KMT5A — 8 ClinVar variants
All ClinVar germline KMT5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
4 Likely benign · 4 Uncertain significance
Full KMT5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll KMT5A variants
Likely benign 4
- c.11-243T>C Single submitter
- p.His246= Single submitter
- p.Asp240Ala No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Leu181fs No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 4
- c.-111-81del Single submitter
- p.Gln235Glu Single submitter
- p.Pro123His Single submitter
- c.290-3C>A No assertion criteria prostate cancer