ClinVar Miner

List of variants reported as not provided for multiple epiphyseal dysplasia by GeneReviews

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, type 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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_002381.5(MATN3):c.209G>A (p.Arg70His)	rs104893640	0.00012
NM_002381.5(MATN3):c.693G>C (p.Lys231Asn)	rs773642745	0.00004
NM_002381.5(MATN3):c.656C>A (p.Ala219Asp)	rs28939677	0.00003
NM_000095.3(COMP):c.500G>A (p.Gly167Glu)	rs763887855	0.00001
NM_002381.5(MATN3):c.659T>C (p.Val220Ala)	rs187943382	0.00001
NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del)	rs2145902176
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)	rs1601054715
NM_000095.3(COMP):c.1156_1158del (p.Asn386del)	rs397515510
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)	rs137852654
NM_000095.3(COMP):c.1665C>A (p.Asn555Lys)	rs397515511
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	rs312262900
NM_000095.3(COMP):c.1754C>T (p.Thr585Met)	rs312262900
NM_000095.3(COMP):c.1813G>A (p.Asp605Asn)	rs397515512
NM_000095.3(COMP):c.2042C>G (p.Ser681Cys)	rs397515513
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	rs28936368
NM_000095.3(COMP):c.2153G>C (p.Arg718Pro)	rs149551600
NM_002381.5(MATN3):c.359C>T (p.Thr120Met)	rs397515546
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)	rs104893637
NM_002381.5(MATN3):c.400G>A (p.Glu134Lys)	rs2103484088
NM_002381.5(MATN3):c.437T>G (p.Leu146Arg)	rs2103484073
NM_002381.5(MATN3):c.513_530del (p.Asp171_Val176del)	rs2103484013
NM_002381.5(MATN3):c.518C>A (p.Ala173Asp)	rs779413744
NM_002381.5(MATN3):c.575T>A (p.Ile192Asn)	rs2103483989
NM_002381.5(MATN3):c.581T>A (p.Val194Asp)	rs104893645
NM_002381.5(MATN3):c.584C>A (p.Thr195Lys)	rs765225021
NM_002381.5(MATN3):c.626G>C (p.Arg209Pro)	rs749845872
NM_002381.5(MATN3):c.652T>A (p.Tyr218Asn)	rs2103483937

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