Sugi Variant

Sugi Variant/ABCA12

ABCA12 — 1763 ClinVar variants

All ClinVar germline ABCA12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 479 flagged for review →

105 Pathogenic · 13 Pathogenic/Likely pathogenic · 91 Likely pathogenic · 118 Conflicting · 109 Benign · 20 Benign/Likely benign · 891 Likely benign · 416 Uncertain significance

Full ABCA12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 479

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 4

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

Predictors agree, ClinVar conflicts 62

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

Predictors lean, ClinVar uncertain 266

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 266

Predictors split 147

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

All ABCA12 variants

Pathogenic 105

Pathogenic/Likely pathogenic 13

Likely pathogenic 91

Conflicting classifications of pathogenicity 118

Benign 109

Benign/Likely benign 20

  • c.1062-8T>A Multiple submitters Congenital ichthyosis of skin
  • c.1287+14G>T Multiple submitters Congenital ichthyosis of skin
  • c.3977-4C>T Multiple submitters
  • p.Ala2403= Multiple submitters
  • p.Asn156Asp Multiple submitters Inborn genetic diseases
  • p.Asn237His Multiple submitters Congenital ichthyosis of skin
  • p.Asp2167= Multiple submitters Congenital ichthyosis of skin
  • p.Asp2365Asn Multiple submitters Congenital ichthyosis of skin
  • p.Glu183= Multiple submitters Congenital ichthyosis of skin
  • p.Glu2182Asp Multiple submitters Inborn genetic diseases
  • p.Ile1409Val Multiple submitters autosomal recessive congenital ichthyosis 4B
  • p.Leu641= Multiple submitters Congenital ichthyosis of skin
  • p.Met1161Leu Multiple submitters Congenital ichthyosis of skin
  • p.Pro589Thr Multiple submitters Congenital ichthyosis of skin
  • p.Ser2441= Multiple submitters
  • p.Ser325Phe Multiple submitters Congenital ichthyosis of skin
  • p.Ser408Pro Multiple submitters Congenital ichthyosis of skin
  • p.Ser459Thr Multiple submitters autosomal recessive congenital ichthyosis 4B
  • p.Val1873Ile Multiple submitters Congenital ichthyosis of skin
  • p.Val2273= Multiple submitters Congenital ichthyosis of skin

Likely benign 891

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

Uncertain significance 416

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