ANKDD1B — 11 ClinVar variants
All ClinVar germline ANKDD1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
8 Benign · 1 Benign/Likely benign · 2 Likely benign
Full ANKDD1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2
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 split 2
The independent predictors disagree with each other — read with care.
All ANKDD1B variants
Benign 8
- p.Ala60Asp Multiple submitters
- p.Asn318Lys Multiple submitters
- p.Asp2Glu Multiple submitters
- p.His245Arg Multiple submitters
- p.Leu495Val Multiple submitters ⚠
- p.Trp463Ter Multiple submitters
- p.Val292Ala Multiple submitters
- p.Leu19fs Single submitter
Benign/Likely benign 1
- p.Arg470His Multiple submitters ⚠
Likely benign 2
- p.Gln462Ter Multiple submitters
- p.Arg181His Single submitter