ClinVar Miner

List of variants in gene BLTP1 studied for congenital anomaly of the great arteries

Included ClinVar conditions (12):

Aortic arch interruption
Epicanthus; Pectus excavatum; Pulmonic stenosis; Motor delay; Autistic behavior; Constipation; Hypertonia; Ptosis; Hypermetropia; Macrotia; Abnormal facial shape; Delayed speech and language development; Prominent nose; Specific learning disability; Thin upper lip vermilion; Microcephaly; Overfolded helix; Recurrent otitis media; Prominent nasal bridge; Delayed closure of the anterior fontanelle; Broad foot; Dyscalculia; Finger syndactyly
Hemivertebrae; Renal agenesis; Right aortic arch
Pulmonic stenosis
Pulmonic stenosis; Atrial septal defect; Autistic behavior; Aggressive behavior; Constipation; Aspiration; Coarse facial features; Delayed speech and language development; Emotional lability; Dry skin; Thickened skin; Severe global developmental delay; Asthma
Pulmonic stenosis; Intellectual disability; Noonan-like facies
Pulmonic stenosis; Isolated Pierre-Robin syndrome; Tapered finger; Tricuspid regurgitation; Abnormal facial shape; Overlapping toe; Ovarian cyst; Calcaneovalgus deformity; Abnormal muscle tone; Short metatarsal; Left-to-right shunt; Short palpebral fissure; Blue nevus; Cleft palate; Patent ductus arteriosus
Pulmonic stenosis; Short stature; Ptosis; Abnormal sternum morphology
Pulmonic stenosis; Supravalvar aortic stenosis
Pulmonic stenosis; Tricuspid regurgitation; Pulmonary valve atresia
Pulmonic stenosis; Webbed neck; Downslanted palpebral fissures; Premature birth; Wide intermamillary distance; High forehead; Low-set, posteriorly rotated ears; Ventricular hypertrophy; Neonatal respiratory distress; Ventricular septal defect
Scimitar syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001384125.1(BLTP1):c.14113+11G>C	rs1381896643
NM_001384125.1(BLTP1):c.9153del (p.Val3052fs)	rs1773935759

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