Related gene-specific medical variations for Gene (Select 57511) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362358	NM_020751.3(COG6):c.1907A>G (p.Asn636Ser)	COG6 (N636S)	Single nucleotide variant (missense variant +2 more)	COG6-congenital disorder of glycosylation	GLikely pathogenic
Select item 3065602	NM_020751.3(COG6):c.1826+2T>C	COG6	Single nucleotide variant (splice donor variant)	COG6-congenital disorder of glycosylation	GLikely pathogenic
Select item 2439180	NM_020751.3(COG6):c.789-1G>T	COG6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1527768	GRCh37/hg19 13q14.11(chr13:40327812-40380478)	COG6	Copy number loss	not specified	GUncertain significance
Select item 1294342	NM_020751.3(COG6):c.153+50C>T	COG6, LOC130009594	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688225	GRCh37/hg19 13q14.11(chr13:40329397-40380244)x1	COG6	Copy number loss	not provided	GPathogenic
Select item 445794	NM_020751.3(COG6):c.483A>C (p.Gln161His)	COG6 (Q161H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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