Sugi Variant

Sugi Variant/VCP

VCP — 763 ClinVar variants

All ClinVar germline VCP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →

16 Pathogenic · 8 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 34 Conflicting · 31 Benign · 22 Benign/Likely benign · 332 Likely benign · 294 Uncertain significance

Full VCP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 241

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 11

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 181

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 181

Predictors split 47

The independent predictors disagree with each other — read with care.

All VCP variants

Pathogenic 16

  • p.Arg155His Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg159His Multiple submitters VCP-related disorder
  • p.Arg93Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala232Glu Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • p.Arg155Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg625Pro Single submitter Global developmental delay
  • p.Arg89Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg95Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asn91Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gly157Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gly97Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Lys651fs Single submitter Inborn genetic diseases
  • p.Met158Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Thr262Ala Single submitter
  • p.Arg159Gly No assertion criteria frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asp592Asn No assertion criteria frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Pathogenic/Likely pathogenic 8

  • p.Arg155Cys Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Arg155Gly Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Arg159Cys Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Arg191Gln Multiple submitters VCP-related disorder
  • p.Arg191Pro Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gly156Ser Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gly271Asp Multiple submitters
  • p.Pro137Leu Multiple submitters Charcot-Marie-Tooth disease type 2Y

Likely pathogenic 26

  • p.Arg256Gly Multiple submitters Childhood Onset VCP-related Neurodevelopmental Disorder
  • p.Glu185Lys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.577-2A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala160Thr Single submitter
  • p.Arg159Ser Single submitter amyotrophic lateral sclerosis type 6
  • p.Arg191Gly Single submitter VCP-related disorder
  • p.Arg358Gln Single submitter Inborn genetic diseases
  • p.Arg362Cys Single submitter Childhood Onset VCP-related Neurodevelopmental Disorder
  • p.Arg693Cys Single submitter
  • p.Arg95His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg95Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asn91Lys Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Asp395Gly Single submitter
  • p.Asp98Glu Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • p.Glu261Ala Single submitter
  • p.Gly128Ser Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly248Arg Single submitter VCP-related disorder
  • p.His406Arg Single submitter Inborn genetic diseases
  • p.Ile216Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu96Val Single submitter Progressive muscle weakness ⚠
  • p.Lys251Asn Single submitter Childhood Onset VCP-related Neurodevelopmental Disorder
  • p.Met219Val Single submitter Inborn genetic diseases ⚠
  • p.Pro137Ser Single submitter Alzheimer disease
  • p.Pro188His Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • p.Ser541Tyr Single submitter Childhood Onset VCP-related Neurodevelopmental Disorder
  • p.Thr56Ala Single submitter

Conflicting classifications of pathogenicity 34

  • c.1194+3G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1360-6T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.18-4C>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2161-4A>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.446-4G>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • c.446-5C>T Single submitter Inborn genetic diseases
  • c.*1040T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • c.*4G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.*700C>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala142= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ala160Pro Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ala528= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Arg155Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg487His Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Arg86= Single submitter Inborn genetic diseases
  • p.Arg89Trp Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Arg93His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg95Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg95Pro Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Asn296= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asn401Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly125Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Gly128= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gly128Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Gly318= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gly621= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ile114Val Single submitter Inborn genetic diseases ⚠
  • p.Ile369Thr Single submitter Charcot-Marie-Tooth disease type 2Y ⚠
  • p.Ile643= Single submitter Inborn genetic diseases
  • p.Phe265Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Phe267del Single submitter Inborn genetic diseases
  • p.Pro496= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Thr761= Single submitter Inborn genetic diseases
  • p.Tyr244= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Benign 31

Benign/Likely benign 22

  • c.1081+17C>T Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1082-9G>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1360-14C>G Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1482+18A>G Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.812-7C>G Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.-267C>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.*12C>T Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • p.Ala308= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ala743= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Arg625= Multiple submitters Inborn genetic diseases
  • p.Asp364= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asp802= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gln568= Multiple submitters Inborn genetic diseases
  • p.Glu738= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ile27Val Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ile309= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ile731= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu278= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu804= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Lys18= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.*1001C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.*15C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Likely benign 332

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1081+154C>G Multiple submitters
  • c.1194+9A>G Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1194+9ATG[2] Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1695+11A>G Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1696-4A>G Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2161-6C>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.2315+8G>C Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.2315+8G>T Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2316-4A>G Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2316-8G>A Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.303-21_303-19del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.446-11T>C Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.446-17A>G Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.577-21_577-18del Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.811+14T>C Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.811+19C>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala228= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala339= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Arg210= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asn443= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Cys184= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Glu498= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Glu650= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly684= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gly97= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.His115= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ile629= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Pro461= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Pro472= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ser457= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ser78= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Val325= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Val71= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Val722= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1081+11C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1081+15T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1081+17C>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1081+27C>T Single submitter
  • c.1081+8C>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1081+8C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1081+9T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1082-8_1082-7insTGTTTGTGTAT Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1194+12A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1194+8G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1195-12C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1195-14A>T Single submitter
  • c.1195-15G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1195-9T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.129+11G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.129+12C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.129+16A>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.129+8G>A Single submitter
  • c.130-12T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.130-19C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.130-20C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.130-6C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1359+11C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1359+15C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1359+16G>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1359+17T>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1359+8C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1359+9C>T Single submitter
  • c.1360-12C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1360-20A>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1360-4C>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1360-5T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1360-9C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1482+10C>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1482+10C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1482+14G>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1482+9A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1483-14C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1483-20C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1483-4C>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1483-6T>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1695+12T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1695+167del Single submitter
  • c.1695+16C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1695+18G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1696-11_1696-10insA Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1696-15C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1696-5dup Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1696-7C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1696-8T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1696-9C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.17+17C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.17+8_17+9del Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.18-10del Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.18-6T>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.18-6T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.18-8C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.18-9_18-8del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.2005-11G>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2005-14G>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2005-19C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2005-20A>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2005-6T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.2005-71G>A Single submitter
  • c.2005-9T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2160+14C>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.2160+297T>G Single submitter
  • c.2161-20T>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.2161-5T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.2315+10T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2315+18A>G Single submitter
  • c.2316-11C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.2316-48C>T Single submitter
  • c.2316-5C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.302+10G>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.302+11G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.302+12G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.302+198C>T Single submitter
  • c.302+2TG[3] Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.302+2TG[5] Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.302+8T>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.303-160C>T Single submitter
  • c.303-4T>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.303-5C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.445+10A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.445+7G>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.445+80_445+81dup Single submitter
  • c.445+92del Single submitter
  • c.446-11T>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.446-15T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.446-16C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.446-19G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.446-4G>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.446-7C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.446-7C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.446-9C>T Single submitter
  • c.576+10C>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.576+10C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.576+12C>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.576+14_576+15del Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.576+15T>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.577-10C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.577-15C>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.577-15C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.577-266T>C Single submitter
  • c.577-9C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.708+11T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.708+12G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.708+14G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.708+16T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.708+16T>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.708+19G>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.708+20G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.709-16_709-15del Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.709-16C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.709-18C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.709-18C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.709-19_709-18del Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.709-4A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.811+13G>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.811+13G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.811+13G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.811+17A>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.811+8A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.811+96G>A Single submitter
  • c.811+97C>T Single submitter
  • c.811+9T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.812-17A>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.812-19C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.812-19C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.812-7C>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.812-9T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.945+11A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.945+11dup Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.945+16A>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.946-12del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.946-13C>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.946-13C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.946-15A>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.946-17A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.946-17dup Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.946-20C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.946-8T>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.-233GCTGCC[5] Single submitter
  • c.*14G>A Single submitter
  • p.Ala15= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ala177= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala264= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala293= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ala299= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala439= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala446= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala5= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala537= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala622= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ala632= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala676= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ala698= Single submitter
  • p.Ala781= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Arg191= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Arg225= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Arg365= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Arg560= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Arg64= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Arg733= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Arg741= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Arg766= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Asn85= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Asp121= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Asp29= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Asp35= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Asp393= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asp55= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Asp577= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asp592= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asp725= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asp98= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Cys174= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Cys209= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Cys522= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Cys69= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Cys695= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gln778= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Glu124= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Glu185= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Glu221= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Glu321= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Glu379= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Glu397= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Glu433= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Glu554= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Glu724= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly125= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gly157= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly202= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly208= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gly234= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly245= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gly248= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly271= Single submitter
  • p.Gly280= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly361= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly405= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly507= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly523= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gly789= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly790= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly792= Single submitter
  • p.His317= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.His404= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.His735= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ile100= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ile206= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ile241= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ile269= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ile369= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ile479= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ile628= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ile70= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ile703= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ile707= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu117= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu12= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu130= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu140= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu222= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu224= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu242= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu243= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu253= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu268= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu328= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu335= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu414= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu429= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu445= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu489= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu49= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Leu492= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu504= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu574= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu58= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu762= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Leu96= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Lys524= Single submitter
  • p.Lys529= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Lys614= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Met508Ile Single submitter ⚠
  • p.Phe131= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Phe539= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Phe618= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Pro104= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Pro106= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Pro137= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Pro170= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Pro223= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Pro237= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Pro246= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Pro272= Single submitter
  • p.Pro298= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Pro350= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Pro44= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Pro648= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Pro717= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ser3= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ser326= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Uncertain significance 294

  • c.1482+4G>A Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.811+2T>C Multiple submitters Inborn genetic diseases
  • c.*63G>A Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • c.*64C>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala31Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala419Gly Multiple submitters ⚠
  • p.Ala743Val Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Arg113His Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg25Trp Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg453Gln Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg453Trp Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Arg487Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg65Gln Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg662Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg662His Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Arg711Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg741Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg741His Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Arg745His Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Asn21Ser Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Asn387Ser Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Asn387Thr Multiple submitters ⚠
  • p.Asn443His Multiple submitters Inborn genetic diseases
  • p.Asn616fs Multiple submitters Inborn genetic diseases
  • p.Asp478Gly Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Asp79Glu Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Gln382Glu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Glu185Asp Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Glu294Gly Multiple submitters ⚠
  • p.Gly271Ala Multiple submitters ⚠
  • p.Gly4Glu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Gly782Ala Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Gly782Val Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.His404Pro Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ile151Val Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ile189Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ile233Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ile241Thr Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ile540Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu396Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Leu432Val Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Lys112Arg Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Lys277Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys386Glu Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Lys62Arg Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Lys658Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys658Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met332Thr Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Met388Val Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Pro727Thr Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ser794Asn Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Thr14Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Tyr134Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Val133Leu Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Val399= Multiple submitters inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.130-11T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.130-3C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.130-9T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1483-5C>T Single submitter
  • c.1695+7_1695+8delinsCG Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.1696-34_1716dup Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.1696-3C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.2004+8C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2161-3T>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.2315+12G>A Single submitter
  • c.2315+6T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.303-3C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.445+5G>C Single submitter Inborn genetic diseases
  • c.445+8C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.446-3C>T Single submitter
  • c.446-4_446-3delinsAT Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.709-2A>G Single submitter
  • c.811+2_811+3inv Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.811+5G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.812-3C>A Single submitter
  • c.812-6T>G Single submitter Inborn genetic diseases
  • c.945+6A>C Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • c.-1C>T Single submitter
  • c.-215A>G Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • c.-233GCTGCC[4] Single submitter
  • c.-250C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.-360G>C Single submitter
  • c.-370G>A Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • c.-53C>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • c.*172C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.*184G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.*216G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.*217G>T Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • c.*347C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.*367G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.*382C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.*55G>A Single submitter
  • c.*788G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • c.*885G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ala142Val Single submitter ⚠
  • p.Ala160Ser Single submitter Adult onset neurodegenerative disorder ⚠
  • p.Ala160Val Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ala2Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala374Asp Single submitter ⚠
  • p.Ala374Thr Single submitter ⚠
  • p.Ala400Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ala422Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ala463fs Single submitter
  • p.Ala532Thr Single submitter ⚠
  • p.Ala570Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala570Val Single submitter ⚠
  • p.Ala597Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ala622Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg225Lys Single submitter ⚠
  • p.Arg256Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg25Gln Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Arg287Leu Single submitter ⚠
  • p.Arg322= Single submitter
  • p.Arg322Gln Single submitter ⚠
  • p.Arg358Trp Single submitter ⚠
  • p.Arg377Cys Single submitter ⚠
  • p.Arg453= Single submitter
  • p.Arg465Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg567Cys Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Arg693Leu Single submitter ⚠
  • p.Arg708Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg709Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg732Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg744Cys Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Arg745Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Arg753Trp Single submitter ⚠
  • p.Arg83Gln Single submitter ⚠
  • p.Arg86Thr Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Asn270= Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Asn296Ser Single submitter
  • p.Asn33Ser Single submitter ⚠
  • p.Asn401Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Asn538Lys Single submitter ⚠
  • p.Asn750Asp Single submitter ⚠
  • p.Asn800Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn85Ser Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Asn90Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asn90Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Asn91Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Asp107His Single submitter Inborn genetic diseases ⚠
  • p.Asp107Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Asp10Glu Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 ⚠
  • p.Asp193Gly Single submitter ⚠
  • p.Asp304del Single submitter
  • p.Asp333Gly Single submitter ⚠
  • p.Asp410Asn Single submitter ⚠
  • p.Asp428Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Asp431= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Asp450Val Single submitter VCP-related multisystem proteinopathy ⚠
  • p.Asp478Val Single submitter ⚠
  • p.Asp640Val Single submitter ⚠
  • p.Asp649Glu Single submitter ⚠
  • p.Asp725Asn Single submitter ⚠
  • p.Asp799Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Asp801Glu Single submitter Inborn genetic diseases ⚠
  • p.Cys105Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Cys184Tyr Single submitter ⚠
  • p.Cys77Phe Single submitter ⚠
  • p.Cys77Tyr Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Gln103Arg Single submitter
  • p.Gln19Arg Single submitter ⚠
  • p.Gln212His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Gln458His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Gln603His Single submitter ⚠
  • p.Gln778Arg Single submitter ⚠
  • p.Glu162Asp Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Glu192Lys Single submitter ⚠
  • p.Glu195Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Glu321Lys Single submitter Charcot-Marie-Tooth disease type 2Y ⚠
  • p.Glu440Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Glu466_Thr467del Single submitter
  • p.Glu470Gln Single submitter ⚠
  • p.Glu546Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Glu66Lys Single submitter ⚠
  • p.Glu701Lys Single submitter ⚠
  • p.Glu704Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Glu704Lys Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Glu706Asp Single submitter ⚠
  • p.Glu712Gln Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Glu721Ala Single submitter ⚠
  • p.Glu730Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Glu738Asp Single submitter
  • p.Glu756Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Gly111Ser Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Gly128Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Gly149Glu Single submitter ⚠
  • p.Gly156Val Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Gly202Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Gly271Arg Single submitter ⚠
  • p.Gly334Ser Single submitter ⚠
  • p.Gly4Arg Single submitter
  • p.Gly4Val Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Gly782Asp Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Gly790Ser Single submitter Inborn genetic diseases ⚠
  • p.His226Leu Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.His499Gln Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ile100Val Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ile119Val Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ile126Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ile151Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ile175Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ile241Met Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ile241Ser Single submitter ⚠
  • p.Ile254Phe Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ile301del Single submitter Childhood Onset VCP-related Neurodevelopmental Disorder
  • p.Ile301Val Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ile303Val Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ile32Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ile353Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ile369Phe Single submitter
  • p.Ile437Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ile437Val Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Ile582Met Single submitter ⚠
  • p.Ile590Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ile620Val Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ile707Met Single submitter ⚠
  • p.Ile752Val Single submitter Inborn genetic diseases ⚠
  • p.Ile82Leu Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Leu130Pro Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Leu198Val Single submitter ⚠
  • p.Leu222Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Leu229Phe Single submitter Childhood Onset VCP-related Neurodevelopmental Disorder ⚠
  • p.Leu331Arg Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Leu49Ser Single submitter ⚠
  • p.Leu634His Single submitter ⚠
  • p.Leu639His Single submitter ⚠
  • p.Leu639Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Leu672Val Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 ⚠
  • p.Lys136Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Lys20Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys486Ile Single submitter Inborn genetic diseases ⚠
  • p.Lys658Gln Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Lys663Arg Single submitter ⚠
  • p.Met158Ile Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Met344Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Met442Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Met550Val Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Phe131Ser Single submitter ⚠
  • p.Phe163Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Phe267Ile Single submitter Inborn genetic diseases ⚠
  • p.Pro104Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Pro188Leu Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 ⚠
  • p.Pro298Ser Single submitter ⚠
  • p.Pro355Thr Single submitter ⚠
  • p.Pro372Leu Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Pro496Ser Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Pro510Ser Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Pro571Leu Single submitter ⚠
  • p.Pro665Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Pro717Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ser171Arg Single submitter ⚠
  • p.Ser171Asn Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ser171Gly Single submitter ⚠
  • p.Ser171Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ser197= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • p.Ser276Thr Single submitter ⚠
  • p.Ser42Pro Single submitter ⚠
  • p.Ser748Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Ser784Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser78Cys Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Ser78Tyr Single submitter Inborn genetic diseases ⚠
  • p.Thr122Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Thr127Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Thr385Ala Single submitter ⚠
  • p.Thr436Ile Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • p.Thr448Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Thr613Ala Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Thr679Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Thr715Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Thr797Arg Single submitter ⚠
  • p.Tyr134His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Tyr134Phe Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Tyr517Cys Single submitter ⚠
  • p.Val123Leu Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Val123Met Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Val133Ile Single submitter ⚠
  • p.Val154Phe Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Val161Gly Single submitter ⚠
  • p.Val161Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Val181Met Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Val28Ile Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Val367Ile Single submitter Inborn genetic diseases ⚠
  • p.Val38Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Val394Met Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Val39Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Val468Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Val471Leu Single submitter ⚠
  • p.Val666Ile Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Val666Leu Single submitter Inborn genetic diseases ⚠
  • p.Val670Met Single submitter ⚠
  • p.Val71Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ⚠
  • p.Val99Ala Single submitter inclusion body myopathy with Paget disease of bone and frontotemporal dementia ⚠
  • p.Arg89fs No assertion criteria
  • p.Ile175Thr No assertion criteria VCP-related disorder ⚠