ClinVar Miner

List of variants reported as pathogenic for autosomal dominant polycystic liver disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (14):

ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts
Autosomal dominant polycystic liver disease
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
Exudative vitreoretinopathy 4; Autosomal dominant osteopetrosis 1; Polycystic liver disease 1; Osteoporosis with pseudoglioma
Polycystic kidney disease, adult type; Autosomal dominant polycystic liver disease
Polycystic liver disease 1
Polycystic liver disease 1; Aortic dilatation; Aortic dissection; Ascending aortic dissection
Polycystic liver disease 1; Polycystic kidney disease
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia; Cystic renal dysplasia
Polycystic liver disease 2
Polycystic liver disease 3 with or without kidney cysts
Polycystic liver disease 4 with or without kidney cysts

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	rs376161880	0.00010
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter)	rs768568123	0.00001
NM_001289104.2(PRKCSH):c.1191dup (p.Ile398fs)	rs1970419486
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs)	rs779685748
NM_007214.5(SEC63):c.1094dup (p.Asn365fs)
NM_007214.5(SEC63):c.733+1G>A	rs886041028

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.