ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant prognathism by Dongguan Key Laboratory of Genetics and Infectious Diseases, Dongguan Institute of Pediatrics

Included ClinVar conditions (8):

Autism; Epicanthus; Failure to thrive; Dental crowding; High palate; Hypertonia; Deeply set eye; Mandibular prognathia; Bulbous nose; Shallow orbits; Hypotonia
Autism; Macroglossia; Global developmental delay; Seizure; Hallux valgus; Cognitive impairment; Aggressive behavior; Coarse facial features; Mandibular prognathia; 2-3 toe syndactyly; Bulbous nose; Frontal bossing; Thick lower lip vermilion; Widely spaced teeth; Intellectual disability; Short toe; Clinodactyly of the 5th toe; Intellectual disability, profound; Abnormal aggressive, impulsive or violent behavior; Slit-like opening of the exterior auditory meatus; Shortening of all phalanges of fingers; Profound global developmental delay
Epicanthus; Ebstein anomaly; Congenital ectopic pupil; Atrial septal defect; Motor delay; Visual impairment; Long palpebral fissure; Atrial septal defect, ostium secundum type; Mandibular prognathia; Broad forehead; Cyanosis; Premature birth; Shawl scrotum; Short neck; Short nose; Anterior synechiae of the anterior chamber; Square face; Long philtrum; Sclerocornea; Pulmonary artery stenosis; Respiratory failure requiring assisted ventilation; Corneal opacity; Prominent forehead; Mild global developmental delay; Generalized opacification of the cornea; Chin with horizontal crease; Wide nasal base
Epicanthus; Hypertelorism; Esotropia; Hirsutism; Macrotia; Mandibular prognathia; Depressed nasal bridge; Prominent nose; Abnormality of the tongue; Gingival overgrowth; Delayed eruption of primary teeth; Thickened skin; Short columella; Facial hyperostosis; Concave nasal ridge; Long upper lip
Mandibular prognathia
Obesity; Malar flattening; Mandibular prognathia; Delayed speech and language development; Thin upper lip vermilion; Tooth malposition; Poor fine motor coordination; Infantile muscular hypotonia; Attention deficit hyperactivity disorder
Seizure; Fetal growth restriction; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development
Seizure; Syndactyly; Tapered finger; Deeply set eye; Pointed chin; Mandibular prognathia; Abnormal facial shape; Thin upper lip vermilion; Underdeveloped nasal alae; Intellectual disability; Toe clinodactyly; Asymmetry of the ears

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_015701.5(ERLEC1):c.1448A>G (p.Asn483Ser)	rs146951835	0.00005
NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr)	rs1373789245
NM_015701.5(ERLEC1):c.419C>G (p.Thr140Ser)	rs751933066
NM_015701.5(ERLEC1):c.419C>T (p.Thr140Ile)	rs751933066

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