ESF1 — 104 ClinVar variants

All ClinVar germline ESF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →

9 Likely benign · 95 Uncertain significance

Full ESF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 96

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 54

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 42

The independent predictors disagree with each other — read with care.

All ESF1 variants

Likely benign 9

p.Arg348His Single submitter
p.Asn561Ser Single submitter
p.Glu126Lys Single submitter
p.Glu182Lys Single submitter
p.Glu840fs Single submitter
p.Ile835Val Single submitter
p.Phe323Leu Single submitter
p.Ser261Gly Single submitter
p.Val382Ile Single submitter ⚠

Uncertain significance 95

p.Ala120Thr Single submitter ⚠
p.Ala303Thr Single submitter ⚠
p.Ala412Ser Single submitter ⚠
p.Ala651Ser Single submitter ⚠
p.Ala651Thr Single submitter ⚠
p.Ala653Thr Single submitter ⚠
p.Ala709Val Single submitter ⚠
p.Arg12Trp Single submitter ⚠
p.Arg15Trp Single submitter ⚠
p.Arg30Gln Single submitter ⚠
p.Arg342Cys Single submitter ⚠
p.Arg342His Single submitter ⚠
p.Arg349Gln Single submitter ⚠
p.Arg58His Single submitter ⚠
p.Arg58Leu Single submitter ⚠
p.Arg70His Single submitter ⚠
p.Arg795Trp Single submitter ⚠
p.Asn165Asp Single submitter ⚠
p.Asn370Ser Single submitter ⚠
p.Asn779Ser Single submitter ⚠
p.Asp221Glu Single submitter ⚠
p.Asp237Asn Single submitter ⚠
p.Asp237Val Single submitter ⚠
p.Asp270Asn Single submitter ⚠
p.Asp289Ala Single submitter ⚠
p.Asp292Gly Single submitter ⚠
p.Asp339Asn Single submitter ⚠
p.Asp344Glu Single submitter ⚠
p.Asp574His Single submitter ⚠
p.Asp73Asn Single submitter ⚠
p.Asp751Gly Single submitter ⚠
p.Asp759Asn Single submitter ⚠
p.Cys203Ser Single submitter ⚠
p.Gln11His Single submitter ⚠
p.Gln163Glu Single submitter ⚠
p.Gln537His Single submitter ⚠
p.Gln802Glu Single submitter ⚠
p.Glu278Asp Single submitter ⚠
p.Glu392Gln Single submitter ⚠
p.Glu576Lys Single submitter ⚠
p.Glu801Asp Single submitter ⚠
p.Glu818Gln Single submitter ⚠
p.Glu818Lys Single submitter ⚠
p.Gly556Asp Single submitter ⚠
p.His516Leu Single submitter ⚠
p.His516Pro Single submitter ⚠
p.Ile135Val Single submitter ⚠
p.Ile152Met Single submitter ⚠
p.Ile195Thr Single submitter ⚠
p.Ile309Thr Single submitter ⚠
p.Ile474Thr Single submitter ⚠
p.Ile509Val Single submitter ⚠
p.Ile550Val Single submitter ⚠
p.Leu365Phe Single submitter ⚠
p.Leu368Met Single submitter ⚠
p.Leu489Ile Single submitter ⚠
p.Lys166Arg Single submitter ⚠
p.Lys167Glu Single submitter ⚠
p.Lys169Glu Single submitter ⚠
p.Lys48Arg Single submitter ⚠
p.Lys638Asn Single submitter ⚠
p.Lys800Arg Single submitter ⚠
p.Lys810Arg Single submitter ⚠
p.Lys846Arg Single submitter ⚠
p.Lys849Glu Single submitter ⚠
p.Lys98Gln Single submitter ⚠
p.Met534Val Single submitter ⚠
p.Met601Thr Single submitter ⚠
p.Met618Ile Single submitter ⚠
p.Met618Thr Single submitter ⚠
p.Met830Leu Single submitter ⚠
p.Phe672Leu Single submitter ⚠
p.Phe771Leu Single submitter ⚠
p.Pro20Leu Single submitter ⚠
p.Pro494Thr Single submitter ⚠
p.Pro631Ser Single submitter ⚠
p.Pro670Arg Single submitter ⚠
p.Ser158Arg Single submitter ⚠
p.Ser190Pro Single submitter ⚠
p.Ser245Arg Single submitter ⚠
p.Ser247Gly Single submitter ⚠
p.Ser685Leu Single submitter ⚠
p.Ser9Gly Single submitter ⚠
p.Thr187Ile Single submitter ⚠
p.Thr192Ile Single submitter ⚠
p.Thr347Ala Single submitter ⚠
p.Thr490Ala Single submitter ⚠
p.Thr520Ala Single submitter ⚠
p.Thr693Ile Single submitter ⚠
p.Val111Ala Single submitter ⚠
p.Val246Ile Single submitter ⚠
p.Val399Leu Single submitter ⚠
p.Val562Gly Single submitter ⚠
p.Val608Leu Single submitter ⚠
p.Val755Ile Single submitter ⚠