Sugi Variant

Sugi Variant/ABCA2

ABCA2 — 613 ClinVar variants

All ClinVar germline ABCA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 431 flagged for review →

8 Pathogenic · 7 Likely pathogenic · 5 Conflicting · 33 Benign · 4 Benign/Likely benign · 125 Likely benign · 431 Uncertain significance

Full ABCA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 431

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 264

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 264

Predictors split 164

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 164

All ABCA2 variants

Pathogenic 8

  • c.6630_6630+1del Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Gln1405Ter Single submitter
  • p.Gln313Ter Single submitter intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Gly218fs Single submitter intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Met225fs Single submitter intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Ser617fs Single submitter intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Val1635fs Single submitter Ataxia with Dysarthria
  • p.Arg1513fs No assertion criteria intellectual developmental disorder with poor growth and with or without seizures or ataxia

Likely pathogenic 7

  • c.5923+1G>A Single submitter intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • c.5924-2A>C Single submitter
  • p.Gln1370Ter Single submitter intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Leu283fs Single submitter intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Ser1339fs Single submitter intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Ser1375Ter Single submitter intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Trp568Ter Single submitter

Conflicting classifications of pathogenicity 5

  • c.1555-8A>G Single submitter intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Arg1514His Single submitter ⚠
  • p.Arg2017Gln Single submitter ⚠
  • p.Arg265Gln Single submitter intellectual developmental disorder with poor growth and with or without seizures or ataxia ⚠
  • p.Thr398Lys Single submitter ABCA2-related disorder ⚠

Benign 33

  • c.1265+10C>T Multiple submitters
  • c.2212-34C>T Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • c.3105-22A>G Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • c.4447+19A>G Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • c.4448-124T>C Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • c.4550+71A>G Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • c.5360+41A>G Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • c.5652-10C>T Multiple submitters
  • c.6931-7C>T Multiple submitters
  • c.7275+156T>C Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • c.7275+71G>C Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • c.7275+82C>G Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • c.*167T>C Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Ala20= Multiple submitters
  • p.Ala364Val Multiple submitters ⚠
  • p.Asn421= Multiple submitters
  • p.Asp679= Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Glu1184= Multiple submitters
  • p.Gly1025= Multiple submitters
  • p.Gly651= Multiple submitters
  • p.His1824= Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Leu2230= Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Met1Val Multiple submitters
  • p.Phe1810= Multiple submitters
  • p.Val1423Phe Multiple submitters ⚠
  • c.2553+10G>A Single submitter
  • c.568-19_568-18insCCCCATCTGAGCCACAC Single submitter
  • p.Ala1226= Single submitter
  • p.Ser1250= Single submitter
  • p.Thr1313= Single submitter
  • p.Val1921= Single submitter
  • p.Ala267= No assertion criteria ABCA2-related disorder
  • p.Arg164His No assertion criteria ABCA2-related disorder ⚠

Benign/Likely benign 4

  • c.4003+7G>A Multiple submitters intellectual developmental disorder with poor growth and with or without seizures or ataxia
  • p.Asp1215= Multiple submitters
  • p.Leu399= Multiple submitters
  • p.Pro1983= Multiple submitters

Likely benign 125

Uncertain significance 431

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