ClinVar Miner

List of variants studied for Stickler syndrome by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (22):

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; Spondyloepiphyseal dysplasia with metatarsal shortening; 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; Spondyloepiphyseal dysplasia with metatarsal shortening; 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; Spondyloepiphyseal dysplasia with metatarsal shortening; 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; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, Stanescu type
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Hypochondrogenesis; Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Osteoarthritis; Spondyloepimetaphyseal dysplasia, Strudwick type
Autosomal dominant rhegmatogenous retinal detachment
Epiphyseal dysplasia, multiple, 2; Intervertebral disc disorder; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4
Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37
Marshall syndrome; Stickler syndrome type 2
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37
Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, IIa 6
Stickler syndrome, type 4
Stickler syndrome, type 5
Stickler syndrome, type I, nonsyndromic ocular

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met)	rs886043832	0.00001
NM_001851.6(COL9A1):c.1150C>T (p.Pro384Ser)	rs148751593	0.00001

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