Sugi Variant

Sugi Variant/SLCO2A1

SLCO2A1 — 354 ClinVar variants

All ClinVar germline SLCO2A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →

36 Pathogenic · 4 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 10 Conflicting · 29 Benign · 7 Benign/Likely benign · 119 Likely benign · 124 Uncertain significance

Full SLCO2A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 115

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 8

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

Predictors lean, ClinVar uncertain 86

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

Predictors split 21

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

All SLCO2A1 variants

Pathogenic 36

  • c.940+1G>A Multiple submitters hypertrophic osteoarthropathy, primary, autosomal dominant
  • c.941-1G>A Multiple submitters hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Arg603Ter Multiple submitters hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Ala500fs Single submitter
  • p.Arg590fs Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Asn545fs Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Gln395Ter Single submitter
  • p.Gly104Ter Single submitter hypertrophic osteoarthropathy, primary, autosomal dominant
  • p.Gly222Arg Single submitter hypertrophic osteoarthropathy, primary, autosomal dominant
  • p.Gly255Glu Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Gly369Asp Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Gly554Arg Single submitter hypertrophic osteoarthropathy, primary, autosomal dominant
  • p.Leu56fs Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Leu72fs Single submitter primary hypertrophic osteoarthropathy
  • p.Phe278fs Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Ser264_Ser265insTer Single submitter
  • p.Ser432fs Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Thr422fs Single submitter
  • p.Trp147Ter Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Tyr90Ter Single submitter
  • p.Val341fs Single submitter
  • c.1106-1G>A No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • c.1461+1G>C No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • c.1814+1G>A No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • c.861+2T>C No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • c.97-1G>A No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Ala286fs No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Arg252Ter No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Asn365Lys No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Gln556His No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Glu141Ter No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Glu60Lys No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Gly255Arg No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Ile101Ser No assertion criteria hypertrophic osteoarthropathy, primary, autosomal dominant
  • p.Ile85Phe No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Trp253Ter No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2

Pathogenic/Likely pathogenic 4

  • p.Arg591Ter Multiple submitters hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Cys420Phe Multiple submitters hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Gly104Arg Multiple submitters SLCO2A1-related disorder
  • p.Gly183Arg Multiple submitters SLCO2A1-related disorder

Likely pathogenic 25

  • p.Arg97His Multiple submitters SLCO2A1-related disorder
  • c.1625+6T>C Single submitter
  • c.1691-2A>T Single submitter hypertrophic osteoarthropathy, primary, autosomal dominant
  • c.398-2A>G Single submitter
  • c.83_96+8del Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Asn534Lys Single submitter hypertrophic osteoarthropathy, primary, autosomal dominant ⚠
  • p.Gln45Ter Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Glu427_Pro430del Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Gly183Glu Single submitter SLCO2A1-related disorder
  • p.Gly255Ter Single submitter hypertrophic osteoarthropathy, primary, autosomal dominant
  • p.Gly384fs Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Leu563Arg Single submitter
  • p.Met539fs Single submitter SLCO2A1-related disorder
  • p.Phe221fs Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Phe277fs Single submitter SLCO2A1-related disorder
  • p.Ser339Phe Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2 ⚠
  • p.Tyr207Ter Single submitter SLCO2A1-related disorder
  • p.Tyr223Ter Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Tyr357His Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • c.1106-1G>C No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Gln177Ter No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Gly29fs No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Pro205Leu No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Val413fs No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Val509fs No assertion criteria hypertrophic osteoarthropathy, primary, autosomal recessive, 2

Conflicting classifications of pathogenicity 10

  • c.234+1G>A Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2
  • p.Ala281Val Single submitter Inborn genetic diseases ⚠
  • p.Ala302Pro Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2 ⚠
  • p.Ala362Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala500Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg542Cys Single submitter hypertrophic osteoarthropathy, primary, autosomal dominant ⚠
  • p.Asn462Ser Single submitter ⚠
  • p.Asn478Lys Single submitter Inborn genetic diseases ⚠
  • p.Lys503Asn Single submitter Inborn genetic diseases ⚠
  • p.Pro162Ala Single submitter hypertrophic osteoarthropathy, primary, autosomal recessive, 2 ⚠

Benign 29

Benign/Likely benign 7

Likely benign 119

Uncertain significance 124