CSKMT — 42 ClinVar variants
All ClinVar germline CSKMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Benign · 41 Uncertain significance
Full CSKMT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSKMT p.Ala31Thr Uncertain significance Single submitter
- CSKMT p.Ala71Thr Uncertain significance Single submitter
- CSKMT p.Arg38Gln Uncertain significance Single submitter
- CSKMT p.Arg44His Uncertain significance Single submitter
- CSKMT p.Asp107Asn Uncertain significance Single submitter
- CSKMT p.Gly105Trp Uncertain significance Single submitter
- CSKMT p.Gly224Arg Uncertain significance Single submitter
- CSKMT p.Gly83Ala Uncertain significance Single submitter
- CSKMT p.Gly85Arg Uncertain significance Single submitter
- CSKMT p.Leu188Arg Uncertain significance Single submitter
- CSKMT p.Leu63Phe Uncertain significance Single submitter
- CSKMT p.Leu77Val Uncertain significance Single submitter
- CSKMT p.Pro20Leu Uncertain significance Single submitter
- CSKMT p.Thr165Lys Uncertain significance Single submitter
- CSKMT p.Thr217Ser Uncertain significance Single submitter
- CSKMT p.Tyr178Cys Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- CSKMT p.Ala135Thr Uncertain significance Single submitter
- CSKMT p.Ala168Thr Uncertain significance Single submitter
- CSKMT p.Arg171Pro Uncertain significance Single submitter
- CSKMT p.Arg171Trp Uncertain significance Single submitter
- CSKMT p.Arg186Gly Uncertain significance Single submitter
- CSKMT p.Arg19Gly Uncertain significance Single submitter
- CSKMT p.Arg205Gln Uncertain significance Single submitter
- CSKMT p.Arg33Cys Uncertain significance Single submitter
- CSKMT p.Arg78Pro Uncertain significance Single submitter
- CSKMT p.Asp144Asn Uncertain significance Single submitter
- CSKMT p.Cys90Arg Uncertain significance Single submitter
- CSKMT p.Glu59Lys Uncertain significance Single submitter
- CSKMT p.Gly125Ala Uncertain significance Single submitter
- CSKMT p.His133Arg Uncertain significance Single submitter
- CSKMT p.Leu188Gln Uncertain significance Single submitter
- CSKMT p.Leu35Arg Uncertain significance Single submitter
- CSKMT p.Met116Arg Uncertain significance Single submitter
- CSKMT p.Met116Val Uncertain significance Single submitter
- CSKMT p.Pro190Ser Uncertain significance Single submitter
- CSKMT p.Pro225Leu Uncertain significance Single submitter
- CSKMT p.Pro66Ala Uncertain significance Single submitter
- CSKMT p.Ser118Asn Uncertain significance Single submitter
- CSKMT p.Ser118Ile Uncertain significance Single submitter
- CSKMT p.Thr86Ile Uncertain significance Single submitter
- CSKMT p.Val79Leu Uncertain significance Single submitter
All CSKMT variants
Benign 1
- p.Gln61Ter Single submitter
Uncertain significance 41
- p.Ala135Thr Single submitter ⚠
- p.Ala168Thr Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala71Thr Single submitter ⚠
- p.Arg171Pro Single submitter ⚠
- p.Arg171Trp Single submitter ⚠
- p.Arg186Gly Single submitter ⚠
- p.Arg19Gly Single submitter ⚠
- p.Arg205Gln Single submitter ⚠
- p.Arg33Cys Single submitter ⚠
- p.Arg38Gln Single submitter ⚠
- p.Arg44His Single submitter ⚠
- p.Arg78Pro Single submitter ⚠
- p.Asp107Asn Single submitter ⚠
- p.Asp144Asn Single submitter ⚠
- p.Cys90Arg Single submitter ⚠
- p.Glu59Lys Single submitter ⚠
- p.Gly105Trp Single submitter ⚠
- p.Gly125Ala Single submitter ⚠
- p.Gly224Arg Single submitter ⚠
- p.Gly83Ala Single submitter ⚠
- p.Gly85Arg Single submitter ⚠
- p.His133Arg Single submitter ⚠
- p.Leu188Arg Single submitter ⚠
- p.Leu188Gln Single submitter ⚠
- p.Leu35Arg Single submitter ⚠
- p.Leu63Phe Single submitter ⚠
- p.Leu77Val Single submitter ⚠
- p.Met116Arg Single submitter ⚠
- p.Met116Val Single submitter ⚠
- p.Pro190Ser Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro225Leu Single submitter ⚠
- p.Pro66Ala Single submitter ⚠
- p.Ser118Asn Single submitter ⚠
- p.Ser118Ile Single submitter ⚠
- p.Thr165Lys Single submitter ⚠
- p.Thr217Ser Single submitter ⚠
- p.Thr86Ile Single submitter ⚠
- p.Tyr178Cys Single submitter ⚠
- p.Val79Leu Single submitter ⚠