CKMT1A — 27 ClinVar variants
All ClinVar germline CKMT1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
2 Likely benign · 25 Uncertain significance
Full CKMT1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CKMT1A p.Arg325Trp Uncertain significance Single submitter
- CKMT1A p.Arg349Thr Uncertain significance Single submitter
- CKMT1A p.Arg353His Uncertain significance Single submitter
- CKMT1A p.Arg353Leu Uncertain significance Single submitter
- CKMT1A p.Arg402Lys Uncertain significance Single submitter
- CKMT1A p.Arg407Cys Uncertain significance Single submitter
- CKMT1A p.Asp266Tyr Uncertain significance Single submitter
- CKMT1A p.Glu379Gly Uncertain significance Single submitter
- CKMT1A p.Gly327Ala Uncertain significance Single submitter
- CKMT1A p.Leu345Pro Uncertain significance Single submitter
- CKMT1A p.Pro411Ala Uncertain significance Single submitter
- CKMT1A p.Thr410Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- CKMT1A p.Arg285Lys Uncertain significance Single submitter
- CKMT1A p.Arg300Cys Uncertain significance Single submitter
- CKMT1A p.Arg340His Uncertain significance Single submitter
- CKMT1A p.Arg374Gln Uncertain significance Single submitter
- CKMT1A p.Arg399Cys Uncertain significance Single submitter
- CKMT1A p.Asp338Glu Uncertain significance Single submitter
- CKMT1A p.Asp395Asn Uncertain significance Single submitter
- CKMT1A p.Cys396Tyr Uncertain significance Single submitter
- CKMT1A p.Gly276Ser Uncertain significance Single submitter
- CKMT1A p.Gly365Cys Uncertain significance Single submitter
- CKMT1A p.Ile344Met Uncertain significance Single submitter
- CKMT1A p.Ile394Thr Uncertain significance Single submitter
- CKMT1A p.Tyr392Cys Uncertain significance Single submitter
All CKMT1A variants
Uncertain significance 25
- p.Arg285Lys Single submitter ⚠
- p.Arg300Cys Single submitter ⚠
- p.Arg325Trp Single submitter ⚠
- p.Arg340His Single submitter ⚠
- p.Arg349Thr Single submitter ⚠
- p.Arg353His Single submitter ⚠
- p.Arg353Leu Single submitter ⚠
- p.Arg374Gln Single submitter ⚠
- p.Arg399Cys Single submitter ⚠
- p.Arg402Lys Single submitter ⚠
- p.Arg407Cys Single submitter ⚠
- p.Asp266Tyr Single submitter ⚠
- p.Asp338Glu Single submitter ⚠
- p.Asp395Asn Single submitter ⚠
- p.Cys396Tyr Single submitter ⚠
- p.Glu379Gly Single submitter ⚠
- p.Gly276Ser Single submitter ⚠
- p.Gly327Ala Single submitter ⚠
- p.Gly365Cys Single submitter ⚠
- p.Ile344Met Single submitter ⚠
- p.Ile394Thr Single submitter ⚠
- p.Leu345Pro Single submitter ⚠
- p.Pro411Ala Single submitter ⚠
- p.Thr410Ile Single submitter ⚠
- p.Tyr392Cys Single submitter ⚠