CDK6 — 41 ClinVar variants
All ClinVar germline CDK6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Pathogenic · 1 Conflicting · 14 Benign · 1 Benign/Likely benign · 12 Likely benign · 12 Uncertain significance
Full CDK6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDK6 p.Ala162Thr Uncertain significance Single submitter
- CDK6 p.Ala9Pro Uncertain significance Single submitter
- CDK6 p.Arg220His Uncertain significance Single submitter
- CDK6 p.Asp233Asn Uncertain significance Single submitter
- CDK6 p.Glu304Gln Uncertain significance Single submitter
- CDK6 p.Gly132Ala Uncertain significance Single submitter
- CDK6 p.Gly165Ser Uncertain significance Single submitter
- CDK6 p.Val179Leu Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All CDK6 variants
Pathogenic 1
- p.Ala197Thr No assertion criteria microcephaly 12, primary, autosomal recessive
Conflicting classifications of pathogenicity 1
- p.Asp110Asn Single submitter ⚠
Benign 14
- c.370-118G>A Multiple submitters
- c.537+257A>T Multiple submitters
- c.538-14G>A Multiple submitters
- c.647+153C>T Multiple submitters
- c.698+147G>C Multiple submitters
- c.699-18T>C Multiple submitters
- c.834+53T>C Multiple submitters
- c.*32G>A Multiple submitters
- p.Pro148= Multiple submitters
- c.369+151G>A Single submitter
- c.538-191G>A Single submitter
- c.834+274G>A Single submitter
- c.835-35_835-31del Single submitter
- p.Pro217= Single submitter
Benign/Likely benign 1
- p.Ser317Cys Multiple submitters
Likely benign 12
- p.Pro315= Multiple submitters
- p.Thr182= Multiple submitters
- p.Thr282= Multiple submitters
- c.233+8A>T Single submitter
- p.Gly22= Single submitter
- p.Phe98= Single submitter
- p.Pro188= Single submitter
- p.Pro199= Single submitter
- p.Pro238= Single submitter
- p.Pro298= Single submitter
- p.Ser156= Single submitter
- p.Tyr196= Single submitter
Uncertain significance 12
- p.Ala162Thr Single submitter ⚠
- p.Ala259Thr Single submitter ⚠
- p.Ala9Pro Single submitter ⚠
- p.Arg220His Single submitter ⚠
- p.Asp233Asn Single submitter ⚠
- p.Glu304Gln Single submitter ⚠
- p.Glu91Asp Single submitter ⚠
- p.Gly132Ala Single submitter ⚠
- p.Gly165Ser Single submitter ⚠
- p.Met54Val Single submitter
- p.Val179Leu Single submitter ⚠
- p.Val234Met Single submitter ⚠