ClinVar Miner

List of variants in gene COL2A1 reported as pathogenic for achondrogenesis

Included ClinVar conditions (17):

Achondrogenesis
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
Achondrogenesis, type IA
Achondrogenesis, type IA; Goldblatt syndrome
Achondrogenesis, type IB
Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic dysplasia
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia
Acromesomelic dysplasia 2C, Hunter-Thompson type; Brachydactyly type A2; Brachydactyly type C; Grebe syndrome; Multiple synostoses syndrome 2; Acromesomelic dysplasia 2B; Brachydactyly type A1C; Symphalangism, proximal, 1B; Osteoarthritis susceptibility 5
Grebe syndrome
Hypochondrogenesis

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1267-2_1269del	rs2136576211
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp)	rs121912888
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)	rs886044555
NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val)	rs121912899
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	rs121912893
NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu)	rs1555166729
NM_001844.5(COL2A1):c.2302-1G>T
NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser)	rs121912867
NM_001844.5(COL2A1):c.2355+1G>A	rs1939124946
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	rs794727261
NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg)	rs121912879
NM_001844.5(COL2A1):c.2814del (p.Gly939fs)	rs1555165494
NM_001844.5(COL2A1):c.2858del (p.Pro953fs)	rs2136527926
NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser)	rs121912878
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser)	rs2136526515
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	rs121912874
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val)	rs765795867
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)	rs2136522964
NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu)	rs121912868
NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser)	rs121912864
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)	rs1592235241
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)	rs121912876
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)	rs1555168505

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