CDKAL1 — 74 ClinVar variants
All ClinVar germline CDKAL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
4 Benign · 5 Likely benign · 65 Uncertain significance
Full CDKAL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDKAL1 p.Ala325Pro Uncertain significance Single submitter
- CDKAL1 p.Ala495Gly Uncertain significance Single submitter
- CDKAL1 p.Ala507Thr Uncertain significance Single submitter
- CDKAL1 p.Ala534Thr Uncertain significance Single submitter
- CDKAL1 p.Ala535Thr Uncertain significance Single submitter
- CDKAL1 p.Ala541Val Uncertain significance Single submitter
- CDKAL1 p.Ala557Val Uncertain significance Single submitter
- CDKAL1 p.Arg145His Uncertain significance Single submitter
- CDKAL1 p.Arg162Ser Uncertain significance Single submitter
- CDKAL1 p.Arg416Lys Uncertain significance Single submitter
- CDKAL1 p.Asn524Asp Uncertain significance Single submitter
- CDKAL1 p.Asn76Ser Uncertain significance Single submitter
- CDKAL1 p.Asp11Val Uncertain significance Single submitter
- CDKAL1 p.Asp361Gly Uncertain significance Single submitter
- CDKAL1 p.Asp494Asn Uncertain significance Single submitter
- CDKAL1 p.Cys364Arg Uncertain significance Single submitter
- CDKAL1 p.Cys364Tyr Uncertain significance Single submitter
- CDKAL1 p.Gln525Arg Uncertain significance Single submitter
- CDKAL1 p.Gln537His Uncertain significance Single submitter
- CDKAL1 p.Glu128Lys Uncertain significance Single submitter
- CDKAL1 p.Gly213Arg Uncertain significance Single submitter
- CDKAL1 p.Gly529Glu Uncertain significance Single submitter
- CDKAL1 p.Gly72Cys Uncertain significance Single submitter
- CDKAL1 p.Ile16Thr Uncertain significance Single submitter
- CDKAL1 p.Ile199Val Uncertain significance Single submitter
- CDKAL1 p.Leu105Pro Uncertain significance Single submitter
- CDKAL1 p.Leu330Val Uncertain significance Single submitter
- CDKAL1 p.Leu420Phe Uncertain significance Single submitter
- CDKAL1 p.Lys150Glu Uncertain significance Single submitter
- CDKAL1 p.Lys32Asn Uncertain significance Single submitter
- CDKAL1 p.Lys352Asn Uncertain significance Single submitter
- CDKAL1 p.Lys484Arg Uncertain significance Single submitter
- CDKAL1 p.Met471Leu Uncertain significance Single submitter
- CDKAL1 p.Phe470Leu Uncertain significance Single submitter
- CDKAL1 p.Pro401Ser Uncertain significance Single submitter
- CDKAL1 p.Thr256Asn Uncertain significance Single submitter
- CDKAL1 p.Thr499Met Uncertain significance Single submitter
- CDKAL1 p.Tyr297Cys Uncertain significance Single submitter
- CDKAL1 p.Tyr459Cys Uncertain significance Single submitter
- CDKAL1 p.Val462Leu Uncertain significance Single submitter
- CDKAL1 p.Val475Ile Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- CDKAL1 p.Arg39Gln Likely benign Multiple submitters
- CDKAL1 p.Ala126Val Uncertain significance Single submitter
- CDKAL1 p.Ala316Thr Uncertain significance Single submitter
- CDKAL1 p.Arg145Leu Uncertain significance Single submitter
- CDKAL1 p.Arg188Gln Uncertain significance Single submitter
- CDKAL1 p.Arg41Gln Uncertain significance Single submitter
- CDKAL1 p.Asp327Asn Uncertain significance Single submitter
- CDKAL1 p.Gln158Lys Uncertain significance Single submitter
- CDKAL1 p.Gln64Arg Uncertain significance Single submitter
- CDKAL1 p.Gly355Ala Uncertain significance Single submitter
- CDKAL1 p.Gly368Glu Uncertain significance Single submitter
- CDKAL1 p.Gly489Ala Uncertain significance Single submitter
- CDKAL1 p.His425Asp Uncertain significance Single submitter
- CDKAL1 p.Ile154Val Uncertain significance Single submitter
- CDKAL1 p.Ile235Thr Uncertain significance Single submitter
- CDKAL1 p.Leu152Gln Uncertain significance Single submitter
- CDKAL1 p.Leu271Phe Uncertain significance Single submitter
- CDKAL1 p.Lys473Glu Uncertain significance Single submitter
- CDKAL1 p.Pro491Arg Uncertain significance Single submitter
- CDKAL1 p.Ser328Gly Uncertain significance Single submitter
- CDKAL1 p.Thr273Ile Uncertain significance Single submitter
- CDKAL1 p.Val322Ile Uncertain significance Single submitter
- CDKAL1 p.Val562Met Uncertain significance Single submitter
All CDKAL1 variants
Benign 4
- c.1549-4A>G Single submitter
- p.Leu564= Single submitter
- p.Pro197= Single submitter
- p.Ser99= Single submitter
Likely benign 5
- p.Arg39Gln Multiple submitters ⚠
- c.1549-5TA[3] Single submitter
- p.Gln525His Single submitter
- p.Phe574Leu Single submitter
- p.Tyr452Phe Single submitter
Uncertain significance 65
- p.Ala126Val Single submitter ⚠
- p.Ala316Thr Single submitter ⚠
- p.Ala325Pro Single submitter ⚠
- p.Ala495Gly Single submitter ⚠
- p.Ala507Thr Single submitter ⚠
- p.Ala534Thr Single submitter ⚠
- p.Ala535Thr Single submitter ⚠
- p.Ala541Val Single submitter ⚠
- p.Ala557Val Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg145Leu Single submitter ⚠
- p.Arg162Ser Single submitter ⚠
- p.Arg188Gln Single submitter ⚠
- p.Arg416Lys Single submitter ⚠
- p.Arg41Gln Single submitter ⚠
- p.Asn524Asp Single submitter ⚠
- p.Asn76Ser Single submitter ⚠
- p.Asp11Val Single submitter ⚠
- p.Asp327Asn Single submitter ⚠
- p.Asp361Gly Single submitter ⚠
- p.Asp494Asn Single submitter ⚠
- p.Cys364Arg Single submitter ⚠
- p.Cys364Tyr Single submitter ⚠
- p.Gln158Lys Single submitter ⚠
- p.Gln525Arg Single submitter ⚠
- p.Gln537His Single submitter ⚠
- p.Gln64Arg Single submitter ⚠
- p.Glu128Lys Single submitter ⚠
- p.Gly213Arg Single submitter ⚠
- p.Gly355Ala Single submitter ⚠
- p.Gly368Glu Single submitter ⚠
- p.Gly489Ala Single submitter ⚠
- p.Gly529Glu Single submitter ⚠
- p.Gly72Cys Single submitter ⚠
- p.His425Asp Single submitter ⚠
- p.Ile154Val Single submitter ⚠
- p.Ile16Thr Single submitter ⚠
- p.Ile199Val Single submitter ⚠
- p.Ile235Thr Single submitter ⚠
- p.Leu105Pro Single submitter ⚠
- p.Leu152Gln Single submitter ⚠
- p.Leu271Phe Single submitter ⚠
- p.Leu330Val Single submitter ⚠
- p.Leu420Phe Single submitter ⚠
- p.Lys150Glu Single submitter ⚠
- p.Lys32Asn Single submitter ⚠
- p.Lys352Asn Single submitter ⚠
- p.Lys473Glu Single submitter ⚠
- p.Lys484Arg Single submitter ⚠
- p.Met471Leu Single submitter ⚠
- p.Phe470Leu Single submitter ⚠
- p.Pro401Ser Single submitter ⚠
- p.Pro491Arg Single submitter ⚠
- p.Ser328Gly Single submitter ⚠
- p.Thr256Asn Single submitter ⚠
- p.Thr273Ile Single submitter ⚠
- p.Thr499Met Single submitter ⚠
- p.Tyr297Cys Single submitter ⚠
- p.Tyr459Cys Single submitter ⚠
- p.Val322Ile Single submitter ⚠
- p.Val462Leu Single submitter ⚠
- p.Val475Ile Single submitter ⚠
- p.Val562Met Single submitter ⚠
- c.371+11426A>C No assertion criteria type 2 diabetes mellitus
- c.371+30101A>G No assertion criteria type 2 diabetes mellitus