ClinVar Miner

List of variants in gene TENM3 reported as pathogenic for coloboma

Included ClinVar conditions (42):

Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Congenital ocular coloboma
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; Coloboma, ocular, autosomal dominant
Aniridia 1; Foveal hypoplasia 1; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant
Astigmatism; Congenital ocular coloboma; Patent foramen ovale; Premature birth; Abnormality of the face
Autism; Motor delay; Iris coloboma; Delayed speech and language development; Abnormality of vision
Coloboma of optic nerve
Coloboma of optic nerve; Piebaldism; Unsteady gait; Conductive hearing impairment; Hyperpigmentation of the skin; Bruising susceptibility; Hypopigmented skin patches; Intellectual disability, mild; Joint laxity; Bulbous tips of toes; White forelock; Abnormality of thyroid physiology; Reduced visual acuity; Lower limb asymmetry; Hyperconvex toenail; Ventricular septal defect
Coloboma of optic nerve; Seizure; Choreoathetosis; Polymicrogyria; Intellectual disability; Abnormality of neuronal migration; Cerebellar dysplasia; Chorioretinal lacunae; Neurodevelopmental delay
Coloboma, ocular, autosomal dominant
Coloboma, ocular, autosomal recessive
Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay
Congenital ocular coloboma
Congenital ocular coloboma; Congenital heart disease; Failure to thrive; Horseshoe kidney; Microcephaly; Dysmorphism; Hearing loss; imperforated anus; bilateral optic disc gliosis; Sacral dysplasia; Seziures
Congenital ocular coloboma; Global developmental delay; Visual impairment; Nystagmus; Absent speech; Barrel-shaped chest; Kidney damage; Cerebellar vermis hypoplasia; Tremor; Pancreatitis; Cerebellar malformation; Peritonitis; Infantile muscular hypotonia; Intellectual disability, severe
Congenital ocular coloboma; Microphthalmia
Congenital ocular coloboma; Microphthalmia; Dysplastic corpus callosum
Congenital ocular coloboma; Overgrowth; Macrocephaly; Large hands; Congenital anomaly of face; Learning disability
Congenital ocular coloboma; intellectual deficiency; Hypotonia
Epicanthus; Hypertelorism; Esotropia; High palate; Low-set ears; EEG abnormality; Iris coloboma; Nystagmus; Microphthalmia; Short neck; Amblyopia; Abnormality of visual evoked potentials; Lens subluxation
Familial pseudohyperkalemia; Langereis blood group; Microphthalmia, isolated, with coloboma 7; Dyschromatosis universalis hereditaria 3
Familial pseudohyperkalemia; Microphthalmia, isolated, with coloboma 7; Dyschromatosis universalis hereditaria 3
Global developmental delay; Seizure; Abnormal corpus callosum morphology; Microphthalmia, isolated, with coloboma
Holoprosencephaly 3; Microphthalmia, isolated, with coloboma 5; Solitary median maxillary central incisor syndrome
Holoprosencephaly 3; Microphthalmia, isolated, with coloboma 5; Solitary median maxillary central incisor syndrome; Schizencephaly
Hypertelorism; Congenital cleft nose; Low-set ears; Tessier cleft; Facial asymmetry; Upper eyelid coloboma; Limbal dermoid; Pericallosal lipoma; Skin tags; Abnormal frontal bone morphology
Hypertelorism; Congenital ocular coloboma; Abnormal facial shape; Wide nose; Epicanthus inversus; Congenital ptosis; Midface retrusion
Iris coloboma
Iris coloboma; Nystagmus; Generalized hypotonia; Cerebellar vermis hypoplasia
Isolated microphthalmia 2; Microphthalmia, isolated, with coloboma 3
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17; Multiple synostoses syndrome 4
Klippel-Feil syndrome 3, autosomal dominant; Isolated microphthalmia 7; Microphthalmia, isolated, with coloboma 6
MICROPHTHALMIA, SYNDROMIC 15
Microphthalmia, isolated, with coloboma 10
Microphthalmia, isolated, with coloboma 3
Microphthalmia, isolated, with coloboma 5
Microphthalmia, isolated, with coloboma 6
Microphthalmia, isolated, with coloboma 7
Microphthalmia, isolated, with coloboma 8
Microphthalmia, isolated, with coloboma 9
Microphthalmia/coloboma 11

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp)	rs755000701	0.00001
NM_001080477.4(TENM3):c.1558C>T (p.Arg520Ter)	rs919662130
NM_001080477.4(TENM3):c.1857T>A (p.Cys619Ter)	rs1579099615
NM_001080477.4(TENM3):c.2083dup (p.Thr695fs)	rs587776950
NM_001080477.4(TENM3):c.2279G>A (p.Trp760Ter)	rs2152678398
NM_001080477.4(TENM3):c.2968-2A>T	rs886037853
NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly)	rs1243762658

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.