ANKHD1 — 11 ClinVar variants
All ClinVar germline ANKHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
2 Benign · 9 Uncertain significance
Full ANKHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANKHD1 p.Ala2358Ser Uncertain significance Single submitter
- ANKHD1 p.Ala262Thr Uncertain significance Single submitter
- ANKHD1 p.Arg136His Uncertain significance Single submitter
- ANKHD1 p.Gln737Arg Uncertain significance Single submitter
- ANKHD1 p.Ile458Thr Uncertain significance Single submitter
- ANKHD1 p.Val1275Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All ANKHD1 variants
Benign 2
- c.3551+277A>G Single submitter
- p.Pro2386Ala Single submitter
Uncertain significance 9
- p.Ala2358Ser Single submitter ⚠
- p.Ala262Thr Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Asn2225fs Single submitter
- p.Gln737Arg Single submitter ⚠
- p.Ile458Thr Single submitter ⚠
- p.Lys677Arg Single submitter ⚠
- p.Pro2531Ser Single submitter ⚠
- p.Val1275Ile Single submitter ⚠