ClinVar Miner

List of variants reported as likely benign for bent bone dysplasia by Illumina Laboratory Services, Illumina

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
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_001127671.2(LIFR):c.*6640dup	rs57386567	0.04066
NM_001127671.2(LIFR):c.954C>T (p.Thr318=)	rs61748202	0.00421
NM_001127671.2(LIFR):c.2498-7G>A	rs113078097	0.00306
NM_001127671.2(LIFR):c.*2570G>C	rs113730751	0.00296
NM_001127671.2(LIFR):c.*2567G>A	rs112458059	0.00295
NM_001127671.2(LIFR):c.*5125C>T	rs147202739	0.00250
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly)	rs74856317	0.00245
NM_001127671.2(LIFR):c.*398C>G	rs138772371	0.00227
NM_001127671.2(LIFR):c.*4154A>G	rs73077448	0.00077
NM_001127671.2(LIFR):c.*2712C>T	rs547688841	0.00063
NM_001127671.2(LIFR):c.*3851T>A	rs78474283	0.00019
NM_001127671.2(LIFR):c.2497+14T>G	rs541984532	0.00004
NM_000346.4(SOX9):c.*744del	rs572140615
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)	rs3729751

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