"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MOGS"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 964815	NM_006302.3(MOGS):c.2363G>A (p.Arg788His)	MOGS (R788H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 465840	NM_006302.3(MOGS):c.2112C>T (p.Pro704=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GBenign/Likely benign
Select item 565682	NM_006302.3(MOGS):c.2062G>A (p.Ala688Thr)	MOGS (A688T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95358	NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln)	MOGS (R613Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 654265	NM_006302.3(MOGS):c.1130A>G (p.Gln377Arg)	MOGS (Q271R +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 653283	NM_006302.3(MOGS):c.476A>T (p.Gln159Leu)	MOGS (Q159L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 127098	NM_006302.3(MOGS):c.370C>T (p.Gln124Ter)	MOGS (Q124* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation +1 more	GPathogenic
Select item 441235	NM_006302.3(MOGS):c.65C>A (p.Ala22Glu)	MOGS (A22E)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance