PML — 136 ClinVar variants
All ClinVar germline PML variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →
11 Benign · 1 Benign/Likely benign · 18 Likely benign · 106 Uncertain significance
Full PML 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 90
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PML p.Ala259Val Uncertain significance Single submitter
- PML p.Ala313Thr Uncertain significance Single submitter
- PML p.Ala407Val Uncertain significance Single submitter
- PML p.Ala427Thr Uncertain significance Single submitter
- PML p.Ala449Val Uncertain significance Single submitter
- PML p.Ala549Asp Uncertain significance Single submitter
- PML p.Ala766Val Uncertain significance Single submitter
- PML p.Ala840Ser Uncertain significance Single submitter
- PML p.Ala845Thr Uncertain significance Single submitter
- PML p.Arg284His Uncertain significance Single submitter
- PML p.Arg353His Uncertain significance Single submitter
- PML p.Arg503Gln Uncertain significance Single submitter
- PML p.Arg503Trp Uncertain significance Single submitter
- PML p.Arg56Cys Uncertain significance Single submitter
- PML p.Arg594Ser Uncertain significance Single submitter
- PML p.Arg608Ser Uncertain significance Single submitter
- PML p.Arg637Cys Uncertain significance Single submitter
- PML p.Arg637His Uncertain significance Single submitter
- PML p.Arg671His Uncertain significance Single submitter
- PML p.Arg696Ser Uncertain significance Single submitter
- PML p.Arg792Gln Uncertain significance Single submitter
- PML p.Arg796Cys Uncertain significance Single submitter
- PML p.Arg7Leu Uncertain significance Single submitter
- PML p.Arg813Cys Uncertain significance Single submitter
- PML p.Arg816Gln Uncertain significance Single submitter
- PML p.Asn569Tyr Uncertain significance Single submitter
- PML p.Asn686His Uncertain significance Single submitter
- PML p.Cys212Tyr Uncertain significance Single submitter
- PML p.Gln245Arg Uncertain significance Single submitter
- PML p.Gln285His Uncertain significance Single submitter
- PML p.Gln293Leu Uncertain significance Single submitter
- PML p.Gln324Arg Uncertain significance Single submitter
- PML p.Gln343Arg Uncertain significance Single submitter
- PML p.Gln392Lys Uncertain significance Single submitter
- PML p.Gln731Arg Uncertain significance Single submitter
- PML p.Glu296Gln Uncertain significance Single submitter
- PML p.Glu299Lys Uncertain significance Single submitter
- PML p.Glu31Lys Uncertain significance Single submitter
- PML p.Glu420Lys Uncertain significance Single submitter
- PML p.Glu507Lys Uncertain significance Single submitter
- PML p.Glu702Gln Uncertain significance Single submitter
- PML p.Glu740Lys Uncertain significance Single submitter
- PML p.Gly255Asp Uncertain significance Single submitter
- PML p.Gly461Ala Uncertain significance Single submitter
- PML p.Gly550Glu Uncertain significance Single submitter
- PML p.Gly720Arg Uncertain significance Single submitter
- PML p.Gly818Glu Uncertain significance Single submitter
- PML p.Gly85Ala Uncertain significance Single submitter
- PML p.His521Pro Uncertain significance Single submitter
- PML p.His661Tyr Uncertain significance Single submitter
- PML p.Ile624Val Uncertain significance Single submitter
- PML p.Ile694Asn Uncertain significance Single submitter
- PML p.Leu211Gln Uncertain significance Single submitter
- PML p.Leu679Pro Uncertain significance Single submitter
- PML p.Leu829Arg Uncertain significance Single submitter
- PML p.Lys821Arg Uncertain significance Single submitter
- PML p.Met348Val Uncertain significance Single submitter
- PML p.Met491Leu Uncertain significance Single submitter
- PML p.Met744Lys Uncertain significance Single submitter
- PML p.Met750Val Uncertain significance Single submitter
- PML p.Pro25Thr Uncertain significance Single submitter
- PML p.Pro41Ser Uncertain significance Single submitter
- PML p.Pro603Arg Uncertain significance Single submitter
- PML p.Pro642Ser Uncertain significance Single submitter
- PML p.Pro761Ala Uncertain significance Single submitter
- PML p.Pro761Leu Uncertain significance Single submitter
- PML p.Pro835Leu Uncertain significance Single submitter
- PML p.Pro839Ala Uncertain significance Single submitter
- PML p.Ser111Thr Uncertain significance Single submitter
- PML p.Ser230Asn Uncertain significance Single submitter
- PML p.Ser388Cys Uncertain significance Single submitter
- PML p.Ser48Leu Uncertain significance Single submitter
- PML p.Ser493Thr Uncertain significance Single submitter
- PML p.Ser570Ala Uncertain significance Single submitter
- PML p.Ser583Gly Uncertain significance Single submitter
- PML p.Ser583Thr Uncertain significance Single submitter
- PML p.Ser654Pro Uncertain significance Single submitter
- PML p.Ser705Leu Uncertain significance Single submitter
- PML p.Ser84Ala Uncertain significance Single submitter
- PML p.Thr196Asn Uncertain significance Single submitter
- PML p.Thr833Met Uncertain significance Single submitter
- PML p.Thr848Ser Uncertain significance Single submitter
- PML p.Tyr649Cys Uncertain significance Single submitter
- PML p.Tyr826Cys Uncertain significance Single submitter
- PML p.Val287Ile Uncertain significance Single submitter
- PML p.Val301Ala Uncertain significance Single submitter
- PML p.Val333Gly Uncertain significance Single submitter
- PML p.Val371Leu Uncertain significance Single submitter
- PML p.Val653Leu Uncertain significance Single submitter
- PML p.Val653Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- PML p.Arg307Cys Uncertain significance Single submitter
- PML p.Arg715Trp Uncertain significance Single submitter
- PML p.Arg814Cys Uncertain significance Single submitter
- PML p.Asp302Val Uncertain significance Single submitter
- PML p.Ile122Thr Uncertain significance Single submitter
- PML p.Leu726Phe Uncertain significance Single submitter
- PML p.Met261Thr Uncertain significance Single submitter
- PML p.Phe108Val Uncertain significance Single submitter
- PML p.Trp680Arg Uncertain significance Single submitter
-
PML p.Val345Met
Uncertain significance
Single submitter
PML-related disorder
-
PML p.Arg755Pro
Uncertain significance
No assertion criteria
breast ductal adenocarcinoma
All PML variants
Benign 11
- c.1710+1245A>G Multiple submitters
- c.1710+1270G>T Multiple submitters
- c.1710+1705A>G Multiple submitters
- c.1710+813G>A Multiple submitters
- p.Ala675= Multiple submitters
- p.Pro761= Multiple submitters
- c.1710+1227G>A Single submitter
- c.1710+948C>T Single submitter
- p.Ala264= Single submitter
- p.Ala549Thr Single submitter
- p.Thr28Pro Single submitter
Benign/Likely benign 1
- p.Pro791= Multiple submitters
Likely benign 18
- p.Arg291Gln Single submitter
- p.Arg315Gln Single submitter
- p.Arg358= Single submitter
- p.Arg670His Single submitter
- p.Arg861Gln Single submitter
- p.Arg872His Single submitter
- p.Asp415= Single submitter
- p.Ile533Val Single submitter
- p.Val556Ile Single submitter
- c.1710+1029G>A No assertion criteria PML-related disorder
- c.1710+1335G>C No assertion criteria PML-related disorder
- c.1710+1467G>A No assertion criteria PML-related disorder
- c.1710+685C>T No assertion criteria PML-related disorder
- c.1710+833C>T No assertion criteria PML-related disorder
- p.Ala837Thr No assertion criteria PML-related disorder
- p.Asp179= No assertion criteria PML-related disorder
- p.Leu383= No assertion criteria PML-related disorder
- p.Lys725Arg No assertion criteria PML-related disorder
Uncertain significance 106
- c.1710+1152C>T Single submitter PML-related disorder
- c.1710+675TCCTCGCCAGCCCAC[2] Single submitter PML-related disorder
- c.1710+98G>A Single submitter PML-related disorder
- p.Ala259Val Single submitter ⚠
- p.Ala313Thr Single submitter ⚠
- p.Ala407Val Single submitter ⚠
- p.Ala427Thr Single submitter ⚠
- p.Ala449Val Single submitter ⚠
- p.Ala549Asp Single submitter ⚠
- p.Ala766Val Single submitter ⚠
- p.Ala840Ser Single submitter ⚠
- p.Ala845Thr Single submitter ⚠
- p.Arg284His Single submitter ⚠
- p.Arg307Cys Single submitter ⚠
- p.Arg353His Single submitter ⚠
- p.Arg503Gln Single submitter ⚠
- p.Arg503Trp Single submitter ⚠
- p.Arg56Cys Single submitter ⚠
- p.Arg594Ser Single submitter ⚠
- p.Arg608Ser Single submitter ⚠
- p.Arg637Cys Single submitter ⚠
- p.Arg637His Single submitter ⚠
- p.Arg671His Single submitter ⚠
- p.Arg696Ser Single submitter ⚠
- p.Arg715Trp Single submitter ⚠
- p.Arg751Cys Single submitter
- p.Arg792Gln Single submitter ⚠
- p.Arg796Cys Single submitter ⚠
- p.Arg7Leu Single submitter ⚠
- p.Arg813Cys Single submitter ⚠
- p.Arg814Cys Single submitter ⚠
- p.Arg816Gln Single submitter ⚠
- p.Asn569Tyr Single submitter ⚠
- p.Asn686His Single submitter ⚠
- p.Asp302Val Single submitter ⚠
- p.Cys212Tyr Single submitter ⚠
- p.Gln245Arg Single submitter ⚠
- p.Gln285His Single submitter ⚠
- p.Gln293Leu Single submitter ⚠
- p.Gln324Arg Single submitter ⚠
- p.Gln343Arg Single submitter ⚠
- p.Gln392Lys Single submitter ⚠
- p.Gln731Arg Single submitter ⚠
- p.Glu296Gln Single submitter ⚠
- p.Glu299Lys Single submitter ⚠
- p.Glu31Lys Single submitter ⚠
- p.Glu420Lys Single submitter ⚠
- p.Glu507Lys Single submitter ⚠
- p.Glu702Gln Single submitter ⚠
- p.Glu740Lys Single submitter ⚠
- p.Gly255Asp Single submitter ⚠
- p.Gly461Ala Single submitter ⚠
- p.Gly550Glu Single submitter ⚠
- p.Gly720Arg Single submitter ⚠
- p.Gly818Glu Single submitter ⚠
- p.Gly85Ala Single submitter ⚠
- p.His521Pro Single submitter ⚠
- p.His661Tyr Single submitter ⚠
- p.Ile122Thr Single submitter ⚠
- p.Ile624Val Single submitter ⚠
- p.Ile694Asn Single submitter ⚠
- p.Leu211Gln Single submitter ⚠
- p.Leu679Pro Single submitter ⚠
- p.Leu726Phe Single submitter ⚠
- p.Leu829Arg Single submitter ⚠
- p.Lys821Arg Single submitter ⚠
- p.Met261Thr Single submitter ⚠
- p.Met348Val Single submitter ⚠
- p.Met491Leu Single submitter ⚠
- p.Met744Lys Single submitter ⚠
- p.Met750Val Single submitter ⚠
- p.Phe108Val Single submitter ⚠
- p.Pro25Thr Single submitter ⚠
- p.Pro41Ser Single submitter ⚠
- p.Pro603Arg Single submitter ⚠
- p.Pro642Ser Single submitter ⚠
- p.Pro761Ala Single submitter ⚠
- p.Pro761Leu Single submitter ⚠
- p.Pro835Leu Single submitter ⚠
- p.Pro839Ala Single submitter ⚠
- p.Ser111Thr Single submitter ⚠
- p.Ser230Asn Single submitter ⚠
- p.Ser314fs Single submitter
- p.Ser388Cys Single submitter ⚠
- p.Ser48Leu Single submitter ⚠
- p.Ser493Thr Single submitter ⚠
- p.Ser570Ala Single submitter ⚠
- p.Ser583Gly Single submitter ⚠
- p.Ser583Thr Single submitter ⚠
- p.Ser654Pro Single submitter ⚠
- p.Ser705Leu Single submitter ⚠
- p.Ser84Ala Single submitter ⚠
- p.Thr196Asn Single submitter ⚠
- p.Thr833Met Single submitter ⚠
- p.Thr848Ser Single submitter ⚠
- p.Trp680Arg Single submitter ⚠
- p.Tyr649Cys Single submitter ⚠
- p.Tyr826Cys Single submitter ⚠
- p.Val287Ile Single submitter ⚠
- p.Val301Ala Single submitter ⚠
- p.Val333Gly Single submitter ⚠
- p.Val345Met Single submitter PML-related disorder ⚠
- p.Val371Leu Single submitter ⚠
- p.Val653Leu Single submitter ⚠
- p.Val653Met Single submitter ⚠
- p.Arg755Pro No assertion criteria breast ductal adenocarcinoma ⚠