ClinVar Miner

List of variants in gene TRPV4 reported as uncertain significance for bent bone dysplasia

Included ClinVar conditions (16):

ACAMPOMELIC CAMPOMELIC DYSPLASIA
ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Neoplasm of stomach; Bent bone dysplasia syndrome 1
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer; LADD syndrome 1
Bent bone dysplasia
Bent bone dysplasia syndrome 1
Bent bone dysplasia syndrome 2
Brachyrachia (short spine dysplasia); Familial digital arthropathy-brachydactyly; Metatropic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepimetaphyseal dysplasia, Maroteaux type; Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C; Avascular necrosis of femoral head, primary, 2
Brachyrachia (short spine dysplasia); Familial digital arthropathy-brachydactyly; Metatropic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepimetaphyseal dysplasia, Maroteaux type; Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease axonal type 2C; Avascular necrosis of femoral head, primary, 2
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
Camptomelic dysplasia
Kyphomelic dysplasia
Parastremmatic dwarfism
Stuve-Wiedemann syndrome
Stüve-Wiedemann syndrome 1

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)	rs779715512	0.00015
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys)	rs199624080	0.00005
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg)	rs201132615	0.00002
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter)	rs372452565	0.00002
NM_021625.5(TRPV4):c.1469A>G (p.Tyr490Cys)	rs745759761	0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)	rs770149544	0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)	rs375851168	0.00001
NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu)	rs764622721	0.00001
NM_021625.5(TRPV4):c.1215G>C (p.Lys405Asn)	rs377712684
NM_021625.5(TRPV4):c.1667A>C (p.Tyr556Ser)
NM_021625.5(TRPV4):c.1919C>T (p.Ala640Val)	rs2548718815
NM_021625.5(TRPV4):c.2321G>A (p.Arg774His)	rs768220461
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met)	rs1031096826
NM_021625.5(TRPV4):c.658A>G (p.Thr220Ala)

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