Sugi Variant

Sugi Variant/TOR1AIP1

TOR1AIP1 — 358 ClinVar variants

All ClinVar germline TOR1AIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

5 Pathogenic · 14 Likely pathogenic · 9 Conflicting · 26 Benign · 5 Benign/Likely benign · 138 Likely benign · 161 Uncertain significance

Full TOR1AIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

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 3

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

Predictors lean, ClinVar uncertain 114

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 TOR1AIP1 variants

Pathogenic 5

  • p.Glu216Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Arg195Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gln255Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Glu222fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Glu62fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2Y

Likely pathogenic 14

  • c.906_907+5del Multiple submitters TOR1AIP1-related disorder
  • p.Arg321Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.476-1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.553+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.554-4_554-1delinsAC Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.739+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.739+2T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.797-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.797-2A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.907+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ala476Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Asp241fs Single submitter
  • p.Glu101fs Single submitter Autosomal recessive TOR1AIP1-related disorders
  • p.Glu204Ter Single submitter TOR1AIP1-related disorder

Conflicting classifications of pathogenicity 9

  • c.553+1_553+10del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.554-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.797-1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.838+2T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Arg194Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Gln165Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.His551Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ser277Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Val177Ile Single submitter Inborn genetic diseases ⚠

Benign 26

Benign/Likely benign 5

  • c.964+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Arg192= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Pro316= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ser143Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Val177_Arg178insSer Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y

Likely benign 138

  • c.475+17dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.476-20_476-19del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.553+78T>C Multiple submitters
  • c.554-23G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.610+13_610+16del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.610+7G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.652+286A>G Multiple submitters
  • c.740-9A>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.964+131A>G Multiple submitters
  • c.964+140A>G Multiple submitters
  • c.965-10del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ala418= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Asp383Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gln181= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gln275= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gln288= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gln391= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Leu307= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Lys385= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Pro142= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Pro485= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ser565= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Tyr200= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Tyr256= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Val185= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Val232= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.476-20T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.476-9_476-8del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.553+10G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.553+10G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.553+14A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.553+19T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.553+21del Single submitter
  • c.554-10A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.554-11T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.554-12del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.554-8A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.610+11G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.610+15G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.610+295_610+298del Single submitter
  • c.610+298T>A Single submitter
  • c.611-10T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.611-16T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.611-17A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.611-20T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.611-213G>A Single submitter
  • c.611-4C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.652+114G>A Single submitter
  • c.652+20_652+24del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.653-13T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.653-17T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.653-18T>C Single submitter
  • c.653-4_653-3del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.653-6C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.653-6C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.653-8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.739+17T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.739+19C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.739+7T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.739+9G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.740-18C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.740-236dup Single submitter
  • c.740-301C>T Single submitter
  • c.797-121A>G Single submitter
  • c.797-20A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.797-229TA[18] Single submitter
  • c.797-229TA[19] Single submitter
  • c.838+11G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.838+201C>T Single submitter
  • c.839-13G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.839-16T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.839-272G>A Single submitter
  • c.907+15C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.907+17_907+18del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.908-5A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.908-7C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.964+102G>A Single submitter
  • c.965-15T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.*11del Single submitter
  • p.Ala162= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ala183= Single submitter
  • p.Ala330= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ala348= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ala408= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ala441= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ala507= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Arg298= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Arg300= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Arg416= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Arg443= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Asn399= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Asn500= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Asp160= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Asp226= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gln255= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gln366= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gln428His Single submitter
  • p.Gln452= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gln463= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Glu216= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Glu420= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gly282= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gly381= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gly472= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gly559= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ile180= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ile444= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ile581= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Leu340= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Leu459= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Leu567= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Leu583= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Lys175= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Lys211= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Lys334= Single submitter
  • p.Lys470= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Lys539= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Phe260= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Phe354= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Phe355= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Pro327= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Pro358= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ser173= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ser179= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ser207= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ser277= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ser390= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ser400= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Thr249= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Thr250= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Thr363= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Thr489= Single submitter
  • p.Val177= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Val190= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Val333= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Val360= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Val538= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Val81= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y

Uncertain significance 161

  • c.796+5G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.838+3A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.964+5G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ala10Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ala346Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ala346Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala450Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala486Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg404Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg404Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg440His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg443Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg480His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg563His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg563Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Asn213Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Asn303Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Asn550Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Asp41Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Gln380His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln452Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Glu221Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Glu222Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu222del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Glu419Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly38Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Leu151Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Leu347Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Lys285Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Lys388Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Lys537Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ser102Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ser252Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ser315Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ser400Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser94Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Thr124Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr171Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Thr286Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Thr363Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Trp338Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Val461Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Val506Ala Multiple submitters Inborn genetic diseases ⚠
  • c.610+3A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.652+18A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.907+6T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.964+1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • c.965-3T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ala162Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ala183Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ala295Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ala408Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ala414Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Ala415Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ala418Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg192Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg194His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg195Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg251Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg300Lys Single submitter ⚠
  • p.Arg321Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg337Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg416Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg437Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg440Cys Single submitter ⚠
  • p.Arg443Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Arg55Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Asn313Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Asn558Ile Single submitter Inborn genetic diseases ⚠
  • p.Asn575Asp Single submitter ⚠
  • p.Asn575fs Single submitter
  • p.Asp226Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Asp226His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Asp417Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Asp445Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Asp448Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Asp69Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Gln113Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Gln265Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Gln284His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Gln322Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Gln328Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Gln428Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Gln473His Single submitter ⚠
  • p.Glu244Val Single submitter Inborn genetic diseases ⚠
  • p.Glu258Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu427fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Glu499Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Glu516Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu574fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Glu77Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Gly218Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Gly282Arg Single submitter Inborn genetic diseases ⚠
  • p.His397Gln Single submitter ⚠
  • p.His402Tyr Single submitter
  • p.His498Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile172Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ile257Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ile257Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ile409Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile409Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ile409Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ile444Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ile491Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Leu198Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Leu311Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Leu386Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu394Pro Single submitter ⚠
  • p.Leu523Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Leu557fs Single submitter
  • p.Leu557Gln Single submitter ⚠
  • p.Leu557Pro Single submitter ⚠
  • p.Leu569Gln Single submitter Inborn genetic diseases ⚠
  • p.Leu569Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Lys334Arg Single submitter Inborn genetic diseases ⚠
  • p.Phe481Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Phe535Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Phe59Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Pro24Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Pro276Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Pro276Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Pro276Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro276Thr Single submitter ⚠
  • p.Pro485His Single submitter Inborn genetic diseases ⚠
  • p.Pro546Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser169Arg Single submitter ⚠
  • p.Ser173Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ser207Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ser228Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser239Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser264Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ser305Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser319Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser351Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ser438Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Ser488Cys Single submitter Inborn genetic diseases
  • p.Ter584Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Thr176Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Thr234Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Thr234Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Thr270Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Thr299Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Thr318fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y
  • p.Thr47Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Thr489Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Thr489Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Thr541Ile Single submitter Inborn genetic diseases ⚠
  • p.Tyr379fs Single submitter
  • p.Tyr433Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Tyr493Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Tyr493His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Tyr549Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Val235Ile Single submitter Inborn genetic diseases ⚠
  • p.Val278Leu Single submitter Inborn genetic diseases ⚠
  • p.Val360Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Val365Ile Single submitter Inborn genetic diseases ⚠
  • p.Val439Ile Single submitter Inborn genetic diseases ⚠
  • p.Val538Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Val571Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Val66Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Y ⚠
  • p.Glu482Ala No assertion criteria ⚠