"Baylor Genetics"[submitter] AND "LOC126862634"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 889657	NM_018714.3(COG1):c.1243G>C (p.Glu415Gln)	COG1, LOC126862634 (E415Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1033904	NM_018714.3(COG1):c.1274G>A (p.Arg425Gln)	COG1, LOC126862634 (R425Q)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance