ClinVar Miner

List of variants in gene GLI1 studied for preaxial polydactyly of fingers

Included ClinVar conditions (9):

Cryptorchidism; Triphalangeal thumb; Inguinal hernia; Feeding difficulties; Hemivertebrae; Constipation; Oligohydramnios; Hydroureter; Abnormal facial shape; Penile hypospadias; Strabismus; Intellectual disability; Generalized hypotonia; Mitral stenosis; Fetal pyelectasis; Patent ductus arteriosus after premature birth; Perimembranous ventricular septal defect; Neurodevelopmental delay; Bicuspid aortic valve
Epicanthus; Micrognathia; Posteriorly rotated ears; Hearing impairment; Feeding difficulties; Optic nerve hypoplasia; Tall stature; Nystagmus; Tracheomalacia; Stereotypic movement disorder; Abnormal facial shape; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Short philtrum; Abnormality of eye movement; Impaired social interactions; Preaxial hand polydactyly; Decreased fetal movement; Broad toe; Generalized non-motor (absence) seizure; Ankle flexion contracture; Reduced visual acuity; Hypoplastic helices; 1-2 finger syndactyly; Intellectual disability, severe; Severe global developmental delay; Gastrostomy tube feeding in infancy; Thick vermilion border
Greig cephalopolysyndactyly syndrome; Hamartoma of hypothalamus; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1
Hypertelorism; Triphalangeal thumb; Global developmental delay; Motor delay; Low-set ears; Anteriorly placed anus; Broad forehead; Broad hallux; Delayed speech and language development; Frontal bossing; High forehead; Joint hypermobility; Bilateral triphalangeal thumbs; Finger syndactyly
Polydactyly of a triphalangeal thumb
Polysyndactyly 4
Preaxial hand polydactyly
Triphalangeal thumb

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_005269.3(GLI1):c.3298G>C (p.Glu1100Gln)	rs2228226	0.68037
NM_005269.3(GLI1):c.2798G>A (p.Gly933Asp)	rs2228224	0.47688
NM_005269.3(GLI1):c.576G>A (p.Glu192=)	rs2228225	0.47502
NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln)	rs753690500	0.00001

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