NM_198239.2(CCN6):c.862_863dup (p.Gln289fs)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided|CCN6-related disorder
β
β
ββ2026β Residue 289
NM_198239.2(CCN6):c.589G>C (p.Ala197Pro)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β
β
ββ2026β Residue 197
NM_198239.2(CCN6):c.624dup (p.Cys209fs)Pathogenic
not provided|Progressive pseudorheumatoid dysplasia
β
β
ββ2025β Residue 209
NM_198239.2(CCN6):c.116C>A (p.Ser39Ter)Pathogenic
not provided|Progressive pseudorheumatoid dysplasia
β
β
ββ2025β Residue 39
NM_198239.2(CCN6):c.1A>G (p.Met1Val)Pathogenic
not provided|Progressive pseudorheumatoid dysplasia
β
β
ββ2025β Residue 1
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)Pathogenic
Progressive pseudorheumatoid dysplasia|See cases|not provided
β
β
ββ2025β Residue 52
NM_198239.2(CCN6):c.197G>A (p.Ser66Asn)Pathogenic
not provided|Progressive pseudorheumatoid dysplasia
β
β
ββ2025β Residue 66
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr)Pathogenic
Progressive pseudorheumatoid dysplasia
β
β
ββ2025β Residue 78
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr)Pathogenic
Inborn genetic diseases|Progressive pseudorheumatoid dysplasia|not provided
β
β
ββ2025β Residue 337
NM_198239.2(CCN6):c.49-1G>APathogenic
not provided|Progressive pseudorheumatoid dysplasia
β
β
ββ2025
NM_198239.2(CCN6):c.868_869del (p.Ser290fs)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β
β
ββ2025β Residue 290
NM_198239.2(CCN6):c.246del (p.Glu84fs)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β
β
ββ2024β Residue 84
NM_198239.2(CCN6):c.40_44del (p.Leu14fs)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β
β
ββ2024β Residue 14
NM_198239.2(CCN6):c.536_537del (p.Asn178_Cys179insTer)Pathogenic
not provided
β
β
ββ2023β Residue 178
NM_198239.2(CCN6):c.740_741del (p.Cys247fs)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β
β
ββ2023β Residue 247
NM_198239.2(CCN6):c.149G>A (p.Trp50Ter)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β
β
ββ2023β Residue 50
NM_198239.2(CCN6):c.296_298delinsTTA (p.Tyr99_Cys100delinsPheSer)Pathogenic
Progressive pseudorheumatoid dysplasia
β
β
ββ2023β Residue 99
NM_198239.2(CCN6):c.707del (p.Ser236fs)Pathogenic
not provided|Progressive pseudorheumatoid dysplasia
β
β
ββ2023β Residue 236
NM_198239.2(CCN6):c.667T>G (p.Cys223Gly)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β
β
ββ2023β Residue 223
NM_198239.2(CCN6):c.783+1_783+6delPathogenic
not provided
β
βββ2026