ClinVar for Gene (Select 57511) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364152	NM_020751.3(COG6):c.1705A>G (p.Asn569Asp)	COG6 (N569D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362358	NM_020751.3(COG6):c.1907A>G (p.Asn636Ser)	COG6 (N636S)	Single nucleotide variant (missense variant +2 more)	COG6-congenital disorder of glycosylation	GLikely pathogenic
Select item 3356269	NM_020751.3(COG6):c.1167-23C>T	COG6	Single nucleotide variant (intron variant)	COG6-related disorder	GLikely benign
Select item 3344756	NM_020751.3(COG6):c.906_907delinsA (p.His302fs)	COG6 (H302fs)	Indel (frameshift variant +1 more)	COG6-related disorder	GLikely pathogenic
Select item 3341068	NM_020751.3(COG6):c.691C>T (p.Gln231Ter)	COG6 (Q231*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 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 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 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 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 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 3244229	NC_000013.10:g.(?_36878502)_(40325230_?)dup	ALG5, CCNA1 +16 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 3065602	NM_020751.3(COG6):c.1826+2T>C	COG6	Single nucleotide variant (splice donor variant)	COG6-congenital disorder of glycosylation	GLikely pathogenic
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3059516	NM_020751.3(COG6):c.1693-8_1693-7del	COG6	Deletion (intron variant)	COG6-related disorder	GBenign
Select item 3055110	NM_020751.3(COG6):c.1764T>C (p.Tyr588=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-related disorder	GLikely benign
Select item 3044294	NM_020751.3(COG6):c.366A>G (p.Leu122=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-related disorder	GLikely benign
Select item 3043513	NM_020751.3(COG6):c.1167-10T>C	COG6	Single nucleotide variant (intron variant)	COG6-related disorder	GLikely benign
Select item 3036557	NM_020751.3(COG6):c.1692+3A>G	COG6	Single nucleotide variant (intron variant)	COG6-related disorder	GLikely benign
Select item 3036174	NM_020751.3(COG6):c.297+4T>C	COG6	Single nucleotide variant (intron variant)	COG6-related disorder	GLikely benign
Select item 3034890	NM_001145079.2(COG6):c.1839C>T (p.Asn613=)	COG6	Single nucleotide variant (synonymous variant)	COG6-related disorder	GLikely benign
Select item 3033071	NM_020751.3(COG6):c.1836C>T (p.Ile612=)	COG6	Single nucleotide variant (synonymous variant +2 more)	COG6-related disorder	GLikely benign
Select item 3031640	NM_020751.3(COG6):c.852G>A (p.Ala284=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-related disorder	GLikely benign
Select item 3031566	NM_020751.3(COG6):c.298-8C>A	COG6	Single nucleotide variant (intron variant)	COG6-related disorder	GLikely benign
Select item 3030954	NM_020751.3(COG6):c.*3A>G	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-related disorder	GLikely benign
Select item 3030364	NM_020751.3(COG6):c.1416+4T>A	COG6	Single nucleotide variant (intron variant)	COG6-related disorder	GLikely benign
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2953805	NM_020751.3(COG6):c.1692+12G>C	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2953081	NM_020751.3(COG6):c.370-18A>T	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2951137	NM_020751.3(COG6):c.788+5G>A	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2949143	NM_020751.3(COG6):c.1587C>T (p.Ile529=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2948893	NM_020751.3(COG6):c.1692+9A>G	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2942567	NM_020751.3(COG6):c.1602C>T (p.Asp534=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 2939505	NM_020751.3(COG6):c.1786T>C (p.Leu596=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 2937066	NM_020751.3(COG6):c.1692+14T>C	COG6	Single nucleotide variant (intron variant)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 2932526	NM_020751.3(COG6):c.870C>T (p.Pro290=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 2927031	NM_020751.3(COG6):c.766C>A (p.Gln256Lys)	COG6 (Q256K)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 2643776	NM_020751.3(COG6):c.1515A>G (p.Leu505=)	COG6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2633023	NM_020751.3(COG6):c.1060del (p.Cys354fs)	COG6 (C354fs)	Deletion (frameshift variant +1 more)	COG6-related disorder	GLikely pathogenic
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 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 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 2605157	NM_020751.3(COG6):c.1955T>C (p.Val652Ala)	COG6 (V652A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2577633	NM_020751.3(COG6):c.1746+5G>A	COG6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576959	NM_020751.3(COG6):c.1884T>G (p.Tyr628Ter)	COG6 (Y628*)	Single nucleotide variant (nonsense +2 more)	COG6-congenital disorder of glycosylation	GPathogenic
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 2498081	NM_020751.3(COG6):c.153+392A>G	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation	GPathogenic
Select item 2498080	NM_020751.3(COG6):c.1672C>T (p.Gln558Ter)	COG6 (Q558*)	Single nucleotide variant (nonsense +1 more)	COG6-congenital disorder of glycosylation	GPathogenic
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 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 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 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 2439180	NM_020751.3(COG6):c.789-1G>T	COG6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 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 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 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 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 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 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 2308261	NM_020751.3(COG6):c.1693-11_1693-6del	COG6	Deletion (intron variant)	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 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 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 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 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 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 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 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 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 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 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 2173540	NM_020751.3(COG6):c.1542A>G (p.Leu514=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 2160109	NM_020751.3(COG6):c.694+7G>T	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2159631	NM_020751.3(COG6):c.203G>A (p.Ser68Asn)	COG6 (S68N)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 2136197	NM_020751.3(COG6):c.298-1G>A	COG6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2103688	NM_020751.3(COG6):c.1140C>G (p.Leu380=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
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 2057413	NM_020751.3(COG6):c.1286T>C (p.Val429Ala)	COG6 (V429A)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +2 more	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 2040753	NM_020751.3(COG6):c.172A>G (p.Lys58Glu)	COG6 (K58E)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 2037892	NM_020751.3(COG6):c.871G>A (p.Gly291Arg)	COG6 (G291R)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2024219	NM_020751.3(COG6):c.24G>A (p.Val8=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1982370	NM_020751.3(COG6):c.1941_1944del (p.Ser648fs)	COG6 (S648fs)	Deletion (frameshift variant +2 more)	COG6-congenital disorder of glycosylation +1 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 1951953	NM_020751.3(COG6):c.723A>G (p.Ser241=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1939031	NM_020751.3(COG6):c.993G>A (p.Lys331=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1917509	NM_020751.3(COG6):c.1362A>G (p.Ala454=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign

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