PKM — 56 ClinVar variants
All ClinVar germline PKM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
5 Benign · 6 Likely benign · 45 Uncertain significance
Full PKM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PKM p.Ala419Val Uncertain significance Single submitter
- PKM p.Ala8Thr Uncertain significance Single submitter
- PKM p.Ala99Gly Uncertain significance Single submitter
- PKM p.Arg278Trp Uncertain significance Single submitter
- PKM p.Arg316Gln Uncertain significance Single submitter
- PKM p.Arg319Gln Uncertain significance Single submitter
- PKM p.Arg339Cys Uncertain significance Single submitter
- PKM p.Arg399His Uncertain significance Single submitter
- PKM p.Arg445His Uncertain significance Single submitter
- PKM p.Arg92His Uncertain significance Single submitter
- PKM p.Asp236Asn Uncertain significance Single submitter
- PKM p.Gln227Lys Uncertain significance Single submitter
- PKM p.Gly208Val Uncertain significance Single submitter
- PKM p.Gly345Ser Uncertain significance Single submitter
- PKM p.Ile65Val Uncertain significance Single submitter
- PKM p.Leu488Pro Uncertain significance Single submitter
- PKM p.Met64Ile Uncertain significance Single submitter
- PKM p.Phe76Ser Uncertain significance Single submitter
- PKM p.Pro371His Uncertain significance Single submitter
- PKM p.Ser172Asn Uncertain significance Single submitter
- PKM p.Thr143Met Uncertain significance Single submitter
- PKM p.Thr454Pro Uncertain significance Single submitter
- PKM p.Val108Ile Uncertain significance Single submitter
- PKM p.Val430Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- PKM p.Ile265Val Uncertain significance Multiple submitters
- PKM p.Arg106Gln Uncertain significance Single submitter
- PKM p.Arg32Cys Uncertain significance Single submitter
- PKM p.Arg376Cys Uncertain significance Single submitter
- PKM p.Arg399Cys Uncertain significance Single submitter
- PKM p.Arg400Leu Uncertain significance Single submitter
- PKM p.Asp250Ala Uncertain significance Single submitter
- PKM p.Gln227Arg Uncertain significance Single submitter
- PKM p.Ile164Phe Uncertain significance Single submitter
- PKM p.Leu183Phe Uncertain significance Single submitter
- PKM p.Lys115Glu Uncertain significance Single submitter
- PKM p.Pro531Leu Uncertain significance Single submitter
- PKM p.Ser249Phe Uncertain significance Single submitter
- PKM p.Ser420Ala Uncertain significance Single submitter
- PKM p.Ser425Ile Uncertain significance Single submitter
- PKM p.Tyr148Asn Uncertain significance Single submitter
- PKM p.Val530Ala Uncertain significance Single submitter
- PKM p.Val58Met Uncertain significance Single submitter
All PKM variants
Benign 5
- p.Asn146= Multiple submitters
- p.Leu203= Multiple submitters
- p.Thr143= Multiple submitters
- c.-14+142C>G Single submitter
- p.Ala242= Single submitter
Likely benign 6
Uncertain significance 45
- p.Ile265Val Multiple submitters ⚠
- p.Ala419Val Single submitter ⚠
- p.Ala8Thr Single submitter ⚠
- p.Ala99Gly Single submitter ⚠
- p.Arg106Gln Single submitter ⚠
- p.Arg278Trp Single submitter ⚠
- p.Arg316Gln Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Arg32Cys Single submitter ⚠
- p.Arg339Cys Single submitter ⚠
- p.Arg376Cys Single submitter ⚠
- p.Arg399Cys Single submitter ⚠
- p.Arg399His Single submitter ⚠
- p.Arg400Leu Single submitter ⚠
- p.Arg445His Single submitter ⚠
- p.Arg516His Single submitter
- p.Arg92His Single submitter ⚠
- p.Asp101His Single submitter
- p.Asp236Asn Single submitter ⚠
- p.Asp250Ala Single submitter ⚠
- p.Gln227Arg Single submitter ⚠
- p.Gln227Lys Single submitter ⚠
- p.Gly208Val Single submitter ⚠
- p.Gly345Ser Single submitter ⚠
- p.Ile164Phe Single submitter ⚠
- p.Ile181Val Single submitter
- p.Ile65Val Single submitter ⚠
- p.Leu183Phe Single submitter ⚠
- p.Leu488Pro Single submitter ⚠
- p.Lys115Glu Single submitter ⚠
- p.Met64Ile Single submitter ⚠
- p.Phe76Ser Single submitter ⚠
- p.Pro371His Single submitter ⚠
- p.Pro531Leu Single submitter ⚠
- p.Ser172Asn Single submitter ⚠
- p.Ser249Phe Single submitter ⚠
- p.Ser420Ala Single submitter ⚠
- p.Ser425Ile Single submitter ⚠
- p.Thr143Met Single submitter ⚠
- p.Thr454Pro Single submitter ⚠
- p.Tyr148Asn Single submitter ⚠
- p.Val108Ile Single submitter ⚠
- p.Val430Ile Single submitter ⚠
- p.Val530Ala Single submitter ⚠
- p.Val58Met Single submitter ⚠