ClinVar Miner

List of variants reported as not provided for congenital vitreoretinal dysplasia

Included ClinVar conditions (23):

Atrophia bulborum hereditaria
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Postmenopausal osteoporosis; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts
Cerebroretinal microangiopathy with calcifications and cysts 1
Cerebroretinal microangiopathy with calcifications and cysts 2
Cerebroretinal microangiopathy with calcifications and cysts 3
Coats plus syndrome
Complete trisomy 13 syndrome
Exudative retinopathy
Exudative retinopathy; Cerebellar ataxia; Dystonic disorder; Abnormal facial shape
Exudative retinopathy; Familial exudative vitreoretinopathy
Exudative retinopathy; Retinal detachment; Cataract; Nystagmus; Blindness; Rod-cone dystrophy; Progressive visual loss; Retinal exudate; Abnormality of retinal pigmentation; Monocular strabismus; Optic disc drusen
Exudative vitreoretinopathy 4; Autosomal dominant osteopetrosis 1; Polycystic liver disease 1; Osteoporosis with pseudoglioma
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; LRP5-related primary osteoporosis
Immunodeficiency 33; Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Autoinflammatory disease, X-linked
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47
Incontinentia pigmenti syndrome
Osteoporosis with pseudoglioma
Persistent hyperplastic primary vitreous
Persistent hyperplastic primary vitreous, autosomal recessive
Spondylo-ocular syndrome

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)	rs4988321	0.03472
NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser)	rs1182722973	0.00001
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs)	rs782178147
NM_002335.4(LRP5):c.4349-8C>A	rs2153181939

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.