ERVFRD-1 — 41 ClinVar variants
All ClinVar germline ERVFRD-1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
1 Likely benign · 40 Uncertain significance
Full ERVFRD-1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERVFRD-1 p.Ala15Val Uncertain significance Single submitter
- ERVFRD-1 p.Ala210Gly Uncertain significance Single submitter
- ERVFRD-1 p.Ala225Val Uncertain significance Single submitter
- ERVFRD-1 p.Ala70Val Uncertain significance Single submitter
- ERVFRD-1 p.Arg104Cys Uncertain significance Single submitter
- ERVFRD-1 p.Arg104His Uncertain significance Single submitter
- ERVFRD-1 p.Arg167Cys Uncertain significance Single submitter
- ERVFRD-1 p.Arg18His Uncertain significance Single submitter
- ERVFRD-1 p.Arg191Trp Uncertain significance Single submitter
- ERVFRD-1 p.Arg196His Uncertain significance Single submitter
- ERVFRD-1 p.Arg234Gln Uncertain significance Single submitter
- ERVFRD-1 p.Arg63Lys Uncertain significance Single submitter
- ERVFRD-1 p.Asn116Ser Uncertain significance Single submitter
- ERVFRD-1 p.Asp21Tyr Uncertain significance Single submitter
- ERVFRD-1 p.Asp79Tyr Uncertain significance Single submitter
- ERVFRD-1 p.Gly2Asp Uncertain significance Single submitter
- ERVFRD-1 p.Ile103Thr Uncertain significance Single submitter
- ERVFRD-1 p.Ile117Thr Uncertain significance Single submitter
- ERVFRD-1 p.Ile262Thr Uncertain significance Single submitter
- ERVFRD-1 p.Ile269Thr Uncertain significance Single submitter
- ERVFRD-1 p.Ile68Thr Uncertain significance Single submitter
- ERVFRD-1 p.Met120Lys Uncertain significance Single submitter
- ERVFRD-1 p.Met128Lys Uncertain significance Single submitter
- ERVFRD-1 p.Phe207Ser Uncertain significance Single submitter
- ERVFRD-1 p.Pro107Ser Uncertain significance Single submitter
- ERVFRD-1 p.Pro175Ser Uncertain significance Single submitter
- ERVFRD-1 p.Ser199Leu Uncertain significance Single submitter
- ERVFRD-1 p.Ser61Leu Uncertain significance Single submitter
- ERVFRD-1 p.Thr157Ile Uncertain significance Single submitter
- ERVFRD-1 p.Trp78Gly Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- ERVFRD-1 p.Gly134Arg Uncertain significance Single submitter
- ERVFRD-1 p.Gly134Val Uncertain significance Single submitter
- ERVFRD-1 p.Gly488Val Uncertain significance Single submitter
- ERVFRD-1 p.Ile125Thr Uncertain significance Single submitter
- ERVFRD-1 p.Leu185Trp Uncertain significance Single submitter
- ERVFRD-1 p.Leu257Ser Uncertain significance Single submitter
- ERVFRD-1 p.Phe100Leu Uncertain significance Single submitter
- ERVFRD-1 p.Pro141Thr Uncertain significance Single submitter
- ERVFRD-1 p.Pro181Ser Uncertain significance Single submitter
- ERVFRD-1 p.Thr11Met Uncertain significance Single submitter
All ERVFRD-1 variants
Likely benign 1
- p.Val254Ile Single submitter
Uncertain significance 40
- p.Ala15Val Single submitter ⚠
- p.Ala210Gly Single submitter ⚠
- p.Ala225Val Single submitter ⚠
- p.Ala70Val Single submitter ⚠
- p.Arg104Cys Single submitter ⚠
- p.Arg104His Single submitter ⚠
- p.Arg167Cys Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg191Trp Single submitter ⚠
- p.Arg196His Single submitter ⚠
- p.Arg234Gln Single submitter ⚠
- p.Arg63Lys Single submitter ⚠
- p.Asn116Ser Single submitter ⚠
- p.Asp21Tyr Single submitter ⚠
- p.Asp79Tyr Single submitter ⚠
- p.Gly134Arg Single submitter ⚠
- p.Gly134Val Single submitter ⚠
- p.Gly2Asp Single submitter ⚠
- p.Gly488Val Single submitter ⚠
- p.Ile103Thr Single submitter ⚠
- p.Ile117Thr Single submitter ⚠
- p.Ile125Thr Single submitter ⚠
- p.Ile262Thr Single submitter ⚠
- p.Ile269Thr Single submitter ⚠
- p.Ile68Thr Single submitter ⚠
- p.Leu185Trp Single submitter ⚠
- p.Leu257Ser Single submitter ⚠
- p.Met120Lys Single submitter ⚠
- p.Met128Lys Single submitter ⚠
- p.Phe100Leu Single submitter ⚠
- p.Phe207Ser Single submitter ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro141Thr Single submitter ⚠
- p.Pro175Ser Single submitter ⚠
- p.Pro181Ser Single submitter ⚠
- p.Ser199Leu Single submitter ⚠
- p.Ser61Leu Single submitter ⚠
- p.Thr11Met Single submitter ⚠
- p.Thr157Ile Single submitter ⚠
- p.Trp78Gly Single submitter ⚠