CKMT1B — 25 ClinVar variants
All ClinVar germline CKMT1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Benign · 1 Likely benign · 23 Uncertain significance
Full CKMT1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CKMT1B variants
Benign 1
- p.Arg399His Multiple submitters
Likely benign 1
- p.Gly365Ser Single submitter
Uncertain significance 23
- p.Ala241Ser Single submitter
- p.Arg248Cys Single submitter
- p.Arg269Trp Single submitter
- p.Arg288Gln Single submitter
- p.Arg309Cys Single submitter
- p.Arg374Gln Single submitter
- p.Arg407Cys Single submitter
- p.Arg407His Single submitter
- p.Asn391Lys Single submitter
- p.Asp388Asn Single submitter
- p.Asp388Tyr Single submitter
- p.Gly277Asp Single submitter
- p.Ile369Ser Single submitter
- p.Ile406Ser Single submitter
- p.Leu320Val Single submitter
- p.Lys275Arg Single submitter
- p.Lys352Thr Single submitter
- p.Met279Leu Single submitter
- p.Pro342Ser Single submitter
- p.Ser339Gly Single submitter
- p.Val293Met Single submitter
- p.Val358Ala Single submitter
- p.Val366Ala Single submitter