ANKRD13B — 72 ClinVar variants

All ClinVar germline ANKRD13B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

1 Likely benign · 71 Uncertain significance

Full ANKRD13B 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 39

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

Predictors split 32

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

All ANKRD13B variants

Likely benign 1

p.His425= Single submitter

Uncertain significance 71

p.Ala114Val Single submitter ⚠
p.Ala223Thr Single submitter ⚠
p.Ala236Val Single submitter ⚠
p.Ala553Thr Single submitter ⚠
p.Ala562Gly Single submitter ⚠
p.Ala69Val Single submitter ⚠
p.Arg102Gln Single submitter ⚠
p.Arg186Lys Single submitter ⚠
p.Arg201His Single submitter ⚠
p.Arg202Gln Single submitter ⚠
p.Arg26Cys Single submitter ⚠
p.Arg547Cys Single submitter ⚠
p.Arg591Gln Single submitter ⚠
p.Arg606Gln Single submitter ⚠
p.Arg606Trp Single submitter ⚠
p.Arg620Lys Single submitter ⚠
p.Arg65His Single submitter ⚠
p.Arg79His Single submitter ⚠
p.Arg79Leu Single submitter ⚠
p.Asn347Ser Single submitter ⚠
p.Asp198Asn Single submitter ⚠
p.Asp198His Single submitter ⚠
p.Asp244His Single submitter ⚠
p.Asp460Asn Single submitter ⚠
p.Asp524Glu Single submitter ⚠
p.Gln160His Single submitter ⚠
p.Gln214Leu Single submitter ⚠
p.Gln599Leu Single submitter ⚠
p.Gln599Lys Single submitter ⚠
p.Glu13Gln Single submitter ⚠
p.Glu294Gly Single submitter ⚠
p.Glu477Gly Single submitter ⚠
p.Glu614Lys Single submitter ⚠
p.Gly11Arg Single submitter ⚠
p.Gly14Arg Single submitter ⚠
p.Gly14Cys Single submitter ⚠
p.Gly302Val Single submitter ⚠
p.Gly414Val Single submitter ⚠
p.Gly475Ser Single submitter ⚠
p.Gly488Ser Single submitter ⚠
p.Gly494Cys Single submitter ⚠
p.Gly580Ser Single submitter ⚠
p.His296Gln Single submitter ⚠
p.His53Tyr Single submitter ⚠
p.Ile2Asn Single submitter ⚠
p.Ile338Val Single submitter ⚠
p.Ile419Thr Single submitter ⚠
p.Leu162Val Single submitter ⚠
p.Leu220Val Single submitter ⚠
p.Leu382Pro Single submitter ⚠
p.Leu409Val Single submitter ⚠
p.Lys10Asn Single submitter ⚠
p.Met542Ile Single submitter ⚠
p.Met594Val Single submitter ⚠
p.Pro17Arg Single submitter ⚠
p.Pro17Leu Single submitter ⚠
p.Pro557Thr Single submitter ⚠
p.Pro568Arg Single submitter ⚠
p.Ser262Arg Single submitter ⚠
p.Ser331Asn Single submitter ⚠
p.Ser490Cys Single submitter ⚠
p.Thr454Met Single submitter ⚠
p.Thr50Ser Single submitter ⚠
p.Thr533Asn Single submitter ⚠
p.Thr57Met Single submitter ⚠
p.Thr624Ala Single submitter ⚠
p.Tyr20Phe Single submitter ⚠
p.Val118Met Single submitter ⚠
p.Val239Ile Single submitter ⚠
p.Val443Gly Single submitter ⚠
p.Val74Met Single submitter ⚠