PGD — 57 ClinVar variants
All ClinVar germline PGD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
2 Benign · 2 Likely benign · 53 Uncertain significance
Full PGD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PGD p.Ala258Val Uncertain significance Single submitter
- PGD p.Ala336Pro Uncertain significance Single submitter
- PGD p.Ala345Gly Uncertain significance Single submitter
- PGD p.Arg407Gln Uncertain significance Single submitter
- PGD p.Asn354Ser Uncertain significance Single submitter
- PGD p.Asn354Tyr Uncertain significance Single submitter
- PGD p.Asp194Val Uncertain significance Single submitter
- PGD p.Asp207Glu Uncertain significance Single submitter
- PGD p.Asp214Glu Uncertain significance Single submitter
- PGD p.Gln158Pro Uncertain significance Single submitter
- PGD p.Gln311Leu Uncertain significance Single submitter
- PGD p.Glu148Asp Uncertain significance Single submitter
- PGD p.Gly364Glu Uncertain significance Single submitter
- PGD p.Gly365Asp Uncertain significance Single submitter
- PGD p.Ile233Val Uncertain significance Single submitter
- PGD p.Ile269Val Uncertain significance Single submitter
- PGD p.Ile368Met Uncertain significance Single submitter
- PGD p.Ile376Met Uncertain significance Single submitter
- PGD p.Ile72Phe Uncertain significance Single submitter
- PGD p.Leu240Phe Uncertain significance Single submitter
- PGD p.Lys253Arg Uncertain significance Single submitter
- PGD p.Lys375Arg Uncertain significance Single submitter
- PGD p.Lys66Arg Uncertain significance Single submitter
- PGD p.Lys87Asn Uncertain significance Single submitter
- PGD p.Met216Leu Uncertain significance Single submitter
- PGD p.Met420Ile Uncertain significance Single submitter
- PGD p.Phe182Leu Uncertain significance Single submitter
- PGD p.Phe429Ser Uncertain significance Single submitter
- PGD p.Pro68Ala Uncertain significance Single submitter
- PGD p.Ser140Leu Uncertain significance Single submitter
- PGD p.Ser301Gly Uncertain significance Single submitter
- PGD p.Thr245Asn Uncertain significance Single submitter
- PGD p.Trp351Ser Uncertain significance Single submitter
- PGD p.Tyr430Cys Uncertain significance Single submitter
- PGD p.Val164Met Uncertain significance Single submitter
- PGD p.Val371Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- PGD p.Ala149Gly Uncertain significance Single submitter
- PGD p.Glu348Lys Uncertain significance Single submitter
- PGD p.Gly314Asp Uncertain significance Single submitter
- PGD p.Leu458Phe Uncertain significance Single submitter
- PGD p.Met361Ile Uncertain significance Single submitter
- PGD p.Phe220Leu Uncertain significance Single submitter
- PGD p.Pro151Leu Uncertain significance Single submitter
- PGD p.Pro169Ser Uncertain significance Single submitter
- PGD p.Pro461Ser Uncertain significance Single submitter
- PGD p.Ser479Leu Uncertain significance Single submitter
- PGD p.Val476Glu Uncertain significance Single submitter
All PGD variants
Likely benign 2
- p.Tyr274= Single submitter
- p.Val410Ile Single submitter
Uncertain significance 53
- c.519+2C>T Single submitter
- p.Ala149Gly Single submitter ⚠
- p.Ala258Val Single submitter ⚠
- p.Ala336Pro Single submitter ⚠
- p.Ala345Gly Single submitter ⚠
- p.Arg407Gln Single submitter ⚠
- p.Asn354Ser Single submitter ⚠
- p.Asn354Tyr Single submitter ⚠
- p.Asp194Val Single submitter ⚠
- p.Asp207Glu Single submitter ⚠
- p.Asp214Glu Single submitter ⚠
- p.Gln158Pro Single submitter ⚠
- p.Gln311Leu Single submitter ⚠
- p.Glu148Asp Single submitter ⚠
- p.Glu348Lys Single submitter ⚠
- p.Gly314Asp Single submitter ⚠
- p.Gly364Glu Single submitter ⚠
- p.Gly365Asp Single submitter ⚠
- p.His25Gln Single submitter
- p.Ile233Val Single submitter ⚠
- p.Ile269Val Single submitter ⚠
- p.Ile368Met Single submitter ⚠
- p.Ile376Met Single submitter ⚠
- p.Ile72Phe Single submitter ⚠
- p.Leu240Phe Single submitter ⚠
- p.Leu458Phe Single submitter ⚠
- p.Lys163Glu Single submitter
- p.Lys253Arg Single submitter ⚠
- p.Lys375Arg Single submitter ⚠
- p.Lys66Arg Single submitter ⚠
- p.Lys87Asn Single submitter ⚠
- p.Met216Leu Single submitter ⚠
- p.Met361Ile Single submitter ⚠
- p.Met420Ile Single submitter ⚠
- p.Phe182Leu Single submitter ⚠
- p.Phe220Leu Single submitter ⚠
- p.Phe429Ser Single submitter ⚠
- p.Phe84Val Single submitter
- p.Pro151Leu Single submitter ⚠
- p.Pro169Ser Single submitter ⚠
- p.Pro461Ser Single submitter ⚠
- p.Pro68Ala Single submitter ⚠
- p.Ser104Ala Single submitter
- p.Ser140Leu Single submitter ⚠
- p.Ser301Gly Single submitter ⚠
- p.Ser37Pro Single submitter
- p.Ser479Leu Single submitter ⚠
- p.Thr245Asn Single submitter ⚠
- p.Trp351Ser Single submitter ⚠
- p.Tyr430Cys Single submitter ⚠
- p.Val164Met Single submitter ⚠
- p.Val371Leu Single submitter ⚠
- p.Val476Glu Single submitter ⚠