CDK11B — 14 ClinVar variants

All ClinVar germline CDK11B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →

10 Likely benign · 4 Uncertain significance

Full CDK11B 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 lean, ClinVar uncertain 1

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

CDK11B p.Arg591Leu Uncertain significance Single submitter
Brachymorphism-onychodysplasia-dysphalangism syndrome

Predictors split 1

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

CDK11B p.Arg109Gly Uncertain significance Single submitter

All CDK11B variants

Likely benign 10

p.Ala399= Single submitter
p.Gln384= Single submitter
p.Glu323_Thr324insGlu Single submitter
p.Ile484= Single submitter
p.Ile499= Single submitter
p.Lys551= Single submitter
p.Ser386= Single submitter
p.Ser469= Single submitter
p.Ser603= Single submitter
p.Thr582= Single submitter

Uncertain significance 4

p.Arg109Gly Single submitter ⚠
p.Arg591Leu Single submitter Brachymorphism-onychodysplasia-dysphalangism syndrome ⚠
p.Asp40Gly Single submitter Seizure
p.Leu171fs Single submitter Brachymorphism-onychodysplasia-dysphalangism syndrome