ANKS1B — 128 ClinVar variants

All ClinVar germline ANKS1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →

1 Likely pathogenic · 1 Conflicting · 9 Benign · 14 Likely benign · 103 Uncertain significance

Full ANKS1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 93

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.

ANKS1B p.Ser765Gly Conflicting Single submitter

Predictors lean, ClinVar uncertain 74

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 18

The independent predictors disagree with each other — read with care.

All ANKS1B variants

Likely pathogenic 1

c.3441+2T>C Single submitter

Conflicting classifications of pathogenicity 1

p.Ser765Gly Single submitter ⚠

Benign 9

c.1757-10C>T Multiple submitters
p.Arg157= Multiple submitters
p.Gly2= Multiple submitters
p.Val288Met Multiple submitters
p.Val389Ala Multiple submitters
c.1272+6673C>T Single submitter
c.2420-59C>T Single submitter
p.Gly823= Single submitter
p.Gly92= Single submitter

Likely benign 14

p.Leu681= Multiple submitters
c.1439-8A>G Single submitter
p.Ala17Val Single submitter
p.Ala67= Single submitter
p.Arg590Gln Single submitter
p.Asn551Ser Single submitter
p.Asn748Asp Single submitter
p.Gly1275Ser Single submitter
p.Lys634Glu Single submitter
p.Ser380= Single submitter
p.Ser860= Single submitter
p.Thr292Ala Single submitter
p.Thr398= Single submitter
p.Thr463= Single submitter

Uncertain significance 103

p.Gly501Asp Multiple submitters ⚠
c.3442-2A>G Single submitter
p.Ala1066Thr Single submitter ⚠
p.Ala183Glu Single submitter ⚠
p.Ala606Gly Single submitter ⚠
p.Ala725Gly Single submitter ⚠
p.Arg1000Trp Single submitter ⚠
p.Arg1156His Single submitter ⚠
p.Arg120Gly Single submitter ⚠
p.Arg243Gln Single submitter ⚠
p.Arg697Trp Single submitter ⚠
p.Arg712Thr Single submitter ⚠
p.Arg753Gly Single submitter ⚠
p.Arg946Lys Single submitter
p.Asn1006Ser Single submitter ⚠
p.Asn383His Single submitter ⚠
p.Asn432Ser Single submitter ⚠
p.Asn450Asp Single submitter ⚠
p.Asn705Thr Single submitter ⚠
p.Asn845Ser Single submitter ⚠
p.Asp480Gly Single submitter ⚠
p.Asp700Asn Single submitter ⚠
p.Asp728His Single submitter ⚠
p.Asp741Asn Single submitter ⚠
p.Asp791Glu Single submitter ⚠
p.Asp894Asn Single submitter ⚠
p.Asp900Asn Single submitter ⚠
p.Asp949Asn Single submitter ⚠
p.Gln631Lys Single submitter ⚠
p.Gln701Arg Single submitter ⚠
p.Glu286Gln Single submitter ⚠
p.Glu286Gly Single submitter ⚠
p.Glu322Ala Single submitter ⚠
p.Glu322Asp Single submitter ⚠
p.Glu391Val Single submitter ⚠
p.Glu425Gly Single submitter ⚠
p.Glu484Asp Single submitter ⚠
p.Glu682Lys Single submitter ⚠
p.Glu711Lys Single submitter ⚠
p.Glu763Gly Single submitter ⚠
p.Gly103Arg Single submitter ⚠
p.Gly627Arg Single submitter ⚠
p.Gly688Asp Single submitter ⚠
p.Gly695Ala Single submitter ⚠
p.Gly768Ala Single submitter ⚠
p.Gly816Arg Single submitter
p.His610Arg Single submitter ⚠
p.His624Arg Single submitter ⚠
p.His675Leu Single submitter ⚠
p.His684Asn Single submitter ⚠
p.Ile1149Val Single submitter ⚠
p.Ile156Val Single submitter ⚠
p.Ile653Thr Single submitter ⚠
p.Ile822Thr Single submitter
p.Ile866Met Single submitter ⚠
p.Ile925Thr Single submitter ⚠
p.Ile994Ser Single submitter ⚠
p.Ile994Val Single submitter ⚠
p.Leu348Phe Single submitter ⚠
p.Leu660Val Single submitter ⚠
p.Leu722Ser Single submitter ⚠
p.Lys429Met Single submitter ⚠
p.Lys465Thr Single submitter ⚠
p.Lys875Met Single submitter ⚠
p.Lys918Gln Single submitter ⚠
p.Met1095Val Single submitter
p.Met458Ile Single submitter ⚠
p.Met729Thr Single submitter ⚠
p.Met832Arg Single submitter
p.Pro1241Ala Single submitter ⚠
p.Pro410Leu Single submitter ⚠
p.Pro563Ala Single submitter ⚠
p.Pro567Leu Single submitter ⚠
p.Pro596Leu Single submitter ⚠
p.Pro597Arg Single submitter ⚠
p.Pro970Ser Single submitter ⚠
p.Ser1120Pro Single submitter
p.Ser1235Cys Single submitter ⚠
p.Ser344Leu Single submitter ⚠
p.Ser571Phe Single submitter ⚠
p.Ser644Gly Single submitter ⚠
p.Ser678Asn Single submitter ⚠
p.Ser678fs Single submitter ANKS1B-related disorder
p.Ser694Thr Single submitter ⚠
p.Ser759Phe Single submitter ⚠
p.Ser888Phe Single submitter ⚠
p.Thr1065Ile Single submitter ⚠
p.Thr323Ser Single submitter ⚠
p.Thr434Ala Single submitter ⚠
p.Thr434Asn Single submitter ⚠
p.Thr463Lys Single submitter ⚠
p.Thr552Pro Single submitter ⚠
p.Thr777Ile Single submitter ⚠
p.Thr960Asn Single submitter
p.Trp920Ter Single submitter ANKS1B-related neurodevelopmental disorder
p.Tyr600His Single submitter ⚠
p.Tyr626Cys Single submitter ⚠
p.Val105Met Single submitter ⚠
p.Val1243Ile Single submitter ⚠
p.Val1249Met Single submitter ⚠
p.Val324Leu Single submitter ⚠
p.Val710Leu Single submitter ⚠
p.Tyr1072Ter No assertion criteria ANKS1B-related disorder