Sugi Variant

Sugi Variant/ANKRD26

ANKRD26 — 2872 ClinVar variants

All ClinVar germline ANKRD26 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1734 flagged for review →

2 Pathogenic · 7 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 134 Conflicting · 130 Benign · 41 Benign/Likely benign · 691 Likely benign · 1863 Uncertain significance

Full ANKRD26 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1734

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 76

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

Predictors lean, ClinVar uncertain 1087

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 1087

Predictors split 571

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 571

All ANKRD26 variants

Pathogenic 2

  • p.Arg786Ter Single submitter thrombocytopenia 2
  • c.-126T>G No assertion criteria thrombocytopenia 2

Pathogenic/Likely pathogenic 7

  • c.-118C>A Multiple submitters thrombocytopenia
  • c.-118C>T Multiple submitters thrombocytopenia 2
  • c.-126T>C Multiple submitters inherited bleeding disorder, platelet-type
  • c.-127A>T Multiple submitters thrombocytopenia 2
  • c.-128G>A Multiple submitters thrombocytopenia 2
  • c.-128G>T Multiple submitters thrombocytopenia 2
  • c.-134G>A Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 4

Conflicting classifications of pathogenicity 134

Benign 130

Benign/Likely benign 41

  • c.1207+15A>G Multiple submitters thrombocytopenia 2
  • c.1269+11_1269+12del Multiple submitters thrombocytopenia 2
  • c.1564+6T>C Multiple submitters thrombocytopenia 2
  • c.1635+9T>C Multiple submitters thrombocytopenia 2
  • c.2697+9A>G Multiple submitters thrombocytopenia 2
  • c.531+10A>T Multiple submitters thrombocytopenia 2
  • c.531+41C>T Multiple submitters thrombocytopenia 2
  • c.-184G>T Multiple submitters thrombocytopenia 2
  • c.-77C>G Multiple submitters thrombocytopenia 2
  • p.Ala510= Multiple submitters Inborn genetic diseases
  • p.Ala54= Multiple submitters thrombocytopenia 2
  • p.Arg623Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn372= Multiple submitters Inborn genetic diseases
  • p.Asp1396= Multiple submitters Inborn genetic diseases
  • p.Asp313Asn Multiple submitters thrombocytopenia 2 ⚠
  • p.Asp316= Multiple submitters Inborn genetic diseases
  • p.Asp442= Multiple submitters Inborn genetic diseases
  • p.Asp576= Multiple submitters Inborn genetic diseases
  • p.Asp929= Multiple submitters Inborn genetic diseases
  • p.Cys1420Tyr Multiple submitters thrombocytopenia 2
  • p.Gln192= Multiple submitters thrombocytopenia 2
  • p.Gln216= Multiple submitters thrombocytopenia 2
  • p.Gln315= Multiple submitters Inborn genetic diseases
  • p.Gln893= Multiple submitters Inborn genetic diseases
  • p.Glu602= Multiple submitters Inborn genetic diseases
  • p.Glu778Gln Multiple submitters thrombocytopenia 2 ⚠
  • p.His145= Multiple submitters Inborn genetic diseases
  • p.Ile1482Thr Multiple submitters thrombocytopenia 2 ⚠
  • p.Ile226= Multiple submitters Inborn genetic diseases
  • p.Leu1499= Multiple submitters Inborn genetic diseases
  • p.Leu992= Multiple submitters Inborn genetic diseases
  • p.Lys1128= Multiple submitters thrombocytopenia 2
  • p.Lys8= Multiple submitters Inborn genetic diseases
  • p.Lys996= Multiple submitters Inborn genetic diseases
  • p.Pro252= Multiple submitters thrombocytopenia 2
  • p.Ser625= Multiple submitters Inborn genetic diseases
  • p.Ser691Pro Multiple submitters thrombocytopenia 2 ⚠
  • p.Thr1245= Multiple submitters Inborn genetic diseases
  • p.Thr477= Multiple submitters Inborn genetic diseases
  • p.Val1219Ile Multiple submitters thrombocytopenia 2
  • p.Val1497Asp Multiple submitters thrombocytopenia 2

Likely benign 691

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

Uncertain significance 1863

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