ENOSF1 — 105 ClinVar variants
All ClinVar germline ENOSF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
1 Benign · 3 Likely benign · 101 Uncertain significance
Full ENOSF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENOSF1 p.Ala117Val Uncertain significance Single submitter
- ENOSF1 p.Ala121Thr Uncertain significance Single submitter
- ENOSF1 p.Ala356Val Uncertain significance Single submitter
- ENOSF1 p.Arg153Ser Uncertain significance Single submitter
- ENOSF1 p.Arg218Gly Uncertain significance Single submitter
- ENOSF1 p.Arg233Ser Uncertain significance Single submitter
- ENOSF1 p.Asp157His Uncertain significance Single submitter
- ENOSF1 p.Asp372Gly Uncertain significance Single submitter
- ENOSF1 p.Cys307Trp Uncertain significance Single submitter
- ENOSF1 p.Cys362Ser Uncertain significance Single submitter
- ENOSF1 p.Cys67Ser Uncertain significance Single submitter
- ENOSF1 p.Gln185Arg Uncertain significance Single submitter
- ENOSF1 p.Glu277Lys Uncertain significance Single submitter
- ENOSF1 p.Glu337Gly Uncertain significance Single submitter
- ENOSF1 p.Glu46Lys Uncertain significance Single submitter
- ENOSF1 p.Gly413Ser Uncertain significance Single submitter
- ENOSF1 p.His355Arg Uncertain significance Single submitter
- ENOSF1 p.Ile327Thr Uncertain significance Single submitter
- ENOSF1 p.Leu101Arg Uncertain significance Single submitter
- ENOSF1 p.Leu212Pro Uncertain significance Single submitter
- ENOSF1 p.Leu285Pro Uncertain significance Single submitter
- ENOSF1 p.Met231Leu Uncertain significance Single submitter
- ENOSF1 p.Met240Val Uncertain significance Single submitter
- ENOSF1 p.Met249Leu Uncertain significance Single submitter
- ENOSF1 p.Met418Thr Uncertain significance Single submitter
- ENOSF1 p.Phe371Ser Uncertain significance Single submitter
- ENOSF1 p.Ser35Leu Uncertain significance Single submitter
- ENOSF1 p.Thr192Ile Uncertain significance Single submitter
- ENOSF1 p.Thr203Met Uncertain significance Single submitter
- ENOSF1 p.Thr246Ala Uncertain significance Single submitter
- ENOSF1 p.Thr30Met Uncertain significance Single submitter
- ENOSF1 p.Thr43Ser Uncertain significance Single submitter
- ENOSF1 p.Val399Leu Uncertain significance Single submitter
- ENOSF1 p.Val40Ile Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
- ENOSF1 p.Ala260Val Uncertain significance Single submitter
- ENOSF1 p.Ala45Val Uncertain significance Single submitter
- ENOSF1 p.Arg254Cys Uncertain significance Single submitter
- ENOSF1 p.Arg403Trp Uncertain significance Single submitter
- ENOSF1 p.Asn252Ser Uncertain significance Single submitter
- ENOSF1 p.Asn78Ser Uncertain significance Single submitter
- ENOSF1 p.Asp163Asn Uncertain significance Single submitter
- ENOSF1 p.Asp202Asn Uncertain significance Single submitter
- ENOSF1 p.Asp214Gly Uncertain significance Single submitter
- ENOSF1 p.Cys194Ser Uncertain significance Single submitter
- ENOSF1 p.Cys385Phe Uncertain significance Single submitter
- ENOSF1 p.Gln402Pro Uncertain significance Single submitter
- ENOSF1 p.Glu262Lys Uncertain significance Single submitter
- ENOSF1 p.Gly174Arg Uncertain significance Single submitter
- ENOSF1 p.Ile84Val Uncertain significance Single submitter
- ENOSF1 p.Leu317Ile Uncertain significance Single submitter
- ENOSF1 p.Leu438Arg Uncertain significance Single submitter
- ENOSF1 p.Leu95Val Uncertain significance Single submitter
- ENOSF1 p.Lys50Glu Uncertain significance Single submitter
- ENOSF1 p.Met182Thr Uncertain significance Single submitter
- ENOSF1 p.Met248Val Uncertain significance Single submitter
- ENOSF1 p.Phe348Ser Uncertain significance Single submitter
- ENOSF1 p.Pro188Leu Uncertain significance Single submitter
- ENOSF1 p.Pro188Thr Uncertain significance Single submitter
- ENOSF1 p.Pro243Leu Uncertain significance Single submitter
- ENOSF1 p.Pro398Ser Uncertain significance Single submitter
- ENOSF1 p.Ser193Leu Uncertain significance Single submitter
- ENOSF1 p.Ser340Pro Uncertain significance Single submitter
- ENOSF1 p.Ser405Pro Uncertain significance Single submitter
- ENOSF1 p.Thr191Met Uncertain significance Single submitter
- ENOSF1 p.Thr217Ala Uncertain significance Single submitter
- ENOSF1 p.Thr96Ser Uncertain significance Single submitter
- ENOSF1 p.Tyr187Cys Uncertain significance Single submitter
- ENOSF1 p.Tyr92Cys Uncertain significance Single submitter
- ENOSF1 p.Val110Met Uncertain significance Single submitter
- ENOSF1 p.Val122Met Uncertain significance Single submitter
- ENOSF1 p.Val147Ala Uncertain significance Single submitter
- ENOSF1 p.Val261Met Uncertain significance Single submitter
- ENOSF1 p.Val359Ile Uncertain significance Single submitter
- ENOSF1 p.Val376Leu Uncertain significance Single submitter
- ENOSF1 p.Val85Gly Uncertain significance Single submitter
All ENOSF1 variants
Benign 1
- c.*1219T>C Multiple submitters
Likely benign 3
- c.1049-8C>T Single submitter
- p.Ala164= Single submitter
- p.Arg403Gln Single submitter
Uncertain significance 101
- c.84+108G>C Single submitter
- c.84+112A>C Single submitter
- c.84+114C>G Single submitter
- c.84+125T>C Single submitter
- c.84+130A>C Single submitter
- c.84+130A>G Single submitter
- c.84+132C>G Single submitter
- c.84+137A>T Single submitter
- c.84+143T>C Single submitter
- c.84+17T>C Single submitter
- c.84+22A>C Single submitter
- c.84+35T>C Single submitter
- c.84+40A>C Single submitter
- c.84+41G>T Single submitter
- c.84+53T>A Single submitter
- c.84+53T>C Single submitter
- c.84+54G>C Single submitter
- c.84+58A>C Single submitter
- c.84+60C>G Single submitter
- c.84+71T>C Single submitter
- c.84+72G>A Single submitter
- c.84+76A>C Single submitter
- c.84+78C>G Single submitter
- c.84+89T>C Single submitter
- c.84+94A>C Single submitter
- c.84+96C>G Single submitter
- p.Ala117Val Single submitter ⚠
- p.Ala121Thr Single submitter ⚠
- p.Ala260Val Single submitter ⚠
- p.Ala356Val Single submitter ⚠
- p.Ala45Val Single submitter ⚠
- p.Arg153Ser Single submitter ⚠
- p.Arg218Gly Single submitter ⚠
- p.Arg233Ser Single submitter ⚠
- p.Arg254Cys Single submitter ⚠
- p.Arg403Trp Single submitter ⚠
- p.Asn252Ser Single submitter ⚠
- p.Asn78Ser Single submitter ⚠
- p.Asp157His Single submitter ⚠
- p.Asp163Asn Single submitter ⚠
- p.Asp202Asn Single submitter ⚠
- p.Asp214Gly Single submitter ⚠
- p.Asp372Gly Single submitter ⚠
- p.Cys194Ser Single submitter ⚠
- p.Cys307Trp Single submitter ⚠
- p.Cys362Ser Single submitter ⚠
- p.Cys385Phe Single submitter ⚠
- p.Cys67Ser Single submitter ⚠
- p.Gln185Arg Single submitter ⚠
- p.Gln402Pro Single submitter ⚠
- p.Glu262Lys Single submitter ⚠
- p.Glu277Lys Single submitter ⚠
- p.Glu337Gly Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Gly174Arg Single submitter ⚠
- p.Gly413Ser Single submitter ⚠
- p.His355Arg Single submitter ⚠
- p.Ile327Thr Single submitter ⚠
- p.Ile84Val Single submitter ⚠
- p.Leu101Arg Single submitter ⚠
- p.Leu212Pro Single submitter ⚠
- p.Leu285Pro Single submitter ⚠
- p.Leu317Ile Single submitter ⚠
- p.Leu438Arg Single submitter ⚠
- p.Leu95Val Single submitter ⚠
- p.Lys50Glu Single submitter ⚠
- p.Met182Thr Single submitter ⚠
- p.Met231Leu Single submitter ⚠
- p.Met240Val Single submitter ⚠
- p.Met248Val Single submitter ⚠
- p.Met249Leu Single submitter ⚠
- p.Met418Thr Single submitter ⚠
- p.Phe348Ser Single submitter ⚠
- p.Phe371Ser Single submitter ⚠
- p.Pro188Leu Single submitter ⚠
- p.Pro188Thr Single submitter ⚠
- p.Pro243Leu Single submitter ⚠
- p.Pro398Ser Single submitter ⚠
- p.Ser193Leu Single submitter ⚠
- p.Ser340Pro Single submitter ⚠
- p.Ser35Leu Single submitter ⚠
- p.Ser405Pro Single submitter ⚠
- p.Thr191Met Single submitter ⚠
- p.Thr192Ile Single submitter ⚠
- p.Thr203Met Single submitter ⚠
- p.Thr217Ala Single submitter ⚠
- p.Thr246Ala Single submitter ⚠
- p.Thr30Met Single submitter ⚠
- p.Thr43Ser Single submitter ⚠
- p.Thr96Ser Single submitter ⚠
- p.Tyr187Cys Single submitter ⚠
- p.Tyr92Cys Single submitter ⚠
- p.Val110Met Single submitter ⚠
- p.Val122Met Single submitter ⚠
- p.Val147Ala Single submitter ⚠
- p.Val261Met Single submitter ⚠
- p.Val359Ile Single submitter ⚠
- p.Val376Leu Single submitter ⚠
- p.Val399Leu Single submitter ⚠
- p.Val40Ile Single submitter ⚠
- p.Val85Gly Single submitter ⚠