TOR1A — 243 ClinVar variants
All ClinVar germline TOR1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →
5 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 10 Conflicting · 20 Benign · 6 Benign/Likely benign · 58 Likely benign · 135 Uncertain significance
Full TOR1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 102
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.
-
TOR1A p.Glu121Lys
Conflicting
Single submitter
dystonic disorder
-
TOR1A p.Lys275Glu
Conflicting
Single submitter
Inborn genetic diseases
-
TOR1A p.Phe205Ile
Conflicting
Single submitter
dystonic disorder
Predictors lean, ClinVar uncertain 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TOR1A p.Ala239Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TOR1A p.Ala239Val
Uncertain significance
Multiple submitters
dystonic disorder
-
TOR1A p.Arg213Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TOR1A p.Asp331Asn
Uncertain significance
Multiple submitters
dystonic disorder
-
TOR1A p.Cys44Gly
Uncertain significance
Multiple submitters
dystonic disorder
-
TOR1A p.Leu179Phe
Uncertain significance
Multiple submitters
dystonic disorder
-
TOR1A p.Leu240Ser
Uncertain significance
Multiple submitters
dystonic disorder
-
TOR1A p.Leu257Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TOR1A p.Ser287Tyr Uncertain significance Multiple submitters
-
TOR1A p.Tyr43His
Uncertain significance
Multiple submitters
dystonic disorder
-
TOR1A p.Val111Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TOR1A p.Val111Leu
Uncertain significance
Multiple submitters
dystonic disorder
-
TOR1A p.Val129Ile
Uncertain significance
Multiple submitters
arthrogryposis multiplex congenita 5
-
TOR1A p.Ala29Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TOR1A p.Ala29Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TOR1A p.Ala31Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TOR1A p.Ala31Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TOR1A p.Arg156Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TOR1A p.Arg164Ser
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Arg312Lys
Uncertain significance
Single submitter
dystonic disorder
- TOR1A p.Arg41His Uncertain significance Single submitter
-
TOR1A p.Arg54Leu
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Asn125His
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Asn246Ser
Uncertain significance
Single submitter
dystonic disorder
- TOR1A p.Asp173Gly Uncertain significance Single submitter
-
TOR1A p.Asp188Asn
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Asp194Tyr
Uncertain significance
Single submitter
dystonic disorder
- TOR1A p.Asp64Gly Uncertain significance Single submitter
-
TOR1A p.Asp66Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TOR1A p.Cys162Arg Uncertain significance Single submitter
-
TOR1A p.Cys319Arg
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Gln52Arg
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Glu273Val
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Glu291Asp
Uncertain significance
Single submitter
dystonic disorder
- TOR1A p.Gly102Arg Uncertain significance Single submitter
-
TOR1A p.Gly102Trp
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Gly105Asp
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Gly107Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TOR1A p.Gly122Asp
Uncertain significance
Single submitter
dystonic disorder
- TOR1A p.Gly210Glu Uncertain significance Single submitter
-
TOR1A p.Gly289Asp
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Gly32Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TOR1A p.His101Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TOR1A p.His254Asp Uncertain significance Single submitter
-
TOR1A p.Ile115Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TOR1A p.Ile168Thr
Uncertain significance
Single submitter
early-onset generalized limb-onset dystonia
-
TOR1A p.Ile180Thr
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Ile231Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TOR1A p.Ile263Thr Uncertain significance Single submitter
-
TOR1A p.Ile281Val
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Ile296Val
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Ile38Met
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Leu42Ile
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Leu56Phe
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Lys226Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TOR1A p.Lys275Arg Uncertain significance Single submitter
-
TOR1A p.Lys317Glu
Uncertain significance
Single submitter
dystonic disorder
- TOR1A p.Lys53Gln Uncertain significance Single submitter
- TOR1A p.Lys77Asn Uncertain significance Single submitter
-
TOR1A p.Met279Thr
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Phe138Leu
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Phe169Ser
Uncertain significance
Single submitter
early-onset generalized limb-onset dystonia
- TOR1A p.Phe269Ser Uncertain significance Single submitter
-
TOR1A p.Phe306Val
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Phe314Leu
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Pro139Gln
Uncertain significance
Single submitter
dystonic disorder
- TOR1A p.Pro308Arg Uncertain significance Single submitter
-
TOR1A p.Pro90Ala
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Ser256Thr
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Ser57Arg
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Thr106Ile
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Tyr128Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TOR1A p.Tyr147Cys Uncertain significance Single submitter
-
TOR1A p.Val159Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TOR1A p.Val322Met
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Val33Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TOR1A p.Arg288Leu Uncertain significance No assertion criteria
Predictors split 22
The independent predictors disagree with each other — read with care.
-
TOR1A p.Ala163Val
Benign/Likely benign
Multiple submitters
dystonic disorder
-
TOR1A p.Arg260Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TOR1A p.Lys248Asn
Uncertain significance
Multiple submitters
dystonic disorder
-
TOR1A p.Ser243Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TOR1A p.Tyr274Asn
Uncertain significance
Multiple submitters
dystonic disorder
-
TOR1A p.Arg223Ser
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Arg288Gln
Conflicting
Single submitter
arthrogryposis multiplex congenita 5
-
TOR1A p.Asn158Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TOR1A p.Asp259Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TOR1A p.Asp293Tyr Uncertain significance Single submitter
- TOR1A p.Glu303Gln Uncertain significance Single submitter
-
TOR1A p.Gly157Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TOR1A p.Gly225Glu
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Gly32Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TOR1A p.Ile168Val Uncertain significance Single submitter
-
TOR1A p.Ile236Thr
Uncertain significance
Single submitter
early-onset generalized limb-onset dystonia
- TOR1A p.Phe205Leu Uncertain significance Single submitter
-
TOR1A p.Pro40Ala
Uncertain significance
Single submitter
dystonic disorder
-
TOR1A p.Ser250Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TOR1A p.Thr215Ile Uncertain significance Single submitter
-
TOR1A p.Thr35Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TOR1A p.Thr97Arg Uncertain significance Single submitter
All TOR1A variants
Pathogenic 5
- p.Gln72Ter Single submitter early-onset generalized limb-onset dystonia
- p.Glu117_Asn118delinsTer Single submitter arthrogryposis multiplex congenita 5
- p.Lys320Glu Single submitter early-onset generalized limb-onset dystonia
- p.Trp154Ter Single submitter early-onset generalized limb-onset dystonia
- p.Gly318Ser No assertion criteria arthrogryposis multiplex congenita 5
Pathogenic/Likely pathogenic 2
- p.Arg288Ter Multiple submitters TOR1A-related disorder
- p.Glu303del Multiple submitters early-onset generalized limb-onset dystonia
Likely pathogenic 7
- p.Arg282Ter Multiple submitters arthrogryposis multiplex congenita 5
- c.621-2A>G Single submitter arthrogryposis multiplex congenita 5
- c.748+1G>A Single submitter TOR1A-related disorder
- p.Asp264fs Single submitter arthrogryposis multiplex congenita 5
- p.Cys162Ter Single submitter arthrogryposis multiplex congenita 5
- p.Gln286Ter Single submitter
- p.Leu96fs Single submitter arthrogryposis multiplex congenita 5
Conflicting classifications of pathogenicity 10
- c.620+6G>A Single submitter dystonic disorder
- p.Arg156Ter Single submitter early-onset generalized limb-onset dystonia
- p.Arg288Gln Single submitter arthrogryposis multiplex congenita 5 ⚠
- p.Glu121Lys Single submitter dystonic disorder ⚠
- p.Gly51= Single submitter dystonic disorder
- p.Ile24= Single submitter dystonic disorder
- p.Lys275Glu Single submitter Inborn genetic diseases ⚠
- p.Phe205Ile Single submitter dystonic disorder ⚠
- p.Thr321fs Single submitter Inborn genetic diseases
- p.Tyr330= Single submitter dystonic disorder
Benign 20
- c.178+269A>G Multiple submitters
- c.748+113C>G Multiple submitters
- c.*191G>T Multiple submitters dystonic disorder
- c.*214C>G Multiple submitters early-onset generalized limb-onset dystonia
- c.*414G>T Multiple submitters early-onset generalized limb-onset dystonia
- c.*416T>G Multiple submitters early-onset generalized limb-onset dystonia
- c.*454T>A Multiple submitters early-onset generalized limb-onset dystonia
- p.Ala82= Multiple submitters dystonic disorder
- p.Asp216His Multiple submitters early-onset generalized limb-onset dystonia
- c.178+192CTGGGG[2] Single submitter
- c.179-231T>A Single submitter
- c.445-12dup Single submitter dystonic disorder
- c.445-8dup Single submitter dystonic disorder
- c.749-164G>T Single submitter
- c.749-179dup Single submitter
- c.*1002C>T Single submitter early-onset generalized limb-onset dystonia
- c.*831C>T Single submitter early-onset generalized limb-onset dystonia
- c.*948C>T Single submitter early-onset generalized limb-onset dystonia
- c.*961T>A Single submitter early-onset generalized limb-onset dystonia
- p.Glu273= Single submitter dystonic disorder
Benign/Likely benign 6
- c.445-22G>A Multiple submitters
- c.749-11C>A Multiple submitters dystonic disorder
- c.*193G>A Multiple submitters early-onset generalized limb-onset dystonia
- p.Ala163Val Multiple submitters dystonic disorder ⚠
- p.Gly9Ala Multiple submitters dystonic disorder
- p.Leu187= Multiple submitters dystonic disorder
Likely benign 58
- c.621-41A>T Multiple submitters
- c.748+10G>A Multiple submitters dystonic disorder
- p.His238= Multiple submitters dystonic disorder
- p.Ile292Thr Multiple submitters Inborn genetic diseases
- p.Pro271= Multiple submitters dystonic disorder
- p.Ser243= Multiple submitters dystonic disorder
- p.Thr135= Multiple submitters dystonic disorder
- c.178+12C>G Single submitter dystonic disorder
- c.178+18_178+19del Single submitter
- c.178+18C>T Single submitter dystonic disorder
- c.179-164C>T Single submitter
- c.444+10G>A Single submitter dystonic disorder
- c.444+14T>C Single submitter dystonic disorder
- c.444+19A>G Single submitter dystonic disorder
- c.445-15C>T Single submitter dystonic disorder
- c.620+20A>G Single submitter dystonic disorder
- c.621-18A>G Single submitter dystonic disorder
- c.621-20C>G Single submitter dystonic disorder
- c.748+19C>T Single submitter dystonic disorder
- c.748+234C>T Single submitter
- c.749-157del Single submitter
- c.749-5C>T Single submitter dystonic disorder
- c.*112G>C Single submitter early-onset generalized limb-onset dystonia
- c.*930T>A Single submitter early-onset generalized limb-onset dystonia
- p.Ala47= Single submitter dystonic disorder
- p.Asn125Lys Single submitter
- p.Asn158= Single submitter dystonic disorder
- p.Asp181= Single submitter dystonic disorder
- p.Asp235Val Single submitter early-onset generalized limb-onset dystonia
- p.Asp331= Single submitter dystonic disorder
- p.Asp332= Single submitter dystonic disorder
- p.Cys319= Single submitter dystonic disorder
- p.Cys50= Single submitter dystonic disorder
- p.Gln286= Single submitter dystonic disorder
- p.Glu117= Single submitter dystonic disorder
- p.Glu229= Single submitter dystonic disorder
- p.Glu310= Single submitter dystonic disorder
- p.Gly102= Single submitter dystonic disorder
- p.Gly195= Single submitter dystonic disorder
- p.Gly251= Single submitter
- p.Gly318= Single submitter
- p.Ile114= Single submitter dystonic disorder
- p.Ile38= Single submitter dystonic disorder
- p.Leu100= Single submitter dystonic disorder
- p.Leu136= Single submitter
- p.Lys113= Single submitter dystonic disorder
- p.Lys309Asn Single submitter arthrogryposis multiplex congenita 5
- p.Phe203= Single submitter dystonic disorder
- p.Phe46= Single submitter dystonic disorder
- p.Pro308= Single submitter
- p.Pro40= Single submitter
- p.Ser25= Single submitter
- p.Ser57= Single submitter dystonic disorder
- p.Thr215= Single submitter dystonic disorder
- p.Thr97= Single submitter dystonic disorder
- p.Val242= Single submitter dystonic disorder
- p.Gly157= No assertion criteria TOR1A-related disorder
- p.Ser298= No assertion criteria TOR1A-related disorder
Uncertain significance 135
- c.-4G>C Multiple submitters early-onset generalized limb-onset dystonia
- p.Ala239Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala239Val Multiple submitters dystonic disorder ⚠
- p.Arg213Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg260Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asp331Asn Multiple submitters dystonic disorder ⚠
- p.Cys44Gly Multiple submitters dystonic disorder ⚠
- p.Leu179Phe Multiple submitters dystonic disorder ⚠
- p.Leu240Ser Multiple submitters dystonic disorder ⚠
- p.Leu257Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys248Asn Multiple submitters dystonic disorder ⚠
- p.Ser243Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser287Tyr Multiple submitters ⚠
- p.Ter333TrpextTer? Multiple submitters TOR1A-related disorder
- p.Thr321Met Multiple submitters early-onset generalized limb-onset dystonia
- p.Tyr274Asn Multiple submitters dystonic disorder ⚠
- p.Tyr43His Multiple submitters dystonic disorder ⚠
- p.Val111Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val111Leu Multiple submitters dystonic disorder ⚠
- p.Val129Ile Multiple submitters arthrogryposis multiplex congenita 5 ⚠
- c.179-3C>T Single submitter dystonic disorder
- c.620+1G>A Single submitter dystonic disorder
- c.620+3A>T Single submitter early-onset generalized limb-onset dystonia
- c.620+6G>C Single submitter dystonic disorder
- c.748+267T>A Single submitter
- c.749-3C>T Single submitter dystonic disorder
- c.*1010A>G Single submitter early-onset generalized limb-onset dystonia
- c.*108G>C Single submitter early-onset generalized limb-onset dystonia
- c.*149G>A Single submitter early-onset generalized limb-onset dystonia
- c.*165G>A Single submitter early-onset generalized limb-onset dystonia
- c.*165G>T Single submitter early-onset generalized limb-onset dystonia
- c.*201G>A Single submitter early-onset generalized limb-onset dystonia
- c.*216C>T Single submitter early-onset generalized limb-onset dystonia
- c.*345C>T Single submitter early-onset generalized limb-onset dystonia
- c.*623C>T Single submitter early-onset generalized limb-onset dystonia
- c.*785G>A Single submitter early-onset generalized limb-onset dystonia
- c.*812C>G Single submitter early-onset generalized limb-onset dystonia
- c.*832G>A Single submitter early-onset generalized limb-onset dystonia
- c.*879C>A Single submitter early-onset generalized limb-onset dystonia
- c.*934A>G Single submitter early-onset generalized limb-onset dystonia
- c.*997G>A Single submitter early-onset generalized limb-onset dystonia
- p.150QL[1] Single submitter
- p.Ala116Thr Single submitter Inborn genetic diseases
- p.Ala29Thr Single submitter Inborn genetic diseases ⚠
- p.Ala29Val Single submitter Inborn genetic diseases ⚠
- p.Ala31Thr Single submitter Inborn genetic diseases ⚠
- p.Ala31Val Single submitter Inborn genetic diseases ⚠
- p.Arg156Gln Single submitter Inborn genetic diseases ⚠
- p.Arg164Ser Single submitter dystonic disorder ⚠
- p.Arg223Ser Single submitter dystonic disorder ⚠
- p.Arg312fs Single submitter dystonic disorder
- p.Arg312Lys Single submitter dystonic disorder ⚠
- p.Arg41His Single submitter ⚠
- p.Arg54Leu Single submitter dystonic disorder ⚠
- p.Arg58fs Single submitter dystonic disorder
- p.Asn125His Single submitter dystonic disorder ⚠
- p.Asn158Ser Single submitter Inborn genetic diseases ⚠
- p.Asn246Ser Single submitter dystonic disorder ⚠
- p.Asp173Gly Single submitter ⚠
- p.Asp188Asn Single submitter dystonic disorder ⚠
- p.Asp194Tyr Single submitter dystonic disorder ⚠
- p.Asp259Gly Single submitter Inborn genetic diseases ⚠
- p.Asp293Tyr Single submitter ⚠
- p.Asp64Gly Single submitter ⚠
- p.Asp66Glu Single submitter Inborn genetic diseases ⚠
- p.Cys162Arg Single submitter ⚠
- p.Cys319Arg Single submitter dystonic disorder ⚠
- p.Gln52Arg Single submitter dystonic disorder ⚠
- p.Glu229fs Single submitter dystonic disorder
- p.Glu273Val Single submitter dystonic disorder ⚠
- p.Glu291Asp Single submitter dystonic disorder ⚠
- p.Glu294Ter Single submitter dystonic disorder
- p.Glu303Gln Single submitter ⚠
- p.Gly102Arg Single submitter ⚠
- p.Gly102Trp Single submitter dystonic disorder ⚠
- p.Gly105Asp Single submitter dystonic disorder ⚠
- p.Gly107Ser Single submitter Inborn genetic diseases ⚠
- p.Gly122Asp Single submitter dystonic disorder ⚠
- p.Gly123= Single submitter early-onset generalized limb-onset dystonia
- p.Gly157Asp Single submitter Inborn genetic diseases ⚠
- p.Gly210Glu Single submitter ⚠
- p.Gly225Glu Single submitter dystonic disorder ⚠
- p.Gly289Asp Single submitter dystonic disorder ⚠
- p.Gly32Ala Single submitter Inborn genetic diseases ⚠
- p.Gly32Arg Single submitter Inborn genetic diseases ⚠
- p.His101Gln Single submitter Inborn genetic diseases ⚠
- p.His254Asp Single submitter ⚠
- p.Ile115Val Single submitter Inborn genetic diseases ⚠
- p.Ile168Thr Single submitter early-onset generalized limb-onset dystonia ⚠
- p.Ile168Val Single submitter ⚠
- p.Ile180Thr Single submitter dystonic disorder ⚠
- p.Ile231Val Single submitter Inborn genetic diseases ⚠
- p.Ile236Thr Single submitter early-onset generalized limb-onset dystonia ⚠
- p.Ile263Leu Single submitter dystonic disorder
- p.Ile263Thr Single submitter ⚠
- p.Ile281Val Single submitter dystonic disorder ⚠
- p.Ile296Val Single submitter dystonic disorder ⚠
- p.Ile38Met Single submitter dystonic disorder ⚠
- p.Leu42Ile Single submitter dystonic disorder ⚠
- p.Leu56Phe Single submitter dystonic disorder ⚠
- p.Leu96Val Single submitter dystonic disorder
- p.Lys226Arg Single submitter Inborn genetic diseases ⚠
- p.Lys248fs Single submitter dystonic disorder
- p.Lys275Arg Single submitter ⚠
- p.Lys317Glu Single submitter dystonic disorder ⚠
- p.Lys317Ter Single submitter
- p.Lys53Gln Single submitter ⚠
- p.Lys77Asn Single submitter ⚠
- p.Met202Thr Single submitter hereditary ataxia
- p.Met279Thr Single submitter dystonic disorder ⚠
- p.Phe138Leu Single submitter dystonic disorder ⚠
- p.Phe169Ser Single submitter early-onset generalized limb-onset dystonia ⚠
- p.Phe205Leu Single submitter ⚠
- p.Phe269Ser Single submitter ⚠
- p.Phe306Val Single submitter dystonic disorder ⚠
- p.Phe314Leu Single submitter dystonic disorder ⚠
- p.Phe84fs Single submitter dystonic disorder
- p.Pro139Gln Single submitter dystonic disorder ⚠
- p.Pro308Arg Single submitter ⚠
- p.Pro40Ala Single submitter dystonic disorder ⚠
- p.Pro90Ala Single submitter dystonic disorder ⚠
- p.Ser250Asn Single submitter Inborn genetic diseases ⚠
- p.Ser256Thr Single submitter dystonic disorder ⚠
- p.Ser57Arg Single submitter dystonic disorder ⚠
- p.Thr106Ile Single submitter dystonic disorder ⚠
- p.Thr215Ile Single submitter ⚠
- p.Thr35Asn Single submitter Inborn genetic diseases ⚠
- p.Thr97Arg Single submitter ⚠
- p.Tyr128Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr147Cys Single submitter ⚠
- p.Val159Met Single submitter Inborn genetic diseases ⚠
- p.Val322Met Single submitter dystonic disorder ⚠
- p.Val33Ile Single submitter Inborn genetic diseases ⚠
- p.Arg288Leu No assertion criteria ⚠
- p.Phe323_Tyr328del No assertion criteria Dystonia, early-onset atypical, with myoclonic features