NG_008072.1:g.31174C>T NC_000012.12:g.47978329G>A NC_000012.11:g.48372112G>A NP_149162.2:p.Arg920Cys
NP_001835.3:p.Arg989Cys P02458:p.Arg989Cys NM_001844.5:c.2965C>T NM_001844.4:c.2965C>T NM_033150.3:c.2758C>T More...
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06/14/2022 |
missense|missense variant |
pathogenic|likely pathogenic |
1-9 / 100 000 |
Achondrogenesis, Langer-Saldino type; Arthroophthalmopathy, hereditary progressive; Avascular necrosis of femoral head, primary; AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; Avascular necrosis of the capital femoral epiphysis; Chondrogenesis imperfecta; Coxa plana; Czech dysplasia, metatarsal type; Epiphyseal dysplasia, multiple, with myopia and conductive deafness; Kniest dysplasia; Legg-Calve-Perthes disease; Lethal short-limbed platyspondylic dwarfism Torrance type; Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis; Multiple epiphyseal dysplasia, Beighton type; Namaqualand hip dysplasia; none provided; Osteoarthritis with mild chondrodysplasia; Osteochondritis deformans; Perthes disease; Platyspondylic dysplasia, Torrance type; Platyspondylic lethal skeletal dysplasia Torrance type; Pseudorheumatoid dysplasia progressive, with hypoplastic toes; SED congenita; SED, STANESCU TYPE; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE; Spondyloepiphyseal dysplasia congenita; SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS; Spondyloepiphyseal dysplasia, congenital type; Spondyloepiphyseal dysplasia, stanescu type; Spondylometaphyseal dysplasia; Spondyloperipheral dysplasia; Spondyloperipheral dysplasia with short ulna; Spondyloperipheral dysplasia-short ulna syndrome; Stickler syndrome type 1; STICKLER SYNDROME, ATYPICAL; Stickler syndrome, membranous vitreous type; Stickler syndrome, type I, nonsyndromic ocular; STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR; Stickler syndrome, vitreous type 1; Thanatophoric dysplasia torrance variant |