Sugi Variant

Sugi Variant/ATP8A2

ATP8A2 — 558 ClinVar variants

All ClinVar germline ATP8A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 233 flagged for review →

19 Pathogenic · 4 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 13 Conflicting · 41 Benign · 13 Benign/Likely benign · 193 Likely benign · 246 Uncertain significance

Full ATP8A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 233

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 6

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

Predictors lean, ClinVar uncertain 153

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 153

Predictors split 74

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

All ATP8A2 variants

Pathogenic 19

  • c.1782+2T>C Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • c.2212-1G>C Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • c.3183+1G>A Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium
  • p.Arg581Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Asn596fs Single submitter
  • p.Asn886fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Asp1121fs Single submitter
  • p.Gln217Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Glu1106fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Leu231fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Leu271Ter Single submitter
  • p.Leu391fs Single submitter
  • p.Pro495fs Single submitter
  • p.Thr1099fs Single submitter
  • p.Thr237fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Tyr370Ter Single submitter
  • p.Tyr424Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • c.1580-18C>G No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Ile376Met No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Pathogenic/Likely pathogenic 4

  • c.3272+1G>A Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • c.77-2A>G Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Arg586Ter Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Arg588fs Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Likely pathogenic 29

  • p.Asp765Tyr Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • c.1058-2A>G Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • c.1185+5G>A Single submitter
  • c.1474-2del Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • c.221+2T>G Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • c.2568+1G>A Single submitter
  • c.2754+1G>A Single submitter
  • c.3075+1G>A Single submitter
  • c.3076-2A>G Single submitter
  • c.321+3_321+8del Single submitter
  • c.3469+1G>C Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • c.779+2T>A Single submitter
  • c.780-1G>T Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Arg1112Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Arg142Ter Single submitter
  • p.Arg588Trp Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 ⚠
  • p.Arg720Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Asp70fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Asp851fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Gly173fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Lys429Asn Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Lys429Met Single submitter
  • p.Lys442fs Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Lys948Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Trp911Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Tyr248Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Tyr639Ter Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • c.1868-2A>G No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • p.Asn917Asp No assertion criteria cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Conflicting classifications of pathogenicity 13

  • c.1057+5G>C Single submitter
  • c.1397+6T>C Single submitter
  • c.1868-5dup Single submitter Inborn genetic diseases
  • c.76+10G>A Single submitter
  • p.Ala44fs Single submitter
  • p.Ala53Val Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 ⚠
  • p.Arg490His Single submitter ⚠
  • p.Arg778Gln Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 ⚠
  • p.Asp49Tyr Single submitter ⚠
  • p.Gly822= Single submitter
  • p.Ile966Val Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 ⚠
  • p.Lys423Ile Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 ⚠
  • p.Val179Ile Single submitter cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 ⚠

Benign 41

Benign/Likely benign 13

Likely benign 193

Uncertain significance 246