ClinVar Miner

Variants studied for Hypertelorism; Coarctation of aorta; Tetralogy of Fallot; Congenital ocular coloboma; Anterior segment anomalies; Cerebellar ataxia; Atrial septal defect; Cardiomyopathy; Dystonia; Cleft upper lip; Global developmental delay; Seizures; Visual impairment; Hypotelorism; Cataract (disease); Tall stature; Spasticity; Nystagmus; Microphthalmia; Deeply set eye; Complete atrioventricular canal defect; Delayed speech and language development; Myopia (disease); Specific learning disability; Arrhythmia; Abnormal retinal morphology; Abnormality of the cornea; Strabismus; Abnormality of the optic nerve; Hyperpigmentation of the skin; Hypopigmentation of the skin; Striae distensae; Generalized hypotonia; Craniosynostosis; Mitral valve prolapse; Mitral regurgitation; Aortic regurgitation; Tricuspid valve prolapse; Aortic dilatation; Chorea; Delayed gross motor development; Elbow flexion contracture; Abnormality of connective tissue; Pulmonary artery dilatation; Mitral annular calcification; Capillary hemangiomas; Medial rotation of the medial malleolus; Ulnar deviation of finger; Crumpled ear; Patellar subluxation; Delayed fine motor development; Vascular skin abnormality; Camptodactyly of finger; Ventricular septal defect; Cleft palate; Ectopia lentis

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
0 1 0 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic total
FBN1 1 1

Submitter and significance breakdown #

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

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