"PreventionGenetics, part of Exact Sciences"[submitter] AND "COG1"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 324960	NM_018714.3(COG1):c.315+8C>T	COG1, LOC130061577	Single nucleotide variant (intron variant)	COG1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 95918	NM_018714.3(COG1):c.401C>T (p.Ser134Leu)	COG1 (S134L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 740233	NM_018714.3(COG1):c.504C>T (p.Pro168=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation +1 more	GLikely benign
Select item 3017593	NM_018714.3(COG1):c.743-4T>C	COG1	Single nucleotide variant (intron variant)	COG1-related condition +1 more	GLikely benign
Select item 2070977	NM_018714.3(COG1):c.810T>C (p.His270=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation +1 more	GLikely benign
Select item 95920	NM_018714.3(COG1):c.903G>C (p.Gln301His)	COG1 (Q301H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 95910	NM_018714.3(COG1):c.1049C>T (p.Thr350Met)	COG1, LOC126862634 (T350M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 252724	NM_018714.3(COG1):c.1712G>A (p.Arg571Gln)	COG1 (R571Q)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 3047686	NM_018714.3(COG1):c.2475C>T (p.Asp825=)	COG1	Single nucleotide variant (synonymous variant)	COG1-related condition	GLikely benign
Select item 784702	NM_018714.3(COG1):c.2682C>T (p.Asn894=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 3046114	NM_018714.3(COG1):c.2709A>G (p.Pro903=)	COG1	Single nucleotide variant (synonymous variant)	COG1-related condition	GLikely benign