ClinVar Miner

List of variants reported as uncertain significance for achondrogenesis by Fulgent Genetics, Fulgent Genetics

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

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr)	rs114212275	0.00073
NM_004239.4(TRIP11):c.-333G>A	rs559266963	0.00038
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly)	rs142579179	0.00024
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	rs142770543	0.00019
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)	rs376772481	0.00009
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)	rs781554389	0.00001
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)	rs371440147	0.00001
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys)	rs1431778644	0.00001
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)	rs570320774	0.00001
NM_001844.5(COL2A1):c.3111+5G>A	rs1429492734	0.00001
NM_004239.4(TRIP11):c.4712G>A (p.Arg1571His)	rs534500568	0.00001
NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup)	rs760180391

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