ClinVar Miner

List of variants in gene COL2A1 reported as likely pathogenic for achondrogenesis type II

Included ClinVar conditions (8):

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu)	rs2136577158
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu)	rs868417981
NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser)	rs2136568585
NM_001844.5(COL2A1):c.1680+2T>G	rs1565681966
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	rs121912884
NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val)	rs1447463543
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp)	rs2136551606
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del)	rs2136526614
NM_001844.5(COL2A1):c.292+2T>A
NM_001844.5(COL2A1):c.2995G>T (p.Gly999Cys)	rs2136526244
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del)	rs1555165335
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)	rs1555165245
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)	rs1555165242
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)	rs1057518911
NM_001844.5(COL2A1):c.4345_4346del (p.Val1449fs)

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