Sugi Variant

Sugi Variant/ABHD16A

ABHD16A — 97 ClinVar variants

All ClinVar germline ABHD16A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

5 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 1 Benign · 17 Likely benign · 69 Uncertain significance

Full ABHD16A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 65

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 1

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

Predictors lean, ClinVar uncertain 57

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

Predictors split 7

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

All ABHD16A variants

Pathogenic 5

  • p.Arg172Ter Multiple submitters spastic paraplegia 86, autosomal recessive
  • p.Arg468Ter Single submitter spastic paraplegia 86, autosomal recessive
  • p.Arg114Ter No assertion criteria spastic paraplegia 86, autosomal recessive
  • p.Arg457Gln No assertion criteria spastic paraplegia 86, autosomal recessive
  • p.Gln279Ter No assertion criteria spastic paraplegia 86, autosomal recessive

Likely pathogenic 3

  • c.1307+1G>A Single submitter spastic paraplegia 86, autosomal recessive
  • p.Trp513Ter Single submitter spastic paraplegia 86, autosomal recessive
  • p.Tyr486fs Single submitter Autosomal recessive complex spastic paraplegia

Conflicting classifications of pathogenicity 2

  • p.Arg445Ter Single submitter spastic paraplegia 86, autosomal recessive
  • p.Ile485Val Single submitter Inborn genetic diseases ⚠

Benign 1

Likely benign 17

Uncertain significance 69