Sugi Variant

Sugi Variant/ABHD5

ABHD5 — 347 ClinVar variants

All ClinVar germline ABHD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →

20 Pathogenic · 3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 8 Conflicting · 33 Benign · 7 Benign/Likely benign · 107 Likely benign · 161 Uncertain significance

Full ABHD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 100

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 3

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

Predictors lean, ClinVar uncertain 63

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

Predictors split 34

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

All ABHD5 variants

Pathogenic 20

Pathogenic/Likely pathogenic 3

  • p.Arg280Ter Multiple submitters Dorfman-Chanarin disease
  • p.Glu336Ter Multiple submitters Dorfman-Chanarin disease
  • p.Thr244fs Multiple submitters Dorfman-Chanarin disease

Likely pathogenic 8

Conflicting classifications of pathogenicity 8

  • c.48-4C>G Single submitter Dorfman-Chanarin disease
  • c.662-10T>G Single submitter Dorfman-Chanarin disease
  • c.961-15C>T Single submitter Dorfman-Chanarin disease
  • p.Asn171Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp9Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu4Ala Single submitter Dorfman-Chanarin disease ⚠
  • p.Gly86= Single submitter Dorfman-Chanarin disease
  • p.Ile148= Single submitter Dorfman-Chanarin disease

Benign 33

Benign/Likely benign 7

Likely benign 107

Uncertain significance 161