Sugi Variant

Sugi Variant/VAPB

VAPB — 402 ClinVar variants

All ClinVar germline VAPB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →

2 Pathogenic · 14 Conflicting · 48 Benign · 18 Benign/Likely benign · 92 Likely benign · 228 Uncertain significance

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

⚑ Evidence disagreements 125

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 agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 95

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 25

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

All VAPB variants

Pathogenic 2

  • p.Pro56Ser Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Thr46Ile No assertion criteria amyotrophic lateral sclerosis type 8

Conflicting classifications of pathogenicity 14

  • c.574-4G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.58+5G>A Single submitter Inborn genetic diseases
  • c.*5095T>G Single submitter amyotrophic lateral sclerosis type 8
  • p.Arg184Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg184Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg223Trp Single submitter Inborn genetic diseases ⚠
  • p.Asp162Glu Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Gly219Val Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Leu10= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Pro111Leu Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Ser160del Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Ser206= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Val105= Single submitter Inborn genetic diseases
  • p.Val234Ile Single submitter Inborn genetic diseases ⚠

Benign 48

  • c.315+35C>T Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.316-128G>A Multiple submitters
  • c.316-17A>C Multiple submitters amyotrophic lateral sclerosis type 8
  • c.397-185G>A Multiple submitters
  • c.*1265G>C Multiple submitters amyotrophic lateral sclerosis type 8
  • c.*1282A>G Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2224C>T Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2819A>G Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*4052C>T Multiple submitters amyotrophic lateral sclerosis type 8
  • c.*4271A>G Multiple submitters amyotrophic lateral sclerosis type 8
  • c.*4446G>A Multiple submitters amyotrophic lateral sclerosis type 8
  • c.*4520T>C Multiple submitters amyotrophic lateral sclerosis type 8
  • c.*4868C>T Multiple submitters amyotrophic lateral sclerosis type 8
  • c.*5250T>C Multiple submitters amyotrophic lateral sclerosis type 8
  • c.*5298C>T Multiple submitters amyotrophic lateral sclerosis type 8
  • c.*6088C>T Multiple submitters amyotrophic lateral sclerosis type 8
  • c.*6182C>T Multiple submitters amyotrophic lateral sclerosis type 8
  • c.*753C>G Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*937G>C Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.211+238C>T Single submitter
  • c.212-228G>A Single submitter
  • c.315+138A>G Single submitter
  • c.315+220del Single submitter
  • c.315+319C>G Single submitter
  • c.316-3del Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.58+285C>T Single submitter
  • c.59-20G>A Single submitter amyotrophic lateral sclerosis type 8
  • c.*1335C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1413C>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1641G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1773G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*200_*201del Single submitter
  • c.*203_*204insTGAGGGGGAAAC Single submitter
  • c.*206_*207del Single submitter
  • c.*211_*213del Single submitter
  • c.*214_*215insAG Single submitter
  • c.*2671A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2766C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3968C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*4559A>G Single submitter amyotrophic lateral sclerosis type 8
  • c.*4923A>G Single submitter amyotrophic lateral sclerosis type 8
  • c.*4952C>T Single submitter amyotrophic lateral sclerosis type 8
  • c.*596C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*6619G>A Single submitter amyotrophic lateral sclerosis type 8
  • c.*75G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*884A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*995T>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Leu227= Single submitter amyotrophic lateral sclerosis type 8

Benign/Likely benign 18

  • c.574-5C>T Multiple submitters Inborn genetic diseases
  • c.59-4A>G Multiple submitters Inborn genetic diseases
  • c.-33C>G Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*5790G>A Multiple submitters amyotrophic lateral sclerosis type 8
  • p.Asp130Glu Multiple submitters amyotrophic lateral sclerosis type 8
  • p.Leu176= Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Met170Ile Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Pro35= Multiple submitters amyotrophic lateral sclerosis type 8
  • p.Thr164= Multiple submitters amyotrophic lateral sclerosis type 8
  • p.Tyr52= Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2320T>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2592G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3020A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3822C>G Single submitter amyotrophic lateral sclerosis type 8
  • c.*4072C>T Single submitter amyotrophic lateral sclerosis type 8
  • c.*4240G>C Single submitter amyotrophic lateral sclerosis type 8
  • c.*5005T>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*5612C>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant

Likely benign 92

  • c.574-96A>T Multiple submitters
  • c.*3118C>T Multiple submitters amyotrophic lateral sclerosis type 8
  • p.Ala65= Multiple submitters Inborn genetic diseases
  • p.Asp116= Multiple submitters Inborn genetic diseases
  • p.Glu217= Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Ser58= Multiple submitters Inborn genetic diseases
  • p.Val166Ile Multiple submitters amyotrophic lateral sclerosis type 8
  • c.211+11A>T Single submitter amyotrophic lateral sclerosis type 8
  • c.211+19G>A Single submitter amyotrophic lateral sclerosis type 8
  • c.212-13T>C Single submitter amyotrophic lateral sclerosis type 8
  • c.315+14G>A Single submitter amyotrophic lateral sclerosis type 8
  • c.315+14G>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.315+15C>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.315+15C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.316-17A>T Single submitter amyotrophic lateral sclerosis type 8
  • c.396+128dup Single submitter
  • c.396+13A>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.396+16G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.396+21_396+23del Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.396+9A>G Single submitter amyotrophic lateral sclerosis type 8
  • c.397-12G>T Single submitter amyotrophic lateral sclerosis type 8
  • c.397-16A>G Single submitter amyotrophic lateral sclerosis type 8
  • c.397-17C>T Single submitter amyotrophic lateral sclerosis type 8
  • c.397-18T>C Single submitter amyotrophic lateral sclerosis type 8
  • c.573+16C>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.573+18G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.573+41G>A Single submitter
  • c.574-14G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.574-15C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.574-7C>T Single submitter amyotrophic lateral sclerosis type 8
  • c.58+10A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.58+13G>A Single submitter amyotrophic lateral sclerosis type 8
  • c.58+14G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.58+18C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.58+20A>T Single submitter amyotrophic lateral sclerosis type 8
  • c.58+8C>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.58+9C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.59-11_59-10del Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.59-11T>C Single submitter amyotrophic lateral sclerosis type 8
  • c.59-16_59-15del Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.59-168G>A Single submitter
  • c.59-49C>G Single submitter
  • c.-137C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.-149del Single submitter
  • c.-150C>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1347A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2885G>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3274C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3566A>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3725T>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*375C>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3764C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3805G>C Single submitter amyotrophic lateral sclerosis type 8
  • c.*4265G>A Single submitter amyotrophic lateral sclerosis type 8
  • c.*467G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*5479C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*5851C>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*6578T>G Single submitter amyotrophic lateral sclerosis type 8
  • c.*726A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Ala63= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Arg199= Single submitter amyotrophic lateral sclerosis type 8
  • p.Arg55= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Asn138= Single submitter amyotrophic lateral sclerosis type 8
  • p.Asn39= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Asp134= Single submitter amyotrophic lateral sclerosis type 8
  • p.Asp37= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Glu103= Single submitter amyotrophic lateral sclerosis type 8
  • p.Glu128= Single submitter amyotrophic lateral sclerosis type 8
  • p.Glu82= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Gly33= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Ile233= Single submitter amyotrophic lateral sclerosis type 8
  • p.Ile61= Single submitter
  • p.Leu125= Single submitter amyotrophic lateral sclerosis type 8
  • p.Leu183= Single submitter amyotrophic lateral sclerosis type 8
  • p.Leu8= Single submitter amyotrophic lateral sclerosis type 8
  • p.Lys139= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Lys155= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Lys188= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Met93Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro111= Single submitter amyotrophic lateral sclerosis type 8
  • p.Pro126= Single submitter amyotrophic lateral sclerosis type 8
  • p.Pro21= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Ser146= Single submitter amyotrophic lateral sclerosis type 8
  • p.Ser84= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Thr23= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Thr97= Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Val153= Single submitter amyotrophic lateral sclerosis type 8
  • p.Val26= Single submitter amyotrophic lateral sclerosis type 8
  • p.Val69= Single submitter amyotrophic lateral sclerosis type 8
  • p.Val7= Single submitter amyotrophic lateral sclerosis type 8
  • c.-5G>A No assertion criteria VAPB-related disorder
  • c.-7A>G No assertion criteria VAPB-related disorder

Uncertain significance 228

  • p.Ala104Thr Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Arg182Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn39fs Multiple submitters amyotrophic lateral sclerosis type 8
  • p.Asp163Asn Multiple submitters amyotrophic lateral sclerosis type 8 ⚠
  • p.Asp24Asn Multiple submitters amyotrophic lateral sclerosis type 8 ⚠
  • p.Asp37Glu Multiple submitters amyotrophic lateral sclerosis type 8 ⚠
  • p.Asp62Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp77Asn Multiple submitters amyotrophic lateral sclerosis type 8 ⚠
  • p.Cys173Tyr Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Gln203Leu Multiple submitters amyotrophic lateral sclerosis type 8 ⚠
  • p.Glu165Lys Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Glu179Lys Multiple submitters Inborn genetic diseases
  • p.Glu5Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu5Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly215Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile141Thr Multiple submitters amyotrophic lateral sclerosis type 8 ⚠
  • p.Ile152Val Multiple submitters adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Ile67Val Multiple submitters amyotrophic lateral sclerosis type 8 ⚠
  • p.Lys168Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys168Val Multiple submitters amyotrophic lateral sclerosis type 8
  • p.Pro12Leu Multiple submitters amyotrophic lateral sclerosis type 8 ⚠
  • p.Pro56Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser158Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Thr97Ala Multiple submitters amyotrophic lateral sclerosis type 8 ⚠
  • p.Tyr78Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val153Met Multiple submitters amyotrophic lateral sclerosis type 8 ⚠
  • c.212-12T>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.212-139T>G Single submitter
  • c.212-1G>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.396+6T>C Single submitter amyotrophic lateral sclerosis type 8
  • c.397-3C>T Single submitter amyotrophic lateral sclerosis type 8
  • c.573+3A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.574-3T>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.58+3A>G Single submitter Inborn genetic diseases
  • c.59-3C>T Single submitter amyotrophic lateral sclerosis type 8
  • c.-12C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.-166G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.-283A>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1022C>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1050G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1168G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1295T>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1431G>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1451GT[17] Single submitter
  • c.*1451GT[20] Single submitter
  • c.*1563G>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*172A>C Single submitter amyotrophic lateral sclerosis type 8
  • c.*1800A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1905C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1919A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*1951A>G Single submitter amyotrophic lateral sclerosis type 8
  • c.*2012G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2350A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2571G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2676A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2733G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2748A>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2850T>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*2876A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3001T>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3014C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3027A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3118C>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3134G>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3192T>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3260C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3305C>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3315A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*348C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3493G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3516C>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3628A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3643G>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3701C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3738A>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*382G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*3870G>C Single submitter amyotrophic lateral sclerosis type 8
  • c.*3942C>T Single submitter amyotrophic lateral sclerosis type 8
  • c.*4023A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*4206G>A Single submitter amyotrophic lateral sclerosis type 8
  • c.*4327A>G Single submitter amyotrophic lateral sclerosis type 8
  • c.*436C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*4374A>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*4394C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*4418C>T Single submitter amyotrophic lateral sclerosis type 8
  • c.*4637G>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*480T>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*4862A>G Single submitter amyotrophic lateral sclerosis type 8
  • c.*4929C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*5114G>A Single submitter amyotrophic lateral sclerosis type 8
  • c.*5145T>C Single submitter amyotrophic lateral sclerosis type 8
  • c.*5283C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*5352C>T Single submitter amyotrophic lateral sclerosis type 8
  • c.*5453C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*5500A>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*5616T>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*574G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*5769G>A Single submitter amyotrophic lateral sclerosis type 8
  • c.*5771T>G Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*5789C>T Single submitter amyotrophic lateral sclerosis type 8
  • c.*5795T>G Single submitter amyotrophic lateral sclerosis type 8
  • c.*5815G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*5832G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*602G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*6068T>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*6087A>G Single submitter amyotrophic lateral sclerosis type 8
  • c.*6238T>C Single submitter amyotrophic lateral sclerosis type 8
  • c.*624C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*6354G>A Single submitter amyotrophic lateral sclerosis type 8
  • c.*6404C>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*6462G>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*6631G>T Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*6746C>T Single submitter amyotrophic lateral sclerosis type 8
  • c.*6842A>G Single submitter amyotrophic lateral sclerosis type 8
  • c.*774G>A Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • c.*861T>C Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Ala145Val Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Ala210Glu Single submitter ⚠
  • p.Ala210Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala212Asp Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ala226Asp Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Ala226Val Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Ala63Val Single submitter amyotrophic lateral sclerosis type 8
  • p.Ala65Thr Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ala65Val Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ala95Pro Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ala95Ser Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Arg175Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg184Leu Single submitter ⚠
  • p.Arg197Trp Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Arg223Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg223Pro Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Arg38Gln Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Arg50Leu Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Arg51Gly Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Asn129Tyr Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Asn187Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn29Asp Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Asn29Ser Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Asn39Ile Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Asn81Ser Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Asp101His Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Asp37Ala Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Asp37His Single submitter amyotrophic lateral sclerosis type 8
  • p.Asp98Tyr Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Cys41Arg Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Cys41fs Single submitter amyotrophic lateral sclerosis type 8
  • p.Cys53fs Single submitter amyotrophic lateral sclerosis type 8
  • p.Gln13Pro Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Gln181Arg Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Gln189fs Single submitter amyotrophic lateral sclerosis type 8
  • p.Gln6Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln6Glu Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Gln74Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu112Ala Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Glu11Gln Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Glu15Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu171Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu171Val Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Glu186del Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Glu217Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu82Asp Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Gly178Ser Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Gly219Arg Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Gly235Val Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.His86Asp Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.His86Gln Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ile137Met Single submitter Inborn genetic diseases ⚠
  • p.Ile137Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile141Val Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ile152Thr Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ile208Val Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Ile237Val Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ile241Thr Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Ile60Val Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ile61Val Single submitter ⚠
  • p.Leu114Val Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Leu125Met Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Leu161Ser Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Leu196Pro Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Leu220Arg Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Leu224Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu225Ser Single submitter amyotrophic lateral sclerosis type 8
  • p.Leu227Pro Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Leu230Val Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Leu243Val Single submitter Inborn genetic diseases ⚠
  • p.Lys118Asn Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Lys168Met Single submitter Inborn genetic diseases ⚠
  • p.Lys174Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys17Thr Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Lys188Arg Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Lys188Thr Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Lys240Arg Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Lys31Asn Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Lys3Glu Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Met102Thr Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Met115Thr Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Met198Ile Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Met198Leu Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Met89Leu Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Phe123Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe231Leu Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Pro126Ala Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Pro12Ser Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Pro151Ser Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Pro35Leu Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Pro35Ser Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Pro56Asp Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant
  • p.Pro75Arg Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Ser154Thr Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ser204Gly Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ser209Leu Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ser58fs Single submitter
  • p.Ser70Phe Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ser92Cys Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Ser9Gly Single submitter Inborn genetic diseases ⚠
  • p.Thr148Arg Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Thr201Ala Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Thr201Ile Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Thr201Ser Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Thr214Ala Single submitter amyotrophic lateral sclerosis type 8 ⚠
  • p.Thr28Ala Single submitter adult-onset proximal spinal muscular atrophy, autosomal dominant ⚠
  • p.Val105fs Single submitter
  • p.Val122Met Single submitter
  • p.Val135Ile Single submitter Inborn genetic diseases ⚠
  • p.Val26Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu192Gly No assertion criteria VAPB-related disorder ⚠