ATCAY — 219 ClinVar variants
All ClinVar germline ATCAY variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
4 Pathogenic · 7 Conflicting · 30 Benign · 6 Benign/Likely benign · 27 Likely benign · 145 Uncertain significance
Full ATCAY gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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ATCAY p.Gly33Glu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ATCAY p.Ala148Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATCAY p.Ala125Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Ala127Thr
Uncertain significance
Single submitter
Cayman type cerebellar ataxia
-
ATCAY p.Ala127Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Ala149Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Ala190Thr
Uncertain significance
Single submitter
Cayman type cerebellar ataxia
-
ATCAY p.Ala56Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Arg155Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Arg241Trp
Uncertain significance
Single submitter
Cayman type cerebellar ataxia
-
ATCAY p.Arg259Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Arg262Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Arg278Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Arg331Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Asn150Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Asp133Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Cys253Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Gln20Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ATCAY p.Glu144Gln Uncertain significance Single submitter
-
ATCAY p.Glu186Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Glu324Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Glu324Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Glu42Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Glu67Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ATCAY p.Gly132Arg Uncertain significance Single submitter
-
ATCAY p.Gly141Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Gly160Arg
Uncertain significance
Single submitter
Cayman type cerebellar ataxia
-
ATCAY p.Gly181Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Gly187Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Gly237Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Gly33Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Gly77Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.His300Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Leu51Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Phe287Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Pro286Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Pro354Ser
Uncertain significance
Single submitter
Cayman type cerebellar ataxia
-
ATCAY p.Pro40Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ATCAY p.Thr32Met Uncertain significance Single submitter
-
ATCAY p.Val13Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Val178Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Val218Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 27
The independent predictors disagree with each other — read with care.
-
ATCAY p.Val124Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATCAY p.Ala195Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Asp121Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Asp140Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Asp206Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Asp318Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Asp73Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Glu348Gly
Uncertain significance
Single submitter
Cayman type cerebellar ataxia
-
ATCAY p.Glu99Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Gly141Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Gly151Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Gly248Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Ile166Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Ile191Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Leu224Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Leu235Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Met231Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Pro205Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Pro339Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ATCAY p.Ser301Arg Pathogenic Single submitter
-
ATCAY p.Thr126Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Thr4Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Val178Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Val193Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Val271Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Val290Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATCAY p.Val95Met
Uncertain significance
Single submitter
Cayman type cerebellar ataxia
All ATCAY variants
Pathogenic 4
- c.965+3G>T Single submitter
- p.Glu186Ter Single submitter Cayman type cerebellar ataxia
- p.Ser301Arg Single submitter ⚠
- p.Asp201fs No assertion criteria Cayman type cerebellar ataxia
Conflicting classifications of pathogenicity 7
- c.1106+10A>T Single submitter Cayman type cerebellar ataxia
- p.Ala135= Single submitter Cayman type cerebellar ataxia
- p.Asn12= Single submitter Cayman type cerebellar ataxia
- p.Asn54= Single submitter Cayman type cerebellar ataxia
- p.Glu351= Single submitter Cayman type cerebellar ataxia
- p.Gly33Glu Single submitter Inborn genetic diseases ⚠
- p.Thr239= Single submitter Cayman type cerebellar ataxia
Benign 30
- c.1074-14T>C Multiple submitters Cayman type cerebellar ataxia
- c.545-65T>C Multiple submitters Cayman type cerebellar ataxia
- c.866+6A>G Multiple submitters Cayman type cerebellar ataxia
- c.-390A>G Multiple submitters Cayman type cerebellar ataxia
- c.*1190G>A Multiple submitters Cayman type cerebellar ataxia
- c.*1423T>A Multiple submitters Cayman type cerebellar ataxia
- c.*1653G>T Multiple submitters Cayman type cerebellar ataxia
- c.*2586A>G Multiple submitters Cayman type cerebellar ataxia
- c.*3181G>A Multiple submitters Cayman type cerebellar ataxia
- c.*7G>A Multiple submitters Cayman type cerebellar ataxia
- c.*823C>T Multiple submitters Cayman type cerebellar ataxia
- p.Ile270= Multiple submitters Cayman type cerebellar ataxia
- c.544+16dup Single submitter
- c.647+17G>A Single submitter
- c.-241C>T Single submitter Cayman type cerebellar ataxia
- c.*1036G>C Single submitter Cayman type cerebellar ataxia
- c.*1180C>T Single submitter Cayman type cerebellar ataxia
- c.*1235T>C Single submitter Cayman type cerebellar ataxia
- c.*1540C>A Single submitter Cayman type cerebellar ataxia
- c.*1542C>T Single submitter Cayman type cerebellar ataxia
- c.*1586T>C Single submitter Cayman type cerebellar ataxia
- c.*2026G>A Single submitter Cayman type cerebellar ataxia
- c.*2394C>T Single submitter Cayman type cerebellar ataxia
- c.*2497C>T Single submitter Cayman type cerebellar ataxia
- c.*2514A>G Single submitter Cayman type cerebellar ataxia
- c.*3154C>T Single submitter Cayman type cerebellar ataxia
- c.*486A>C Single submitter Cayman type cerebellar ataxia
- c.*507G>C Single submitter Cayman type cerebellar ataxia
- c.*806A>G Single submitter Cayman type cerebellar ataxia
- c.*976C>G Single submitter Cayman type cerebellar ataxia
Benign/Likely benign 6
- c.545-8C>T Multiple submitters Cayman type cerebellar ataxia
- c.647+10C>T Multiple submitters Cayman type cerebellar ataxia
- c.866+7C>T Multiple submitters Cayman type cerebellar ataxia
- c.*441G>C Multiple submitters Cayman type cerebellar ataxia
- p.Pro205= Multiple submitters Cayman type cerebellar ataxia
- p.Thr142= Multiple submitters Cayman type cerebellar ataxia
Likely benign 27
- c.137-11T>C Multiple submitters Cayman type cerebellar ataxia
- c.866+10G>A Multiple submitters
- c.965+10C>A Multiple submitters
- c.*2692G>A Multiple submitters Cayman type cerebellar ataxia
- c.*3108C>T Multiple submitters Cayman type cerebellar ataxia
- p.Ser274= Multiple submitters
- p.Thr143= Multiple submitters
- c.648-6G>C Single submitter
- c.648-9C>T Single submitter
- c.866+8G>A Single submitter
- c.-398C>A Single submitter Cayman type cerebellar ataxia
- c.*26T>C Single submitter Cayman type cerebellar ataxia
- c.*309C>T Single submitter Cayman type cerebellar ataxia
- c.*313G>A Single submitter Cayman type cerebellar ataxia
- c.*3376C>T Single submitter Cayman type cerebellar ataxia
- c.*3C>T Single submitter
- c.*758C>T Single submitter Cayman type cerebellar ataxia
- c.*871T>G Single submitter Cayman type cerebellar ataxia
- p.Asn94= Single submitter
- p.Asp120= Single submitter
- p.Glu67= Single submitter
- p.Gly248= Single submitter
- p.Leu137= Single submitter
- p.Pro339= Single submitter
- p.Thr32= Single submitter
- p.Tyr184= Single submitter
- p.Ala335= No assertion criteria ATCAY-related disorder
Uncertain significance 145
- c.*3332C>A Multiple submitters Cayman type cerebellar ataxia
- p.Ala148Thr Multiple submitters Inborn genetic diseases ⚠
- p.Val124Met Multiple submitters Inborn genetic diseases ⚠
- c.1106+5G>A Single submitter
- c.359-14C>T Single submitter Cayman type cerebellar ataxia
- c.647+14C>T Single submitter Cayman type cerebellar ataxia
- c.647+15G>A Single submitter Cayman type cerebellar ataxia
- c.647+15G>C Single submitter Cayman type cerebellar ataxia
- c.-170C>A Single submitter Cayman type cerebellar ataxia
- c.-176C>T Single submitter Cayman type cerebellar ataxia
- c.-198C>G Single submitter Cayman type cerebellar ataxia
- c.-41-1022G>A Single submitter Cayman type cerebellar ataxia
- c.-41-13G>A Single submitter Cayman type cerebellar ataxia
- c.*1051T>C Single submitter Cayman type cerebellar ataxia
- c.*1154G>A Single submitter Cayman type cerebellar ataxia
- c.*1167G>A Single submitter Cayman type cerebellar ataxia
- c.*1181G>A Single submitter Cayman type cerebellar ataxia
- c.*1188G>T Single submitter Cayman type cerebellar ataxia
- c.*1193T>A Single submitter Cayman type cerebellar ataxia
- c.*1217A>C Single submitter Cayman type cerebellar ataxia
- c.*1276G>A Single submitter Cayman type cerebellar ataxia
- c.*1322T>G Single submitter Cayman type cerebellar ataxia
- c.*1409T>C Single submitter Cayman type cerebellar ataxia
- c.*1427A>T Single submitter Cayman type cerebellar ataxia
- c.*143G>A Single submitter Cayman type cerebellar ataxia
- c.*1535G>A Single submitter Cayman type cerebellar ataxia
- c.*1632T>C Single submitter Cayman type cerebellar ataxia
- c.*1660T>G Single submitter Cayman type cerebellar ataxia
- c.*1761C>T Single submitter Cayman type cerebellar ataxia
- c.*1801T>C Single submitter Cayman type cerebellar ataxia
- c.*1978G>A Single submitter Cayman type cerebellar ataxia
- c.*212C>T Single submitter Cayman type cerebellar ataxia
- c.*2265G>A Single submitter Cayman type cerebellar ataxia
- c.*2282C>T Single submitter Cayman type cerebellar ataxia
- c.*2289C>T Single submitter Cayman type cerebellar ataxia
- c.*2297C>A Single submitter Cayman type cerebellar ataxia
- c.*2311G>A Single submitter Cayman type cerebellar ataxia
- c.*2356C>T Single submitter Cayman type cerebellar ataxia
- c.*2357G>C Single submitter Cayman type cerebellar ataxia
- c.*2395G>A Single submitter Cayman type cerebellar ataxia
- c.*2426C>T Single submitter Cayman type cerebellar ataxia
- c.*2668G>A Single submitter Cayman type cerebellar ataxia
- c.*266C>T Single submitter Cayman type cerebellar ataxia
- c.*2742C>T Single submitter Cayman type cerebellar ataxia
- c.*2996G>A Single submitter Cayman type cerebellar ataxia
- c.*3018C>T Single submitter Cayman type cerebellar ataxia
- c.*3124C>T Single submitter Cayman type cerebellar ataxia
- c.*3136A>T Single submitter Cayman type cerebellar ataxia
- c.*3202G>A Single submitter Cayman type cerebellar ataxia
- c.*3203G>A Single submitter Cayman type cerebellar ataxia
- c.*3319C>T Single submitter Cayman type cerebellar ataxia
- c.*3377G>A Single submitter Cayman type cerebellar ataxia
- c.*3404C>T Single submitter Cayman type cerebellar ataxia
- c.*3415G>A Single submitter Cayman type cerebellar ataxia
- c.*391C>A Single submitter Cayman type cerebellar ataxia
- c.*391C>T Single submitter Cayman type cerebellar ataxia
- c.*420C>T Single submitter Cayman type cerebellar ataxia
- c.*430G>T Single submitter Cayman type cerebellar ataxia
- c.*441G>A Single submitter Cayman type cerebellar ataxia
- c.*496C>A Single submitter Cayman type cerebellar ataxia
- c.*512G>A Single submitter Cayman type cerebellar ataxia
- c.*599T>C Single submitter Cayman type cerebellar ataxia
- c.*608G>C Single submitter Cayman type cerebellar ataxia
- c.*612C>T Single submitter Cayman type cerebellar ataxia
- c.*681A>G Single submitter Cayman type cerebellar ataxia
- c.*687C>A Single submitter Cayman type cerebellar ataxia
- c.*728T>C Single submitter Cayman type cerebellar ataxia
- c.*740G>A Single submitter Cayman type cerebellar ataxia
- c.*813G>C Single submitter Cayman type cerebellar ataxia
- c.*838G>A Single submitter Cayman type cerebellar ataxia
- c.*929G>A Single submitter Cayman type cerebellar ataxia
- c.*939G>A Single submitter Cayman type cerebellar ataxia
- c.*958G>A Single submitter Cayman type cerebellar ataxia
- p.Ala125Val Single submitter Inborn genetic diseases ⚠
- p.Ala127Thr Single submitter Cayman type cerebellar ataxia ⚠
- p.Ala127Val Single submitter Inborn genetic diseases ⚠
- p.Ala149Thr Single submitter Inborn genetic diseases ⚠
- p.Ala190Thr Single submitter Cayman type cerebellar ataxia ⚠
- p.Ala195Thr Single submitter Inborn genetic diseases ⚠
- p.Ala56Val Single submitter Inborn genetic diseases ⚠
- p.Arg155Gln Single submitter Inborn genetic diseases ⚠
- p.Arg241Trp Single submitter Cayman type cerebellar ataxia ⚠
- p.Arg259Gln Single submitter Inborn genetic diseases ⚠
- p.Arg262Gln Single submitter Inborn genetic diseases ⚠
- p.Arg278Trp Single submitter Inborn genetic diseases ⚠
- p.Arg331Lys Single submitter Inborn genetic diseases ⚠
- p.Asn150Ser Single submitter Inborn genetic diseases ⚠
- p.Asp121Asn Single submitter Inborn genetic diseases ⚠
- p.Asp133Asn Single submitter Inborn genetic diseases ⚠
- p.Asp140= Single submitter Cayman type cerebellar ataxia
- p.Asp140Asn Single submitter Inborn genetic diseases ⚠
- p.Asp206Asn Single submitter Inborn genetic diseases ⚠
- p.Asp318Asn Single submitter Inborn genetic diseases ⚠
- p.Asp73Asn Single submitter Inborn genetic diseases ⚠
- p.Cys253Ser Single submitter Inborn genetic diseases ⚠
- p.Cys319= Single submitter Cayman type cerebellar ataxia
- p.Gln20Leu Single submitter Inborn genetic diseases ⚠
- p.Glu144Gln Single submitter ⚠
- p.Glu186Lys Single submitter Inborn genetic diseases ⚠
- p.Glu324Gly Single submitter Inborn genetic diseases ⚠
- p.Glu324Lys Single submitter Inborn genetic diseases ⚠
- p.Glu348Gly Single submitter Cayman type cerebellar ataxia ⚠
- p.Glu42Gly Single submitter Inborn genetic diseases ⚠
- p.Glu67Gln Single submitter Inborn genetic diseases ⚠
- p.Glu99Lys Single submitter Inborn genetic diseases ⚠
- p.Gly132Arg Single submitter ⚠
- p.Gly141Arg Single submitter Inborn genetic diseases ⚠
- p.Gly141Ser Single submitter Inborn genetic diseases ⚠
- p.Gly151Arg Single submitter Inborn genetic diseases ⚠
- p.Gly160Arg Single submitter Cayman type cerebellar ataxia ⚠
- p.Gly181Arg Single submitter Inborn genetic diseases ⚠
- p.Gly185= Single submitter Cayman type cerebellar ataxia
- p.Gly187Ala Single submitter Inborn genetic diseases ⚠
- p.Gly237Ser Single submitter Inborn genetic diseases ⚠
- p.Gly248Ser Single submitter Inborn genetic diseases ⚠
- p.Gly33Arg Single submitter Inborn genetic diseases ⚠
- p.Gly77Ala Single submitter Inborn genetic diseases ⚠
- p.His300Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile166Val Single submitter Inborn genetic diseases ⚠
- p.Ile191Val Single submitter Inborn genetic diseases ⚠
- p.Leu224Ile Single submitter Inborn genetic diseases ⚠
- p.Leu235= Single submitter
- p.Leu235Met Single submitter Inborn genetic diseases ⚠
- p.Leu51Pro Single submitter Inborn genetic diseases ⚠
- p.Met231Thr Single submitter Inborn genetic diseases ⚠
- p.Phe287Val Single submitter Inborn genetic diseases ⚠
- p.Pro205Ser Single submitter Inborn genetic diseases ⚠
- p.Pro286Ala Single submitter Inborn genetic diseases ⚠
- p.Pro339Leu Single submitter Inborn genetic diseases ⚠
- p.Pro354Ser Single submitter Cayman type cerebellar ataxia ⚠
- p.Pro40Leu Single submitter Inborn genetic diseases ⚠
- p.Ser134= Single submitter Cayman type cerebellar ataxia
- p.Ser334= Single submitter Cayman type cerebellar ataxia
- p.Thr126Ile Single submitter Inborn genetic diseases ⚠
- p.Thr32Met Single submitter ⚠
- p.Thr4Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr184Ter Single submitter Cayman type cerebellar ataxia
- p.Val13Leu Single submitter Inborn genetic diseases ⚠
- p.Val178Ala Single submitter Inborn genetic diseases ⚠
- p.Val178Ile Single submitter Inborn genetic diseases ⚠
- p.Val193Ile Single submitter Inborn genetic diseases ⚠
- p.Val218Ala Single submitter Inborn genetic diseases ⚠
- p.Val271Ile Single submitter Inborn genetic diseases ⚠
- p.Val290Ile Single submitter Inborn genetic diseases ⚠
- p.Val95Met Single submitter Cayman type cerebellar ataxia ⚠