Related gene-specific medical variations for Gene (Select 22796) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685876	GRCh37/hg19 1q42.2(chr1:230736222-230835071)x1	COG2	Copy number loss	not provided	GUncertain significance
Select item 2162761	NM_007357.3(COG2):c.42G>A (p.Thr14=)	COG2, LOC129932756	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 1809325	GRCh37/hg19 1q42.2(chr1:230745415-230835071)x1	COG2	Copy number loss	not provided	GUncertain significance
Select item 1691000	NM_007357.3(COG2):c.48C>A (p.Cys16Ter)	COG2, LOC129932756 (C16*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 1138482	NM_007357.3(COG2):c.36G>A (p.Pro12=)	COG2, LOC129932756	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq	GLikely benign
Select item 996958	NM_007357.3(COG2):c.1855C>T (p.Gln619Ter)	COG2 (Q618* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IIq	GLikely pathogenic

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