C3553230[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1011213	NM_020751.3(COG6):c.9G>C (p.Glu3Asp)	COG6 (E3D)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +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 1473924	NM_020751.3(COG6):c.26T>A (p.Val9Asp)	COG6 (V9D)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 193436	NM_020751.3(COG6):c.28G>A (p.Ala10Thr)	COG6 (A10T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
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 473145	NM_020751.3(COG6):c.65A>G (p.Asn22Ser)	COG6 (N22S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 312130	NM_020751.3(COG6):c.69G>A (p.Gly23=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 1386476	NM_020751.3(COG6):c.70G>T (p.Ala24Ser)	COG6 (A24S)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	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 764167	NM_020751.3(COG6):c.84G>C (p.Ser28=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 193437	NM_020751.3(COG6):c.94T>A (p.Cys32Ser)	COG6 (C32S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
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 540363	NM_020751.3(COG6):c.123G>A (p.Lys41=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1077340	NM_020751.3(COG6):c.126C>T (p.Ile42=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 640657	NM_020751.3(COG6):c.134C>T (p.Thr45Met)	COG6 (T45M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 508525	NM_020751.3(COG6):c.153+11C>A	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +2 more	GLikely benign
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 1597404	NM_020751.3(COG6):c.154-12C>T	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 840902	NM_020751.3(COG6):c.155A>G (p.Glu52Gly)	COG6 (E52G)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 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 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 1454276	NM_020751.3(COG6):c.252del (p.Ala85fs)	COG6 (A85fs)	Deletion (frameshift variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GPathogenic
Select item 707773	NM_020751.3(COG6):c.261T>C (p.Asn87=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 1030728	NM_020751.3(COG6):c.299A>T (p.Glu100Val)	COG6 (E100V)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 753502	NM_020751.3(COG6):c.303T>C (p.Leu101=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 312133	NM_020751.3(COG6):c.320A>T (p.Asp107Val)	COG6 (D107V)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 746023	NM_020751.3(COG6):c.336C>T (p.Ser112=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 697992	NM_020751.3(COG6):c.358A>G (p.Ser120Gly)	COG6 (S120G)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
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 386022	NM_020751.3(COG6):c.370-18A>G	COG6	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 493007	NM_020751.3(COG6):c.511C>T (p.Arg171Ter)	COG6 (R171*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1441742	NM_020751.3(COG6):c.535A>G (p.Thr179Ala)	COG6 (T179A)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1005886	NM_020751.3(COG6):c.556C>A (p.Leu186Met)	COG6 (L186M)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 198581	NM_020751.3(COG6):c.624-3dup	COG6	Duplication (intron variant)	not specified +4 more	GBenign/Likely benign
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 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 1016145	NM_020751.3(COG6):c.695G>A (p.Ser232Asn)	COG6 (S232N)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 452649	NM_020751.3(COG6):c.697G>A (p.Glu233Lys)	COG6 (E233K)	Single nucleotide variant (missense variant +1 more)	not provided +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 312137	NM_020751.3(COG6):c.729C>T (p.Asp243=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 574735	NM_020751.3(COG6):c.730G>A (p.Val244Ile)	COG6 (V244I)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +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 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 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 1086916	NM_020751.3(COG6):c.788+10T>A	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 857329	NM_020751.3(COG6):c.851C>T (p.Ala284Val)	COG6 (A284V)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 387057	NM_020751.3(COG6):c.855C>T (p.Leu285=)	COG6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 858496	NM_020751.3(COG6):c.868C>T (p.Pro290Ser)	COG6 (P290S)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance
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 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 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 1005873	NM_020751.3(COG6):c.920A>G (p.Tyr307Cys)	COG6 (Y307C)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 1598982	NM_020751.3(COG6):c.939T>C (p.Ala313=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GBenign
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 1110850	NM_020751.3(COG6):c.981A>G (p.Glu327=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 1476880	NM_020751.3(COG6):c.989T>C (p.Leu330Ser)	COG6 (L330S)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
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 1358147	NM_020751.3(COG6):c.1009+6T>C	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 312139	NM_020751.3(COG6):c.1009+9A>G	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +3 more	GBenign
Select item 1645916	NM_020751.3(COG6):c.1009+15T>C	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1363079	NM_020751.3(COG6):c.1021A>T (p.Asn341Tyr)	COG6 (N341Y)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1039694	NM_020751.3(COG6):c.1036G>A (p.Val346Ile)	COG6 (V346I)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1378821	NM_020751.3(COG6):c.1043A>G (p.His348Arg)	COG6 (H348R)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 797905	NM_020751.3(COG6):c.1071A>G (p.Leu357=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 95990	NM_020751.3(COG6):c.1074+18T>C	COG6	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 312141	NM_020751.3(COG6):c.1075-12A>C	COG6	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 741236	NM_020751.3(COG6):c.1140C>T (p.Leu380=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1419535	NM_020751.3(COG6):c.1145A>G (p.Lys382Arg)	COG6 (K382R)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
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 235506	NM_020751.3(COG6):c.1180A>G (p.Asn394Asp)	COG6 (N394D)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 387740	NM_020751.3(COG6):c.1233A>G (p.Lys411=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GLikely benign
Select item 1157643	NM_020751.3(COG6):c.1242C>T (p.Phe414=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
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 881931	NM_020751.3(COG6):c.1263T>C (p.His421=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
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 516792	NM_020751.3(COG6):c.1308T>G (p.Leu436=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +2 more	GBenign/Likely benign
Select item 312143	NM_020751.3(COG6):c.1340T>C (p.Met447Thr)	COG6 (M447T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1086268	NM_020751.3(COG6):c.1357T>C (p.Leu453=)	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
Select item 764233	NM_020751.3(COG6):c.1368C>T (p.His456=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
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 1382419	NM_020751.3(COG6):c.1484C>G (p.Ala495Gly)	COG6 (A495G)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 706019	NM_020751.3(COG6):c.1533A>T (p.Thr511=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
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 1542221	NM_020751.3(COG6):c.1558A>C (p.Arg520=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 1346002	NM_020751.3(COG6):c.1585-2A>G	COG6	Single nucleotide variant (splice acceptor variant)	COG6-congenital disorder of glycosylation +1 more	GLikely pathogenic
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 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 774547	NM_020751.3(COG6):c.1645G>T (p.Gly549Cys)	COG6 (G549C)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
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 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 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 1616667	NM_020751.3(COG6):c.1692+19C>T	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 194778	NM_020751.3(COG6):c.1693-12T>C	COG6	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 540362	NM_020751.3(COG6):c.1693-8_1693-6del	COG6	Deletion (intron variant)	COG6-congenital disorder of glycosylation +1 more	GBenign
Select item 703006	NM_020751.3(COG6):c.1693-7T>A	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 312147	NM_020751.3(COG6):c.1693-7_1693-6del	COG6	Deletion (intron variant)	Congenital disorder of glycosylation +3 more	GBenign/Likely benign

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