ANO3 — 637 ClinVar variants
All ClinVar germline ANO3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 246 flagged for review →
5 Pathogenic · 3 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 13 Conflicting · 131 Benign · 13 Benign/Likely benign · 184 Likely benign · 285 Uncertain significance
Full ANO3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 246
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ANO3 p.Ile308Leu
Likely pathogenic
Single submitter
Inborn genetic diseases
-
ANO3 p.Lys862Asn
Pathogenic
No assertion criteria
dystonia 24
Predictors agree, ClinVar conflicts 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ANO3 p.Cys94Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
ANO3 p.Gln176Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ANO3 p.Gly239Arg
Conflicting
Single submitter
dystonic disorder
-
ANO3 p.Gly567Arg
Conflicting
Single submitter
dystonia 24
-
ANO3 p.Ile175Val
Conflicting
Single submitter
dystonic disorder
-
ANO3 p.Leu99Ile
Conflicting
Single submitter
dystonic disorder
-
ANO3 p.Lys133Arg
Conflicting
Single submitter
Inborn genetic diseases
-
ANO3 p.Pro856Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ANO3 p.Ser136Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
ANO3 p.Tyr235Cys
Conflicting
Single submitter
dystonic disorder
Predictors lean, ClinVar uncertain 172
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 172
-
ANO3 p.Ala41Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Ala41Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Ala638Thr
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Arg125His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Arg240Lys
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Arg305Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Arg34Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Arg368Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Arg514Cys
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Arg514His
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Arg727Gln
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Arg969Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Asn256Thr
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Asn603Asp
Uncertain significance
Multiple submitters
dystonia 24
-
ANO3 p.Asp272Glu
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Gln248Pro
Uncertain significance
Multiple submitters
dystonia 24
-
ANO3 p.Glu61Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Glu817Lys
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Ile205Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Ile927Ser
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Met405Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Ser335Thr
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Ser350Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Ser43Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Ser559Pro
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Ser870Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Thr120Ala
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Thr216Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Thr249Ser
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Val938Ile
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Ala105Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Ala105Thr
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Ala410Pro Uncertain significance Single submitter
-
ANO3 p.Ala41Pro
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ala41Val
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ala599Pro
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ala618Thr
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ala771Ser
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ala791Glu
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ala828Val
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ala97Val
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Arg123Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Arg253Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Arg287Trp
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Arg328His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Arg492Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Arg572Cys
Uncertain significance
Single submitter
dystonia 24
-
ANO3 p.Arg628Gln
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Arg628Pro
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Arg676Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Arg800Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Arg805Leu Uncertain significance Single submitter
-
ANO3 p.Arg913Lys
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Arg947Gln
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Asn455Ser
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Asn611Tyr Uncertain significance Single submitter
-
ANO3 p.Asn650Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Asn706Lys Uncertain significance Single submitter
- ANO3 p.Asn707Ser Uncertain significance Single submitter
-
ANO3 p.Asn739Ser
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Asn86Ser
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Asn88Ser
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Asp122Ala
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Asp122Gly
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Asp159Ala
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Asp165Tyr
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Asp382Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Asp468Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Asp502Glu Uncertain significance Single submitter
-
ANO3 p.Asp502Gly
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Asp731Asn
Uncertain significance
Single submitter
dystonia 24
-
ANO3 p.Asp740Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Asp89Asn
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Asp937Gly Uncertain significance Single submitter
-
ANO3 p.Asp98Ala
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Cys234Trp Uncertain significance Single submitter
-
ANO3 p.Gln52Arg
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Glu275Asp
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Glu432Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Glu505Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Glu85Asp
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Gly16Cys
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Gly16Val
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Gly191Asp
Uncertain significance
Single submitter
dystonia 24
-
ANO3 p.Gly413Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Gly471Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Gly661Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Gly6Val
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Gly820Asp Uncertain significance Single submitter
- ANO3 p.Gly820Cys Uncertain significance Single submitter
-
ANO3 p.Gly941Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.His211Arg
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.His363Arg Uncertain significance Single submitter
-
ANO3 p.His4Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.His666Arg
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.His908Arg Uncertain significance Single submitter
-
ANO3 p.His943Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.His964Pro Uncertain significance Single submitter
-
ANO3 p.His964Tyr
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ile132Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Ile327Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Ile331Lys Uncertain significance Single submitter
-
ANO3 p.Ile337Thr
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ile526Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Ile587Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Ile698Val
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ile729Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Ile73Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Ile809Arg
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Ile809Thr Uncertain significance Single submitter
-
ANO3 p.Ile825Thr
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Leu273Gln
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Leu365Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Leu487Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Leu503Val Uncertain significance Single submitter
- ANO3 p.Leu56Phe Uncertain significance Single submitter
-
ANO3 p.Leu743Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Leu756Ser Uncertain significance Single submitter
-
ANO3 p.Leu774Pro
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Leu789Val Uncertain significance Single submitter
-
ANO3 p.Leu99Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Lys141Glu
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Lys158Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Lys583Glu
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Met17Val Uncertain significance Single submitter
-
ANO3 p.Met244Ile
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Met247Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Met312Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Met479Ile
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Met524Val
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Met758Ile
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Phe467Ile Uncertain significance Single submitter
-
ANO3 p.Phe475Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Phe478Leu Uncertain significance Single submitter
-
ANO3 p.Phe762Leu
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Pro155Leu
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Pro341Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Pro515Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Pro684Arg
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Pro735Thr
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Pro776Ser Uncertain significance Single submitter
-
ANO3 p.Ser124Pro
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ser241Ile
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Ser430Arg Uncertain significance Single submitter
-
ANO3 p.Ser495Asn
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ser51Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Ser835Ala
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ser870Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Thr113Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Thr113Met
Uncertain significance
Single submitter
dystonic disorder
Predictors split 62
The independent predictors disagree with each other — read with care.
-
ANO3 p.Arg34Gly
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Arg371Cys
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Gly818Ala
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.His356Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Ile767Met
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Leu923Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Pro529Thr
Uncertain significance
Multiple submitters
dystonic disorder
-
ANO3 p.Tyr419Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Val570Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO3 p.Arg285Cys
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Arg315His
Uncertain significance
Single submitter
dystonia 24
-
ANO3 p.Arg328Cys
Benign
Single submitter
dystonic disorder
-
ANO3 p.Arg34Pro
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Arg368Gly Uncertain significance Single submitter
-
ANO3 p.Arg371His
Conflicting
Single submitter
Inborn genetic diseases
- ANO3 p.Arg676Gln Likely benign Single submitter
-
ANO3 p.Asn225Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Asp114His Uncertain significance Single submitter
- ANO3 p.Asp204Asn Uncertain significance Single submitter
-
ANO3 p.Asp277Gly
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Asp753Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Asp753Glu
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Gln516Arg
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Gln592Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Glu505Lys Uncertain significance Single submitter
-
ANO3 p.Glu508Val
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Glu921Gln
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Gly245Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Gly883Asp Uncertain significance Single submitter
- ANO3 p.Ile587Thr Uncertain significance Single submitter
-
ANO3 p.Ile653Val
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ile785Phe
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ile787Val
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ile931Phe
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Leu513Arg
Uncertain significance
Single submitter
dystonia 24
-
ANO3 p.Lys161Arg
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Lys462Glu
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Lys672Glu
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Met699Leu
Uncertain significance
Single submitter
dystonic disorder
- ANO3 p.Phe579Ile Uncertain significance Single submitter
-
ANO3 p.Phe586Val
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Pro203Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Pro262Leu Uncertain significance Single submitter
-
ANO3 p.Ser10Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Ser143Phe Uncertain significance Single submitter
-
ANO3 p.Ser349Asn
Uncertain significance
Single submitter
isolated cerebellar hypoplasia/agenesis
-
ANO3 p.Ser552Leu
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ser55Phe
Conflicting
Single submitter
Inborn genetic diseases
-
ANO3 p.Ser62Arg
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Ser90Cys
Uncertain significance
Single submitter
dystonia 24
-
ANO3 p.Ser90Phe
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Thr437Ile
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Thr531Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO3 p.Trp257Cys Uncertain significance Single submitter
-
ANO3 p.Trp980Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Tyr310Cys
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Tyr347Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Tyr884His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO3 p.Val412Ile
Uncertain significance
Single submitter
dystonic disorder
-
ANO3 p.Val416Ile
Likely benign
Single submitter
dystonic disorder
-
ANO3 p.Val953Ala
Uncertain significance
Single submitter
dystonia 24
-
ANO3 p.Ser685Gly
Pathogenic
No assertion criteria
dystonia 24
All ANO3 variants
Pathogenic 5
- p.Ser651Asn Single submitter dystonic disorder
- p.Arg494Trp No assertion criteria dystonia 24
- p.Lys862Asn No assertion criteria dystonia 24 ⚠
- p.Ser685Gly No assertion criteria dystonia 24 ⚠
- p.Trp490Cys No assertion criteria dystonia 24
Pathogenic/Likely pathogenic 3
- p.Asn648Ser Multiple submitters dystonic disorder
- p.Glu510Lys Multiple submitters dystonia 24
- p.Ile607Phe Multiple submitters Inborn genetic diseases
Likely pathogenic 3
- p.Ala657Thr Multiple submitters dystonic disorder
- p.Asn648Asp Single submitter dystonic disorder
- p.Ile308Leu Single submitter Inborn genetic diseases ⚠
Conflicting classifications of pathogenicity 13
- p.Arg371His Single submitter Inborn genetic diseases ⚠
- p.Cys94Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln176Leu Single submitter Inborn genetic diseases ⚠
- p.Gly239Arg Single submitter dystonic disorder ⚠
- p.Gly567Arg Single submitter dystonia 24 ⚠
- p.His20Tyr Single submitter dystonia 24
- p.Ile175Val Single submitter dystonic disorder ⚠
- p.Leu99Ile Single submitter dystonic disorder ⚠
- p.Lys133Arg Single submitter Inborn genetic diseases ⚠
- p.Pro856Ser Single submitter Inborn genetic diseases ⚠
- p.Ser136Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser55Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr235Cys Single submitter dystonic disorder ⚠
Benign 131
- c.1032+164G>A Multiple submitters
- c.1033-30A>T Multiple submitters dystonia 24
- c.1154+37T>G Multiple submitters dystonia 24
- c.1290-13del Multiple submitters dystonia 24
- c.1290-13G>T Multiple submitters dystonic disorder
- c.1290-166A>G Multiple submitters
- c.1290-19del Multiple submitters dystonic disorder
- c.1290-19G>T Multiple submitters dystonic disorder
- c.1290-205T>A Multiple submitters
- c.1290-25G>T Multiple submitters dystonia 24
- c.1290-56T>C Multiple submitters dystonia 24
- c.1447+198C>T Multiple submitters
- c.1447+57AC[18] Multiple submitters dystonia 24
- c.1447+57AC[21] Multiple submitters dystonia 24
- c.1448-40T>C Multiple submitters dystonia 24
- c.1530+107T>C Multiple submitters
- c.1671+9T>C Multiple submitters dystonic disorder
- c.1837-115A>T Multiple submitters
- c.1874-109A>T Multiple submitters
- c.1874-127T>C Multiple submitters
- c.1874-160T>C Multiple submitters
- c.1874-195C>T Multiple submitters
- c.1874-93G>A Multiple submitters
- c.1986-190T>C Multiple submitters
- c.2043+131A>C Multiple submitters
- c.2043+97C>G Multiple submitters dystonia 24
- c.2142-139A>T Multiple submitters
- c.2142-145T>A Multiple submitters
- c.2142-159T>C Multiple submitters
- c.2142-49A>G Multiple submitters dystonia 24
- c.2275+20dup Multiple submitters dystonia 24
- c.229+22171C>G Multiple submitters
- c.229+22295T>C Multiple submitters
- c.229+22377T>A Multiple submitters
- c.2429-89A>C Multiple submitters
- c.2658-56T>C Multiple submitters dystonia 24
- c.313+117G>A Multiple submitters
- c.314-81G>C Multiple submitters
- c.46+83G>T Multiple submitters dystonia 24
- c.591+91G>C Multiple submitters
- c.737+122G>A Multiple submitters
- c.737+127T>G Multiple submitters
- c.738-50T>C Multiple submitters dystonia 24
- c.738-56T>A Multiple submitters dystonia 24
- c.738-73T>A Multiple submitters dystonia 24
- c.869+174G>A Multiple submitters
- c.870-7T>C Multiple submitters dystonic disorder
- c.977-112G>A Multiple submitters
- c.977-6T>C Multiple submitters dystonia 24
- c.977-80T>C Multiple submitters dystonia 24
- c.-12C>T Multiple submitters
- c.*43G>A Multiple submitters
- c.*9T>C Multiple submitters
- p.Ala564= Multiple submitters dystonic disorder
- p.Leu386= Multiple submitters dystonic disorder
- p.Phe637= Multiple submitters dystonia 24
- p.Phe663= Multiple submitters dystonic disorder
- p.Pro894= Multiple submitters dystonic disorder
- p.Ser116= Multiple submitters dystonic disorder
- c.1033-305_1033-304del Single submitter
- c.1033-312G>A Single submitter
- c.1033-313T>C Single submitter
- c.1033-9C>G Single submitter dystonic disorder
- c.1289+143_1289+144del Single submitter
- c.1289+143del Single submitter
- c.1289+143G>T Single submitter
- c.1289+305G>A Single submitter
- c.1290-13_1290-12del Single submitter dystonic disorder
- c.1290-14dup Single submitter dystonic disorder
- c.1290-253T>G Single submitter
- c.1447+57AC[16] Single submitter
- c.1447+57AC[17] Single submitter
- c.1447+57AC[19] Single submitter
- c.1447+73_1447+74insTA Single submitter
- c.1448-144G>A Single submitter
- c.1448-254G>A Single submitter
- c.1531-3T>C Single submitter dystonic disorder
- c.1672-133T>G Single submitter
- c.1837-198A>G Single submitter
- c.1837-226A>G Single submitter
- c.1837-301T>C Single submitter
- c.1874-107_1874-106dup Single submitter
- c.1874-108_1874-106dup Single submitter
- c.1874-109_1874-106dup Single submitter
- c.1874-109_1874-108insT Single submitter
- c.1874-110_1874-109insT Single submitter
- c.1874-20G>A Single submitter dystonic disorder
- c.1874-21T>A Single submitter
- c.1874-298A>G Single submitter
- c.1874-299C>A Single submitter
- c.2043+278del Single submitter
- c.2043+35G>A Single submitter
- c.2142-189T>A Single submitter
- c.2142-190A>T Single submitter
- c.2142-197A>T Single submitter
- c.2275+14del Single submitter dystonic disorder
- c.2275+14dup Single submitter dystonic disorder
- c.2275+286T>A Single submitter
- c.2275+295C>T Single submitter
- c.242-80_242-77del Single submitter
- c.2429-161G>A Single submitter
- c.2576+151A>G Single submitter
- c.2576+193C>T Single submitter
- c.2577-20A>G Single submitter dystonic disorder
- c.314-314_314-312del Single submitter
- c.46+136_46+139dup Single submitter
- c.46+139del Single submitter
- c.46+139dup Single submitter
- c.592-12T>C Single submitter dystonic disorder
- c.592-143dup Single submitter
- c.592-255G>T Single submitter
- c.592-307C>T Single submitter
- c.692+163C>T Single submitter
- c.692+274G>A Single submitter
- c.692+300G>A Single submitter
- c.693-195A>G Single submitter
- c.693-197G>A Single submitter
- c.693-251_693-248del Single submitter
- c.737+263_737+264del Single submitter
- c.738-284_738-281del Single submitter
- c.738-305A>C Single submitter
- c.976+145A>G Single submitter
- c.976+286G>A Single submitter
- p.Arg328Cys Single submitter dystonic disorder ⚠
- p.Glu274= Single submitter dystonic disorder
- p.Ile411Val Single submitter dystonic disorder
- p.Leu813= Single submitter dystonic disorder
- p.Pro342= Single submitter dystonic disorder
- p.Ser652= Single submitter dystonic disorder
- p.Tyr460= Single submitter dystonic disorder
- p.Tyr845= Single submitter dystonic disorder
Benign/Likely benign 13
- c.1032+15C>T Multiple submitters dystonic disorder
- c.1290-14del Multiple submitters dystonic disorder
- c.1290-5_1290-4del Multiple submitters dystonia 24
- c.1290-6C>T Multiple submitters dystonic disorder
- c.1290-7del Multiple submitters dystonia 24
- c.1836+19A>G Multiple submitters dystonic disorder
- c.2657+44A>T Multiple submitters dystonia 24
- p.Asp238= Multiple submitters dystonic disorder
- p.Asp937= Multiple submitters dystonic disorder
- p.Ile656= Multiple submitters dystonic disorder
- p.Leu639= Multiple submitters dystonic disorder
- p.Phe467= Multiple submitters dystonic disorder
- p.Pro939= Multiple submitters dystonic disorder
Likely benign 184
- c.1290-13G>A Multiple submitters dystonic disorder
- c.1290-44T>C Multiple submitters
- c.1873+135G>A Multiple submitters
- c.433-126C>T Multiple submitters
- c.*192C>T Multiple submitters
- p.Ala804= Multiple submitters
- p.Gln797= Multiple submitters dystonic disorder
- p.Ser29= Multiple submitters dystonic disorder
- c.1032+15_1032+16del Single submitter dystonic disorder
- c.1033-4G>T Single submitter
- c.1154+13G>A Single submitter dystonic disorder
- c.1290-13_1290-10del Single submitter dystonic disorder
- c.1290-14_1290-13delinsGT Single submitter dystonic disorder
- c.1290-14T>G Single submitter dystonic disorder
- c.1290-17T>G Single submitter dystonic disorder
- c.1290-18T>C Single submitter dystonic disorder
- c.1290-19_1290-18del Single submitter dystonic disorder
- c.1290-19_1290-8del Single submitter dystonic disorder
- c.1290-20dup Single submitter
- c.1290-20T>G Single submitter dystonic disorder
- c.1290-26_1290-25insTTTTT Single submitter
- c.1290-27_1290-26dup Single submitter
- c.1290-6dup Single submitter dystonic disorder
- c.1386+7G>A Single submitter dystonic disorder
- c.1387-18T>C Single submitter dystonic disorder
- c.1447+15_1447+18del Single submitter dystonic disorder
- c.1447+57AC[22] Single submitter
- c.1448-11A>T Single submitter dystonic disorder
- c.1448-206A>T Single submitter
- c.1530+8G>A Single submitter dystonic disorder
- c.1531-13G>A Single submitter dystonic disorder
- c.1531-9C>T Single submitter dystonic disorder
- c.1671+16C>T Single submitter dystonic disorder
- c.1671+17G>A Single submitter dystonic disorder
- c.1672-199A>G Single submitter
- c.1672-9A>C Single submitter dystonic disorder
- c.1836+12T>C Single submitter dystonic disorder
- c.1837-180A>C Single submitter
- c.1837-18T>C Single submitter dystonic disorder
- c.1874-11G>A Single submitter dystonic disorder
- c.1874-13G>A Single submitter dystonic disorder
- c.1874-239C>A Single submitter
- c.1985+28C>T Single submitter
- c.1986-20A>G Single submitter dystonic disorder
- c.2043+279A>T Single submitter
- c.2043+9C>A Single submitter dystonic disorder
- c.2044-13T>C Single submitter dystonic disorder
- c.2044-20G>A Single submitter dystonic disorder
- c.2141+12A>G Single submitter dystonic disorder
- c.2141+258G>C Single submitter
- c.2275+14A>T Single submitter dystonic disorder
- c.2275+19C>G Single submitter dystonic disorder
- c.2275+20A>G Single submitter dystonic disorder
- c.2275+313_2275+322del Single submitter
- c.241+18T>C Single submitter dystonic disorder
- c.242-19G>A Single submitter dystonic disorder
- c.242-2A>C Single submitter dystonic disorder
- c.2428+10G>A Single submitter dystonic disorder
- c.2428+12A>T Single submitter dystonic disorder
- c.2428+15T>G Single submitter dystonic disorder
- c.2428+9C>T Single submitter dystonic disorder
- c.2429-308C>T Single submitter
- c.2429-9T>C Single submitter dystonic disorder
- c.2576+16A>G Single submitter dystonic disorder
- c.2576+80T>C Single submitter
- c.2576+9T>G Single submitter dystonic disorder
- c.2577-11T>C Single submitter dystonic disorder
- c.2577-240A>G Single submitter
- c.2657+10A>G Single submitter dystonic disorder
- c.2657+16A>G Single submitter dystonic disorder
- c.2658-10T>C Single submitter dystonic disorder
- c.2764-308G>A Single submitter
- c.313+88dup Single submitter
- c.313+8G>A Single submitter dystonic disorder
- c.314-11_314-6del Single submitter dystonic disorder
- c.314-276G>A Single submitter
- c.314-4A>G Single submitter dystonic disorder
- c.314-8T>C Single submitter dystonic disorder
- c.314-9_314-6del Single submitter dystonic disorder
- c.432+165A>G Single submitter
- c.432+8G>A Single submitter dystonic disorder
- c.433-18T>C Single submitter dystonic disorder
- c.433-4G>T Single submitter dystonic disorder
- c.46+137_46+139dup Single submitter
- c.46+138_46+139dup Single submitter
- c.47-10G>C Single submitter dystonic disorder
- c.591+243G>A Single submitter
- c.591+270A>G Single submitter
- c.592-17C>T Single submitter dystonic disorder
- c.592-9_592-7del Single submitter dystonic disorder
- c.692+148T>C Single submitter
- c.693-113A>G Single submitter
- c.693-14T>C Single submitter dystonic disorder
- c.693-154C>T Single submitter
- c.693-4dup Single submitter dystonic disorder
- c.737+119G>T Single submitter
- c.738-11C>A Single submitter dystonic disorder
- c.738-7A>T Single submitter dystonic disorder
- c.869+19T>A Single submitter dystonic disorder
- c.869+226C>T Single submitter
- c.869+7T>A Single submitter dystonic disorder
- c.870-13C>T Single submitter dystonic disorder
- c.870-17T>C Single submitter dystonic disorder
- c.976+20del Single submitter dystonic disorder
- c.977-14T>A Single submitter dystonic disorder
- c.-143G>A Single submitter
- c.-54C>T Single submitter
- p.Ala339= Single submitter dystonic disorder
- p.Ala397= Single submitter dystonic disorder
- p.Ala409= Single submitter dystonic disorder
- p.Ala791= Single submitter dystonic disorder
- p.Ala832= Single submitter dystonic disorder
- p.Arg368= Single submitter dystonic disorder
- p.Arg494= Single submitter dystonic disorder
- p.Arg676= Single submitter dystonic disorder
- p.Arg676Gln Single submitter ⚠
- p.Arg969Gln Single submitter
- p.Asn469= Single submitter dystonic disorder
- p.Asn635= Single submitter dystonic disorder
- p.Asn671= Single submitter dystonic disorder
- p.Asp129= Single submitter dystonic disorder
- p.Asp178= Single submitter dystonic disorder
- p.Asp502= Single submitter dystonic disorder
- p.Asp740= Single submitter dystonic disorder
- p.Cys415= Single submitter dystonic disorder
- p.Gln589= Single submitter dystonic disorder
- p.Gln761= Single submitter dystonic disorder
- p.Gln905= Single submitter dystonic disorder
- p.Gln968del Single submitter dystonic disorder
- p.Glu61Ala Single submitter dystonic disorder
- p.Glu630= Single submitter dystonic disorder
- p.Glu738= Single submitter dystonic disorder
- p.Glu901= Single submitter dystonic disorder
- p.Gly345= Single submitter dystonic disorder
- p.His118= Single submitter dystonic disorder
- p.His4= Single submitter dystonic disorder
- p.His922= Single submitter dystonic disorder
- p.Ile200Val Single submitter Inborn genetic diseases
- p.Ile605Val Single submitter Inborn genetic diseases
- p.Leu364= Single submitter dystonic disorder
- p.Leu40= Single submitter dystonic disorder
- p.Leu513= Single submitter dystonic disorder
- p.Leu560= Single submitter dystonic disorder
- p.Leu780= Single submitter dystonic disorder
- p.Leu816= Single submitter dystonic disorder
- p.Leu869= Single submitter dystonic disorder
- p.Leu965= Single submitter dystonic disorder
- p.Lys110= Single submitter dystonic disorder
- p.Lys139= Single submitter dystonic disorder
- p.Lys267= Single submitter dystonic disorder
- p.Met263Val Single submitter dystonia 24
- p.Phe283= Single submitter dystonic disorder
- p.Phe422= Single submitter dystonic disorder
- p.Phe708= Single submitter dystonic disorder
- p.Phe764= Single submitter dystonic disorder
- p.Pro203= Single submitter dystonic disorder
- p.Pro534= Single submitter
- p.Pro776= Single submitter
- p.Ser35Cys Single submitter
- p.Ser631= Single submitter dystonic disorder
- p.Ser74= Single submitter dystonic disorder
- p.Ser868= Single submitter dystonic disorder
- p.Ser90= Single submitter dystonic disorder
- p.Thr182= Single submitter dystonic disorder
- p.Thr216= Single submitter dystonic disorder
- p.Thr237= Single submitter dystonic disorder
- p.Thr298= Single submitter dystonic disorder
- p.Thr304= Single submitter dystonic disorder
- p.Thr484= Single submitter dystonic disorder
- p.Thr498= Single submitter
- p.Thr531= Single submitter dystonic disorder
- p.Thr60= Single submitter dystonic disorder
- p.Thr622= Single submitter dystonic disorder
- p.Thr903= Single submitter dystonic disorder
- p.Tyr419= Single submitter dystonic disorder
- p.Tyr44= Single submitter dystonic disorder
- p.Tyr499= Single submitter dystonic disorder
- p.Tyr906= Single submitter dystonic disorder
- p.Tyr951= Single submitter dystonic disorder
- p.Val416Ile Single submitter dystonic disorder ⚠
- p.Val485= Single submitter dystonic disorder
- p.Val551= Single submitter dystonic disorder
- p.Val842= Single submitter dystonic disorder
- c.1154+4C>T No assertion criteria ANO3-related disorder
Uncertain significance 285
- c.1836+4A>C Multiple submitters dystonic disorder
- c.2141+1G>A Multiple submitters dystonic disorder
- c.2276-6T>C Multiple submitters dystonic disorder
- c.2764-5T>G Multiple submitters dystonic disorder
- c.432+4A>G Multiple submitters dystonic disorder
- p.Ala41Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala41Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala638Thr Multiple submitters dystonic disorder ⚠
- p.Arg125His Multiple submitters Inborn genetic diseases ⚠
- p.Arg240Lys Multiple submitters dystonic disorder ⚠
- p.Arg305Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg34Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg34Gly Multiple submitters dystonic disorder ⚠
- p.Arg368Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg371Cys Multiple submitters dystonic disorder ⚠
- p.Arg514Cys Multiple submitters dystonic disorder ⚠
- p.Arg514His Multiple submitters dystonic disorder ⚠
- p.Arg727Gln Multiple submitters dystonic disorder ⚠
- p.Arg969Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn256Thr Multiple submitters dystonic disorder ⚠
- p.Asn603Asp Multiple submitters dystonia 24 ⚠
- p.Asp272Glu Multiple submitters dystonic disorder ⚠
- p.Gln248Pro Multiple submitters dystonia 24 ⚠
- p.Glu61Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu817Lys Multiple submitters dystonic disorder ⚠
- p.Gly818Ala Multiple submitters dystonic disorder ⚠
- p.His356Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile205Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile767Met Multiple submitters dystonic disorder ⚠
- p.Ile927Ser Multiple submitters dystonic disorder ⚠
- p.Leu923Phe Multiple submitters Inborn genetic diseases ⚠
- p.Met405Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro529Thr Multiple submitters dystonic disorder ⚠
- p.Ser276Ter Multiple submitters dystonia 24
- p.Ser335Thr Multiple submitters dystonic disorder ⚠
- p.Ser350Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser43Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser559Pro Multiple submitters dystonic disorder ⚠
- p.Ser870Phe Multiple submitters Inborn genetic diseases ⚠
- p.Thr120Ala Multiple submitters dystonic disorder ⚠
- p.Thr216Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr249Ser Multiple submitters dystonic disorder ⚠
- p.Tyr419Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val570Met Multiple submitters Inborn genetic diseases ⚠
- p.Val938Ile Multiple submitters dystonic disorder ⚠
- c.1155-3C>T Single submitter dystonic disorder
- c.1386+3G>A Single submitter dystonic disorder
- c.1386+6T>G Single submitter dystonic disorder
- c.1387-1G>A Single submitter
- c.1447+5G>A Single submitter dystonic disorder
- c.1448-18C>T Single submitter
- c.1671+19T>C Single submitter dystonic disorder
- c.1671+4A>C Single submitter dystonic disorder
- c.2043+1G>A Single submitter dystonic disorder
- c.2276-3C>T Single submitter dystonic disorder
- c.2576+6G>T Single submitter dystonic disorder
- c.2577-2A>G Single submitter dystonic disorder
- c.2657+1G>T Single submitter
- c.2658-3C>T Single submitter dystonic disorder
- c.46+3C>T Single submitter dystonic disorder
- c.591+4G>C Single submitter dystonic disorder
- c.692+1G>A Single submitter dystonic disorder
- c.693-9_695del Single submitter
- c.737+12A>G Single submitter dystonic disorder
- p.Ala105Asp Single submitter Inborn genetic diseases ⚠
- p.Ala105Thr Single submitter dystonic disorder ⚠
- p.Ala410Pro Single submitter ⚠
- p.Ala41Pro Single submitter dystonic disorder ⚠
- p.Ala41Val Single submitter dystonic disorder ⚠
- p.Ala599Pro Single submitter dystonic disorder ⚠
- p.Ala618Thr Single submitter dystonic disorder ⚠
- p.Ala770= Single submitter dystonic disorder
- p.Ala771Ser Single submitter dystonic disorder ⚠
- p.Ala791Glu Single submitter dystonic disorder ⚠
- p.Ala828Val Single submitter dystonic disorder ⚠
- p.Ala97Val Single submitter dystonic disorder ⚠
- p.Arg123Gln Single submitter Inborn genetic diseases ⚠
- p.Arg253Lys Single submitter Inborn genetic diseases ⚠
- p.Arg285Cys Single submitter dystonic disorder ⚠
- p.Arg287Trp Single submitter dystonic disorder ⚠
- p.Arg315His Single submitter dystonia 24 ⚠
- p.Arg328His Single submitter Inborn genetic diseases ⚠
- p.Arg34Pro Single submitter dystonic disorder ⚠
- p.Arg368Gly Single submitter ⚠
- p.Arg492Lys Single submitter Inborn genetic diseases ⚠
- p.Arg494del Single submitter dystonic disorder
- p.Arg572Cys Single submitter dystonia 24 ⚠
- p.Arg628Gln Single submitter dystonic disorder ⚠
- p.Arg628Pro Single submitter dystonic disorder ⚠
- p.Arg628Ter Single submitter dystonia 24
- p.Arg676Pro Single submitter Inborn genetic diseases ⚠
- p.Arg800Lys Single submitter Inborn genetic diseases ⚠
- p.Arg805Leu Single submitter ⚠
- p.Arg805Ter Single submitter dystonic disorder
- p.Arg886= Single submitter dystonic disorder
- p.Arg913Lys Single submitter dystonic disorder ⚠
- p.Arg947Gln Single submitter dystonic disorder ⚠
- p.Arg947Ter Single submitter dystonic disorder
- p.Asn225Thr Single submitter Inborn genetic diseases ⚠
- p.Asn455Ser Single submitter dystonic disorder ⚠
- p.Asn611Tyr Single submitter ⚠
- p.Asn650Lys Single submitter Inborn genetic diseases ⚠
- p.Asn706Lys Single submitter ⚠
- p.Asn707Ser Single submitter ⚠
- p.Asn739Ser Single submitter dystonic disorder ⚠
- p.Asn782= Single submitter
- p.Asn86Ser Single submitter dystonic disorder ⚠
- p.Asn88Ser Single submitter dystonic disorder ⚠
- p.Asp114His Single submitter ⚠
- p.Asp122Ala Single submitter dystonic disorder ⚠
- p.Asp122Gly Single submitter dystonic disorder ⚠
- p.Asp159Ala Single submitter dystonic disorder ⚠
- p.Asp165Tyr Single submitter dystonic disorder ⚠
- p.Asp204Asn Single submitter ⚠
- p.Asp277Gly Single submitter dystonic disorder ⚠
- p.Asp382Gly Single submitter Inborn genetic diseases ⚠
- p.Asp468Asn Single submitter Inborn genetic diseases ⚠
- p.Asp502Glu Single submitter ⚠
- p.Asp502Gly Single submitter dystonic disorder ⚠
- p.Asp731Asn Single submitter dystonia 24 ⚠
- p.Asp740Asn Single submitter Inborn genetic diseases ⚠
- p.Asp753Asn Single submitter Inborn genetic diseases ⚠
- p.Asp753Glu Single submitter dystonic disorder ⚠
- p.Asp89Asn Single submitter dystonic disorder ⚠
- p.Asp937Gly Single submitter ⚠
- p.Asp98Ala Single submitter dystonic disorder ⚠
- p.Cys234Ter Single submitter dystonia 24
- p.Cys234Trp Single submitter ⚠
- p.Gln40Ter Single submitter dystonia 24
- p.Gln42Ter Single submitter dystonic disorder
- p.Gln516Arg Single submitter dystonic disorder ⚠
- p.Gln52Arg Single submitter dystonic disorder ⚠
- p.Gln538Ter Single submitter
- p.Gln589Ter Single submitter
- p.Gln592Pro Single submitter Inborn genetic diseases ⚠
- p.Glu275Asp Single submitter dystonic disorder ⚠
- p.Glu27Ter Single submitter
- p.Glu432Gln Single submitter Inborn genetic diseases ⚠
- p.Glu505Asp Single submitter Inborn genetic diseases ⚠
- p.Glu505Lys Single submitter ⚠
- p.Glu508Ter Single submitter dystonic disorder
- p.Glu508Val Single submitter dystonic disorder ⚠
- p.Glu85Asp Single submitter dystonic disorder ⚠
- p.Glu921Gln Single submitter dystonic disorder ⚠
- p.Gly16Cys Single submitter dystonic disorder ⚠
- p.Gly16Val Single submitter dystonic disorder ⚠
- p.Gly191Asp Single submitter dystonia 24 ⚠
- p.Gly245Val Single submitter Inborn genetic diseases ⚠
- p.Gly413Cys Single submitter Inborn genetic diseases ⚠
- p.Gly471Glu Single submitter Inborn genetic diseases ⚠
- p.Gly661Glu Single submitter Inborn genetic diseases ⚠
- p.Gly6Val Single submitter dystonic disorder ⚠
- p.Gly728Ter Single submitter dystonic disorder
- p.Gly820Asp Single submitter ⚠
- p.Gly820Cys Single submitter ⚠
- p.Gly883Asp Single submitter ⚠
- p.Gly941Val Single submitter Inborn genetic diseases ⚠
- p.His211Arg Single submitter dystonic disorder ⚠
- p.His363Arg Single submitter ⚠
- p.His4Asn Single submitter Inborn genetic diseases ⚠
- p.His666Arg Single submitter dystonic disorder ⚠
- p.His908Arg Single submitter ⚠
- p.His943Arg Single submitter Inborn genetic diseases ⚠
- p.His964Pro Single submitter ⚠
- p.His964Tyr Single submitter dystonic disorder ⚠
- p.Ile132Val Single submitter Inborn genetic diseases ⚠
- p.Ile327Val Single submitter Inborn genetic diseases ⚠
- p.Ile331Lys Single submitter ⚠
- p.Ile337Thr Single submitter dystonic disorder ⚠
- p.Ile384= Single submitter dystonic disorder
- p.Ile526Val Single submitter Inborn genetic diseases ⚠
- p.Ile587Met Single submitter Inborn genetic diseases ⚠
- p.Ile587Thr Single submitter ⚠
- p.Ile653Val Single submitter dystonic disorder ⚠
- p.Ile698Val Single submitter dystonic disorder ⚠
- p.Ile729Met Single submitter Inborn genetic diseases ⚠
- p.Ile73Val Single submitter Inborn genetic diseases ⚠
- p.Ile785Phe Single submitter dystonic disorder ⚠
- p.Ile787Val Single submitter dystonic disorder ⚠
- p.Ile809Arg Single submitter dystonic disorder ⚠
- p.Ile809Thr Single submitter ⚠
- p.Ile825Thr Single submitter dystonic disorder ⚠
- p.Ile931Phe Single submitter dystonic disorder ⚠
- p.Leu273Gln Single submitter dystonic disorder ⚠
- p.Leu365Ile Single submitter Inborn genetic diseases ⚠
- p.Leu487Pro Single submitter Inborn genetic diseases ⚠
- p.Leu503Val Single submitter ⚠
- p.Leu513Arg Single submitter dystonia 24 ⚠
- p.Leu56Phe Single submitter ⚠
- p.Leu743Val Single submitter Inborn genetic diseases ⚠
- p.Leu756Ser Single submitter ⚠
- p.Leu774Pro Single submitter dystonic disorder ⚠
- p.Leu781= Single submitter
- p.Leu789Val Single submitter ⚠
- p.Leu99Arg Single submitter Inborn genetic diseases ⚠
- p.Lys141Glu Single submitter dystonic disorder ⚠
- p.Lys144= Single submitter
- p.Lys158Gln Single submitter Inborn genetic diseases ⚠
- p.Lys161Arg Single submitter dystonic disorder ⚠
- p.Lys219= Single submitter
- p.Lys447Ter Single submitter
- p.Lys462Glu Single submitter dystonic disorder ⚠
- p.Lys583Glu Single submitter dystonic disorder ⚠
- p.Lys672Glu Single submitter dystonic disorder ⚠
- p.Met17Val Single submitter ⚠
- p.Met244Ile Single submitter dystonic disorder ⚠
- p.Met247Ile Single submitter Inborn genetic diseases ⚠
- p.Met312Val Single submitter Inborn genetic diseases ⚠
- p.Met479Ile Single submitter dystonic disorder ⚠
- p.Met524Val Single submitter dystonic disorder ⚠
- p.Met699Leu Single submitter dystonic disorder ⚠
- p.Met758Ile Single submitter dystonic disorder ⚠
- p.Phe16Leu Single submitter
- p.Phe467Ile Single submitter ⚠
- p.Phe474_Phe475insSerValPhe Single submitter
- p.Phe475Leu Single submitter Inborn genetic diseases ⚠
- p.Phe478Leu Single submitter ⚠
- p.Phe579Ile Single submitter ⚠
- p.Phe586Val Single submitter dystonic disorder ⚠
- p.Phe762Leu Single submitter dystonic disorder ⚠
- p.Pro155Leu Single submitter dystonic disorder ⚠
- p.Pro203Ala Single submitter Inborn genetic diseases ⚠
- p.Pro262Leu Single submitter ⚠
- p.Pro341Thr Single submitter Inborn genetic diseases ⚠
- p.Pro515Ala Single submitter Inborn genetic diseases ⚠
- p.Pro684Arg Single submitter dystonic disorder ⚠
- p.Pro735Thr Single submitter dystonic disorder ⚠
- p.Pro776Ser Single submitter ⚠
- p.Ser10Phe Single submitter Inborn genetic diseases ⚠
- p.Ser124Pro Single submitter dystonic disorder ⚠
- p.Ser143fs Single submitter
- p.Ser143Phe Single submitter ⚠
- p.Ser241Ile Single submitter dystonic disorder ⚠
- p.Ser349Asn Single submitter isolated cerebellar hypoplasia/agenesis ⚠
- p.Ser430Arg Single submitter ⚠
- p.Ser495Asn Single submitter dystonic disorder ⚠
- p.Ser51Thr Single submitter Inborn genetic diseases ⚠
- p.Ser552Leu Single submitter dystonic disorder ⚠
- p.Ser62Arg Single submitter dystonic disorder ⚠
- p.Ser835Ala Single submitter dystonic disorder ⚠
- p.Ser870Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser90Cys Single submitter dystonia 24 ⚠
- p.Ser90Phe Single submitter dystonic disorder ⚠
- p.Ter982Cys Single submitter
- p.Thr113Arg Single submitter Inborn genetic diseases ⚠
- p.Thr113Met Single submitter dystonic disorder ⚠
- p.Thr237Ala Single submitter ⚠
- p.Thr437Ile Single submitter dystonic disorder ⚠
- p.Thr512Ile Single submitter dystonic disorder ⚠
- p.Thr531Ala Single submitter Inborn genetic diseases ⚠
- p.Thr54Ala Single submitter dystonia 24 ⚠
- p.Thr54Ile Single submitter ⚠
- p.Thr54Ser Single submitter Inborn genetic diseases ⚠
- p.Thr68Ala Single submitter Inborn genetic diseases ⚠
- p.Thr71Ser Single submitter dystonic disorder ⚠
- p.Thr75Ala Single submitter dystonic disorder ⚠
- p.Thr826Pro Single submitter Inborn genetic diseases ⚠
- p.Thr83Asn Single submitter dystonic disorder ⚠
- p.Thr903Ile Single submitter Inborn genetic diseases ⚠
- p.Trp257Cys Single submitter ⚠
- p.Trp372Arg Single submitter dystonic disorder ⚠
- p.Trp719Ter Single submitter dystonic disorder
- p.Trp720Ter Single submitter dystonic disorder
- p.Trp980Arg Single submitter Inborn genetic diseases ⚠
- p.Trp980Ter Single submitter
- p.Tyr310Cys Single submitter dystonic disorder ⚠
- p.Tyr336Ter Single submitter
- p.Tyr347Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr571Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr670Cys Single submitter dystonic disorder ⚠
- p.Tyr713= Single submitter
- p.Tyr884His Single submitter Inborn genetic diseases ⚠
- p.Tyr884Phe Single submitter dystonic disorder ⚠
- p.Tyr900fs Single submitter dystonic disorder
- p.Val131Phe Single submitter Inborn genetic diseases ⚠
- p.Val264Ile Single submitter Inborn genetic diseases ⚠
- p.Val325fs Single submitter dystonia 24
- p.Val412Ile Single submitter dystonic disorder ⚠
- p.Val565Leu Single submitter dystonic disorder ⚠
- p.Val664Ile Single submitter dystonic disorder ⚠
- p.Val697Asp Single submitter dystonia 24 ⚠
- p.Val769Ala Single submitter dystonia 24 ⚠
- p.Val953Ala Single submitter dystonia 24 ⚠
- p.Arg125Gly No assertion criteria ANO3-related disorder ⚠
- p.Ter982Trp No assertion criteria