ClinVar Miner

List of variants in gene ALG8 reported as likely pathogenic for autosomal dominant polycystic liver disease

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_024079.5(ALG8):c.673+4A>G	rs1470636347	0.00003
NM_024079.5(ALG8):c.368+2T>G	rs756894409	0.00001
NM_024079.5(ALG8):c.95+1G>A	rs1323512637	0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs)	rs777686455	0.00001
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)	rs200888240
NM_024079.5(ALG8):c.460G>A (p.Gly154Arg)
NM_024079.5(ALG8):c.544C>T (p.Gln182Ter)
NM_024079.5(ALG8):c.710_719dup (p.Leu241fs)	rs2136903056
NM_024079.5(ALG8):c.761dup (p.Pro255fs)	rs968741434
NM_024079.5(ALG8):c.802del (p.Arg268fs)	rs2136899636
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp)	rs121908294
NM_024079.5(ALG8):c.828_829del (p.Cys277fs)

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