Sugi Variant

Sugi Variant/ATP9A

ATP9A — 144 ClinVar variants

All ClinVar germline ATP9A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →

8 Pathogenic · 5 Likely pathogenic · 5 Benign · 16 Likely benign · 110 Uncertain significance

Full ATP9A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 106

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 lean, ClinVar uncertain 52

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

Predictors split 54

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

All ATP9A variants

Pathogenic 8

  • c.327+1G>T Single submitter
  • c.799+1G>T Single submitter neurodevelopmental disorder with poor growth and behavioral abnormalities
  • p.Arg290Ter Single submitter neurodevelopmental disorder with poor growth and behavioral abnormalities
  • p.Glu901Ter Single submitter neurodevelopmental disorder with poor growth and behavioral abnormalities
  • c.642+1G>A No assertion criteria neurodevelopmental disorder with poor growth and behavioral abnormalities
  • p.Arg145Ter No assertion criteria neurodevelopmental disorder with poor growth and behavioral abnormalities
  • p.Arg220Ter No assertion criteria neurodevelopmental disorder with poor growth and behavioral abnormalities
  • p.Trp328Ter No assertion criteria neurodevelopmental disorder with poor growth and behavioral abnormalities

Likely pathogenic 5

  • c.1181-2A>G Single submitter neurodevelopmental disorder with poor growth and behavioral abnormalities
  • p.Arg593Ter Single submitter neurodevelopmental disorder with poor growth and behavioral abnormalities
  • p.Asp679fs Single submitter neurodevelopmental disorder with poor growth and behavioral abnormalities
  • p.Leu389fs Single submitter
  • p.Tyr103fs Single submitter

Benign 5

Likely benign 16

Uncertain significance 110