NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|Hypertrophic osteoarthropathy, primary, autosomal dominant|not provided
★★☆☆2025→ Residue 603
NM_005630.3(SLCO2A1):c.1771C>T (p.Arg591Ter)Pathogenic
not provided|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★★☆☆2025→ Residue 591
NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★★☆☆2025→ Residue 183
NM_005630.3(SLCO2A1):c.1259G>T (p.Cys420Phe)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★★☆☆2025→ Residue 420
NM_005630.3(SLCO2A1):c.290G>A (p.Arg97His)Likely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★★☆☆2025→ Residue 97
NM_005630.3(SLCO2A1):c.940+1G>APathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided|Hepatocellular carcinoma
★★☆☆2022
NM_005630.3(SLCO2A1):c.1022del (p.Val341fs)Pathogenic
not provided
★☆☆☆2025→ Residue 341
NM_005630.3(SLCO2A1):c.764G>A (p.Gly255Glu)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★☆☆☆2025→ Residue 255
NM_005630.3(SLCO2A1):c.1688T>G (p.Leu563Arg)Likely pathogenic
not provided
★☆☆☆2025→ Residue 563
NM_005630.3(SLCO2A1):c.1660G>A (p.Gly554Arg)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal dominant|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★☆☆☆2025→ Residue 554
NC_000003.12:g.133743825_133749853delLikely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2025
NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|Hypertrophic osteoarthropathy, primary, autosomal dominant|not provided|Cervical cancer
★☆☆☆2025→ Residue 222
NM_005630.3(SLCO2A1):c.310G>A (p.Gly104Arg)Pathogenic
not provided|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2025→ Residue 104
NM_005630.3(SLCO2A1):c.830dup (p.Phe278fs)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★☆☆☆2025→ Residue 278
NM_005630.3(SLCO2A1):c.1016C>T (p.Ser339Phe)Likely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2024→ Residue 339
NM_005630.3(SLCO2A1):c.1634del (p.Asn545fs)Pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|not provided
★☆☆☆2024→ Residue 545
NM_005630.3(SLCO2A1):c.1183C>T (p.Gln395Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 395
NM_005630.3(SLCO2A1):c.1106G>A (p.Gly369Asp)Pathogenic
not provided|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2024→ Residue 369
NM_005630.3(SLCO2A1):c.1149del (p.Gly384fs)Likely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2024→ Residue 384
NM_005630.3(SLCO2A1):c.1069T>C (p.Tyr357His)Likely pathogenic
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
★☆☆☆2024→ Residue 357