Sugi Variant

Sugi Variant/CA2

CA2 — 214 ClinVar variants

All ClinVar germline CA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →

10 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 7 Conflicting · 22 Benign · 3 Benign/Likely benign · 64 Likely benign · 95 Uncertain significance

Full CA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 79

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 2

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

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 36

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

Predictors split 40

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

All CA2 variants

Pathogenic 10

  • c.232+1G>A Multiple submitters autosomal recessive osteopetrosis 3
  • p.Ser48fs Single submitter
  • p.Tyr127Ter Single submitter autosomal recessive osteopetrosis 3
  • p.Tyr7Ter Single submitter autosomal recessive osteopetrosis 3
  • c.508-1G>C No assertion criteria autosomal recessive osteopetrosis 3
  • p.His107Tyr No assertion criteria autosomal recessive osteopetrosis 3
  • p.Lys18Glu No assertion criteria CARBONIC ANHYDRASE II VARIANT ⚠
  • p.Pro236His No assertion criteria CARBONIC ANHYDRASE II VARIANT ⚠
  • p.Trp208fs No assertion criteria autosomal recessive osteopetrosis 3
  • p.Tyr40Ter No assertion criteria autosomal recessive osteopetrosis 3

Pathogenic/Likely pathogenic 3

  • p.Glu204Ter Multiple submitters autosomal recessive osteopetrosis 3
  • p.Leu211fs Multiple submitters autosomal recessive osteopetrosis 3
  • p.Lys227fs Multiple submitters autosomal recessive osteopetrosis 3

Likely pathogenic 10

  • p.Gln92Pro Multiple submitters autosomal recessive osteopetrosis 3
  • p.Tyr193Ter Multiple submitters autosomal recessive osteopetrosis 3
  • c.232+2T>G Single submitter CA2-related disorder
  • c.233-1G>A Single submitter autosomal recessive osteopetrosis 3
  • c.445-2_445-1delinsTC Single submitter autosomal recessive osteopetrosis 3
  • p.Lys224fs Single submitter autosomal recessive osteopetrosis 3
  • p.Met1Arg Single submitter Neurodevelopmental delay
  • p.Ser105Ter Single submitter autosomal recessive osteopetrosis 3
  • p.Ser56fs Single submitter autosomal recessive osteopetrosis 3
  • p.Tyr51Ter No assertion criteria CA2-related disorder

Conflicting classifications of pathogenicity 7

  • c.35-7C>A Single submitter autosomal recessive osteopetrosis 3
  • c.508-7G>A Single submitter autosomal recessive osteopetrosis 3
  • p.Ile145Val Single submitter Inborn genetic diseases ⚠
  • p.Lys113= Single submitter autosomal recessive osteopetrosis 3
  • p.Pro154= Single submitter autosomal recessive osteopetrosis 3
  • p.Ser219= Single submitter autosomal recessive osteopetrosis 3
  • p.Val217= Single submitter autosomal recessive osteopetrosis 3

Benign 22

Benign/Likely benign 3

  • p.Asn252Asp Multiple submitters autosomal recessive osteopetrosis 3 ⚠
  • p.Ser216= Multiple submitters autosomal recessive osteopetrosis 3
  • p.Val206= Multiple submitters autosomal recessive osteopetrosis 3

Likely benign 64

Uncertain significance 95