Sugi Variant

Sugi Variant/ELP1

ELP1 — 2534 ClinVar variants

All ClinVar germline ELP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 810 flagged for review →

65 Pathogenic · 76 Pathogenic/Likely pathogenic · 267 Likely pathogenic · 66 Conflicting · 125 Benign · 15 Benign/Likely benign · 941 Likely benign · 979 Uncertain significance

Full ELP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 810

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 agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 417

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 417

Predictors split 377

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 377

All ELP1 variants

Pathogenic 65

Pathogenic/Likely pathogenic 76

Likely pathogenic 267

Conflicting classifications of pathogenicity 66

Benign 125

Benign/Likely benign 15

Likely benign 941

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 979

Showing the top 300 by review status; the full set is in the sitemap.