Sugi Variant

Sugi Variant/ABCA13

ABCA13 — 882 ClinVar variants

All ClinVar germline ABCA13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 516 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 7 Conflicting · 39 Benign · 4 Benign/Likely benign · 109 Likely benign · 719 Uncertain significance

Full ABCA13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 516

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 4

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

Predictors lean, ClinVar uncertain 452

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 452

Predictors split 60

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

All ABCA13 variants

Pathogenic 1

Likely pathogenic 3

  • c.11473+2T>C Single submitter schizophrenia
  • p.Arg4022Ter Single submitter Intellectual disability without epilepsy
  • p.Leu837fs Single submitter Intellectual disability without epilepsy

Conflicting classifications of pathogenicity 7

Benign 39

Benign/Likely benign 4

Likely benign 109

Uncertain significance 719

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