"Baylor Genetics"[submitter] AND "COG1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033908	NM_018714.3(COG1):c.671G>A (p.Arg224His)	COG1 (R224H)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
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
Select item 324969	NM_018714.3(COG1):c.1282-3T>C	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 1033905	NM_018714.3(COG1):c.1343C>T (p.Ala448Val)	COG1 (A448V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1029715	NM_018714.3(COG1):c.1367C>G (p.Thr456Ser)	COG1 (T456S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1033906	NM_018714.3(COG1):c.1982T>G (p.Ile661Ser)	COG1 (I661S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic