PFDN2 — 24 ClinVar variants
All ClinVar germline PFDN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
24 Uncertain significance
Full PFDN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PFDN2 p.Ala20Val Uncertain significance Single submitter
- PFDN2 p.Ala28Val Uncertain significance Single submitter
- PFDN2 p.Arg119Trp Uncertain significance Single submitter
- PFDN2 p.Arg68Cys Uncertain significance Single submitter
- PFDN2 p.Arg68His Uncertain significance Single submitter
- PFDN2 p.Arg7Cys Uncertain significance Single submitter
- PFDN2 p.Arg7His Uncertain significance Single submitter
- PFDN2 p.Asn138Ser Uncertain significance Single submitter
- PFDN2 p.Asn31Ser Uncertain significance Single submitter
- PFDN2 p.Gln98Arg Uncertain significance Single submitter
- PFDN2 p.Glu3Asp Uncertain significance Single submitter
- PFDN2 p.Gly17Glu Uncertain significance Single submitter
- PFDN2 p.Gly6Ser Uncertain significance Single submitter
- PFDN2 p.Gly9Arg Uncertain significance Single submitter
- PFDN2 p.Gly9Asp Uncertain significance Single submitter
- PFDN2 p.His122Tyr Uncertain significance Single submitter
- PFDN2 p.Lys84Arg Uncertain significance Single submitter
- PFDN2 p.Ser5Gly Uncertain significance Single submitter
- PFDN2 p.Ser5Thr Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PFDN2 variants
Uncertain significance 24
- p.Ala20Val Single submitter ⚠
- p.Ala28Val Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg68Cys Single submitter ⚠
- p.Arg68His Single submitter ⚠
- p.Arg7Cys Single submitter ⚠
- p.Arg7His Single submitter ⚠
- p.Asn138Ser Single submitter ⚠
- p.Asn31Ser Single submitter ⚠
- p.Gln98Arg Single submitter ⚠
- p.Glu24Ala Single submitter ⚠
- p.Glu3Asp Single submitter ⚠
- p.Gly13Trp Single submitter ⚠
- p.Gly17Glu Single submitter ⚠
- p.Gly39Asp Single submitter ⚠
- p.Gly6Ser Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.Gly9Asp Single submitter ⚠
- p.His122Tyr Single submitter ⚠
- p.Lys84Arg Single submitter ⚠
- p.Pro133Leu Single submitter ⚠
- p.Ser5Gly Single submitter ⚠
- p.Ser5Thr Single submitter ⚠