PKMYT1 — 107 ClinVar variants
All ClinVar germline PKMYT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →
1 Benign · 2 Likely benign · 104 Uncertain significance
Full PKMYT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 101
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 84
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PKMYT1 p.Ala208Thr Uncertain significance Single submitter
- PKMYT1 p.Ala287Ser Uncertain significance Single submitter
- PKMYT1 p.Ala348Val Uncertain significance Single submitter
- PKMYT1 p.Ala373Thr Uncertain significance Single submitter
- PKMYT1 p.Ala444Asp Uncertain significance Single submitter
- PKMYT1 p.Ala88Thr Uncertain significance Single submitter
- PKMYT1 p.Arg112Lys Uncertain significance Single submitter
- PKMYT1 p.Arg115Cys Uncertain significance Single submitter
- PKMYT1 p.Arg128His Uncertain significance Single submitter
- PKMYT1 p.Arg134Gln Uncertain significance Single submitter
- PKMYT1 p.Arg151Gln Uncertain significance Single submitter
- PKMYT1 p.Arg244Trp Uncertain significance Single submitter
- PKMYT1 p.Arg246Cys Uncertain significance Single submitter
- PKMYT1 p.Arg333His Uncertain significance Single submitter
- PKMYT1 p.Arg33Cys Uncertain significance Single submitter
- PKMYT1 p.Arg33His Uncertain significance Single submitter
- PKMYT1 p.Arg363Gln Uncertain significance Single submitter
- PKMYT1 p.Arg363Trp Uncertain significance Single submitter
- PKMYT1 p.Arg43Lys Uncertain significance Single submitter
- PKMYT1 p.Arg448Gln Uncertain significance Single submitter
- PKMYT1 p.Arg457Trp Uncertain significance Single submitter
- PKMYT1 p.Arg486Gln Uncertain significance Single submitter
- PKMYT1 p.Arg486Trp Uncertain significance Single submitter
- PKMYT1 p.Arg49Gln Uncertain significance Single submitter
- PKMYT1 p.Arg49Gly Uncertain significance Single submitter
- PKMYT1 p.Arg70Trp Uncertain significance Single submitter
- PKMYT1 p.Arg80Leu Uncertain significance Single submitter
- PKMYT1 p.Arg85Gln Uncertain significance Single submitter
- PKMYT1 p.Asn430Ser Uncertain significance Single submitter
- PKMYT1 p.Asp432Glu Uncertain significance Single submitter
- PKMYT1 p.Asp434His Uncertain significance Single submitter
- PKMYT1 p.Asp497Tyr Uncertain significance Single submitter
- PKMYT1 p.Gln280Glu Uncertain significance Single submitter
- PKMYT1 p.Gln314Arg Uncertain significance Single submitter
- PKMYT1 p.Gln76Glu Uncertain significance Single submitter
- PKMYT1 p.Glu123Gln Uncertain significance Single submitter
- PKMYT1 p.Glu257Asp Uncertain significance Single submitter
- PKMYT1 p.Glu331Lys Uncertain significance Single submitter
- PKMYT1 p.Glu493Gln Uncertain significance Single submitter
- PKMYT1 p.Glu90Lys Uncertain significance Single submitter
- PKMYT1 p.Gly133Ser Uncertain significance Single submitter
- PKMYT1 p.Gly212Val Uncertain significance Single submitter
- PKMYT1 p.Gly253Ala Uncertain significance Single submitter
- PKMYT1 p.Gly262Glu Uncertain significance Single submitter
- PKMYT1 p.Gly308Ser Uncertain significance Single submitter
- PKMYT1 p.Gly379Val Uncertain significance Single submitter
- PKMYT1 p.Gly396Arg Uncertain significance Single submitter
- PKMYT1 p.His167Gln Uncertain significance Single submitter
- PKMYT1 p.Leu183Pro Uncertain significance Single submitter
- PKMYT1 p.Leu185Pro Uncertain significance Single submitter
- PKMYT1 p.Leu219His Uncertain significance Single submitter
- PKMYT1 p.Leu241Met Uncertain significance Single submitter
- PKMYT1 p.Leu346Val Uncertain significance Single submitter
- PKMYT1 p.Leu422Arg Uncertain significance Single submitter
- PKMYT1 p.Leu51His Uncertain significance Single submitter
- PKMYT1 p.Lys130Arg Uncertain significance Single submitter
- PKMYT1 p.Lys149Arg Uncertain significance Single submitter
- PKMYT1 p.Lys149Asn Uncertain significance Single submitter
- PKMYT1 p.Met142Arg Uncertain significance Single submitter
- PKMYT1 p.Met338Thr Uncertain significance Single submitter
- PKMYT1 p.Met339Thr Uncertain significance Single submitter
- PKMYT1 p.Met371Leu Uncertain significance Single submitter
- PKMYT1 p.Pro11Leu Uncertain significance Single submitter
- PKMYT1 p.Pro144Arg Uncertain significance Single submitter
- PKMYT1 p.Pro168Ser Uncertain significance Single submitter
- PKMYT1 p.Pro18Leu Uncertain significance Single submitter
- PKMYT1 p.Pro243Ser Uncertain significance Single submitter
- PKMYT1 p.Pro413Arg Uncertain significance Single submitter
- PKMYT1 p.Pro418Leu Uncertain significance Single submitter
- PKMYT1 p.Pro442Leu Uncertain significance Single submitter
- PKMYT1 p.Pro54Leu Uncertain significance Single submitter
- PKMYT1 p.Pro5Leu Uncertain significance Single submitter
- PKMYT1 p.Pro62Ser Uncertain significance Single submitter
- PKMYT1 p.Ser22Cys Uncertain significance Single submitter
- PKMYT1 p.Ser429Ile Uncertain significance Single submitter
- PKMYT1 p.Ser452Asn Uncertain significance Single submitter
- PKMYT1 p.Thr187Met Uncertain significance Single submitter
- PKMYT1 p.Thr24Ala Uncertain significance Single submitter
- PKMYT1 p.Thr499Ala Uncertain significance Single submitter
- PKMYT1 p.Thr71Ile Uncertain significance Single submitter
- PKMYT1 p.Val171Leu Uncertain significance Single submitter
- PKMYT1 p.Val335Ile Uncertain significance Single submitter
- PKMYT1 p.Val337Ile Uncertain significance Single submitter
- PKMYT1 p.Val450Met Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- PKMYT1 p.Arg115His Uncertain significance Single submitter
- PKMYT1 p.Arg140His Uncertain significance Single submitter
- PKMYT1 p.Arg146Trp Uncertain significance Single submitter
- PKMYT1 p.Arg172Trp Uncertain significance Single submitter
- PKMYT1 p.Arg215Trp Uncertain significance Single submitter
- PKMYT1 p.Gly181Ser Uncertain significance Single submitter
- PKMYT1 p.Leu353Val Uncertain significance Single submitter
- PKMYT1 p.Leu382Pro Uncertain significance Single submitter
- PKMYT1 p.Phe106Leu Uncertain significance Single submitter
- PKMYT1 p.Phe32Leu Uncertain significance Single submitter
- PKMYT1 p.Phe492Leu Uncertain significance Single submitter
- PKMYT1 p.Phe84Leu Uncertain significance Single submitter
- PKMYT1 p.Pro206Leu Uncertain significance Single submitter
- PKMYT1 p.Ser402Asn Uncertain significance Single submitter
- PKMYT1 p.Thr349Met Uncertain significance Single submitter
- PKMYT1 p.Tyr283Cys Uncertain significance Single submitter
- PKMYT1 p.Tyr97Cys Uncertain significance Single submitter
All PKMYT1 variants
Benign 1
- p.Leu214= Multiple submitters
Likely benign 2
- p.Cys370Tyr Single submitter
- p.Thr217Met Single submitter
Uncertain significance 104
- p.Ala208Thr Single submitter ⚠
- p.Ala287Ser Single submitter ⚠
- p.Ala348Val Single submitter ⚠
- p.Ala373Thr Single submitter ⚠
- p.Ala444Asp Single submitter ⚠
- p.Ala88Thr Single submitter ⚠
- p.Arg112Lys Single submitter ⚠
- p.Arg115Cys Single submitter ⚠
- p.Arg115His Single submitter ⚠
- p.Arg128His Single submitter ⚠
- p.Arg134Gln Single submitter ⚠
- p.Arg140His Single submitter ⚠
- p.Arg146Trp Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg172Trp Single submitter ⚠
- p.Arg215Trp Single submitter ⚠
- p.Arg244Trp Single submitter ⚠
- p.Arg246Cys Single submitter ⚠
- p.Arg333His Single submitter ⚠
- p.Arg33Cys Single submitter ⚠
- p.Arg33His Single submitter ⚠
- p.Arg363Gln Single submitter ⚠
- p.Arg363Trp Single submitter ⚠
- p.Arg43Lys Single submitter ⚠
- p.Arg448Gln Single submitter ⚠
- p.Arg457Trp Single submitter ⚠
- p.Arg486Gln Single submitter ⚠
- p.Arg486Trp Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Arg49Gly Single submitter ⚠
- p.Arg70Trp Single submitter ⚠
- p.Arg80Leu Single submitter ⚠
- p.Arg85Gln Single submitter ⚠
- p.Asn430Ser Single submitter ⚠
- p.Asp432Glu Single submitter ⚠
- p.Asp434His Single submitter ⚠
- p.Asp497Tyr Single submitter ⚠
- p.Gln280Glu Single submitter ⚠
- p.Gln314Arg Single submitter ⚠
- p.Gln76Glu Single submitter ⚠
- p.Glu123Gln Single submitter ⚠
- p.Glu257Asp Single submitter ⚠
- p.Glu331Lys Single submitter ⚠
- p.Glu493Gln Single submitter ⚠
- p.Glu90Lys Single submitter ⚠
- p.Gly133Ser Single submitter ⚠
- p.Gly181Ser Single submitter ⚠
- p.Gly212Val Single submitter ⚠
- p.Gly253Ala Single submitter ⚠
- p.Gly262Glu Single submitter ⚠
- p.Gly308Ser Single submitter ⚠
- p.Gly379Val Single submitter ⚠
- p.Gly396Arg Single submitter ⚠
- p.His167Gln Single submitter ⚠
- p.Leu183Pro Single submitter ⚠
- p.Leu185Pro Single submitter ⚠
- p.Leu219His Single submitter ⚠
- p.Leu241Met Single submitter ⚠
- p.Leu328Arg Single submitter
- p.Leu346Val Single submitter ⚠
- p.Leu353Val Single submitter ⚠
- p.Leu382Pro Single submitter ⚠
- p.Leu422Arg Single submitter ⚠
- p.Leu51His Single submitter ⚠
- p.Lys130Arg Single submitter ⚠
- p.Lys149Arg Single submitter ⚠
- p.Lys149Asn Single submitter ⚠
- p.Met142Arg Single submitter ⚠
- p.Met338Thr Single submitter ⚠
- p.Met339Thr Single submitter ⚠
- p.Met371Leu Single submitter ⚠
- p.Phe106Leu Single submitter ⚠
- p.Phe32Leu Single submitter ⚠
- p.Phe492Leu Single submitter ⚠
- p.Phe84Leu Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro144Arg Single submitter ⚠
- p.Pro168Ser Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro206Leu Single submitter ⚠
- p.Pro236Ala Single submitter
- p.Pro243Ser Single submitter ⚠
- p.Pro413Arg Single submitter ⚠
- p.Pro418Leu Single submitter ⚠
- p.Pro442Leu Single submitter ⚠
- p.Pro54Leu Single submitter ⚠
- p.Pro5Leu Single submitter ⚠
- p.Pro62Ser Single submitter ⚠
- p.Ser22Cys Single submitter ⚠
- p.Ser402Asn Single submitter ⚠
- p.Ser429Ile Single submitter ⚠
- p.Ser452Asn Single submitter ⚠
- p.Thr187Met Single submitter ⚠
- p.Thr24Ala Single submitter ⚠
- p.Thr349Met Single submitter ⚠
- p.Thr499Ala Single submitter ⚠
- p.Thr71Ile Single submitter ⚠
- p.Tyr283Cys Single submitter ⚠
- p.Tyr97Cys Single submitter ⚠
- p.Val171Leu Single submitter ⚠
- p.Val171Met Single submitter
- p.Val335Ile Single submitter ⚠
- p.Val337Ile Single submitter ⚠
- p.Val450Met Single submitter ⚠