"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COG6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384379	NM_020751.3(COG6):c.153+19G>A	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 166919	NM_020751.3(COG6):c.898C>T (p.His300Tyr)	COG6 (H300Y)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 235506	NM_020751.3(COG6):c.1180A>G (p.Asn394Asp)	COG6 (N394D)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 432111	NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)	COG6 (L512*)	Single nucleotide variant (nonsense +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +2 more	GPathogenic/Likely pathogenic
Select item 312156	NM_020751.3(COG6):c.*315del	COG6	Deletion (3 prime UTR variant +2 more)	Congenital disorder of glycosylation +2 more	GLikely benign
Select item 312165	NM_020751.3(COG6):c.*1532T>G	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance

ClinVar