ClinVar Miner

List of variants in gene ALG1, EEF2KMT studied for congenital disorder of glycosylation type I

Included ClinVar conditions (31):

ALG12-congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
Carbohydrate-deficient glycoprotein syndrome type I
Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1C
Congenital disorder of glycosylation type 1D
Congenital disorder of glycosylation type 1E
Congenital disorder of glycosylation type 1F
Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H; POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS
Congenital disorder of glycosylation type 1I
Congenital disorder of glycosylation type 1I; Myasthenic syndrome, congenital, 14
Congenital disorder of glycosylation type 1J
Congenital disorder of glycosylation type 1J; Congenital myasthenic syndrome 13
Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1M
Congenital disorder of glycosylation type 1N
Congenital disorder of glycosylation type 1O
Congenital disorder of glycosylation type 1P
Congenital disorder of glycosylation type 1Q
Congenital disorder of glycosylation type 1t
Congenital disorder of glycosylation type 1u
Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1x
Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type Ir
Epileptic encephalopathy, early infantile, 36
Epileptic encephalopathy, early infantile, 50
Gillessen-Kaesbach-Nishimura syndrome

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP
NC_000016.9:g.(?_5130947)_(5147740_?)del
NM_201400.4(EEF2KMT):c.*804G>A	rs1047747

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