Sugi Variant

Sugi Variant/ERLIN2

ERLIN2 — 217 ClinVar variants

All ClinVar germline ERLIN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

20 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 9 Conflicting · 15 Benign · 3 Benign/Likely benign · 64 Likely benign · 93 Uncertain significance

Full ERLIN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 84

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 2

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

Predictors agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 55

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

Predictors split 24

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

All ERLIN2 variants

Pathogenic 20

Pathogenic/Likely pathogenic 3

  • p.Ala151Val Multiple submitters Spastic paraplegia
  • p.Gln63Lys Multiple submitters hereditary spastic paraplegia
  • p.Val168Met Multiple submitters spastic paraplegia 18a, autosomal dominant

Likely pathogenic 10

Conflicting classifications of pathogenicity 9

Benign 15

Benign/Likely benign 3

  • c.558-20C>T Multiple submitters Spastic paraplegia
  • p.Asn272= Multiple submitters Spastic paraplegia
  • p.Lys232= Multiple submitters hereditary spastic paraplegia

Likely benign 64

Uncertain significance 93