CKMT2 — 67 ClinVar variants
All ClinVar germline CKMT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
1 Likely benign · 66 Uncertain significance
Full CKMT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CKMT2 p.Ala14Val Uncertain significance Single submitter
- CKMT2 p.Ala71Val Uncertain significance Single submitter
- CKMT2 p.Arg12Ser Uncertain significance Single submitter
- CKMT2 p.Arg166Cys Uncertain significance Single submitter
- CKMT2 p.Arg169His Uncertain significance Single submitter
- CKMT2 p.Arg172Cys Uncertain significance Single submitter
- CKMT2 p.Arg182Trp Uncertain significance Single submitter
- CKMT2 p.Arg185Gln Uncertain significance Single submitter
- CKMT2 p.Arg220Gly Uncertain significance Single submitter
- CKMT2 p.Arg270Ser Uncertain significance Single submitter
- CKMT2 p.Arg282Gln Uncertain significance Single submitter
- CKMT2 p.Arg282Leu Uncertain significance Single submitter
- CKMT2 p.Arg310His Uncertain significance Single submitter
- CKMT2 p.Arg354Cys Uncertain significance Single submitter
- CKMT2 p.Arg378Gln Uncertain significance Single submitter
- CKMT2 p.Arg403Thr Uncertain significance Single submitter
- CKMT2 p.Arg42Gln Uncertain significance Single submitter
- CKMT2 p.Arg58Cys Uncertain significance Single submitter
- CKMT2 p.Arg77Cys Uncertain significance Single submitter
- CKMT2 p.Arg77His Uncertain significance Single submitter
- CKMT2 p.Asn97Lys Uncertain significance Single submitter
- CKMT2 p.Asp224Gly Uncertain significance Single submitter
- CKMT2 p.Asp389Asn Uncertain significance Single submitter
- CKMT2 p.Cys90Arg Uncertain significance Single submitter
- CKMT2 p.Gln44Glu Uncertain significance Single submitter
- CKMT2 p.Glu157Lys Uncertain significance Single submitter
- CKMT2 p.Gly29Arg Uncertain significance Single submitter
- CKMT2 p.Gly322Val Uncertain significance Single submitter
- CKMT2 p.Gly377Val Uncertain significance Single submitter
- CKMT2 p.Ile193Val Uncertain significance Single submitter
- CKMT2 p.Ile373Thr Uncertain significance Single submitter
- CKMT2 p.Ile407Thr Uncertain significance Single submitter
- CKMT2 p.Leu336Phe Uncertain significance Single submitter
- CKMT2 p.Leu47Pro Uncertain significance Single submitter
- CKMT2 p.Lys408Met Uncertain significance Single submitter
- CKMT2 p.Pro234Leu Uncertain significance Single submitter
- CKMT2 p.Pro411Leu Uncertain significance Single submitter
- CKMT2 p.Pro45Leu Uncertain significance Single submitter
- CKMT2 p.Ser15Phe Uncertain significance Single submitter
- CKMT2 p.Ser24Gly Uncertain significance Single submitter
- CKMT2 p.Ser371Tyr Uncertain significance Single submitter
- CKMT2 p.Thr194Ala Uncertain significance Single submitter
- CKMT2 p.Tyr116Cys Uncertain significance Single submitter
- CKMT2 p.Tyr159His Uncertain significance Single submitter
- CKMT2 p.Tyr313Cys Uncertain significance Single submitter
- CKMT2 p.Val106Ala Uncertain significance Single submitter
- CKMT2 p.Val160Met Uncertain significance Single submitter
- CKMT2 p.Val331Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- CKMT2 p.Arg12Cys Uncertain significance Single submitter
- CKMT2 p.Arg12His Uncertain significance Single submitter
- CKMT2 p.Arg296Trp Uncertain significance Single submitter
- CKMT2 p.Arg341Cys Uncertain significance Single submitter
- CKMT2 p.Asp366Val Uncertain significance Single submitter
- CKMT2 p.Glu293Val Uncertain significance Single submitter
- CKMT2 p.Gly328Ser Uncertain significance Single submitter
- CKMT2 p.Ile376Thr Uncertain significance Single submitter
- CKMT2 p.Ile388Phe Uncertain significance Single submitter
- CKMT2 p.Phe48Leu Uncertain significance Single submitter
- CKMT2 p.Ser211Phe Uncertain significance Single submitter
- CKMT2 p.Thr214Met Uncertain significance Single submitter
- CKMT2 p.Thr86Met Uncertain significance Single submitter
- CKMT2 p.Val191Met Uncertain significance Single submitter
All CKMT2 variants
Likely benign 1
- p.Gln152His Single submitter
Uncertain significance 66
- c.352-3C>T Single submitter
- p.Ala14Val Single submitter ⚠
- p.Ala363Thr Single submitter
- p.Ala71Val Single submitter ⚠
- p.Arg12Cys Single submitter ⚠
- p.Arg12His Single submitter ⚠
- p.Arg12Ser Single submitter ⚠
- p.Arg166Cys Single submitter ⚠
- p.Arg169His Single submitter ⚠
- p.Arg172Cys Single submitter ⚠
- p.Arg182Trp Single submitter ⚠
- p.Arg185Gln Single submitter ⚠
- p.Arg220Gly Single submitter ⚠
- p.Arg270Ser Single submitter ⚠
- p.Arg282Gln Single submitter ⚠
- p.Arg282Leu Single submitter ⚠
- p.Arg296Trp Single submitter ⚠
- p.Arg310Cys Single submitter
- p.Arg310His Single submitter ⚠
- p.Arg341Cys Single submitter ⚠
- p.Arg341His Single submitter
- p.Arg354Cys Single submitter ⚠
- p.Arg378Gln Single submitter ⚠
- p.Arg403Thr Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg58Cys Single submitter ⚠
- p.Arg77Cys Single submitter ⚠
- p.Arg77His Single submitter ⚠
- p.Asn97Lys Single submitter ⚠
- p.Asp224Gly Single submitter ⚠
- p.Asp366Val Single submitter ⚠
- p.Asp389Asn Single submitter ⚠
- p.Cys90Arg Single submitter ⚠
- p.Gln44Glu Single submitter ⚠
- p.Glu157Lys Single submitter ⚠
- p.Glu293Val Single submitter ⚠
- p.Gly29Arg Single submitter ⚠
- p.Gly322Val Single submitter ⚠
- p.Gly328Ser Single submitter ⚠
- p.Gly377Val Single submitter ⚠
- p.Ile193Val Single submitter ⚠
- p.Ile373Thr Single submitter ⚠
- p.Ile376Thr Single submitter ⚠
- p.Ile388Phe Single submitter ⚠
- p.Ile407Thr Single submitter ⚠
- p.Leu336Phe Single submitter ⚠
- p.Leu47Pro Single submitter ⚠
- p.Lys408Met Single submitter ⚠
- p.Phe48Leu Single submitter ⚠
- p.Pro234Leu Single submitter ⚠
- p.Pro411Leu Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Ser15Phe Single submitter ⚠
- p.Ser211Phe Single submitter ⚠
- p.Ser24Gly Single submitter ⚠
- p.Ser371Tyr Single submitter ⚠
- p.Thr194Ala Single submitter ⚠
- p.Thr214Met Single submitter ⚠
- p.Thr86Met Single submitter ⚠
- p.Tyr116Cys Single submitter ⚠
- p.Tyr159His Single submitter ⚠
- p.Tyr313Cys Single submitter ⚠
- p.Val106Ala Single submitter ⚠
- p.Val160Met Single submitter ⚠
- p.Val191Met Single submitter ⚠
- p.Val331Ile Single submitter ⚠