ClinVar Miner

List of variants studied for type 2 collagenopathy by GeneReviews

Included ClinVar conditions (29):

Achondrogenesis type II
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Legg-Calve-Perthes disease; Kniest dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Czech dysplasia, metatarsal type; Spondyloepiphyseal dysplasia, Stanescu type
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia - Sutcliffe type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4; Spondyloepiphyseal dysplasia, Stanescu type
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, Stanescu type
Achondrogenesis type II; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Platyspondylic dysplasia, Torrance type; Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Hypochondrogenesis; Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Osteoarthritis; Spondyloepimetaphyseal dysplasia, Strudwick type
Autosomal dominant rhegmatogenous retinal detachment
Avascular necrosis of femoral head, primary, 1
Czech dysplasia, metatarsal type
Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type
Hypochondrogenesis
Kniest dysplasia
Kniest dysplasia; Spondyloepimetaphyseal dysplasia, Strudwick type
Legg-Calve-Perthes disease
Legg-Calve-Perthes disease; Juvenile osteochondrosis of spine
Legg-Calve-Perthes disease; Sensorineural hearing loss disorder; Incomplete partition of the cochlea type II; Juvenile rheumatoid arthritis; Telangiectasia of the skin
Multiple epiphyseal dysplasia, Beighton type
Namaqualand hip dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia, Stanescu type
Spondylometaphyseal dysplasia - Sutcliffe type
Spondyloperipheral dysplasia
Stickler syndrome type 1
Stickler syndrome, type I, nonsyndromic ocular
Type 2 collagenopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1034G>A (p.Gly345Asp)	rs1939617011
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)	rs121912885
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser)	rs886039542
NM_001844.5(COL2A1):c.541G>C (p.Ala181Pro)	rs1939975439
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del)	rs1553636502
NM_212482.4(FN1):c.260G>T (p.Cys87Phe)	rs1553669703
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp)	rs1553659131

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