ERRFI1 — 59 ClinVar variants
All ClinVar germline ERRFI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
3 Benign · 2 Likely benign · 54 Uncertain significance
Full ERRFI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERRFI1 p.Ala4Val Uncertain significance Single submitter
- ERRFI1 p.Ala8Thr Uncertain significance Single submitter
- ERRFI1 p.Arg245Lys Uncertain significance Single submitter
- ERRFI1 p.Arg37Leu Uncertain significance Single submitter
- ERRFI1 p.Arg63Cys Uncertain significance Single submitter
- ERRFI1 p.Asn28Tyr Uncertain significance Single submitter
- ERRFI1 p.Asp221Ala Uncertain significance Single submitter
- ERRFI1 p.Asp277Glu Uncertain significance Single submitter
- ERRFI1 p.Gln228Glu Uncertain significance Single submitter
- ERRFI1 p.Gln424His Uncertain significance Single submitter
- ERRFI1 p.Gln424Lys Uncertain significance Single submitter
- ERRFI1 p.Gln88Arg Uncertain significance Single submitter
- ERRFI1 p.Gly149Ala Uncertain significance Single submitter
- ERRFI1 p.Ile133Met Uncertain significance Single submitter
- ERRFI1 p.Ile264Leu Uncertain significance Single submitter
- ERRFI1 p.Ile269Val Uncertain significance Single submitter
- ERRFI1 p.Ile383Thr Uncertain significance Single submitter
- ERRFI1 p.Ile3Val Uncertain significance Single submitter
- ERRFI1 p.Ile432Thr Uncertain significance Single submitter
- ERRFI1 p.Leu56Arg Uncertain significance Single submitter
- ERRFI1 p.Lys134Arg Uncertain significance Single submitter
- ERRFI1 p.Lys336Arg Uncertain significance Single submitter
- ERRFI1 p.Lys387Arg Uncertain significance Single submitter
- ERRFI1 p.Pro238Leu Uncertain significance Single submitter
- ERRFI1 p.Pro291Ala Uncertain significance Single submitter
- ERRFI1 p.Pro316His Uncertain significance Single submitter
- ERRFI1 p.Pro320Leu Uncertain significance Single submitter
- ERRFI1 p.Pro75Ala Uncertain significance Single submitter
- ERRFI1 p.Pro94Ala Uncertain significance Single submitter
- ERRFI1 p.Ser186Pro Uncertain significance Single submitter
- ERRFI1 p.Ser328Thr Uncertain significance Single submitter
- ERRFI1 p.Ser337Thr Uncertain significance Single submitter
- ERRFI1 p.Thr187Ile Uncertain significance Single submitter
- ERRFI1 p.Thr306Ser Uncertain significance Single submitter
- ERRFI1 p.Thr32Ile Uncertain significance Single submitter
- ERRFI1 p.Thr51Pro Uncertain significance Single submitter
- ERRFI1 p.Tyr224Cys Uncertain significance Single submitter
- ERRFI1 p.Val217Ile Uncertain significance Single submitter
- ERRFI1 p.Val345Phe Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- ERRFI1 p.Arg148Trp Uncertain significance Single submitter
- ERRFI1 p.Arg331Cys Uncertain significance Single submitter
- ERRFI1 p.Arg400Pro Uncertain significance Single submitter
- ERRFI1 p.Asn385Lys Uncertain significance Single submitter
- ERRFI1 p.Gly122Arg Uncertain significance Single submitter
- ERRFI1 p.Gly203Glu Uncertain significance Single submitter
- ERRFI1 p.Leu92Phe Uncertain significance Single submitter
- ERRFI1 p.Phe410Leu Uncertain significance Single submitter
- ERRFI1 p.Phe411Ser Uncertain significance Single submitter
- ERRFI1 p.Pro348Thr Uncertain significance Single submitter
- ERRFI1 p.Pro427His Uncertain significance Single submitter
- ERRFI1 p.Ser273Phe Uncertain significance Single submitter
- ERRFI1 p.Ser311Gly Uncertain significance Single submitter
- ERRFI1 p.Tyr407His Uncertain significance Single submitter
- ERRFI1 p.Val283Ala Uncertain significance Single submitter
All ERRFI1 variants
Benign 3
- p.Arg244= Multiple submitters
- p.Ile158Leu Multiple submitters
- p.Pro239Leu Multiple submitters
Likely benign 2
- p.Arg63His Single submitter
- p.Ser276= Single submitter
Uncertain significance 54
- p.Ala4Val Single submitter ⚠
- p.Ala8Thr Single submitter ⚠
- p.Arg148Trp Single submitter ⚠
- p.Arg245Lys Single submitter ⚠
- p.Arg331Cys Single submitter ⚠
- p.Arg37Leu Single submitter ⚠
- p.Arg400Pro Single submitter ⚠
- p.Arg63Cys Single submitter ⚠
- p.Asn28Tyr Single submitter ⚠
- p.Asn385Lys Single submitter ⚠
- p.Asp221Ala Single submitter ⚠
- p.Asp277Glu Single submitter ⚠
- p.Gln228Glu Single submitter ⚠
- p.Gln424His Single submitter ⚠
- p.Gln424Lys Single submitter ⚠
- p.Gln88Arg Single submitter ⚠
- p.Gly122Arg Single submitter ⚠
- p.Gly149Ala Single submitter ⚠
- p.Gly203Glu Single submitter ⚠
- p.Ile133Met Single submitter ⚠
- p.Ile264Leu Single submitter ⚠
- p.Ile269Val Single submitter ⚠
- p.Ile383Thr Single submitter ⚠
- p.Ile3Val Single submitter ⚠
- p.Ile432Thr Single submitter ⚠
- p.Leu56Arg Single submitter ⚠
- p.Leu92Phe Single submitter ⚠
- p.Lys134Arg Single submitter ⚠
- p.Lys336Arg Single submitter ⚠
- p.Lys387Arg Single submitter ⚠
- p.Phe410Leu Single submitter ⚠
- p.Phe411Ser Single submitter ⚠
- p.Pro238Leu Single submitter ⚠
- p.Pro291Ala Single submitter ⚠
- p.Pro316His Single submitter ⚠
- p.Pro320Leu Single submitter ⚠
- p.Pro348Thr Single submitter ⚠
- p.Pro427His Single submitter ⚠
- p.Pro75Ala Single submitter ⚠
- p.Pro94Ala Single submitter ⚠
- p.Ser186Pro Single submitter ⚠
- p.Ser273Phe Single submitter ⚠
- p.Ser311Gly Single submitter ⚠
- p.Ser328Thr Single submitter ⚠
- p.Ser337Thr Single submitter ⚠
- p.Thr187Ile Single submitter ⚠
- p.Thr306Ser Single submitter ⚠
- p.Thr32Ile Single submitter ⚠
- p.Thr51Pro Single submitter ⚠
- p.Tyr224Cys Single submitter ⚠
- p.Tyr407His Single submitter ⚠
- p.Val217Ile Single submitter ⚠
- p.Val283Ala Single submitter ⚠
- p.Val345Phe Single submitter ⚠