"Ambry Genetics"[submitter] AND "ALG9"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2140708	NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln)	ALG9 (R388Q +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3111433	NM_024740.2(ALG9):c.1819C>T (p.Arg607Trp)	ALG9 (R404W +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 703589	NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp)	ALG9 (R381W +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3111430	NM_024740.2(ALG9):c.1576C>G (p.Gln526Glu)	ALG9 (Q526E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333068	NM_024740.2(ALG9):c.1549C>T (p.Arg517Trp)	ALG9 (R298W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111426	NM_024740.2(ALG9):c.1261G>C (p.Ala421Pro)	ALG9 (A218P +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1042960	NM_024740.2(ALG9):c.1166C>T (p.Ala389Val)	ALG9 (A348V +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 3111424	NM_024740.2(ALG9):c.124C>T (p.Arg42Trp)	ALG9, LOC130006752 (R42W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2624204	NM_024740.2(ALG9):c.64C>G (p.Pro22Ala)	ALG9, LOC130006752 (P22A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance