CDK9 — 47 ClinVar variants
All ClinVar germline CDK9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Pathogenic/Likely pathogenic · 4 Benign · 8 Likely benign · 34 Uncertain significance
Full CDK9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CDK9 p.Ala288Thr
Uncertain significance
Single submitter
CDK9-related disorder
- CDK9 p.Ala36Gly Uncertain significance Single submitter
- CDK9 p.Arg273Trp Uncertain significance Single submitter
- CDK9 p.Arg303Gly Uncertain significance Single submitter
- CDK9 p.Arg303Leu Uncertain significance Single submitter
- CDK9 p.Asn183Asp Uncertain significance Single submitter
- CDK9 p.Asp293Asn Uncertain significance Single submitter
- CDK9 p.Cys85Tyr Uncertain significance Single submitter
- CDK9 p.Glu66Gly Uncertain significance Single submitter
- CDK9 p.Glu9Ala Uncertain significance Single submitter
- CDK9 p.Gly326Ser Uncertain significance Single submitter
- CDK9 p.Gly58Arg Uncertain significance Single submitter
- CDK9 p.Ile304Met Uncertain significance Single submitter
- CDK9 p.Leu123Arg Uncertain significance Single submitter
- CDK9 p.Leu70Phe Uncertain significance Single submitter
- CDK9 p.Lys24Arg Uncertain significance Single submitter
- CDK9 p.Phe168Ile Uncertain significance Single submitter
- CDK9 p.Phe34Ile Uncertain significance Single submitter
- CDK9 p.Pro321Ser Uncertain significance Single submitter
- CDK9 p.Pro360Ser Uncertain significance Single submitter
- CDK9 p.Ser329Phe Uncertain significance Single submitter
- CDK9 p.Thr233Met Uncertain significance Single submitter
- CDK9 p.Thr362Ala Uncertain significance Single submitter
- CDK9 p.Thr366Met Uncertain significance Single submitter
- CDK9 p.Trp223Arg Uncertain significance Single submitter
- CDK9 p.Tyr206Cys Uncertain significance Single submitter
- CDK9 p.Val256Met Uncertain significance Single submitter
- CDK9 p.Val283Gly Uncertain significance Single submitter
- CDK9 p.Val78Gly Uncertain significance Single submitter
-
CDK9 p.Leu118Ser
Uncertain significance
No assertion criteria
CDK9-related disorder
-
CDK9 p.Met219Thr
Uncertain significance
No assertion criteria
CDK9-related disorder
Predictors split 3
The independent predictors disagree with each other — read with care.
All CDK9 variants
Pathogenic/Likely pathogenic 1
- p.Arg225Cys Multiple submitters
Benign 4
- c.175-7C>T Multiple submitters
- p.Ala173= Single submitter
- c.433-6C>T No assertion criteria CDK9-related disorder
- p.Ala63= No assertion criteria CDK9-related disorder
Likely benign 8
- p.Ile292= Single submitter
- c.175-3C>T No assertion criteria CDK9-related disorder
- c.754-8C>T No assertion criteria CDK9-related disorder
- p.Ala361= No assertion criteria CDK9-related disorder
- p.Asp109= No assertion criteria CDK9-related disorder
- p.Cys106= No assertion criteria CDK9-related disorder
- p.Glu203Ter No assertion criteria CDK9-related disorder
- p.Thr354= No assertion criteria CDK9-related disorder
Uncertain significance 34
- p.Ala288Thr Single submitter CDK9-related disorder ⚠
- p.Ala36Gly Single submitter ⚠
- p.Arg273Trp Single submitter ⚠
- p.Arg303Gly Single submitter ⚠
- p.Arg303Leu Single submitter ⚠
- p.Asn143Tyr Single submitter ⚠
- p.Asn183Asp Single submitter ⚠
- p.Asp293Asn Single submitter ⚠
- p.Asp307Asn Single submitter ⚠
- p.Cys85Tyr Single submitter ⚠
- p.Glu66Gly Single submitter ⚠
- p.Glu9Ala Single submitter ⚠
- p.Gly326Ser Single submitter ⚠
- p.Gly58Arg Single submitter ⚠
- p.Ile304Met Single submitter ⚠
- p.Leu123Arg Single submitter ⚠
- p.Leu70Phe Single submitter ⚠
- p.Lys24Arg Single submitter ⚠
- p.Phe168Ile Single submitter ⚠
- p.Phe34Ile Single submitter ⚠
- p.Pro321Ser Single submitter ⚠
- p.Pro360Ser Single submitter ⚠
- p.Ser329Phe Single submitter ⚠
- p.Thr233Met Single submitter ⚠
- p.Thr362Ala Single submitter ⚠
- p.Thr366Met Single submitter ⚠
- p.Trp223Arg Single submitter ⚠
- p.Tyr206Cys Single submitter ⚠
- p.Val129Met Single submitter ⚠
- p.Val256Met Single submitter ⚠
- p.Val283Gly Single submitter ⚠
- p.Val78Gly Single submitter ⚠
- p.Leu118Ser No assertion criteria CDK9-related disorder ⚠
- p.Met219Thr No assertion criteria CDK9-related disorder ⚠