ClinVar Miner

List of variants studied for enophthalmos by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (15):

Acanthosis nigricans; Obesity; Global developmental delay; Abnormality of skin pigmentation; Tapered finger; Deeply set eye; Macrotia; Abnormal facial shape; Anteverted nares; Macroorchidism; Abnormality of the dentition; Carious teeth; Gynecomastia; Hyperpigmentation of the skin; Long ear
Astigmatism; Microphthalmia; Deeply set eye; Hypermetropia; Microcephaly; Trichiasis; Progeroid facial appearance; Anisometropia; Psychomotor retardation
Autism; Epicanthus; Failure to thrive; Dental crowding; High palate; Hypertonia; Deeply set eye; Mandibular prognathia; Bulbous nose; Shallow orbits; Hypotonia
Autism; Pectus excavatum; Esotropia; Global developmental delay; Seizure; Short stature; Failure to thrive; Deeply set eye; Clinodactyly of the 5th finger; Abnormal nonverbal communicative behavior; Generalized hypotonia; Chorea; Secondary microcephaly; Focal white matter lesions
Epicanthus; Short phalanx of finger; Hypertonia; Brachycephaly; Deeply set eye; Macrotia; Short nose; Wide mouth; Hydrocele testis; Umbilical hernia; Hypoplastic nasal bridge
Failure to thrive; Weight loss; Feeding difficulties; Growth delay; Brachycephaly; Deeply set eye; Pointed chin; Malar flattening; Narrow mouth; Agitation; Nephrolithiasis; Reduced eye contact; Panhypopituitarism; Lower limb spasticity; Generalized myoclonic seizure; Episodic abdominal pain; Limb joint contracture; Upper limb spasticity; Prominent forehead; Severe global developmental delay; Decreased activity of mitochondrial complex III
Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development
Hyperactivity; Seizure; Deeply set eye; Intellectual disability; Poor speech; Secondary microcephaly; Exostoses
Micrognathia; Aggressive behavior; High palate; Deeply set eye; Micropenis; Prominent nasal bridge; Large hands; Large for gestational age; Mild global developmental delay; Short palpebral fissure
Obesity; Global developmental delay; Seizure; Short stature; Genu valgum; Deeply set eye; Dysarthria; Delayed speech and language development; Specific learning disability; Broad face; Prominent nasal bridge; Strabismus; Diastema; Swan neck-like deformities of the fingers; Metatarsus valgus; Increased overbite
Seizure; Deeply set eye; Microcephaly
Seizure; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development
Seizure; Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech 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
Short stature; Deeply set eye; Agenesis of permanent teeth; Microcephaly; Splenomegaly

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	rs120074160	0.00099
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)	rs1332140763	0.00003

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