ELF2 — 72 ClinVar variants

All ClinVar germline ELF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →

1 Likely pathogenic · 2 Likely benign · 69 Uncertain significance

Full ELF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 70

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ELF2 p.Ala4Thr Likely pathogenic Single submitter
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Predictors lean, ClinVar uncertain 47

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

Predictors split 22

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

All ELF2 variants

Likely pathogenic 1

p.Ala4Thr Single submitter cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome ⚠

Likely benign 2

p.Ile346Val Single submitter
p.Thr465= Single submitter

Uncertain significance 69

p.Ala135Pro Single submitter ⚠
p.Ala368Val Single submitter ⚠
p.Ala383Val Single submitter ⚠
p.Ala428Val Single submitter ⚠
p.Ala444Gly Single submitter ⚠
p.Ala517Ser Single submitter ⚠
p.Ala541Thr Single submitter ⚠
p.Ala573Val Single submitter ⚠
p.Arg137Ser Single submitter ⚠
p.Arg178Cys Single submitter ⚠
p.Arg338His Single submitter ⚠
p.Asn22His Single submitter ⚠
p.Asn308Asp Single submitter ⚠
p.Asn360Ser Single submitter ⚠
p.Asp139Asn Single submitter ⚠
p.Asp450Glu Single submitter ⚠
p.Asp547Val Single submitter ⚠
p.Asp58Gly Single submitter ⚠
p.Gln393Arg Single submitter ⚠
p.Gln469Arg Single submitter ⚠
p.Glu59Gly Single submitter ⚠
p.Glu69Gln Single submitter ⚠
p.Glu75Lys Single submitter ⚠
p.Gly354Cys Single submitter ⚠
p.His133Arg Single submitter ⚠
p.His546Arg Single submitter ⚠
p.His90Pro Single submitter ⚠
p.Ile141Phe Single submitter ⚠
p.Ile296Leu Single submitter ⚠
p.Ile296Val Single submitter ⚠
p.Ile438Met Single submitter ⚠
p.Ile438Val Single submitter ⚠
p.Ile577Val Single submitter ⚠
p.Leu401Phe Single submitter ⚠
p.Leu551Ser Single submitter ⚠
p.Leu588Ile Single submitter ⚠
p.Lys28Asn Single submitter ⚠
p.Lys341Arg Single submitter ⚠
p.Met136Val Single submitter ⚠
p.Met442Ile Single submitter ⚠
p.Met62Val Single submitter ⚠
p.Pro138Ser Single submitter ⚠
p.Pro170Ser Single submitter ⚠
p.Pro373Ser Single submitter ⚠
p.Pro418Ala Single submitter ⚠
p.Pro523Thr Single submitter ⚠
p.Ser185Thr Single submitter ⚠
p.Ser30Phe Single submitter ⚠
p.Ser329Gly Single submitter ⚠
p.Ser511Thr Single submitter ⚠
p.Ser537Leu Single submitter ⚠
p.Thr11Ala Single submitter ⚠
p.Thr144Asn Single submitter ⚠
p.Thr374Ala Single submitter ⚠
p.Thr374Ile Single submitter ⚠
p.Thr376Ala Single submitter ⚠
p.Thr382Ile Single submitter ⚠
p.Thr440Ile Single submitter ⚠
p.Thr440Pro Single submitter ⚠
p.Thr461Ile Single submitter ⚠
p.Thr514Ile Single submitter ⚠
p.Thr566Ala Single submitter ⚠
p.Val176Ala Single submitter ⚠
p.Val337Ala Single submitter ⚠
p.Val337Leu Single submitter ⚠
p.Val358Ile Single submitter ⚠
p.Val37Glu Single submitter ⚠
p.Val396Leu Single submitter ⚠
p.Val80Ala Single submitter ⚠