ANKDD1A — 82 ClinVar variants
All ClinVar germline ANKDD1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
7 Likely benign · 75 Uncertain significance
Full ANKDD1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANKDD1A p.Ala115Thr Uncertain significance Single submitter
- ANKDD1A p.Ala280Ser Uncertain significance Single submitter
- ANKDD1A p.Ala284Ser Uncertain significance Single submitter
- ANKDD1A p.Ala480Thr Uncertain significance Single submitter
- ANKDD1A p.Ala6Glu Uncertain significance Single submitter
- ANKDD1A p.Ala82Val Uncertain significance Single submitter
- ANKDD1A p.Arg202Gln Uncertain significance Single submitter
- ANKDD1A p.Arg210Gln Uncertain significance Single submitter
- ANKDD1A p.Arg24His Uncertain significance Single submitter
- ANKDD1A p.Arg366His Uncertain significance Single submitter
- ANKDD1A p.Arg381His Uncertain significance Single submitter
- ANKDD1A p.Arg461Gln Uncertain significance Single submitter
- ANKDD1A p.Arg65His Uncertain significance Single submitter
- ANKDD1A p.Asn476Asp Uncertain significance Single submitter
- ANKDD1A p.Gln25His Uncertain significance Single submitter
- ANKDD1A p.Glu148Lys Uncertain significance Single submitter
- ANKDD1A p.Glu220Lys Uncertain significance Single submitter
- ANKDD1A p.Glu220Val Uncertain significance Single submitter
- ANKDD1A p.Glu76Lys Uncertain significance Single submitter
- ANKDD1A p.Gly11Ser Uncertain significance Single submitter
- ANKDD1A p.His169Gln Uncertain significance Single submitter
- ANKDD1A p.His301Tyr Uncertain significance Single submitter
- ANKDD1A p.His329Tyr Uncertain significance Single submitter
- ANKDD1A p.His369Arg Uncertain significance Single submitter
- ANKDD1A p.His404Arg Uncertain significance Single submitter
- ANKDD1A p.Ile339Met Uncertain significance Single submitter
- ANKDD1A p.Ile376Leu Uncertain significance Single submitter
- ANKDD1A p.Ile376Met Uncertain significance Single submitter
- ANKDD1A p.Ile488Leu Uncertain significance Single submitter
- ANKDD1A p.Leu254Phe Uncertain significance Single submitter
- ANKDD1A p.Leu277Val Uncertain significance Single submitter
- ANKDD1A p.Leu485Phe Uncertain significance Single submitter
- ANKDD1A p.Leu95Pro Uncertain significance Single submitter
- ANKDD1A p.Lys430Gln Uncertain significance Single submitter
- ANKDD1A p.Met342Thr Uncertain significance Single submitter
- ANKDD1A p.Phe142Leu Uncertain significance Single submitter
- ANKDD1A p.Pro393Arg Uncertain significance Single submitter
- ANKDD1A p.Pro425Thr Uncertain significance Single submitter
- ANKDD1A p.Ser268Arg Uncertain significance Single submitter
- ANKDD1A p.Ser270Leu Uncertain significance Single submitter
- ANKDD1A p.Ser394Cys Uncertain significance Single submitter
- ANKDD1A p.Thr126Ser Uncertain significance Single submitter
- ANKDD1A p.Thr194Asn Uncertain significance Single submitter
- ANKDD1A p.Thr227Ile Uncertain significance Single submitter
- ANKDD1A p.Thr472Met Uncertain significance Single submitter
- ANKDD1A p.Tyr422Cys Uncertain significance Single submitter
- ANKDD1A p.Tyr433Cys Uncertain significance Single submitter
- ANKDD1A p.Tyr433His Uncertain significance Single submitter
- ANKDD1A p.Val286Met Uncertain significance Single submitter
- ANKDD1A p.Val414Ala Uncertain significance Single submitter
- ANKDD1A p.Val414Met Uncertain significance Single submitter
- ANKDD1A p.Val80Leu Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- ANKDD1A p.Ala162Val Uncertain significance Single submitter
- ANKDD1A p.Ala253Pro Uncertain significance Single submitter
- ANKDD1A p.Ala280Thr Uncertain significance Single submitter
- ANKDD1A p.Ala360Thr Uncertain significance Single submitter
- ANKDD1A p.Ala58Thr Uncertain significance Single submitter
- ANKDD1A p.Arg275Trp Uncertain significance Single submitter
- ANKDD1A p.Arg405Trp Uncertain significance Single submitter
- ANKDD1A p.Arg417Trp Uncertain significance Single submitter
- ANKDD1A p.Asp349Ala Uncertain significance Single submitter
- ANKDD1A p.Asp492Asn Uncertain significance Single submitter
- ANKDD1A p.Glu446Lys Uncertain significance Single submitter
- ANKDD1A p.Glu483Lys Uncertain significance Single submitter
- ANKDD1A p.Gly114Arg Uncertain significance Single submitter
- ANKDD1A p.Gly91Glu Uncertain significance Single submitter
- ANKDD1A p.Ile35Thr Uncertain significance Single submitter
- ANKDD1A p.Phe90Leu Uncertain significance Single submitter
- ANKDD1A p.Pro238Arg Uncertain significance Single submitter
- ANKDD1A p.Thr438Met Uncertain significance Single submitter
- ANKDD1A p.Val251Met Uncertain significance Single submitter
All ANKDD1A variants
Likely benign 7
- p.Ala284Thr Single submitter
- p.Ala305= Single submitter
- p.Arg105Gln Single submitter
- p.Arg308Gln Single submitter
- p.Arg417Gln Single submitter
- p.Arg426His Single submitter
- p.Leu485= Single submitter
Uncertain significance 75
- p.Ala115Thr Single submitter ⚠
- p.Ala162Val Single submitter ⚠
- p.Ala253Pro Single submitter ⚠
- p.Ala280Ser Single submitter ⚠
- p.Ala280Thr Single submitter ⚠
- p.Ala284Ser Single submitter ⚠
- p.Ala360Thr Single submitter ⚠
- p.Ala480Thr Single submitter ⚠
- p.Ala58Thr Single submitter ⚠
- p.Ala6Glu Single submitter ⚠
- p.Ala82Val Single submitter ⚠
- p.Ala94Val Single submitter
- p.Arg202Gln Single submitter ⚠
- p.Arg210Gln Single submitter ⚠
- p.Arg24His Single submitter ⚠
- p.Arg275Trp Single submitter ⚠
- p.Arg366His Single submitter ⚠
- p.Arg381His Single submitter ⚠
- p.Arg405Trp Single submitter ⚠
- p.Arg417Trp Single submitter ⚠
- p.Arg461Gln Single submitter ⚠
- p.Arg65His Single submitter ⚠
- p.Asn476Asp Single submitter ⚠
- p.Asp349Ala Single submitter ⚠
- p.Asp492Asn Single submitter ⚠
- p.Gln25His Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Glu220Lys Single submitter ⚠
- p.Glu220Val Single submitter ⚠
- p.Glu446Lys Single submitter ⚠
- p.Glu483Lys Single submitter ⚠
- p.Glu76Lys Single submitter ⚠
- p.Gly114Arg Single submitter ⚠
- p.Gly11Ser Single submitter ⚠
- p.Gly192Arg Single submitter
- p.Gly91Glu Single submitter ⚠
- p.His103Leu Single submitter
- p.His169Gln Single submitter ⚠
- p.His301Tyr Single submitter ⚠
- p.His329Tyr Single submitter ⚠
- p.His369Arg Single submitter ⚠
- p.His404Arg Single submitter ⚠
- p.Ile339Met Single submitter ⚠
- p.Ile35Thr Single submitter ⚠
- p.Ile376Leu Single submitter ⚠
- p.Ile376Met Single submitter ⚠
- p.Ile488Leu Single submitter ⚠
- p.Leu254Phe Single submitter ⚠
- p.Leu277Val Single submitter ⚠
- p.Leu485Phe Single submitter ⚠
- p.Leu95Pro Single submitter ⚠
- p.Lys430Gln Single submitter ⚠
- p.Met342Thr Single submitter ⚠
- p.Phe142Leu Single submitter ⚠
- p.Phe90Leu Single submitter ⚠
- p.Pro238Arg Single submitter ⚠
- p.Pro294Thr Single submitter
- p.Pro393Arg Single submitter ⚠
- p.Pro425Thr Single submitter ⚠
- p.Ser268Arg Single submitter ⚠
- p.Ser270Leu Single submitter ⚠
- p.Ser394Cys Single submitter ⚠
- p.Thr126Ser Single submitter ⚠
- p.Thr194Asn Single submitter ⚠
- p.Thr227Ile Single submitter ⚠
- p.Thr438Met Single submitter ⚠
- p.Thr472Met Single submitter ⚠
- p.Tyr422Cys Single submitter ⚠
- p.Tyr433Cys Single submitter ⚠
- p.Tyr433His Single submitter ⚠
- p.Val251Met Single submitter ⚠
- p.Val286Met Single submitter ⚠
- p.Val414Ala Single submitter ⚠
- p.Val414Met Single submitter ⚠
- p.Val80Leu Single submitter ⚠