ClinVar Miner

List of variants reported as benign for type 2 collagenopathy by Mendelics

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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_212482.4(FN1):c.44A>T (p.Gln15Leu)	rs1250259	0.79353
NM_001844.5(COL2A1):c.2194-55T>C	rs3829737	0.43071
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)	rs186233557
NM_001844.5(COL2A1):c.2679+69dup	rs11443755

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