ClinVar Miner

List of variants studied for congenital vitreoretinal dysplasia by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000010.11:g.68247368_68253890del
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly)	rs886040977
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr)	rs1057519574
NM_002335.4(LRP5):c.4489-2A>G	rs1057519575

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