ANKS3 — 174 ClinVar variants

All ClinVar germline ANKS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →

1 Pathogenic · 4 Benign · 1 Benign/Likely benign · 18 Likely benign · 150 Uncertain significance

Full ANKS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 141

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 lean, ClinVar uncertain 116

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

Predictors split 25

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

All ANKS3 variants

Pathogenic 1

p.Arg654fs No assertion criteria Short stature

Benign 4

p.Glu328= Multiple submitters
p.Gly25Glu Multiple submitters
p.His377= Multiple submitters
p.Val585= Multiple submitters

Benign/Likely benign 1

p.Leu14= Multiple submitters

Likely benign 18

p.Cys168Gly Multiple submitters
c.1010-6C>T Single submitter
p.Ala506= Single submitter
p.Ala610Val Single submitter
p.Arg286Gln Single submitter
p.Arg556Gln Single submitter
p.Arg558Gln Single submitter
p.Arg565Gln Single submitter
p.Arg629His Single submitter
p.Gln589His Single submitter
p.Glu551Lys Single submitter
p.Gly410= Single submitter
p.Gly607= Single submitter
p.Met391Val Single submitter
p.Pro602Thr Single submitter
p.Ser227Ala Single submitter
p.Thr525Met Single submitter
p.Ser582Leu No assertion criteria ANKS3-related disorder

Uncertain significance 150

p.Ala118Thr Single submitter non-immune hydrops fetalis
p.Ala271Thr Single submitter ⚠
p.Ala431Val Single submitter ⚠
p.Ala512Thr Single submitter ⚠
p.Ala512Val Single submitter ⚠
p.Ala549Thr Single submitter ⚠
p.Ala564Val Single submitter ⚠
p.Ala567Gly Single submitter ⚠
p.Ala579Gly Single submitter ⚠
p.Ala603Val Single submitter ⚠
p.Arg16Cys Single submitter ⚠
p.Arg234Gln Single submitter ⚠
p.Arg234Trp Single submitter ⚠
p.Arg256Ser Single submitter ⚠
p.Arg270Gln Single submitter ⚠
p.Arg288His Single submitter ⚠
p.Arg359Gly Single submitter ⚠
p.Arg384Cys Single submitter ⚠
p.Arg403His Single submitter ⚠
p.Arg454Cys Single submitter ⚠
p.Arg476Ser Single submitter ⚠
p.Arg490His Single submitter ⚠
p.Arg503Gly Single submitter ⚠
p.Arg503Trp Single submitter ⚠
p.Arg518Cys Single submitter ⚠
p.Arg526Trp Single submitter ⚠
p.Arg536Leu Single submitter ⚠
p.Arg548Cys Single submitter ⚠
p.Arg548His Single submitter ⚠
p.Arg550His Single submitter ⚠
p.Arg556Trp Single submitter ⚠
p.Arg558Leu Single submitter ⚠
p.Arg558Trp Single submitter ⚠
p.Arg565Trp Single submitter ⚠
p.Arg627Cys Single submitter ⚠
p.Arg627His Single submitter ⚠
p.Asn190Ser Single submitter ⚠
p.Asn372Ser Single submitter ⚠
p.Asp196Asn Single submitter ⚠
p.Asp199Glu Single submitter ⚠
p.Asp222Asn Single submitter ⚠
p.Asp407Val Single submitter ⚠
p.Asp450Glu Single submitter ⚠
p.Asp502Asn Single submitter ⚠
p.Asp502Glu Single submitter ⚠
p.Asp566Tyr Single submitter ⚠
p.Asp588Asn Single submitter ⚠
p.Asp588Glu Single submitter ⚠
p.Asp604Ala Single submitter ⚠
p.Asp604Val Single submitter ⚠
p.Asp61Glu Single submitter ⚠
p.Asp82Asn Single submitter ⚠
p.Cys112Tyr Single submitter ⚠
p.Cys168Arg Single submitter ⚠
p.Cys530Tyr Single submitter ⚠
p.Gln253Arg Single submitter ⚠
p.Gln418Glu Single submitter ⚠
p.Gln47Arg Single submitter ⚠
p.Gln546Lys Single submitter ⚠
p.Glu101Ala Single submitter ⚠
p.Glu240Lys Single submitter ⚠
p.Glu247Lys Single submitter ⚠
p.Glu305Lys Single submitter ⚠
p.Glu32Asp Single submitter ⚠
p.Glu366Lys Single submitter ⚠
p.Glu373Lys Single submitter
p.Glu3Lys Single submitter ⚠
p.Glu435Gly Single submitter ⚠
p.Glu520Gln Single submitter ⚠
p.Glu520Lys Single submitter ⚠
p.Glu545Gly Single submitter ⚠
p.Glu59Asp Single submitter ⚠
p.Glu59Lys Single submitter ⚠
p.Glu619Gln Single submitter ⚠
p.Glu643Lys Single submitter ⚠
p.Glu655Lys Single submitter ⚠
p.Gly213Arg Single submitter
p.Gly262Ala Single submitter ⚠
p.Gly282Ser Single submitter ⚠
p.Gly304Ala Single submitter ⚠
p.Gly30Trp Single submitter ⚠
p.Gly312Asp Single submitter ⚠
p.Gly493Arg Single submitter ⚠
p.Gly597Asp Single submitter ⚠
p.Gly650Arg Single submitter ⚠
p.His147Asn Single submitter ⚠
p.His200Asn Single submitter ⚠
p.His200Asp Single submitter ⚠
p.His266Gln Single submitter ⚠
p.His486Tyr Single submitter ⚠
p.Ile167Lys Single submitter ⚠
p.Ile167Met Single submitter ⚠
p.Ile183Lys Single submitter ⚠
p.Ile217Thr Single submitter ⚠
p.Ile278Thr Single submitter ⚠
p.Ile437Ser Single submitter ⚠
p.Ile79Met Single submitter ⚠
p.Ile79Thr Single submitter ⚠
p.Leu228Pro Single submitter ⚠
p.Leu313Arg Single submitter ⚠
p.Leu363Phe Single submitter ⚠
p.Leu39Val Single submitter ⚠
p.Leu496Pro Single submitter
p.Leu563Val Single submitter ⚠
p.Leu569Val Single submitter ⚠
p.Leu612Met Single submitter ⚠
p.Leu89Ile Single submitter
p.Lys194Arg Single submitter ⚠
p.Lys194Asn Single submitter ⚠
p.Lys394Glu Single submitter ⚠
p.Lys441Glu Single submitter ⚠
p.Lys517Gln Single submitter ⚠
p.Met20Val Single submitter ⚠
p.Met215Leu Single submitter ⚠
p.Met391Leu Single submitter ⚠
p.Met615Lys Single submitter ⚠
p.Met615Val Single submitter ⚠
p.Phe411Ser Single submitter ⚠
p.Pro294Ser Single submitter ⚠
p.Pro307Thr Single submitter ⚠
p.Pro347Leu Single submitter ⚠
p.Pro347Ser Single submitter ⚠
p.Pro427Leu Single submitter
p.Pro590Arg Single submitter ⚠
p.Pro590Leu Single submitter ⚠
p.Pro591Arg Single submitter ⚠
p.Pro601Ser Single submitter ⚠
p.Pro602Gln Single submitter ⚠
p.Ser111Gly Single submitter
p.Ser201Thr Single submitter ⚠
p.Ser225Leu Single submitter ⚠
p.Ser264Asn Single submitter ⚠
p.Ser303Asn Single submitter ⚠
p.Ser333Asn Single submitter ⚠
p.Ser350Asn Single submitter ⚠
p.Ser353Asn Single submitter ⚠
p.Ser354Arg Single submitter
p.Ser365Arg Single submitter ⚠
p.Ser381Cys Single submitter ⚠
p.Ser382Pro Single submitter ⚠
p.Ser415Tyr Single submitter ⚠
p.Ser621Ala Single submitter ⚠
p.Thr470Ala Single submitter ⚠
p.Thr479Met Single submitter
p.Thr560Ala Single submitter ⚠
p.Thr560Met Single submitter ⚠
p.Thr595Ala Single submitter ⚠
p.Tyr233Cys Single submitter ⚠
p.Val55Leu Single submitter ⚠
p.Val600Ile Single submitter ⚠