"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337104	NM_006302.3(MOGS):c.2353G>A (p.Gly785Ser)	MOGS (G785S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 534240	NM_006302.3(MOGS):c.2123G>A (p.Arg708His)	MOGS (R708H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 337105	NM_006302.3(MOGS):c.2032C>T (p.Arg678Trp)	MOGS (R678W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 218681	NM_006302.3(MOGS):c.2017G>A (p.Val673Ile)	MOGS (V673I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 465838	NM_006302.3(MOGS):c.1581C>A (p.Asp527Glu)	MOGS (D527E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 95360	NM_006302.3(MOGS):c.499A>C (p.Arg167=)	MOGS	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 193336	NM_006302.3(MOGS):c.249C>G (p.Ala83=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 337114	NM_006302.3(MOGS):c.85C>G (p.Arg29Gly)	LOC129934128, MOGS (R29G)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation +2 more	GBenign/Likely benign