ClinVar Miner

List of variants studied for enophthalmos

Included ClinVar conditions (14):

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
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: 23

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HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	rs120074160	0.00105
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)	rs1332140763	0.00003
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)	rs199885651	0.00002
NM_005916.5(MCM7):c.133C>T (p.Gln45Ter)	rs934444258	0.00001
46;X;t(X;5)(q24;q13)dn
46;XX;t(2;10)(q22;22.3)dn
46;XY;inv(2)(q11.2q33)dn
46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn
46;Y;inv(X)(q27q28)
NC_000021.8:g.(?_38007970)_(39747620_?)del
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)	rs1554169984
NM_001347721.2(DYRK1A):c.1009T>C (p.Ser337Pro)	rs724159951
NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)	rs724159956
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)	rs724159953
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn)	rs724159955
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)	rs724159949
NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs)	rs724159950
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)	rs724159948
NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs)	rs724159954
NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs)	rs724159952
NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)	rs2552210353
NM_005916.5(MCM7):c.776G>C (p.Gly259Ala)	rs758105856

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