TIA1 — 335 ClinVar variants
All ClinVar germline TIA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →
1 Pathogenic/Likely pathogenic · 5 Conflicting · 32 Benign · 9 Benign/Likely benign · 131 Likely benign · 157 Uncertain significance
Full TIA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 120
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TIA1 p.Glu384Lys
Pathogenic/Likely pathogenic
Multiple submitters
TIA1-related disorder
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TIA1 p.Asn357Ser
Conflicting
Single submitter
amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
-
TIA1 p.Gly336Ser
Conflicting
Single submitter
distal myopathy, Welander type
-
TIA1 p.Pro362Leu
Conflicting
Single submitter
distal myopathy, Welander type
-
TIA1 p.Thr95Ser
Conflicting
Single submitter
distal myopathy, Welander type
Predictors lean, ClinVar uncertain 90
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TIA1 p.Ala331Val
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Arg231His
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Asn257Ile
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Cys33Phe
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Gln228Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TIA1 p.Glu52Ala
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Glu52Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TIA1 p.His58Asn
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Leu288Pro
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Leu63Ser
Uncertain significance
Multiple submitters
distal myopathy, Welander type
- TIA1 p.Lys77Arg Uncertain significance Multiple submitters
-
TIA1 p.Met334Ile
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Met370Val
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Pro187Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TIA1 p.Ser133Leu
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Thr119Asn
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Thr347Ile
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Tyr48Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TIA1 p.Val294Met
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Val360Met
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Ala127Val
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ala142Val
Uncertain significance
Single submitter
distal myopathy, Welander type
- TIA1 p.Ala163Thr Uncertain significance Single submitter
-
TIA1 p.Ala188Ser
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ala188Thr
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ala263Ser
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ala265Gly
Uncertain significance
Single submitter
distal myopathy, Welander type
- TIA1 p.Ala331Thr Uncertain significance Single submitter
-
TIA1 p.Ala381Thr
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ala62Thr
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Arg101His
Uncertain significance
Single submitter
distal myopathy, Welander type
- TIA1 p.Arg175Lys Uncertain significance Single submitter
- TIA1 p.Arg244Gln Uncertain significance Single submitter
- TIA1 p.Arg255Gly Uncertain significance Single submitter
-
TIA1 p.Arg255Trp
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Arg57His
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Asn196Asp
Uncertain significance
Single submitter
distal myopathy, Welander type
- TIA1 p.Asn257Thr Uncertain significance Single submitter
-
TIA1 p.Asn373Asp
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Asn373Ser
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Asp104Val
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Asp3Asn
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Cys218Arg
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Cys218Ser
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Gln100Arg
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Gln199His
Uncertain significance
Single submitter
distal myopathy, Welander type
- TIA1 p.Gln342Glu Uncertain significance Single submitter
-
TIA1 p.Gln346His
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Gln361Pro
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Gln386Pro
Uncertain significance
Single submitter
distal myopathy, Welander type
- TIA1 p.Glu286Ala Uncertain significance Single submitter
- TIA1 p.Glu4Gln Uncertain significance Single submitter
-
TIA1 p.Gly173Arg
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Gly284Arg
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Gly301Val
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Gly310Ser
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Gly343Val
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.His259Asn
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.His54Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TIA1 p.His58Arg
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ile122Thr
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ile243Thr
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Leu14Arg
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Leu24Val
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Leu288Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TIA1 p.Lys145Thr
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Met230Thr
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Met290Thr
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Met323Val
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Met66Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TIA1 p.Phe246Tyr
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Phe253Cys
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Phe53Leu
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Pro186His
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Pro305Ser
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Pro324Ser
Uncertain significance
Single submitter
distal myopathy, Welander type
- TIA1 p.Pro375Leu Uncertain significance Single submitter
-
TIA1 p.Ser133Pro
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ser191Ile
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ser212Gly
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ser212Ile
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ser268Thr
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Thr183Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TIA1 p.Thr82Ile
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Val110Ile
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Val267Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
-
TIA1 p.Val269Ile
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Val294Leu
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Val329Ile
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Val329Phe
Uncertain significance
Single submitter
distal myopathy, Welander type
Predictors split 25
The independent predictors disagree with each other — read with care.
-
TIA1 p.Asp121Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TIA1 p.His105Tyr
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Thr91Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TIA1 p.Val11Ile
Uncertain significance
Multiple submitters
distal myopathy, Welander type
-
TIA1 p.Arg231Cys
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Arg231Ser
Likely benign
Single submitter
distal myopathy, Welander type
-
TIA1 p.Arg57Leu
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Gln297Glu
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Glu242Asp
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Gly355Arg
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.His56Arg
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ile266Val
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Ile274Phe
Uncertain significance
Single submitter
distal myopathy, Welander type
- TIA1 p.Ile274Thr Uncertain significance Single submitter
-
TIA1 p.Lys70Met
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Met230Ile
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Phe344Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TIA1 p.Pro305Arg
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Pro324Arg
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Thr143Ser
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Thr42Ile
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Thr91Arg
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Trp353Cys
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Tyr313Cys
Uncertain significance
Single submitter
distal myopathy, Welander type
-
TIA1 p.Tyr358Asp
Uncertain significance
Single submitter
distal myopathy, Welander type
All TIA1 variants
Pathogenic/Likely pathogenic 1
- p.Glu384Lys Multiple submitters TIA1-related disorder ⚠
Conflicting classifications of pathogenicity 5
- c.474+15_474+17dup Single submitter distal myopathy, Welander type
- p.Asn357Ser Single submitter amyotrophic lateral sclerosis 26 with or without frontotemporal dementia ⚠
- p.Gly336Ser Single submitter distal myopathy, Welander type ⚠
- p.Pro362Leu Single submitter distal myopathy, Welander type ⚠
- p.Thr95Ser Single submitter distal myopathy, Welander type ⚠
Benign 32
- c.277+58G>A Multiple submitters
- c.310+284T>C Multiple submitters
- c.398+73C>G Multiple submitters
- c.399-23C>T Multiple submitters
- c.474+284C>G Multiple submitters
- c.764+175A>G Multiple submitters
- c.765-166A>G Multiple submitters
- c.-118A>C Multiple submitters
- c.-137C>T Multiple submitters
- c.1034+120C>T Single submitter
- c.1034+149dup Single submitter
- c.123+32dup Single submitter
- c.124-290dup Single submitter
- c.222+148A>G Single submitter
- c.222+260G>A Single submitter
- c.222+279G>A Single submitter
- c.222+89_222+90dup Single submitter
- c.222+89dup Single submitter
- c.223-136G>A Single submitter
- c.223-5_223-3del Single submitter distal myopathy, Welander type
- c.27-14T>G Single submitter distal myopathy, Welander type
- c.27-40dup Single submitter
- c.311-250G>A Single submitter
- c.474+81del Single submitter
- c.475-310C>A Single submitter
- c.764+16dup Single submitter distal myopathy, Welander type
- c.765-103_765-97del Single submitter
- c.889-149T>G Single submitter
- c.889-157T>G Single submitter
- p.Asn367= Single submitter distal myopathy, Welander type
- p.Gln25= Single submitter distal myopathy, Welander type
- p.Gly31= Single submitter distal myopathy, Welander type
Benign/Likely benign 9
- c.223-3del Multiple submitters distal myopathy, Welander type
- c.223-3dup Multiple submitters distal myopathy, Welander type
- c.679+18G>T Multiple submitters distal myopathy, Welander type
- p.Ala316Gly Multiple submitters distal myopathy, Welander type
- p.Gln308= Multiple submitters distal myopathy, Welander type
- p.Gln318Arg Multiple submitters distal myopathy, Welander type
- p.Gln374= Multiple submitters distal myopathy, Welander type
- p.Pro362= Multiple submitters distal myopathy, Welander type
- p.Tyr10= Multiple submitters distal myopathy, Welander type
Likely benign 131
- c.1035-7C>T Multiple submitters distal myopathy, Welander type
- c.223-34G>A Multiple submitters
- c.277+27A>G Multiple submitters
- c.474+184C>T Multiple submitters
- c.475-8C>T Multiple submitters distal myopathy, Welander type
- c.680-16G>T Multiple submitters distal myopathy, Welander type
- c.-166C>T Multiple submitters
- p.Ala135= Multiple submitters distal myopathy, Welander type
- p.Arg16= Multiple submitters distal myopathy, Welander type
- p.Gly326= Multiple submitters distal myopathy, Welander type
- p.Leu63= Multiple submitters distal myopathy, Welander type
- p.Phe246= Multiple submitters distal myopathy, Welander type
- p.Pro128= Multiple submitters distal myopathy, Welander type
- p.Tyr306= Multiple submitters distal myopathy, Welander type
- p.Val152= Multiple submitters distal myopathy, Welander type
- c.1034+20T>C Single submitter distal myopathy, Welander type
- c.1035-13C>T Single submitter distal myopathy, Welander type
- c.1035-14A>G Single submitter distal myopathy, Welander type
- c.1035-15C>A Single submitter distal myopathy, Welander type
- c.1035-20T>G Single submitter distal myopathy, Welander type
- c.1035-6C>A Single submitter distal myopathy, Welander type
- c.1035-8T>C Single submitter distal myopathy, Welander type
- c.1035-9C>G Single submitter distal myopathy, Welander type
- c.123+15C>G Single submitter distal myopathy, Welander type
- c.123+7G>A Single submitter distal myopathy, Welander type
- c.123+94T>C Single submitter
- c.124-14T>G Single submitter distal myopathy, Welander type
- c.124-7C>T Single submitter distal myopathy, Welander type
- c.222+103del Single submitter
- c.222+11G>A Single submitter distal myopathy, Welander type
- c.222+11G>T Single submitter distal myopathy, Welander type
- c.222+19_222+22del Single submitter distal myopathy, Welander type
- c.223-14T>A Single submitter distal myopathy, Welander type
- c.223-15A>T Single submitter distal myopathy, Welander type
- c.223-16A>C Single submitter distal myopathy, Welander type
- c.223-4T>G Single submitter distal myopathy, Welander type
- c.26+122C>T Single submitter
- c.26+17G>A Single submitter distal myopathy, Welander type
- c.26+7C>G Single submitter distal myopathy, Welander type
- c.27-11T>C Single submitter distal myopathy, Welander type
- c.27-13C>G Single submitter distal myopathy, Welander type
- c.27-13C>T Single submitter distal myopathy, Welander type
- c.277+12T>A Single submitter distal myopathy, Welander type
- c.277+14dup Single submitter distal myopathy, Welander type
- c.277+15T>C Single submitter distal myopathy, Welander type
- c.277+7A>G Single submitter distal myopathy, Welander type
- c.278-17C>G Single submitter distal myopathy, Welander type
- c.310+12T>C Single submitter distal myopathy, Welander type
- c.310+14_310+16del Single submitter distal myopathy, Welander type
- c.310+17_310+18insC Single submitter distal myopathy, Welander type
- c.310+19A>G Single submitter distal myopathy, Welander type
- c.311-10C>T Single submitter distal myopathy, Welander type
- c.311-11C>T Single submitter distal myopathy, Welander type
- c.311-20C>T Single submitter distal myopathy, Welander type
- c.311-8C>G Single submitter distal myopathy, Welander type
- c.398+10A>G Single submitter distal myopathy, Welander type
- c.398+11_398+12del Single submitter distal myopathy, Welander type
- c.398+17A>G Single submitter
- c.399-14G>T Single submitter distal myopathy, Welander type
- c.399-19T>G Single submitter distal myopathy, Welander type
- c.474+10G>T Single submitter distal myopathy, Welander type
- c.474+11T>C Single submitter distal myopathy, Welander type
- c.474+17G>A Single submitter distal myopathy, Welander type
- c.475-12_475-10del Single submitter distal myopathy, Welander type
- c.583+7G>A Single submitter distal myopathy, Welander type
- c.584-20_584-19del Single submitter distal myopathy, Welander type
- c.584-5A>C Single submitter distal myopathy, Welander type
- c.584-5A>G Single submitter distal myopathy, Welander type
- c.679+16C>G Single submitter distal myopathy, Welander type
- c.679+7del Single submitter distal myopathy, Welander type
- c.680-15dup Single submitter distal myopathy, Welander type
- c.680-22_680-19del Single submitter distal myopathy, Welander type
- c.680-5A>G Single submitter distal myopathy, Welander type
- c.680-7C>G Single submitter distal myopathy, Welander type
- c.764+10G>A Single submitter distal myopathy, Welander type
- c.764+10G>T Single submitter distal myopathy, Welander type
- c.765-104G>A Single submitter
- c.765-14A>G Single submitter distal myopathy, Welander type
- c.888+180A>T Single submitter
- c.888+18T>C Single submitter distal myopathy, Welander type
- c.889-14A>T Single submitter distal myopathy, Welander type
- c.889-152T>G Single submitter
- c.889-158_889-157insG Single submitter
- c.889-15A>G Single submitter distal myopathy, Welander type
- c.889-174T>C Single submitter
- c.889-17T>C Single submitter distal myopathy, Welander type
- c.-13G>A Single submitter
- c.-158C>G Single submitter
- p.Ala160= Single submitter distal myopathy, Welander type
- p.Ala61= Single submitter
- p.Arg231Ser Single submitter distal myopathy, Welander type ⚠
- p.Arg69= Single submitter distal myopathy, Welander type
- p.Asn162= Single submitter distal myopathy, Welander type
- p.Asn180= Single submitter distal myopathy, Welander type
- p.Asn67= Single submitter distal myopathy, Welander type
- p.Asn79= Single submitter distal myopathy, Welander type
- p.Cys281= Single submitter distal myopathy, Welander type
- p.Gln304= Single submitter distal myopathy, Welander type
- p.Gln317= Single submitter distal myopathy, Welander type
- p.Gln361= Single submitter
- p.Gly144= Single submitter distal myopathy, Welander type
- p.Gly150= Single submitter distal myopathy, Welander type
- p.Gly168= Single submitter distal myopathy, Welander type
- p.Gly284= Single submitter distal myopathy, Welander type
- p.Gly301= Single submitter distal myopathy, Welander type
- p.Gly382= Single submitter distal myopathy, Welander type
- p.His105= Single submitter
- p.His107= Single submitter distal myopathy, Welander type
- p.Leu113= Single submitter distal myopathy, Welander type
- p.Leu14= Single submitter distal myopathy, Welander type
- p.Lys147= Single submitter distal myopathy, Welander type
- p.Lys249= Single submitter distal myopathy, Welander type
- p.Lys88= Single submitter distal myopathy, Welander type
- p.Phe126= Single submitter distal myopathy, Welander type
- p.Phe253= Single submitter distal myopathy, Welander type
- p.Phe344= Single submitter distal myopathy, Welander type
- p.Phe53= Single submitter distal myopathy, Welander type
- p.Pro187= Single submitter distal myopathy, Welander type
- p.Pro189= Single submitter distal myopathy, Welander type
- p.Pro305= Single submitter distal myopathy, Welander type
- p.Ser15= Single submitter distal myopathy, Welander type
- p.Ser201= Single submitter distal myopathy, Welander type
- p.Thr215= Single submitter distal myopathy, Welander type
- p.Tyr149= Single submitter distal myopathy, Welander type
- p.Tyr193= Single submitter distal myopathy, Welander type
- p.Tyr282= Single submitter distal myopathy, Welander type
- p.Val108= Single submitter distal myopathy, Welander type
- p.Val11= Single submitter distal myopathy, Welander type
- p.Val205= Single submitter distal myopathy, Welander type
- p.Val294= Single submitter distal myopathy, Welander type
- p.Val76= Single submitter distal myopathy, Welander type
Uncertain significance 157
- c.223-3T>C Multiple submitters distal myopathy, Welander type
- c.277+3_277+5dup Multiple submitters distal myopathy, Welander type
- c.475-3C>T Multiple submitters distal myopathy, Welander type
- p.Ala331Val Multiple submitters distal myopathy, Welander type ⚠
- p.Arg231His Multiple submitters distal myopathy, Welander type ⚠
- p.Asn257Ile Multiple submitters distal myopathy, Welander type ⚠
- p.Asp121Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys33Phe Multiple submitters distal myopathy, Welander type ⚠
- p.Gln228Leu Multiple submitters Inborn genetic diseases ⚠
- p.Glu52Ala Multiple submitters distal myopathy, Welander type ⚠
- p.Glu52Lys Multiple submitters Inborn genetic diseases ⚠
- p.His105Tyr Multiple submitters distal myopathy, Welander type ⚠
- p.His58Asn Multiple submitters distal myopathy, Welander type ⚠
- p.Leu288Pro Multiple submitters distal myopathy, Welander type ⚠
- p.Leu63Ser Multiple submitters distal myopathy, Welander type ⚠
- p.Lys77Arg Multiple submitters ⚠
- p.Met334Ile Multiple submitters distal myopathy, Welander type ⚠
- p.Met370Val Multiple submitters distal myopathy, Welander type ⚠
- p.Pro187Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser133Leu Multiple submitters distal myopathy, Welander type ⚠
- p.Thr119Asn Multiple submitters distal myopathy, Welander type ⚠
- p.Thr347Ile Multiple submitters distal myopathy, Welander type ⚠
- p.Thr91Lys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr48Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val11Ile Multiple submitters distal myopathy, Welander type ⚠
- p.Val294fs Multiple submitters distal myopathy, Welander type
- p.Val294Met Multiple submitters distal myopathy, Welander type ⚠
- p.Val360Met Multiple submitters distal myopathy, Welander type ⚠
- c.123+2_123+8dup Single submitter distal myopathy, Welander type
- c.124-1G>A Single submitter distal myopathy, Welander type
- c.222+1G>A Single submitter distal myopathy, Welander type
- c.222+5G>A Single submitter distal myopathy, Welander type
- c.223-3T>A Single submitter distal myopathy, Welander type
- c.223-6_223-3del Single submitter distal myopathy, Welander type
- c.26+2_26+3del Single submitter
- c.27-3C>T Single submitter
- c.27-6T>A Single submitter distal myopathy, Welander type
- c.277+6T>G Single submitter distal myopathy, Welander type
- c.277+9A>G Single submitter distal myopathy, Welander type
- c.310+1G>A Single submitter
- c.398+3A>G Single submitter distal myopathy, Welander type
- c.398+4A>C Single submitter
- c.474+1G>A Single submitter distal myopathy, Welander type
- c.475-11G>T Single submitter distal myopathy, Welander type
- c.583+1G>A Single submitter distal myopathy, Welander type
- c.584-14T>A Single submitter distal myopathy, Welander type
- c.679+6G>A Single submitter distal myopathy, Welander type
- c.764+16_764+17insTGGTTTTTTTTTTTTTTTTTTNNNNNNNNNNNCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC Single submitter distal myopathy, Welander type
- c.765-8T>C Single submitter
- c.889-1G>A Single submitter amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
- c.889-1G>T Single submitter
- c.-3G>A Single submitter
- p.Ala127Val Single submitter distal myopathy, Welander type ⚠
- p.Ala142Val Single submitter distal myopathy, Welander type ⚠
- p.Ala163Thr Single submitter ⚠
- p.Ala188Ser Single submitter distal myopathy, Welander type ⚠
- p.Ala188Thr Single submitter distal myopathy, Welander type ⚠
- p.Ala263Ser Single submitter distal myopathy, Welander type ⚠
- p.Ala265Gly Single submitter distal myopathy, Welander type ⚠
- p.Ala331Thr Single submitter ⚠
- p.Ala381Thr Single submitter distal myopathy, Welander type ⚠
- p.Ala62_Ala65del Single submitter distal myopathy, Welander type
- p.Ala62Thr Single submitter distal myopathy, Welander type ⚠
- p.Arg101His Single submitter distal myopathy, Welander type ⚠
- p.Arg101Ser Single submitter distal myopathy, Welander type
- p.Arg136Ter Single submitter distal myopathy, Welander type
- p.Arg175Lys Single submitter ⚠
- p.Arg231Cys Single submitter distal myopathy, Welander type ⚠
- p.Arg244Gln Single submitter ⚠
- p.Arg255Gly Single submitter ⚠
- p.Arg255Trp Single submitter distal myopathy, Welander type ⚠
- p.Arg57His Single submitter distal myopathy, Welander type ⚠
- p.Arg57Leu Single submitter distal myopathy, Welander type ⚠
- p.Asn156Thr Single submitter distal myopathy, Welander type
- p.Asn180fs Single submitter distal myopathy, Welander type
- p.Asn196Asp Single submitter distal myopathy, Welander type ⚠
- p.Asn257Thr Single submitter ⚠
- p.Asn367fs Single submitter distal myopathy, Welander type
- p.Asn373Asp Single submitter distal myopathy, Welander type ⚠
- p.Asn373Ser Single submitter distal myopathy, Welander type ⚠
- p.Asp104Val Single submitter distal myopathy, Welander type ⚠
- p.Asp3Asn Single submitter distal myopathy, Welander type ⚠
- p.Cys218Arg Single submitter distal myopathy, Welander type ⚠
- p.Cys218Ser Single submitter distal myopathy, Welander type ⚠
- p.Gln100Arg Single submitter distal myopathy, Welander type ⚠
- p.Gln199His Single submitter distal myopathy, Welander type ⚠
- p.Gln297Glu Single submitter distal myopathy, Welander type ⚠
- p.Gln342Glu Single submitter ⚠
- p.Gln346His Single submitter distal myopathy, Welander type ⚠
- p.Gln361Pro Single submitter distal myopathy, Welander type ⚠
- p.Gln366Ter Single submitter distal myopathy, Welander type
- p.Gln386fs Single submitter distal myopathy, Welander type
- p.Gln386Pro Single submitter distal myopathy, Welander type ⚠
- p.Gln87fs Single submitter distal myopathy, Welander type
- p.Glu242Asp Single submitter distal myopathy, Welander type ⚠
- p.Glu286Ala Single submitter ⚠
- p.Glu4Gln Single submitter ⚠
- p.Gly169= Single submitter distal myopathy, Welander type
- p.Gly173Arg Single submitter distal myopathy, Welander type ⚠
- p.Gly284Arg Single submitter distal myopathy, Welander type ⚠
- p.Gly301Val Single submitter distal myopathy, Welander type ⚠
- p.Gly310Ser Single submitter distal myopathy, Welander type ⚠
- p.Gly343Val Single submitter distal myopathy, Welander type ⚠
- p.Gly355Arg Single submitter distal myopathy, Welander type ⚠
- p.His259Asn Single submitter distal myopathy, Welander type ⚠
- p.His54Arg Single submitter Inborn genetic diseases ⚠
- p.His56Arg Single submitter distal myopathy, Welander type ⚠
- p.His58Arg Single submitter distal myopathy, Welander type ⚠
- p.Ile122Thr Single submitter distal myopathy, Welander type ⚠
- p.Ile243Thr Single submitter distal myopathy, Welander type ⚠
- p.Ile266Val Single submitter distal myopathy, Welander type ⚠
- p.Ile274Phe Single submitter distal myopathy, Welander type ⚠
- p.Ile274Thr Single submitter ⚠
- p.Leu14Arg Single submitter distal myopathy, Welander type ⚠
- p.Leu24Val Single submitter distal myopathy, Welander type ⚠
- p.Leu288Val Single submitter Inborn genetic diseases ⚠
- p.Lys145Thr Single submitter distal myopathy, Welander type ⚠
- p.Lys70Met Single submitter distal myopathy, Welander type ⚠
- p.Met141Thr Single submitter distal myopathy, Welander type
- p.Met1Ile Single submitter distal myopathy, Welander type
- p.Met1Val Single submitter
- p.Met230Ile Single submitter distal myopathy, Welander type ⚠
- p.Met230Thr Single submitter distal myopathy, Welander type ⚠
- p.Met290Thr Single submitter distal myopathy, Welander type ⚠
- p.Met323Val Single submitter distal myopathy, Welander type ⚠
- p.Met66Val Single submitter Inborn genetic diseases ⚠
- p.Phe246Tyr Single submitter distal myopathy, Welander type ⚠
- p.Phe253Cys Single submitter distal myopathy, Welander type ⚠
- p.Phe344Leu Single submitter Inborn genetic diseases ⚠
- p.Phe53Leu Single submitter distal myopathy, Welander type ⚠
- p.Pro186His Single submitter distal myopathy, Welander type ⚠
- p.Pro305Arg Single submitter distal myopathy, Welander type ⚠
- p.Pro305Ser Single submitter distal myopathy, Welander type ⚠
- p.Pro324Arg Single submitter distal myopathy, Welander type ⚠
- p.Pro324Ser Single submitter distal myopathy, Welander type ⚠
- p.Pro375Leu Single submitter ⚠
- p.Ser133Pro Single submitter distal myopathy, Welander type ⚠
- p.Ser191Ile Single submitter distal myopathy, Welander type ⚠
- p.Ser212Gly Single submitter distal myopathy, Welander type ⚠
- p.Ser212Ile Single submitter distal myopathy, Welander type ⚠
- p.Ser268Phe Single submitter
- p.Ser268Thr Single submitter distal myopathy, Welander type ⚠
- p.Thr143Ser Single submitter distal myopathy, Welander type ⚠
- p.Thr183Ile Single submitter Inborn genetic diseases ⚠
- p.Thr42Ile Single submitter distal myopathy, Welander type ⚠
- p.Thr82Ile Single submitter distal myopathy, Welander type ⚠
- p.Thr91Arg Single submitter distal myopathy, Welander type ⚠
- p.Trp312Cys Single submitter distal myopathy, Welander type
- p.Trp353Cys Single submitter distal myopathy, Welander type ⚠
- p.Tyr313Cys Single submitter distal myopathy, Welander type ⚠
- p.Tyr358Asp Single submitter distal myopathy, Welander type ⚠
- p.Val110Ile Single submitter distal myopathy, Welander type ⚠
- p.Val267Ile Single submitter amyotrophic lateral sclerosis 26 with or without frontotemporal dementia ⚠
- p.Val269Ile Single submitter distal myopathy, Welander type ⚠
- p.Val294Leu Single submitter distal myopathy, Welander type ⚠
- p.Val329Ile Single submitter distal myopathy, Welander type ⚠
- p.Val329Phe Single submitter distal myopathy, Welander type ⚠