Sugi Variant

Sugi Variant/ABCC9

ABCC9 — 2127 ClinVar variants

All ClinVar germline ABCC9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 775 flagged for review →

55 Pathogenic · 6 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 117 Conflicting · 123 Benign · 39 Benign/Likely benign · 817 Likely benign · 929 Uncertain significance

Full ABCC9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 775

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 21

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

Predictors lean, ClinVar uncertain 476

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 476

Predictors split 277

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 277

All ABCC9 variants

Pathogenic 55

Pathogenic/Likely pathogenic 6

Likely pathogenic 41

Conflicting classifications of pathogenicity 117

Benign 123

Benign/Likely benign 39

  • c.1165-7_1165-6del Multiple submitters
  • c.142+15dup Multiple submitters dilated cardiomyopathy 1O
  • c.142+19T>A Multiple submitters dilated cardiomyopathy 1O
  • c.1803-5dup Multiple submitters dilated cardiomyopathy 1O
  • c.2339+13A>G Multiple submitters dilated cardiomyopathy 1O
  • c.2424+9T>C Multiple submitters hypertrichotic osteochondrodysplasia Cantu type
  • c.2644-11G>A Multiple submitters hypertrichotic osteochondrodysplasia Cantu type
  • c.3096+13C>T Multiple submitters dilated cardiomyopathy 1O
  • c.3315+17C>T Multiple submitters intellectual disability and myopathy syndrome
  • c.407-13T>C Multiple submitters dilated cardiomyopathy 1O
  • c.4212-18A>C Multiple submitters dilated cardiomyopathy 1O
  • c.4315+11T>C Multiple submitters dilated cardiomyopathy 1O
  • c.4450-5del Multiple submitters Cardiovascular phenotype
  • c.4450-6_4450-5del Multiple submitters dilated cardiomyopathy 1O
  • c.4512+16C>T Multiple submitters dilated cardiomyopathy 1O
  • c.574-18G>A Multiple submitters dilated cardiomyopathy 1O
  • c.817-17C>T Multiple submitters dilated cardiomyopathy 1O
  • c.817-18del Multiple submitters dilated cardiomyopathy 1O
  • c.817-7del Multiple submitters cardiomyopathy
  • c.-11T>C Multiple submitters hypertrichotic osteochondrodysplasia Cantu type
  • p.Ala1010= Multiple submitters Cardiovascular phenotype
  • p.Ala559= Multiple submitters Cardiovascular phenotype
  • p.Ala665Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn350= Multiple submitters Cardiovascular phenotype
  • p.Asp266= Multiple submitters Cardiovascular phenotype
  • p.Asp308= Multiple submitters cardiomyopathy
  • p.Asp616= Multiple submitters hypertrichotic osteochondrodysplasia Cantu type
  • p.Cys263= Multiple submitters hypertrichotic osteochondrodysplasia Cantu type
  • p.Ile1107= Multiple submitters Cardiovascular phenotype
  • p.Ile1365Val Multiple submitters dilated cardiomyopathy 1O ⚠
  • p.Ile718= Multiple submitters Cardiovascular phenotype
  • p.Leu1111= Multiple submitters Cardiovascular phenotype
  • p.Phe1463= Multiple submitters Cardiovascular phenotype
  • p.Ser1354= Multiple submitters Cardiovascular phenotype
  • p.Thr400= Multiple submitters Cardiovascular phenotype
  • p.Tyr352= Multiple submitters dilated cardiomyopathy 1O
  • p.Val1137Ile Multiple submitters cardiomyopathy
  • p.Val32= Multiple submitters Cardiovascular phenotype
  • c.2020-6T>C No assertion criteria

Likely benign 817

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

Uncertain significance 929

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