ClinVar Miner

Variants studied for Autistic disorder of childhood onset; Cryptorchidism; Hypertelorism; Gastroschisis; Clubfoot; Coarctation of aorta; Tetralogy of Fallot; Sensorineural hearing loss; Skeletal dysplasia; Congenital ocular coloboma; Anterior segment anomalies; Cerebellar ataxia; Esophageal atresia; Congenital omphalocele; Atrial septal defect; Cardiomyopathy; Dystonia; Cleft upper lip; Global developmental delay; Hemihypertrophy; Seizures; Short stature; Failure to thrive; Toe syndactyly; Visual impairment; Hypotelorism; Behavioral abnormality; Cataract (disease); Scoliosis; Tall stature; Spasticity; Ambiguous genitalia; Nystagmus; Microphthalmia; Abnormality of the vertebral column; Abnormal facial shape; Blue sclerae; Complete atrioventricular canal defect; Conductive hearing impairment; Delayed speech and language development; Flexion contracture; Preauricular pit; Preauricular skin tag; Specific learning disability; Arrhythmia; Preaxial polydactyly; Hypospadias, penile; Abnormality of the ureter; Horseshoe kidney; Renal cyst; Microcephaly; Macrocephalus; Abnormality of the outer ear; Abnormality of the inner ear; Abnormal retinal morphology; Abnormality of the cornea; Strabismus; Abnormality of the optic nerve; Congenital diaphragmatic hernia; Abnormality of the urethra; Osteopenia; Hyperpigmentation of the skin; Hypopigmentation of the skin; Hand oligodactyly; Intellectual disability, mild; Generalized hypotonia; Craniosynostosis; Cholestasis; Exocrine pancreatic insufficiency; Camptodactyly of toe; Foot oligodactyly; Morphological abnormality of the central nervous system; Chorea; Delayed gross motor development; Aganglionic megacolon; Intellectual disability, moderate; Tracheoesophageal fistula; Increased susceptibility to fractures; Elevated hepatic transaminases; Increased body weight; Decreased body weight; Capillary hemangiomas; Finger syndactyly; Lower limb undergrowth; Upper limb undergrowth; Delayed fine motor development; Intellectual disability, severe; Vascular skin abnormality; Camptodactyly of finger; Spinal dysraphism; Abnormality of the lung; Ventricular septal defect; Attention deficit hyperactivity disorder; Cleft palate; Diabetes mellitus; Postaxial polydactyly

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
1 0 0 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic total
COL1A1 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic total
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1

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