ClinVar Miner

List of variants reported as pathogenic for bent bone dysplasia by Fulgent Genetics, Fulgent Genetics

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter)	rs199775294	0.00002
NM_001127671.2(LIFR):c.325G>T (p.Glu109Ter)	rs1746736672	0.00001
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)	rs121918487
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	rs121918491
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	rs121913478
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)	rs1554927408
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys)	rs1434545235
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	rs77543610
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	rs121918499
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)	rs121918504
NM_001127671.2(LIFR):c.1231_1234del (p.Asn411fs)	rs2531044217
NM_001127671.2(LIFR):c.1621dup (p.Thr541fs)	rs2531013834
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)	rs1745753552
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144

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