CDK5RAP3 — 81 ClinVar variants
All ClinVar germline CDK5RAP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
3 Likely benign · 78 Uncertain significance
Full CDK5RAP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDK5RAP3 p.Ala196Val Uncertain significance Single submitter
- CDK5RAP3 p.Ala197Val Uncertain significance Single submitter
- CDK5RAP3 p.Ala266Val Uncertain significance Single submitter
- CDK5RAP3 p.Ala289Pro Uncertain significance Single submitter
- CDK5RAP3 p.Ala326Val Uncertain significance Single submitter
- CDK5RAP3 p.Ala466Val Uncertain significance Single submitter
- CDK5RAP3 p.Ala55Thr Uncertain significance Single submitter
- CDK5RAP3 p.Arg158Gln Uncertain significance Single submitter
- CDK5RAP3 p.Arg176Gln Uncertain significance Single submitter
- CDK5RAP3 p.Arg228Gln Uncertain significance Single submitter
- CDK5RAP3 p.Arg252Pro Uncertain significance Single submitter
- CDK5RAP3 p.Arg350Trp Uncertain significance Single submitter
- CDK5RAP3 p.Arg367Gly Uncertain significance Single submitter
- CDK5RAP3 p.Arg38Cys Uncertain significance Single submitter
- CDK5RAP3 p.Arg432Gln Uncertain significance Single submitter
- CDK5RAP3 p.Arg497His Uncertain significance Single submitter
- CDK5RAP3 p.Arg93Gln Uncertain significance Single submitter
- CDK5RAP3 p.Arg93Trp Uncertain significance Single submitter
- CDK5RAP3 p.Asn174Ser Uncertain significance Single submitter
- CDK5RAP3 p.Asp107Asn Uncertain significance Single submitter
- CDK5RAP3 p.Asp282Asn Uncertain significance Single submitter
- CDK5RAP3 p.Asp314His Uncertain significance Single submitter
- CDK5RAP3 p.Asp315Asn Uncertain significance Single submitter
- CDK5RAP3 p.Gln138Arg Uncertain significance Single submitter
- CDK5RAP3 p.Gln439Arg Uncertain significance Single submitter
- CDK5RAP3 p.Gln458His Uncertain significance Single submitter
- CDK5RAP3 p.Glu240Lys Uncertain significance Single submitter
- CDK5RAP3 p.Glu256Gln Uncertain significance Single submitter
- CDK5RAP3 p.Gly284Val Uncertain significance Single submitter
- CDK5RAP3 p.Gly291Val Uncertain significance Single submitter
- CDK5RAP3 p.Gly307Asp Uncertain significance Single submitter
- CDK5RAP3 p.Gly496Arg Uncertain significance Single submitter
- CDK5RAP3 p.Gly503Arg Uncertain significance Single submitter
- CDK5RAP3 p.Ile193Thr Uncertain significance Single submitter
- CDK5RAP3 p.Ile310Val Uncertain significance Single submitter
- CDK5RAP3 p.Ile321Leu Uncertain significance Single submitter
- CDK5RAP3 p.Ile409Thr Uncertain significance Single submitter
- CDK5RAP3 p.Leu324Val Uncertain significance Single submitter
- CDK5RAP3 p.Leu360Phe Uncertain significance Single submitter
- CDK5RAP3 p.Leu475Ile Uncertain significance Single submitter
- CDK5RAP3 p.Lys232Arg Uncertain significance Single submitter
- CDK5RAP3 p.Lys492Arg Uncertain significance Single submitter
- CDK5RAP3 p.Lys76Arg Uncertain significance Single submitter
- CDK5RAP3 p.Met226Val Uncertain significance Single submitter
- CDK5RAP3 p.Met398Leu Uncertain significance Single submitter
- CDK5RAP3 p.Met401Ile Uncertain significance Single submitter
- CDK5RAP3 p.Met48Val Uncertain significance Single submitter
- CDK5RAP3 p.Phe297Leu Uncertain significance Single submitter
- CDK5RAP3 p.Pro127Ala Uncertain significance Single submitter
- CDK5RAP3 p.Pro127Ser Uncertain significance Single submitter
- CDK5RAP3 p.Pro187Arg Uncertain significance Single submitter
- CDK5RAP3 p.Pro187Leu Uncertain significance Single submitter
- CDK5RAP3 p.Pro49Thr Uncertain significance Single submitter
- CDK5RAP3 p.Ser188Arg Uncertain significance Single submitter
- CDK5RAP3 p.Ser248Pro Uncertain significance Single submitter
- CDK5RAP3 p.Ser91Leu Uncertain significance Single submitter
- CDK5RAP3 p.Thr13Ser Uncertain significance Single submitter
- CDK5RAP3 p.Thr347Ser Uncertain significance Single submitter
- CDK5RAP3 p.Thr36Met Uncertain significance Single submitter
- CDK5RAP3 p.Thr504Ala Uncertain significance Single submitter
- CDK5RAP3 p.Tyr162Phe Uncertain significance Single submitter
- CDK5RAP3 p.Tyr65Cys Uncertain significance Single submitter
- CDK5RAP3 p.Val207Met Uncertain significance Single submitter
- CDK5RAP3 p.Val230Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CDK5RAP3 variants
Likely benign 3
- p.Ala276= Single submitter
- p.Thr171Met Single submitter
- p.Val277Ala Single submitter
Uncertain significance 78
- c.334+243G>A Single submitter pulmonary hypoplasia
- p.Ala196Val Single submitter ⚠
- p.Ala197Val Single submitter ⚠
- p.Ala266Val Single submitter ⚠
- p.Ala289Pro Single submitter ⚠
- p.Ala326Val Single submitter ⚠
- p.Ala466Val Single submitter ⚠
- p.Ala55Thr Single submitter ⚠
- p.Arg158Gln Single submitter ⚠
- p.Arg176Gln Single submitter ⚠
- p.Arg228Gln Single submitter ⚠
- p.Arg252Pro Single submitter ⚠
- p.Arg350Gln Single submitter
- p.Arg350Trp Single submitter ⚠
- p.Arg367Gly Single submitter ⚠
- p.Arg38Cys Single submitter ⚠
- p.Arg432Gln Single submitter ⚠
- p.Arg497His Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Arg93Trp Single submitter ⚠
- p.Asn174Ser Single submitter ⚠
- p.Asn235Asp Single submitter ⚠
- p.Asp107Asn Single submitter ⚠
- p.Asp282Asn Single submitter ⚠
- p.Asp314His Single submitter ⚠
- p.Asp315Asn Single submitter ⚠
- p.Gln138Arg Single submitter ⚠
- p.Gln439Arg Single submitter ⚠
- p.Gln458His Single submitter ⚠
- p.Glu240Lys Single submitter ⚠
- p.Glu256Gln Single submitter ⚠
- p.Gly270Asp Single submitter
- p.Gly284Val Single submitter ⚠
- p.Gly291Arg Single submitter ⚠
- p.Gly291Val Single submitter ⚠
- p.Gly307Asp Single submitter ⚠
- p.Gly496Arg Single submitter ⚠
- p.Gly496Trp Single submitter
- p.Gly503Arg Single submitter ⚠
- p.Ile193Thr Single submitter ⚠
- p.Ile292Ser Single submitter
- p.Ile310Val Single submitter ⚠
- p.Ile321Leu Single submitter ⚠
- p.Ile409Thr Single submitter ⚠
- p.Leu324Val Single submitter ⚠
- p.Leu360Phe Single submitter ⚠
- p.Leu475Ile Single submitter ⚠
- p.Lys232Arg Single submitter ⚠
- p.Lys492Arg Single submitter ⚠
- p.Lys76Arg Single submitter ⚠
- p.Met226Val Single submitter ⚠
- p.Met398Leu Single submitter ⚠
- p.Met401Ile Single submitter ⚠
- p.Met48Val Single submitter ⚠
- p.Phe297Leu Single submitter ⚠
- p.Pro127Ala Single submitter ⚠
- p.Pro127Ser Single submitter ⚠
- p.Pro187Arg Single submitter ⚠
- p.Pro187Leu Single submitter ⚠
- p.Pro225Ala Single submitter ⚠
- p.Pro225Gln Single submitter
- p.Pro387Ala Single submitter
- p.Pro427Gln Single submitter
- p.Pro49Thr Single submitter ⚠
- p.Ser188Arg Single submitter ⚠
- p.Ser248Cys Single submitter ⚠
- p.Ser248Pro Single submitter ⚠
- p.Ser379Phe Single submitter
- p.Ser91Leu Single submitter ⚠
- p.Thr13Ser Single submitter ⚠
- p.Thr347Ser Single submitter ⚠
- p.Thr36Met Single submitter ⚠
- p.Thr504Ala Single submitter ⚠
- p.Thr82Met Single submitter
- p.Tyr162Phe Single submitter ⚠
- p.Tyr65Cys Single submitter ⚠
- p.Val207Met Single submitter ⚠
- p.Val230Met Single submitter ⚠