CIZ1 — 438 ClinVar variants
All ClinVar germline CIZ1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 207 flagged for review →
14 Conflicting · 55 Benign · 9 Benign/Likely benign · 130 Likely benign · 230 Uncertain significance
Full CIZ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 207
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CIZ1 p.Arg329Gln
Conflicting
Single submitter
dystonic disorder
-
CIZ1 p.Arg883Gln
Conflicting
Single submitter
dystonic disorder
-
CIZ1 p.Gln470Pro
Conflicting
Single submitter
dystonic disorder
-
CIZ1 p.Gln869Glu
Conflicting
Single submitter
dystonic disorder
-
CIZ1 p.Pro235Ser
Conflicting
Single submitter
dystonic disorder
-
CIZ1 p.Pro283Leu
Conflicting
Single submitter
dystonic disorder
-
CIZ1 p.Pro61Ala
Conflicting
Single submitter
dystonic disorder
-
CIZ1 p.Thr645Arg
Conflicting
Single submitter
dystonic disorder
-
CIZ1 p.Val279Met
Conflicting
Single submitter
dystonic disorder
-
CIZ1 p.Val689Ile
Conflicting
Single submitter
dystonic disorder
Predictors lean, ClinVar uncertain 158
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 158
-
CIZ1 p.Ala128Ser
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Ala345Val
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Ala523Ser
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Ala833Gly
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Arg286Gln
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Arg571His
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Arg640Gln
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Arg865His
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Asn180Lys
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Asp207Asn
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Gln358His
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Gln426Pro
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Gln464His
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Gln478Leu
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Glu774Asp
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Gly525Ala
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Gly529Glu
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Gly742Asp
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Ile238Val
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Ile678Thr
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Ile756Met
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Leu896Pro
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Pro290Leu
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Pro450Ser
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Pro469Leu
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Pro570Ser
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Ser772Pro
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Ser779Leu
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Thr579Ala
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Val167Ile
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Val443Ile
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Val642Ile
Uncertain significance
Multiple submitters
dystonic disorder
- CIZ1 p.Ala133Val Uncertain significance Single submitter
- CIZ1 p.Ala219Val Uncertain significance Single submitter
- CIZ1 p.Ala302Thr Uncertain significance Single submitter
-
CIZ1 p.Ala475Val
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Ala581Val
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Ala833Val Uncertain significance Single submitter
-
CIZ1 p.Ala855Ser
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Ala858Val
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Arg123Gln Uncertain significance Single submitter
-
CIZ1 p.Arg179Gln
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Arg179Trp
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Arg186Trp
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Arg222Gly
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Arg243His
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Arg263Lys
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Arg310Gly Uncertain significance Single submitter
- CIZ1 p.Arg314Gln Uncertain significance Single submitter
- CIZ1 p.Arg314Trp Uncertain significance Single submitter
-
CIZ1 p.Arg329Trp
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Arg389Ser
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Arg571Cys
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Arg620Gln
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Arg847Trp
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Asn175Ser Uncertain significance Single submitter
- CIZ1 p.Asn520Ile Uncertain significance Single submitter
-
CIZ1 p.Asp749Val
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Asp752Gly
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Gln182His Uncertain significance Single submitter
-
CIZ1 p.Gln276Arg
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Gln312Pro Uncertain significance Single submitter
- CIZ1 p.Gln317Glu Uncertain significance Single submitter
- CIZ1 p.Gln319Lys Uncertain significance Single submitter
-
CIZ1 p.Gln321Arg
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Gln360Arg Uncertain significance Single submitter
-
CIZ1 p.Gln408His
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Gln422Lys
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Gln65Leu Uncertain significance Single submitter
- CIZ1 p.Gln7Leu Uncertain significance Single submitter
-
CIZ1 p.Glu213Asp
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Glu256Asp Uncertain significance Single submitter
- CIZ1 p.Glu272Ala Uncertain significance Single submitter
- CIZ1 p.Glu301Gly Uncertain significance Single submitter
-
CIZ1 p.Glu530Lys
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Glu537Asp
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Glu644Lys
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Glu757Lys
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Glu760Asp
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Glu761Lys
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Gly131Val Uncertain significance Single submitter
- CIZ1 p.Gly214Glu Uncertain significance Single submitter
-
CIZ1 p.Gly275Arg
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Gly545Arg
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Gly58Val
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Gly622Glu
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Gly778Ala
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Gly778Asp
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Gly798Ser
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Gly82Ser Uncertain significance Single submitter
- CIZ1 p.His412Gln Uncertain significance Single submitter
-
CIZ1 p.Ile800Met
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Leu122Phe
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Leu132Val
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Leu257Gln
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Leu80Phe
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Lys208Gln Uncertain significance Single submitter
- CIZ1 p.Lys271Glu Uncertain significance Single submitter
-
CIZ1 p.Lys373Thr
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Lys777Glu Uncertain significance Single submitter
-
CIZ1 p.Lys875Arg
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Lys879Arg
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Met127Val Uncertain significance Single submitter
-
CIZ1 p.Met169Val
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Met287Ile
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Met287Thr Uncertain significance Single submitter
- CIZ1 p.Met490Ile Uncertain significance Single submitter
-
CIZ1 p.Met627Val
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Pro140Ala Uncertain significance Single submitter
-
CIZ1 p.Pro140Leu
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Pro168Leu
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Pro212Ala
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Pro232Leu
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Pro247Arg Uncertain significance Single submitter
-
CIZ1 p.Pro249Ser
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Pro274Ser Uncertain significance Single submitter
-
CIZ1 p.Pro300Thr
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Pro328Leu
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Pro465Leu
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Pro480Ser
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Pro570His
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Pro61Leu Uncertain significance Single submitter
-
CIZ1 p.Pro67Leu
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Pro888Arg
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Pro888Gln Uncertain significance Single submitter
- CIZ1 p.Ser189Phe Uncertain significance Single submitter
-
CIZ1 p.Ser264Gly
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Ser324Ala Uncertain significance Single submitter
-
CIZ1 p.Ser332Phe
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Ser442Asn
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Ser472Leu
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Ser577Phe
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Ser584Cys Uncertain significance Single submitter
-
CIZ1 p.Ser584Thr
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Ser718Leu Uncertain significance Single submitter
- CIZ1 p.Ser862Cys Uncertain significance Single submitter
-
CIZ1 p.Thr118Ile
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Thr138Ile
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Thr144Ala
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Thr269Ala
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Thr288Ala Uncertain significance Single submitter
-
CIZ1 p.Thr288Ser
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Thr437Ile Uncertain significance Single submitter
-
CIZ1 p.Thr479Ile
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Thr673Ser
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Thr781Ser
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Thr876Ala
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Thr881Met
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Thr894Ile Uncertain significance Single submitter
- CIZ1 p.Tyr799Cys Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
-
CIZ1 p.Gln390His
Benign/Likely benign
Multiple submitters
dystonic disorder
-
CIZ1 p.Gln410Glu
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Gln428Arg
Uncertain significance
Multiple submitters
dystonic disorder
-
CIZ1 p.Glu370Gly
Benign
Multiple submitters
dystonic disorder
-
CIZ1 p.Val419Met
Uncertain significance
Multiple submitters
dystonic disorder
- CIZ1 p.Ala855Thr Uncertain significance Single submitter
- CIZ1 p.Arg156Cys Uncertain significance Single submitter
-
CIZ1 p.Arg417Met
Likely benign
Single submitter
dystonic disorder
- CIZ1 p.Arg559Trp Uncertain significance Single submitter
-
CIZ1 p.Arg654His
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Arg698His Uncertain significance Single submitter
-
CIZ1 p.Arg892Cys
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Asp666Gly
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Asp675His
Uncertain significance
Single submitter
dystonia 23
-
CIZ1 p.Asp729Glu
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Gln14His Uncertain significance Single submitter
-
CIZ1 p.Gln31His
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Gln374His Uncertain significance Single submitter
- CIZ1 p.Gln380Arg Uncertain significance Single submitter
-
CIZ1 p.Gln392His
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Gln394Glu
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Glu741Lys Uncertain significance Single submitter
-
CIZ1 p.Glu751Lys
Uncertain significance
Single submitter
dystonic disorder
- CIZ1 p.Gly738Arg Uncertain significance Single submitter
- CIZ1 p.Ile732Thr Uncertain significance Single submitter
- CIZ1 p.Lys835Asn Uncertain significance Single submitter
- CIZ1 p.Phe608Leu Uncertain significance Single submitter
- CIZ1 p.Pro339Arg Uncertain significance Single submitter
- CIZ1 p.Pro371Ala Uncertain significance Single submitter
-
CIZ1 p.Pro377Ser
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Pro381Leu
Uncertain significance
Single submitter
dystonic disorder
-
CIZ1 p.Pro399Leu
Conflicting
Single submitter
dystonic disorder
- CIZ1 p.Ser136Arg Uncertain significance Single submitter
-
CIZ1 p.Ser628Arg
Conflicting
Single submitter
dystonic disorder
- CIZ1 p.Thr857Lys Uncertain significance Single submitter
- CIZ1 p.Val391Met Uncertain significance Single submitter
-
CIZ1 p.Val403Met
Conflicting
Single submitter
dystonic disorder
- CIZ1 p.Val737Met Uncertain significance Single submitter
- CIZ1 p.Val796Met Uncertain significance Single submitter
All CIZ1 variants
Conflicting classifications of pathogenicity 14
- p.Arg329Gln Single submitter dystonic disorder ⚠
- p.Arg883Gln Single submitter dystonic disorder ⚠
- p.Gln470Pro Single submitter dystonic disorder ⚠
- p.Gln869Glu Single submitter dystonic disorder ⚠
- p.Gln9dup Single submitter dystonic disorder
- p.Pro235Ser Single submitter dystonic disorder ⚠
- p.Pro283Leu Single submitter dystonic disorder ⚠
- p.Pro399Leu Single submitter dystonic disorder ⚠
- p.Pro61Ala Single submitter dystonic disorder ⚠
- p.Ser628Arg Single submitter dystonic disorder ⚠
- p.Thr645Arg Single submitter dystonic disorder ⚠
- p.Val279Met Single submitter dystonic disorder ⚠
- p.Val403Met Single submitter dystonic disorder ⚠
- p.Val689Ile Single submitter dystonic disorder ⚠
Benign 55
- c.1499-53G>A Multiple submitters
- c.1620+18T>C Multiple submitters dystonic disorder
- c.1621-24G>A Multiple submitters
- c.1621-79C>T Multiple submitters
- c.1818+20G>A Multiple submitters dystonic disorder
- c.1944-12_1944-11del Multiple submitters dystonic disorder
- c.2031+16C>T Multiple submitters dystonic disorder
- c.2031+17G>A Multiple submitters dystonic disorder
- c.2145+99G>T Multiple submitters
- c.2296-308T>A Multiple submitters
- c.2488-127G>A Multiple submitters
- c.286+200A>G Multiple submitters
- c.588+193A>G Multiple submitters
- c.682+28A>G Multiple submitters
- c.683-7A>G Multiple submitters dystonic disorder
- c.792-47G>C Multiple submitters
- p.Ala219Thr Multiple submitters dystonic disorder
- p.Ala345= Multiple submitters dystonic disorder
- p.Arg653= Multiple submitters dystonic disorder
- p.Asp641= Multiple submitters dystonic disorder
- p.Asp735= Multiple submitters dystonic disorder
- p.Glu236= Multiple submitters dystonic disorder
- p.Glu370Gly Multiple submitters dystonic disorder ⚠
- p.Leu132= Multiple submitters dystonic disorder
- p.Pro290= Multiple submitters dystonic disorder
- p.Pro409= Multiple submitters dystonic disorder
- p.Ser578Phe Multiple submitters dystonic disorder
- p.Val455= Multiple submitters dystonic disorder
- p.Val638Met Multiple submitters dystonic disorder
- c.171-14C>G Single submitter dystonic disorder
- c.171-15C>G Single submitter dystonic disorder
- c.1818+138T>A Single submitter
- c.1943+14C>T Single submitter dystonic disorder
- c.2295+263G>A Single submitter
- c.359-257A>G Single submitter
- c.682+13G>A Single submitter dystonic disorder
- c.682+18C>T Single submitter dystonic disorder
- c.682+84_682+96dup Single submitter
- c.683-17T>G Single submitter dystonic disorder
- c.791+19_791+20del Single submitter dystonic disorder
- c.791+253G>A Single submitter
- c.791+282A>G Single submitter
- c.792-12G>T Single submitter dystonic disorder
- c.792-13dup Single submitter dystonic disorder
- c.792-241A>G Single submitter
- c.-5-1505dup Single submitter
- c.-6+173C>T Single submitter
- p.Ala451Val Single submitter dystonic disorder
- p.Arg310Gln Single submitter dystonic disorder
- p.Leu400Pro Single submitter dystonic disorder
- p.Lys359Glu Single submitter dystonic disorder
- p.Pro232= Single submitter dystonic disorder
- p.Pro637= Single submitter dystonic disorder
- p.Ser472= Single submitter dystonic disorder
- p.Thr333= Single submitter dystonic disorder
Benign/Likely benign 9
- c.2145+13C>T Multiple submitters dystonic disorder
- p.Ala218= Multiple submitters dystonic disorder
- p.Arg847Gln Multiple submitters dystonic disorder
- p.Asn854= Multiple submitters dystonic disorder
- p.Gln390His Multiple submitters dystonic disorder ⚠
- p.Pro251= Multiple submitters dystonic disorder
- p.Pro399= Multiple submitters dystonic disorder
- p.Ser265= Multiple submitters dystonic disorder
- p.Thr192= Multiple submitters dystonic disorder
Likely benign 130
- c.1943+15G>A Multiple submitters dystonic disorder
- p.Ala219Ser Multiple submitters dystonic disorder
- p.Asn175= Multiple submitters dystonic disorder
- p.Asn851= Multiple submitters dystonic disorder
- p.Leu298= Multiple submitters dystonic disorder
- p.Pro283= Multiple submitters dystonic disorder
- p.Pro615= Multiple submitters dystonic disorder
- p.Pro795= Multiple submitters dystonic disorder
- p.Thr840= Multiple submitters dystonic disorder
- c.1499-17C>T Single submitter
- c.1499-20C>T Single submitter dystonic disorder
- c.1621-18T>C Single submitter dystonic disorder
- c.170+18G>C Single submitter dystonic disorder
- c.171-15C>T Single submitter dystonic disorder
- c.171-16C>T Single submitter dystonic disorder
- c.1818+15G>T Single submitter dystonic disorder
- c.1818+9dup Single submitter dystonic disorder
- c.1819-16T>C Single submitter dystonic disorder
- c.1944-20C>A Single submitter dystonic disorder
- c.2032-14C>T Single submitter dystonic disorder
- c.2146-14T>G Single submitter dystonic disorder
- c.2295+7G>C Single submitter dystonic disorder
- c.2296-10A>G Single submitter dystonic disorder
- c.2296-18A>G Single submitter dystonic disorder
- c.2365+10C>T Single submitter dystonic disorder
- c.2366-12C>T Single submitter dystonic disorder
- c.2366-5T>C Single submitter dystonic disorder
- c.2366-7C>T Single submitter dystonic disorder
- c.2487+8G>A Single submitter dystonic disorder
- c.2488-10C>T Single submitter dystonic disorder
- c.2488-16C>T Single submitter dystonic disorder
- c.286+16G>C Single submitter dystonic disorder
- c.287-18C>T Single submitter dystonic disorder
- c.287-6C>T Single submitter dystonic disorder
- c.358+10G>A Single submitter dystonic disorder
- c.358+15T>A Single submitter dystonic disorder
- c.358+16T>C Single submitter dystonic disorder
- c.358+17A>T Single submitter dystonic disorder
- c.588+10A>T Single submitter dystonic disorder
- c.588+15G>T Single submitter dystonic disorder
- c.588+9T>G Single submitter dystonic disorder
- c.682+3G>A Single submitter dystonic disorder
- c.682+3GAGG[4] Single submitter dystonic disorder
- c.683-16C>T Single submitter dystonic disorder
- c.683-18C>T Single submitter dystonic disorder
- c.683-20C>T Single submitter dystonic disorder
- c.791+8A>T Single submitter dystonic disorder
- c.-5-1506_-5-1505dup Single submitter
- c.-5-973G>A Single submitter
- p.Ala133= Single submitter dystonic disorder
- p.Ala15= Single submitter
- p.Ala239Thr Single submitter dystonic disorder
- p.Ala254= Single submitter dystonic disorder
- p.Ala451= Single submitter dystonic disorder
- p.Ala535= Single submitter dystonic disorder
- p.Ala630= Single submitter dystonic disorder
- p.Ala713= Single submitter dystonic disorder
- p.Arg314= Single submitter dystonic disorder
- p.Arg417Met Single submitter dystonic disorder ⚠
- p.Arg620= Single submitter dystonic disorder
- p.Arg865= Single submitter
- p.Asn811= Single submitter dystonic disorder
- p.Asp108= Single submitter dystonic disorder
- p.Asp334= Single submitter
- p.Cys486= Single submitter dystonic disorder
- p.Cys656= Single submitter dystonic disorder
- p.Cys848= Single submitter dystonic disorder
- p.Gln14= Single submitter dystonic disorder
- p.Gln153= Single submitter
- p.Gln282= Single submitter dystonic disorder
- p.Gln357= Single submitter dystonic disorder
- p.Gln464= Single submitter dystonic disorder
- p.Gln512= Single submitter dystonic disorder
- p.Gln681= Single submitter dystonic disorder
- p.Gln7= Single submitter dystonic disorder
- p.Gln873= Single submitter dystonic disorder
- p.Gln9= Single submitter dystonic disorder
- p.Gln99= Single submitter dystonic disorder
- p.Glu396= Single submitter
- p.Glu447= Single submitter dystonic disorder
- p.Glu644= Single submitter dystonic disorder
- p.Glu746= Single submitter dystonic disorder
- p.Gly510= Single submitter dystonic disorder
- p.Gly58= Single submitter dystonic disorder
- p.Gly665= Single submitter dystonic disorder
- p.His462= Single submitter dystonic disorder
- p.Ile756= Single submitter dystonic disorder
- p.Ile803Val Single submitter
- p.Leu17= Single submitter dystonic disorder
- p.Leu262= Single submitter dystonic disorder
- p.Leu393= Single submitter dystonic disorder
- p.Leu400Gln Single submitter dystonic disorder
- p.Leu566= Single submitter dystonic disorder
- p.Leu683= Single submitter dystonic disorder
- p.Leu822= Single submitter dystonic disorder
- p.Leu859= Single submitter dystonic disorder
- p.Lys830= Single submitter dystonic disorder
- p.Met515Val Single submitter
- p.Met53Val Single submitter
- p.Phe740= Single submitter dystonic disorder
- p.Pro181= Single submitter dystonic disorder
- p.Pro193= Single submitter dystonic disorder
- p.Pro268= Single submitter dystonic disorder
- p.Pro328= Single submitter dystonic disorder
- p.Pro433= Single submitter dystonic disorder
- p.Pro469= Single submitter dystonic disorder
- p.Pro50= Single submitter
- p.Pro884= Single submitter dystonic disorder
- p.Ser129= Single submitter dystonic disorder
- p.Ser255= Single submitter dystonic disorder
- p.Ser413= Single submitter dystonic disorder
- p.Ser442= Single submitter dystonic disorder
- p.Ser522= Single submitter dystonic disorder
- p.Ser578= Single submitter dystonic disorder
- p.Ser613= Single submitter dystonic disorder
- p.Ser706= Single submitter dystonic disorder
- p.Ser863= Single submitter dystonic disorder
- p.Thr326= Single submitter dystonic disorder
- p.Thr431= Single submitter dystonic disorder
- p.Thr511= Single submitter dystonic disorder
- p.Thr872= Single submitter dystonic disorder
- p.Thr881= Single submitter dystonic disorder
- p.Tyr831= Single submitter dystonic disorder
- p.Val318= Single submitter dystonic disorder
- p.Val407= Single submitter dystonic disorder
- p.Val453= Single submitter dystonic disorder
- p.Val481Ala Single submitter dystonic disorder
- p.Val541= Single submitter dystonic disorder
- p.Val576Ile Single submitter dystonic disorder
- p.Val315= No assertion criteria CIZ1-related disorder
Uncertain significance 230
- p.Ala128Ser Multiple submitters dystonic disorder ⚠
- p.Ala345Val Multiple submitters dystonic disorder ⚠
- p.Ala523Ser Multiple submitters dystonic disorder ⚠
- p.Ala833Gly Multiple submitters dystonic disorder ⚠
- p.Arg286Gln Multiple submitters dystonic disorder ⚠
- p.Arg571His Multiple submitters dystonic disorder ⚠
- p.Arg640Gln Multiple submitters dystonic disorder ⚠
- p.Arg865His Multiple submitters dystonic disorder ⚠
- p.Asn180Lys Multiple submitters dystonic disorder ⚠
- p.Asp207Asn Multiple submitters dystonic disorder ⚠
- p.Gln358His Multiple submitters dystonic disorder ⚠
- p.Gln410Glu Multiple submitters dystonic disorder ⚠
- p.Gln426Pro Multiple submitters dystonic disorder ⚠
- p.Gln428Arg Multiple submitters dystonic disorder ⚠
- p.Gln464His Multiple submitters dystonic disorder ⚠
- p.Gln478Leu Multiple submitters dystonic disorder ⚠
- p.Gln9_Gln16del Multiple submitters dystonic disorder
- p.Glu774Asp Multiple submitters dystonic disorder ⚠
- p.Gly525Ala Multiple submitters dystonic disorder ⚠
- p.Gly529Glu Multiple submitters dystonic disorder ⚠
- p.Gly742Asp Multiple submitters dystonic disorder ⚠
- p.Ile238Val Multiple submitters dystonic disorder ⚠
- p.Ile678Thr Multiple submitters dystonic disorder ⚠
- p.Ile756Met Multiple submitters dystonic disorder ⚠
- p.Leu896Pro Multiple submitters dystonic disorder ⚠
- p.Pro290Leu Multiple submitters dystonic disorder ⚠
- p.Pro450Ser Multiple submitters dystonic disorder ⚠
- p.Pro469Leu Multiple submitters dystonic disorder ⚠
- p.Pro570Ser Multiple submitters dystonic disorder ⚠
- p.Ser772Pro Multiple submitters dystonic disorder ⚠
- p.Ser779Leu Multiple submitters dystonic disorder ⚠
- p.Thr579Ala Multiple submitters dystonic disorder ⚠
- p.Val167Ile Multiple submitters dystonic disorder ⚠
- p.Val419Met Multiple submitters dystonic disorder ⚠
- p.Val443Ile Multiple submitters dystonic disorder ⚠
- p.Val642Ile Multiple submitters dystonic disorder ⚠
- c.1498+1G>T Single submitter dystonic disorder
- c.2031+1G>C Single submitter dystonic disorder
- c.2295+6G>A Single submitter dystonic disorder
- c.2296-11C>T Single submitter dystonic disorder
- c.2296-3C>T Single submitter dystonic disorder
- c.286+6G>T Single submitter dystonic disorder
- c.358+8A>G Single submitter dystonic disorder
- c.682+5G>A Single submitter dystonic disorder
- c.682+5G>C Single submitter dystonic disorder
- p.21QQQQL[2] Single submitter dystonic disorder
- p.403VQPQ[1] Single submitter dystonic disorder
- p.6QQQQLQQ[1] Single submitter dystonic disorder
- p.Ala133Val Single submitter ⚠
- p.Ala219Val Single submitter ⚠
- p.Ala302Thr Single submitter ⚠
- p.Ala475Val Single submitter dystonic disorder ⚠
- p.Ala544del Single submitter dystonic disorder
- p.Ala581Val Single submitter dystonic disorder ⚠
- p.Ala833Val Single submitter ⚠
- p.Ala855Ser Single submitter dystonic disorder ⚠
- p.Ala855Thr Single submitter ⚠
- p.Ala858Val Single submitter dystonic disorder ⚠
- p.Arg123Gln Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg156His Single submitter
- p.Arg179Gln Single submitter dystonic disorder ⚠
- p.Arg179Trp Single submitter dystonic disorder ⚠
- p.Arg186Trp Single submitter dystonic disorder ⚠
- p.Arg195Ter Single submitter
- p.Arg222Gly Single submitter dystonic disorder ⚠
- p.Arg243His Single submitter dystonic disorder ⚠
- p.Arg25Gln Single submitter
- p.Arg263Lys Single submitter dystonic disorder ⚠
- p.Arg310Gly Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Arg314Trp Single submitter ⚠
- p.Arg329Trp Single submitter dystonic disorder ⚠
- p.Arg389Ser Single submitter dystonic disorder ⚠
- p.Arg559Trp Single submitter ⚠
- p.Arg571Cys Single submitter dystonic disorder ⚠
- p.Arg620Gln Single submitter dystonic disorder ⚠
- p.Arg640Trp Single submitter dystonic disorder
- p.Arg654His Single submitter dystonic disorder ⚠
- p.Arg698His Single submitter ⚠
- p.Arg847Trp Single submitter dystonic disorder ⚠
- p.Arg892Cys Single submitter dystonic disorder ⚠
- p.Asn121Ile Single submitter
- p.Asn175Ser Single submitter ⚠
- p.Asn520Ile Single submitter ⚠
- p.Asp666Gly Single submitter dystonic disorder ⚠
- p.Asp675His Single submitter dystonia 23 ⚠
- p.Asp729Glu Single submitter dystonic disorder ⚠
- p.Asp749Val Single submitter dystonic disorder ⚠
- p.Asp752Gly Single submitter dystonic disorder ⚠
- p.Gln12_Gln13insLeu Single submitter dystonic disorder
- p.Gln14His Single submitter ⚠
- p.Gln15_Gln29dup Single submitter dystonic disorder
- p.Gln15_Gln34del Single submitter dystonic disorder
- p.Gln182His Single submitter ⚠
- p.Gln276Arg Single submitter dystonic disorder ⚠
- p.Gln312Pro Single submitter ⚠
- p.Gln317Glu Single submitter ⚠
- p.Gln319Lys Single submitter ⚠
- p.Gln31His Single submitter dystonic disorder ⚠
- p.Gln321Arg Single submitter dystonic disorder ⚠
- p.Gln360Arg Single submitter ⚠
- p.Gln374His Single submitter ⚠
- p.Gln380Arg Single submitter ⚠
- p.Gln392His Single submitter dystonic disorder ⚠
- p.Gln394Glu Single submitter dystonic disorder ⚠
- p.Gln408His Single submitter dystonic disorder ⚠
- p.Gln422Lys Single submitter dystonic disorder ⚠
- p.Gln43_Gln44insLeuGlnGlnLeuLeuGln Single submitter dystonic disorder
- p.Gln62Ter Single submitter dystonic disorder
- p.Gln65Leu Single submitter ⚠
- p.Gln7Leu Single submitter ⚠
- p.Gln8_Gln16del Single submitter dystonic disorder
- p.Gln9del Single submitter dystonic disorder
- p.Glu213Asp Single submitter dystonic disorder ⚠
- p.Glu227del Single submitter dystonic disorder
- p.Glu256Asp Single submitter ⚠
- p.Glu272Ala Single submitter ⚠
- p.Glu301Gly Single submitter ⚠
- p.Glu530Lys Single submitter dystonic disorder ⚠
- p.Glu537Asp Single submitter dystonic disorder ⚠
- p.Glu644Lys Single submitter dystonic disorder ⚠
- p.Glu741Lys Single submitter ⚠
- p.Glu748del Single submitter dystonic disorder
- p.Glu751Lys Single submitter dystonic disorder ⚠
- p.Glu757Lys Single submitter dystonic disorder ⚠
- p.Glu760Asp Single submitter dystonic disorder ⚠
- p.Glu761Lys Single submitter dystonic disorder ⚠
- p.Gly131Val Single submitter ⚠
- p.Gly214Glu Single submitter ⚠
- p.Gly275Arg Single submitter dystonic disorder ⚠
- p.Gly545= Single submitter dystonic disorder
- p.Gly545Arg Single submitter dystonic disorder ⚠
- p.Gly58Val Single submitter dystonic disorder ⚠
- p.Gly622Glu Single submitter dystonic disorder ⚠
- p.Gly738Arg Single submitter ⚠
- p.Gly778Ala Single submitter dystonic disorder ⚠
- p.Gly778Asp Single submitter dystonic disorder ⚠
- p.Gly798Ser Single submitter dystonic disorder ⚠
- p.Gly82Ser Single submitter ⚠
- p.His412Gln Single submitter ⚠
- p.Ile732Thr Single submitter ⚠
- p.Ile800Met Single submitter dystonic disorder ⚠
- p.Leu122Phe Single submitter dystonic disorder ⚠
- p.Leu132Val Single submitter dystonic disorder ⚠
- p.Leu20_Gln27del Single submitter dystonic disorder
- p.Leu20_Gln27dup Single submitter dystonic disorder
- p.Leu25_Gln31dup Single submitter dystonic disorder
- p.Leu257Gln Single submitter dystonic disorder ⚠
- p.Leu365_Gln378del Single submitter dystonic disorder
- p.Leu393_Gln394dup Single submitter dystonic disorder
- p.Leu421_Gln422insGluProLeuLysGlnValGlnProGlnValGlnProGlnAlaHisSerGlnProProArgGlnValGlnLeu Single submitter dystonic disorder
- p.Leu80Phe Single submitter dystonic disorder ⚠
- p.Lys208Gln Single submitter ⚠
- p.Lys271Glu Single submitter ⚠
- p.Lys373Thr Single submitter dystonic disorder ⚠
- p.Lys777Glu Single submitter ⚠
- p.Lys835Asn Single submitter ⚠
- p.Lys875Arg Single submitter dystonic disorder ⚠
- p.Lys879Arg Single submitter dystonic disorder ⚠
- p.Met127Val Single submitter ⚠
- p.Met169Val Single submitter dystonic disorder ⚠
- p.Met287Ile Single submitter dystonic disorder ⚠
- p.Met287Thr Single submitter ⚠
- p.Met490Ile Single submitter ⚠
- p.Met627Val Single submitter dystonic disorder ⚠
- p.Phe608Leu Single submitter ⚠
- p.Pro140Ala Single submitter ⚠
- p.Pro140Leu Single submitter dystonic disorder ⚠
- p.Pro168Leu Single submitter dystonic disorder ⚠
- p.Pro212Ala Single submitter dystonic disorder ⚠
- p.Pro232Leu Single submitter dystonic disorder ⚠
- p.Pro247Arg Single submitter ⚠
- p.Pro249Ser Single submitter dystonic disorder ⚠
- p.Pro274Ser Single submitter ⚠
- p.Pro300Thr Single submitter dystonic disorder ⚠
- p.Pro328Leu Single submitter dystonic disorder ⚠
- p.Pro339Arg Single submitter ⚠
- p.Pro371Ala Single submitter ⚠
- p.Pro377Ser Single submitter dystonic disorder ⚠
- p.Pro381Leu Single submitter dystonic disorder ⚠
- p.Pro465Leu Single submitter dystonic disorder ⚠
- p.Pro480Ser Single submitter dystonic disorder ⚠
- p.Pro570His Single submitter dystonic disorder ⚠
- p.Pro61Leu Single submitter ⚠
- p.Pro67Leu Single submitter dystonic disorder ⚠
- p.Pro888Arg Single submitter dystonic disorder ⚠
- p.Pro888Gln Single submitter ⚠
- p.Ser136Arg Single submitter ⚠
- p.Ser189Phe Single submitter ⚠
- p.Ser264Gly Single submitter dystonic disorder ⚠
- p.Ser324Ala Single submitter ⚠
- p.Ser332Phe Single submitter dystonic disorder ⚠
- p.Ser442Asn Single submitter dystonic disorder ⚠
- p.Ser472Leu Single submitter dystonic disorder ⚠
- p.Ser514= Single submitter dystonic disorder
- p.Ser577Phe Single submitter dystonic disorder ⚠
- p.Ser584Cys Single submitter ⚠
- p.Ser584Thr Single submitter dystonic disorder ⚠
- p.Ser718Leu Single submitter ⚠
- p.Ser779= Single submitter dystonic disorder
- p.Ser862Cys Single submitter ⚠
- p.Ter899Trp Single submitter
- p.Thr118Ile Single submitter dystonic disorder ⚠
- p.Thr138Ile Single submitter dystonic disorder ⚠
- p.Thr144Ala Single submitter dystonic disorder ⚠
- p.Thr269Ala Single submitter dystonic disorder ⚠
- p.Thr288Ala Single submitter ⚠
- p.Thr288Ser Single submitter dystonic disorder ⚠
- p.Thr437Ile Single submitter ⚠
- p.Thr479Ile Single submitter dystonic disorder ⚠
- p.Thr673Ser Single submitter dystonic disorder ⚠
- p.Thr781Ser Single submitter dystonic disorder ⚠
- p.Thr857Lys Single submitter ⚠
- p.Thr876Ala Single submitter dystonic disorder ⚠
- p.Thr881Met Single submitter dystonic disorder ⚠
- p.Thr894Ile Single submitter ⚠
- p.Tyr799Cys Single submitter ⚠
- p.Val315Ile Single submitter ⚠
- p.Val355Met Single submitter dystonic disorder ⚠
- p.Val361Leu Single submitter dystonic disorder ⚠
- p.Val391Met Single submitter ⚠
- p.Val419_Gln420insGluLeu Single submitter dystonic disorder
- p.Val455Ala Single submitter dystonic disorder ⚠
- p.Val481Phe Single submitter dystonic disorder ⚠
- p.Val482Leu Single submitter dystonic disorder ⚠
- p.Val495Ile Single submitter dystonic disorder ⚠
- p.Val564Ala Single submitter ⚠
- p.Val737Met Single submitter ⚠
- p.Val796Met Single submitter ⚠