"Ambry Genetics"[submitter] AND "COG6"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147128	NM_020751.3(COG6):c.7G>C (p.Glu3Gln)	COG6 (E3Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268488	NM_020751.3(COG6):c.16G>A (p.Gly6Arg)	COG6 (G6R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405778	NM_020751.3(COG6):c.32T>A (p.Val11Glu)	COG6 (V11E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405779	NM_020751.3(COG6):c.34T>A (p.Ser12Thr)	COG6 (S12T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268486	NM_020751.3(COG6):c.35C>G (p.Ser12Cys)	COG6 (S12C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 312129	NM_020751.3(COG6):c.37G>A (p.Ala13Thr)	COG6 (A13T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2327426	NM_020751.3(COG6):c.43G>A (p.Gly15Arg)	COG6 (G15R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1509139	NM_020751.3(COG6):c.53A>G (p.Asn18Ser)	COG6 (N18S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3147129	NM_020751.3(COG6):c.80C>T (p.Thr27Ile)	COG6 (T27I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1424207	NM_020751.3(COG6):c.80C>G (p.Thr27Ser)	COG6 (T27S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1035048	NM_020751.3(COG6):c.119A>G (p.His40Arg)	COG6 (H40R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2228414	NM_020751.3(COG6):c.209G>A (p.Arg70Gln)	COG6 (R70Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147122	NM_020751.3(COG6):c.236T>C (p.Ile79Thr)	COG6 (I79T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147123	NM_020751.3(COG6):c.245A>G (p.Lys82Arg)	COG6 (K82R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3147124	NM_020751.3(COG6):c.308G>A (p.Ser103Asn)	COG6 (S103N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411726	NM_020751.3(COG6):c.338A>G (p.Asn113Ser)	COG6 (N113S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 312134	NM_020751.3(COG6):c.362G>A (p.Arg121His)	COG6 (R121H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3268485	NM_020751.3(COG6):c.377A>G (p.Lys126Arg)	COG6 (K126R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469067	NM_020751.3(COG6):c.422C>A (p.Ser141Tyr)	COG6 (S141Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468603	NM_020751.3(COG6):c.443T>C (p.Ile148Thr)	COG6 (I148T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241802	NM_020751.3(COG6):c.512G>A (p.Arg171Gln)	COG6 (R171Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 312135	NM_020751.3(COG6):c.607A>C (p.Asn203His)	COG6 (N203H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2229208	NM_020751.3(COG6):c.615A>C (p.Gln205His)	COG6 (Q205H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203823	NM_020751.3(COG6):c.651_654del (p.Leu217fs)	COG6 (L217fs)	Deletion (frameshift variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GPathogenic
Select item 2266083	NM_020751.3(COG6):c.724T>C (p.Cys242Arg)	COG6 (C242R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2051180	NM_020751.3(COG6):c.739G>A (p.Val247Ile)	COG6 (V247I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3147126	NM_020751.3(COG6):c.754A>G (p.Met252Val)	COG6 (M252V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147127	NM_020751.3(COG6):c.793A>T (p.Thr265Ser)	COG6 (T265S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284099	NM_020751.3(COG6):c.835C>A (p.Arg279Ser)	COG6 (R279S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147130	NM_020751.3(COG6):c.942G>C (p.Trp314Cys)	COG6 (W314C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1373664	NM_020751.3(COG6):c.956C>T (p.Thr319Ile)	COG6 (T319I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3268484	NM_020751.3(COG6):c.1001C>T (p.Thr334Ile)	COG6 (T334I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610813	NM_020751.3(COG6):c.1105C>T (p.Pro369Ser)	COG6 (P369S)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2547511	NM_020751.3(COG6):c.1111G>A (p.Ala371Thr)	COG6 (A371T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323483	NM_020751.3(COG6):c.1114G>A (p.Val372Ile)	COG6 (V372I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 312142	NM_020751.3(COG6):c.1149T>G (p.Phe383Leu)	COG6 (F383L)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2219419	NM_020751.3(COG6):c.1166+1G>A	COG6	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 3147118	NM_020751.3(COG6):c.1219C>T (p.His407Tyr)	COG6 (H407Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619869	NM_020751.3(COG6):c.1228A>C (p.Ser410Arg)	COG6 (S410R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 838662	NM_020751.3(COG6):c.1247A>G (p.Asn416Ser)	COG6 (N416S)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +2 more	GUncertain significance
Select item 2490453	NM_020751.3(COG6):c.1391A>G (p.Asp464Gly)	COG6 (D464G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226184	NM_020751.3(COG6):c.1396C>T (p.Arg466Cys)	COG6 (R466C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 883109	NM_020751.3(COG6):c.1397G>A (p.Arg466His)	COG6 (R466H)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 836416	NM_020751.3(COG6):c.1415A>G (p.Gln472Arg)	COG6 (Q472R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1980180	NM_020751.3(COG6):c.1426T>C (p.Cys476Arg)	COG6 (C476R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3268483	NM_020751.3(COG6):c.1435G>C (p.Asp479His)	COG6 (D479H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 312144	NM_020751.3(COG6):c.1459G>A (p.Val487Ile)	COG6 (V487I)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2484819	NM_020751.3(COG6):c.1522A>G (p.Met508Val)	COG6 (M508V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204636	NM_020751.3(COG6):c.1661A>G (p.Tyr554Cys)	COG6 (Y554C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147121	NM_020751.3(COG6):c.1675C>G (p.Gln559Glu)	COG6 (Q559E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308261	NM_020751.3(COG6):c.1693-11_1693-6del	COG6	Deletion (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2492945	NM_020751.3(COG6):c.1694G>A (p.Gly565Asp)	COG6 (G565D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207607	NM_020751.3(COG6):c.1742C>T (p.Ala581Val)	COG6 (A581V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607690	NM_020751.3(COG6):c.1754T>A (p.Phe585Tyr)	COG6 (F585Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 312148	NM_020751.3(COG6):c.1759C>T (p.Arg587Cys)	COG6 (R587C)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 540361	NM_020751.3(COG6):c.1760G>A (p.Arg587His)	COG6 (R587H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2356633	NM_020751.3(COG6):c.1783C>G (p.Leu595Val)	COG6 (L595V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316727	NM_020751.3(COG6):c.1865G>A (p.Arg622Lys)	COG6 (R622K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2085701	NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys)	COG6 (Y628C)	Single nucleotide variant (missense variant +2 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +2 more	GUncertain significance
Select item 883886	NM_020751.3(COG6):c.1891G>A (p.Val631Met)	COG6 (V631M)	Single nucleotide variant (missense variant +2 more)	COG6-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2264762	NM_020751.3(COG6):c.1903A>T (p.Ile635Phe)	COG6 (I635F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1693457	NM_020751.3(COG6):c.1904T>C (p.Ile635Thr)	COG6 (I635T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3268482	NM_020751.3(COG6):c.1921C>A (p.Pro641Thr)	COG6 (P641T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1304162	NM_020751.3(COG6):c.1946C>T (p.Pro649Leu)	COG6 (P649L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2605157	NM_020751.3(COG6):c.1955T>C (p.Val652Ala)	COG6 (V652A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 65