029519587G>R1000Genomes
rs776808332590I>TExAC
gnomAD
RCV001864719
rs1255802734
590I>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1828683227592D>GTOPMed
gnomAD
rs387906790592D>HPathogenic (Ensembl)gnomAD
VAR_065911
CA128985
RCV000023066
rs387906790
592D>N
FTDALS6 (UniProt)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
dbSNP
gnomAD
rs2131029479593G>AEnsembl
rs2131029472595G>VEnsembl
rs1828682893596A>STOPMed
gnomAD
RCV001948610
rs890637602
597A>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001758821
rs2131029448
603Q>HVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1385326324611M>TTOPMed
RCV002040767
rs2131029426
613T>A
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs775606754613T>IExAC
gnomAD
rs775606754613T>RExAC
gnomAD
rs1828681929616N>KTOPMed
rs1457011497619I>MgnomAD
CA10633605
RCV000306523
RCV000352284
rs886063891
619I>T
Amyotrophic Lateral Sclerosis, Dominant (ClinVar)
Inclusion Body Myopathy, Dominant (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV001248579
rs1828681453
622A>S
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV100734138
rs1587120279
625R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
rs1828680638633I>VEnsembl
rs1587120235634L>FEnsembl
rs1207909368643I>VgnomAD
rs868678589648P>SEnsembl
rs200169287653R>C1000Genomes
ExAC
gnomAD
rs200169287653R>G1000Genomes
ExAC
gnomAD
RCV000714166
RCV003353004
RCV003768116
rs1284380722
658K>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
662R>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
662R>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
665P>S
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001051610
rs754268174
666V>I
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
RCV000801506
rs757829124
672L>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
rs955893615674F>LTOPMed
rs754299259678M>TExAC
gnomAD
rs1828671642680N>SEnsembl
rs1587119721686D>AEnsembl
rs767762212687L>VExAC
gnomAD
rs1828671183688T>AgnomAD
rs1205247470690I>VTOPMed
CA373273844
RCV000523151
rs1490390928
693R>CLikely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
dbSNP
gnomAD
rs2131028782693R>HEnsembl
rs769793706698A>PExAC
gnomAD
rs747975110699I>VExAC
gnomAD
COSV62721638
rs1202389474
700R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs1202389474700R>SgnomAD
COSV62722144
rs1323248315
704E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
RCV001763742
rs2131028733
706E>DVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA192679485
RCV000592679
rs1000496477
707I>MVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs768462341707I>TExAC
gnomAD
RCV001343252
rs746617777
709R>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
rs1346289873710E>GgnomAD
RCV001241484
RCV002418829
rs779670266
711R>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
rs2131028688715T>AVariant of uncertain significance (Ensembl)Ensembl
rs1440024182717P>STOPMed
gnomAD
rs1356518831718S>LgnomAD
RCV001754893
rs2131026692
725D>NVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1828634548727P>LgnomAD
rs11546022729P>LEnsembl
rs373800909730E>DVariant of uncertain significance (Ensembl)ESP
ExAC
gnomAD
rs1828634208730E>KEnsembl
rs186657793731I>MBenign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
RCV001224616
rs758602597
732R>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
rs750571188732R>HExAC
gnomAD
rs758602597732R>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV100734398
rs1027386475
733R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
dbSNP
rs764036918741R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ExAC
TOPMed
dbSNP
gnomAD
rs760411781741R>HVariant of uncertain significance (Ensembl)ExAC
gnomAD
RCV001039023
rs771662410
743A>V
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs773912640744R>HExAC
TOPMed
gnomAD
RCV002039309
rs2131026595
745R>C
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV100734120
rs1828632857
745R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
Ensembl
rs866959068746S>FEnsembl
RCV001210057
rs1828632660
748S>C
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1828632521749D>NTOPMed
rs748732505750N>SExAC
TOPMed
gnomAD
rs1828632309752I>VVariant of uncertain significance (Ensembl)TOPMed
rs1828632233753R>QTOPMed
RCV001764763
rs2131026564
753R>WVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1411139426756E>AgnomAD
RCV002235557
rs1587117319
756E>K
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs769153776759A>SExAC
gnomAD
rs1828631680760Q>HgnomAD
rs1383633787766R>WgnomAD
rs1587117281773*>EEnsembl
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