PM20D2 — 36 ClinVar variants
All ClinVar germline PM20D2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
2 Likely benign · 34 Uncertain significance
Full PM20D2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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.
- PM20D2 p.Asp183Glu Uncertain significance Multiple submitters
- PM20D2 p.Ala195Thr Uncertain significance Single submitter
- PM20D2 p.Arg276His Uncertain significance Single submitter
- PM20D2 p.Arg276Leu Uncertain significance Single submitter
- PM20D2 p.Asn320Ser Uncertain significance Single submitter
- PM20D2 p.Asp342Gly Uncertain significance Single submitter
- PM20D2 p.Glu193Gly Uncertain significance Single submitter
- PM20D2 p.Glu306Asp Uncertain significance Single submitter
- PM20D2 p.Glu436Gln Uncertain significance Single submitter
- PM20D2 p.Gly355Arg Uncertain significance Single submitter
- PM20D2 p.His216Leu Uncertain significance Single submitter
- PM20D2 p.His216Tyr Uncertain significance Single submitter
- PM20D2 p.Leu375Phe Uncertain significance Single submitter
- PM20D2 p.Leu414Phe Uncertain significance Single submitter
- PM20D2 p.Lys288Glu Uncertain significance Single submitter
- PM20D2 p.Met187Val Uncertain significance Single submitter
- PM20D2 p.Phe422Leu Uncertain significance Single submitter
- PM20D2 p.Phe431Leu Uncertain significance Single submitter
- PM20D2 p.Ser215Tyr Uncertain significance Single submitter
- PM20D2 p.Thr352Met Uncertain significance Single submitter
- PM20D2 p.Val184Ile Uncertain significance Single submitter
- PM20D2 p.Val260Ile Uncertain significance Single submitter
- PM20D2 p.Val260Leu Uncertain significance Single submitter
- PM20D2 p.Val408Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PM20D2 variants
Likely benign 2
- p.Gln430Glu Single submitter
- p.Phe241Leu Single submitter
Uncertain significance 34
- p.Asp183Glu Multiple submitters ⚠
- p.Ala195Thr Single submitter ⚠
- p.Ala218Thr Single submitter
- p.Arg276His Single submitter ⚠
- p.Arg276Leu Single submitter ⚠
- p.Arg396Trp Single submitter ⚠
- p.Asn320Ser Single submitter ⚠
- p.Asn376Thr Single submitter ⚠
- p.Asp342Gly Single submitter ⚠
- p.Glu193Gly Single submitter ⚠
- p.Glu306Asp Single submitter ⚠
- p.Glu436Gln Single submitter ⚠
- p.Gly355Arg Single submitter ⚠
- p.His216Leu Single submitter ⚠
- p.His216Tyr Single submitter ⚠
- p.Leu323Val Single submitter
- p.Leu375Phe Single submitter ⚠
- p.Leu414Phe Single submitter ⚠
- p.Lys288Glu Single submitter ⚠
- p.Met187Val Single submitter ⚠
- p.Phe422Leu Single submitter ⚠
- p.Phe431Leu Single submitter ⚠
- p.Pro247Arg Single submitter
- p.Ser215Tyr Single submitter ⚠
- p.Ser301Leu Single submitter ⚠
- p.Thr352Met Single submitter ⚠
- p.Thr378Ala Single submitter
- p.Val158Ala Single submitter
- p.Val184Ile Single submitter ⚠
- p.Val208Leu Single submitter ⚠
- p.Val260Gly Single submitter ⚠
- p.Val260Ile Single submitter ⚠
- p.Val260Leu Single submitter ⚠
- p.Val408Ile Single submitter ⚠