ClinVar Miner

List of variants studied for multiple epiphyseal dysplasia by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (26):

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; 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 - 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 IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia
Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2
Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7
Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 2; Intervertebral disc disorder; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 3
Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder
Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder; Stickler syndrome, IIa 6
Epiphyseal dysplasia, multiple, 6
Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4
Epiphyseal dysplasia, multiple, 7
Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Carpal tunnel syndrome 2
Multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia type 5
Multiple epiphyseal dysplasia type 5; Spondyloepimetaphyseal dysplasia, matrilin-3 type; Osteoarthritis susceptibility 2
Multiple epiphyseal dysplasia, Al-Gazali type
Multiple epiphyseal dysplasia, Beighton type
Short stature; Hearing impairment; Developmental dysplasia of the hip; Scoliosis; Multiple epiphyseal dysplasia; Hypoplastic acetabulae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00106
NM_001853.4(COL9A3):c.1150C>T (p.Arg384Trp)	rs112769858	0.00004
NM_001853.4(COL9A3):c.1851C>A (p.Asp617Glu)	rs199577452	0.00004
NM_001844.5(COL2A1):c.1148G>A (p.Arg383His)	rs1417502139	0.00001
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile)	rs772889503	0.00001
NM_001844.5(COL2A1):c.725G>A (p.Arg242His)	rs1023703904	0.00001
NM_000095.3(COMP):c.1195G>A (p.Asp399Asn)	rs1555791490
NM_000095.3(COMP):c.1526A>C (p.Asp509Ala)
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)	rs121908077
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	rs104893920
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu)	rs794727202
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser)
NM_001844.5(COL2A1):c.2771G>A (p.Gly924Glu)
NM_001844.5(COL2A1):c.3040G>A (p.Gly1014Arg)
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)	rs2136522964
NM_001844.5(COL2A1):c.3293G>A (p.Gly1098Glu)
NM_001844.5(COL2A1):c.3679_3680insAA (p.Gly1227fs)
NM_001853.4(COL9A3):c.1189G>A (p.Gly397Arg)
NM_001853.4(COL9A3):c.148-1G>A	rs606231367

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