EDRF1 — 110 ClinVar variants
All ClinVar germline EDRF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →
4 Benign · 5 Likely benign · 101 Uncertain significance
Full EDRF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 100
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 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EDRF1 p.Ala1137Ser Uncertain significance Single submitter
- EDRF1 p.Ala1228Thr Uncertain significance Single submitter
- EDRF1 p.Ala226Ser Uncertain significance Single submitter
- EDRF1 p.Ala63Val Uncertain significance Single submitter
- EDRF1 p.Ala702Val Uncertain significance Single submitter
- EDRF1 p.Ala90Gly Uncertain significance Single submitter
- EDRF1 p.Arg1149Gln Uncertain significance Single submitter
- EDRF1 p.Arg19Gln Uncertain significance Single submitter
- EDRF1 p.Arg337Pro Uncertain significance Single submitter
- EDRF1 p.Asn214Ser Uncertain significance Single submitter
- EDRF1 p.Asn413Ser Uncertain significance Single submitter
- EDRF1 p.Asp120Tyr Uncertain significance Single submitter
- EDRF1 p.Asp258Val Uncertain significance Single submitter
- EDRF1 p.Asp430Val Uncertain significance Single submitter
- EDRF1 p.Asp544Asn Uncertain significance Single submitter
- EDRF1 p.Asp559Glu Uncertain significance Single submitter
- EDRF1 p.Asp954Asn Uncertain significance Single submitter
- EDRF1 p.Gln1020Leu Uncertain significance Single submitter
- EDRF1 p.Gln228Arg Uncertain significance Single submitter
- EDRF1 p.Gln27His Uncertain significance Single submitter
- EDRF1 p.Gln665Arg Uncertain significance Single submitter
- EDRF1 p.Glu524Gln Uncertain significance Single submitter
- EDRF1 p.Glu648Lys Uncertain significance Single submitter
- EDRF1 p.Glu651Lys Uncertain significance Single submitter
- EDRF1 p.Glu861Gly Uncertain significance Single submitter
- EDRF1 p.Glu872Lys Uncertain significance Single submitter
- EDRF1 p.Gly1224Ser Uncertain significance Single submitter
- EDRF1 p.Gly1229Ser Uncertain significance Single submitter
- EDRF1 p.Gly299Arg Uncertain significance Single submitter
- EDRF1 p.Gly37Glu Uncertain significance Single submitter
- EDRF1 p.Gly645Arg Uncertain significance Single submitter
- EDRF1 p.Gly667Asp Uncertain significance Single submitter
- EDRF1 p.Gly848Asp Uncertain significance Single submitter
- EDRF1 p.Gly933Ala Uncertain significance Single submitter
- EDRF1 p.His1046Asn Uncertain significance Single submitter
- EDRF1 p.His595Arg Uncertain significance Single submitter
- EDRF1 p.His770Arg Uncertain significance Single submitter
- EDRF1 p.Ile1158Met Uncertain significance Single submitter
- EDRF1 p.Ile213Val Uncertain significance Single submitter
- EDRF1 p.Ile481Val Uncertain significance Single submitter
- EDRF1 p.Ile676Thr Uncertain significance Single submitter
- EDRF1 p.Ile887Val Uncertain significance Single submitter
- EDRF1 p.Leu485Pro Uncertain significance Single submitter
- EDRF1 p.Lys1192Arg Uncertain significance Single submitter
- EDRF1 p.Met1111Val Uncertain significance Single submitter
- EDRF1 p.Met166Val Uncertain significance Single submitter
- EDRF1 p.Met454Val Uncertain significance Single submitter
- EDRF1 p.Pro13Arg Uncertain significance Single submitter
- EDRF1 p.Pro252Leu Uncertain significance Single submitter
- EDRF1 p.Pro455Leu Uncertain significance Single submitter
- EDRF1 p.Pro60Ser Uncertain significance Single submitter
- EDRF1 p.Pro89Gln Uncertain significance Single submitter
- EDRF1 p.Ser1060Asn Uncertain significance Single submitter
- EDRF1 p.Ser57Ala Uncertain significance Single submitter
- EDRF1 p.Ser84Gly Uncertain significance Single submitter
- EDRF1 p.Thr237Ile Uncertain significance Single submitter
- EDRF1 p.Thr746Arg Uncertain significance Single submitter
- EDRF1 p.Thr906Met Uncertain significance Single submitter
- EDRF1 p.Tyr1034Cys Uncertain significance Single submitter
- EDRF1 p.Tyr353Cys Uncertain significance Single submitter
- EDRF1 p.Tyr421Cys Uncertain significance Single submitter
- EDRF1 p.Tyr448Cys Uncertain significance Single submitter
- EDRF1 p.Tyr55Cys Uncertain significance Single submitter
- EDRF1 p.Tyr744Cys Uncertain significance Single submitter
- EDRF1 p.Val1218Ile Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- EDRF1 p.Ala1210Thr Uncertain significance Single submitter
- EDRF1 p.Ala203Thr Uncertain significance Single submitter
- EDRF1 p.Ala35Val Uncertain significance Single submitter
- EDRF1 p.Ala4Asp Uncertain significance Single submitter
- EDRF1 p.Ala988Val Uncertain significance Single submitter
- EDRF1 p.Arg1052Trp Uncertain significance Single submitter
- EDRF1 p.Arg926Pro Uncertain significance Single submitter
- EDRF1 p.Asn1207Ser Uncertain significance Single submitter
- EDRF1 p.Asn1207Tyr Uncertain significance Single submitter
- EDRF1 p.Asn937Tyr Uncertain significance Single submitter
- EDRF1 p.Asp115Glu Uncertain significance Single submitter
- EDRF1 p.Asp430Asn Uncertain significance Single submitter
- EDRF1 p.Asp446His Uncertain significance Single submitter
- EDRF1 p.Glu516Lys Uncertain significance Single submitter
- EDRF1 p.Glu736Lys Uncertain significance Single submitter
- EDRF1 p.Gly172Asp Uncertain significance Single submitter
- EDRF1 p.Ile1110Met Uncertain significance Single submitter
- EDRF1 p.Leu1166Phe Uncertain significance Single submitter
- EDRF1 p.Leu42Phe Uncertain significance Single submitter
- EDRF1 p.Leu460Phe Uncertain significance Single submitter
- EDRF1 p.Leu798Met Uncertain significance Single submitter
- EDRF1 p.Lys1180Asn Uncertain significance Single submitter
- EDRF1 p.Lys416Arg Uncertain significance Single submitter
- EDRF1 p.Met1033Ile Uncertain significance Single submitter
- EDRF1 p.Met468Ile Uncertain significance Single submitter
- EDRF1 p.Phe657Leu Uncertain significance Single submitter
- EDRF1 p.Pro451Leu Uncertain significance Single submitter
- EDRF1 p.Ser232Cys Uncertain significance Single submitter
- EDRF1 p.Ser233Gly Uncertain significance Single submitter
- EDRF1 p.Ser23Asn Uncertain significance Single submitter
- EDRF1 p.Ser552Ile Uncertain significance Single submitter
- EDRF1 p.Ser807Phe Uncertain significance Single submitter
- EDRF1 p.Thr1092Ile Uncertain significance Single submitter
- EDRF1 p.Thr1193Ile Uncertain significance Single submitter
- EDRF1 p.Val1042Phe Uncertain significance Single submitter
All EDRF1 variants
Benign 4
Likely benign 5
- p.Ala1137Thr Single submitter
- p.Ile1190Val Single submitter
- p.Ile940Val Single submitter
- p.Ser1176= Single submitter
- p.Val1012Ala Single submitter
Uncertain significance 101
- p.Ala1137Ser Single submitter ⚠
- p.Ala1210Thr Single submitter ⚠
- p.Ala1228Thr Single submitter ⚠
- p.Ala203Thr Single submitter ⚠
- p.Ala226Ser Single submitter ⚠
- p.Ala35Val Single submitter ⚠
- p.Ala4Asp Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Ala702Val Single submitter ⚠
- p.Ala90Gly Single submitter ⚠
- p.Ala988Val Single submitter ⚠
- p.Arg1052Trp Single submitter ⚠
- p.Arg1149Gln Single submitter ⚠
- p.Arg19Gln Single submitter ⚠
- p.Arg337Pro Single submitter ⚠
- p.Arg714Ter Single submitter
- p.Arg926Pro Single submitter ⚠
- p.Asn1207Ser Single submitter ⚠
- p.Asn1207Tyr Single submitter ⚠
- p.Asn214Ser Single submitter ⚠
- p.Asn413Ser Single submitter ⚠
- p.Asn937Tyr Single submitter ⚠
- p.Asp115Glu Single submitter ⚠
- p.Asp120Tyr Single submitter ⚠
- p.Asp258Val Single submitter ⚠
- p.Asp430Asn Single submitter ⚠
- p.Asp430Val Single submitter ⚠
- p.Asp446His Single submitter ⚠
- p.Asp544Asn Single submitter ⚠
- p.Asp559Glu Single submitter ⚠
- p.Asp954Asn Single submitter ⚠
- p.Gln1020Leu Single submitter ⚠
- p.Gln228Arg Single submitter ⚠
- p.Gln27His Single submitter ⚠
- p.Gln665Arg Single submitter ⚠
- p.Glu516Lys Single submitter ⚠
- p.Glu524Gln Single submitter ⚠
- p.Glu648Lys Single submitter ⚠
- p.Glu651Lys Single submitter ⚠
- p.Glu736Lys Single submitter ⚠
- p.Glu861Gly Single submitter ⚠
- p.Glu872Lys Single submitter ⚠
- p.Gly1224Ser Single submitter ⚠
- p.Gly1229Ser Single submitter ⚠
- p.Gly172Asp Single submitter ⚠
- p.Gly299Arg Single submitter ⚠
- p.Gly37Glu Single submitter ⚠
- p.Gly645Arg Single submitter ⚠
- p.Gly667Asp Single submitter ⚠
- p.Gly848Asp Single submitter ⚠
- p.Gly933Ala Single submitter ⚠
- p.His1046Asn Single submitter ⚠
- p.His595Arg Single submitter ⚠
- p.His770Arg Single submitter ⚠
- p.Ile1110Met Single submitter ⚠
- p.Ile1158Met Single submitter ⚠
- p.Ile213Val Single submitter ⚠
- p.Ile481Val Single submitter ⚠
- p.Ile676Thr Single submitter ⚠
- p.Ile887Val Single submitter ⚠
- p.Leu1166Phe Single submitter ⚠
- p.Leu42Phe Single submitter ⚠
- p.Leu460Phe Single submitter ⚠
- p.Leu485Pro Single submitter ⚠
- p.Leu798Met Single submitter ⚠
- p.Lys1180Asn Single submitter ⚠
- p.Lys1192Arg Single submitter ⚠
- p.Lys416Arg Single submitter ⚠
- p.Met1033Ile Single submitter ⚠
- p.Met1111Val Single submitter ⚠
- p.Met166Val Single submitter ⚠
- p.Met454Val Single submitter ⚠
- p.Met468Ile Single submitter ⚠
- p.Phe657Leu Single submitter ⚠
- p.Pro13Arg Single submitter ⚠
- p.Pro252Leu Single submitter ⚠
- p.Pro451Leu Single submitter ⚠
- p.Pro455Leu Single submitter ⚠
- p.Pro60Ser Single submitter ⚠
- p.Pro89Gln Single submitter ⚠
- p.Ser1060Asn Single submitter ⚠
- p.Ser232Cys Single submitter ⚠
- p.Ser233Gly Single submitter ⚠
- p.Ser23Asn Single submitter ⚠
- p.Ser552Ile Single submitter ⚠
- p.Ser57Ala Single submitter ⚠
- p.Ser807Phe Single submitter ⚠
- p.Ser84Gly Single submitter ⚠
- p.Thr1092Ile Single submitter ⚠
- p.Thr1193Ile Single submitter ⚠
- p.Thr237Ile Single submitter ⚠
- p.Thr746Arg Single submitter ⚠
- p.Thr906Met Single submitter ⚠
- p.Tyr1034Cys Single submitter ⚠
- p.Tyr353Cys Single submitter ⚠
- p.Tyr421Cys Single submitter ⚠
- p.Tyr448Cys Single submitter ⚠
- p.Tyr55Cys Single submitter ⚠
- p.Tyr744Cys Single submitter ⚠
- p.Val1042Phe Single submitter ⚠
- p.Val1218Ile Single submitter ⚠