ClinVar Miner

List of variants in gene INSL3 reported as pathogenic for cryptorchidism

Included ClinVar conditions (23):

Astigmatism; Epicanthus; Cryptorchidism; Hypertelorism; Esotropia; Global developmental delay; Retrognathia; Hypermetropia; Wide nasal bridge; Intellectual disability
Autism; Cryptorchidism; Hypertelorism; Bifid uvula; Seizure; Cognitive impairment; Scoliosis; Patent foramen ovale; Prominent supraorbital ridges; Hypermetropia; Disproportionate tall stature; Pectus carinatum; Highly arched eyebrow; Overfolding of the superior helices; Talipes valgus; Chronic lung disease; Midface retrusion; Cleft palate
Autism; Cryptorchidism; Pulmonic stenosis; Sensorineural hearing loss disorder; Global developmental delay; Scoliosis; Hemivertebrae; Bilateral cleft lip and palate; Rib fusion; Abnormal sternum morphology; Bilateral cleft palate; Delayed speech and language development; Renal agenesis; Unilateral renal agenesis; Strabismus; Severely reduced visual acuity; Relative macrocephaly; Bilateral cleft lip; Cleft palate
Cryptorchidism
Cryptorchidism; Bone osteosarcoma; Ambiguous genitalia; Microcephaly; Intellectual disability, severe
Cryptorchidism; Coarctation of aorta
Cryptorchidism; Corpus callosum, agenesis of; Lissencephaly
Cryptorchidism; Developmental cataract; Hypertrichosis; Abnormal corpus callosum morphology; Bilateral microphthalmos; Low-set ears; Spasticity; Absent speech; Rigidity; Thoracolumbar scoliosis; Humeral cortical thickening; Cortical thickening of humeral diaphysis; Cerebral hypomyelination; Congenital ptosis; Infantile axial hypotonia; Intellectual disability, severe; Cleft palate; Movement disorder
Cryptorchidism; Duane retraction syndrome; Atrial septal defect; Global developmental delay; Abnormal cardiovascular system morphology; Scoliosis; Growth delay; Proximal muscle weakness in lower limbs; Chronic constipation; Ventricular septal defect; Asthma
Cryptorchidism; Esotropia; Plagiocephaly; Global developmental delay; Short stature; Inguinal hernia; Nystagmus; Attention deficit hyperactivity disorder
Cryptorchidism; Fetal growth restriction; Febrile seizure (within the age range of 3 months to 6 years); Functional abnormality of male internal genitalia; Microcephaly; Intellectual disability; Delayed gross motor development; Hyperammonemia
Cryptorchidism; Fetal growth restriction; Pulmonary hypoplasia; Single umbilical artery; Penile hypospadias; Microretrognathia; Long philtrum; Congenital diaphragmatic hernia; Right ventricular hypertrophy
Cryptorchidism; Global developmental delay; Autistic behavior; Expressive language delay; Seizure; Failure to thrive; Growth delay; Receptive language delay; Abnormal facial shape; Unilateral renal agenesis; Anxiety; Missing ribs; Delayed gross motor development; Delayed fine motor development; Dilatation of the sinus of Valsalva
Cryptorchidism; Global developmental delay; Macrocephaly; Generalized hypotonia
Cryptorchidism; Global developmental delay; Seizure; Abnormality of the anterior fontanelle; Macrocephaly; Deep plantar creases; Abnormal cerebral white matter morphology; Central hypotonia
Cryptorchidism; Hypertelorism; Clubfoot; Tapered finger; Abnormal facial shape; Short nose; Intellectual disability; Short distal phalanx of toe; Neuropathic spinal arthropathy
Cryptorchidism; Hypertrichosis; Global developmental delay; Hypothyroidism; Abnormal facial shape; Absent speech; Penile hypospadias; Hypotonia
Cryptorchidism; Motor delay; Hallux valgus; Sacral dimple; Axial hypotonia; Ulnar deviation of the hand; Appendicular hypotonia; Absent vas deferens; Heart murmur
Cryptorchidism; Neurodevelopmental delay
Cryptorchidism; Sensorineural hearing loss disorder; High palate; Pes planus; Delayed speech and language development; Macrocephaly; Strabismus; Metatarsus adductus; Sacral hypertrichosis; Moderate global developmental delay; Lumbar hypertrichosis; Camptodactyly of finger; Hypotonia
Cryptorchidism; Short nose; Microphallus
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; Cryptorchidism; Global developmental delay; Autistic behavior; Seizure; Low-set ears; Stereotypic movement disorder; Absent speech; Myopia; Macrocephaly; Impaired social interactions; Coarse hair; Thick vermilion border; Attention deficit hyperactivity disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005543.4(INSL3):c.278C>T (p.Pro93Leu)	rs104894697	0.00030
NM_005543.4(INSL3):c.305G>A (p.Arg102His)	rs121912556	0.00022
NM_005543.4(INSL3):c.304C>T (p.Arg102Cys)	rs104894698	0.00002
NM_005543.4(INSL3):c.217C>T (p.Arg73Ter)	rs398122886	0.00001
NM_005543.4(INSL3):c.330C>G (p.Asn110Lys)	rs121912555

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