ClinVar for MedGen (Select 766144) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065602	NM_020751.3(COG6):c.1826+2T>C	COG6	Single nucleotide variant (splice donor variant)	COG6-ongenital disorder of glycosylation	GLikely pathogenic
Select item 2953805	NM_020751.3(COG6):c.1692+12G>C	COG6	Single nucleotide variant (intron variant)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 2953081	NM_020751.3(COG6):c.370-18A>T	COG6	Single nucleotide variant (intron variant)	COG6-ongenital 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-ongenital 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)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 2948893	NM_020751.3(COG6):c.1692+9A>G	COG6	Single nucleotide variant (intron variant)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +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)	COG6-ongenital 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 2932526	NM_020751.3(COG6):c.870C>T (p.Pro290=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-ongenital disorder of glycosylation +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 2610813	NM_020751.3(COG6):c.1105C>T (p.Pro369Ser)	COG6 (P369S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2576959	NM_020751.3(COG6):c.1884T>G (p.Tyr628Ter)	COG6 (Y628*)	Single nucleotide variant (nonsense +2 more)	COG6-ongenital disorder of glycosylation	GPathogenic
Select item 2498081	NM_020751.3(COG6):c.153+392A>G	COG6	Single nucleotide variant (intron variant)	COG6-ongenital 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-ongenital disorder of glycosylation	GPathogenic
Select item 2203823	NM_020751.3(COG6):c.651_654del (p.Leu217fs)	COG6 (L217fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +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-ongenital disorder of glycosylation +2 more	GLikely benign
Select item 2159631	NM_020751.3(COG6):c.203G>A (p.Ser68Asn)	COG6 (S68N)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation +1 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 2085701	NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys)	COG6 (Y628C)	Single nucleotide variant (missense variant +2 more)	COG6-ongenital disorder of glycosylation +1 more	GUncertain significance
Select item 2057413	NM_020751.3(COG6):c.1286T>C (p.Val429Ala)	COG6 (V429A)	Single nucleotide variant (missense variant +1 more)	not provided +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)	COG6-ongenital disorder of glycosylation +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-ongenital 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)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 1982370	NM_020751.3(COG6):c.1941_1944del (p.Ser648fs)	COG6 (S648fs)	Deletion (non-coding transcript variant +2 more)	COG6-ongenital 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-ongenital 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-ongenital 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-ongenital disorder of glycosylation +1 more	GLikely benign
Select item 1805531	NM_020751.3(COG6):c.623+1G>T	COG6	Single nucleotide variant (splice donor variant)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 1645916	NM_020751.3(COG6):c.1009+15T>C	COG6	Single nucleotide variant (intron variant)	COG6-ongenital disorder of glycosylation +1 more	GLikely benign
Select item 1616667	NM_020751.3(COG6):c.1692+19C>T	COG6	Single nucleotide variant (intron variant)	COG6-ongenital disorder of glycosylation +1 more	GLikely benign
Select item 1598982	NM_020751.3(COG6):c.939T>C (p.Ala313=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GBenign
Select item 1597404	NM_020751.3(COG6):c.154-12C>T	COG6	Single nucleotide variant (intron variant)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 1586278	NM_020751.3(COG6):c.1747-19A>G	COG6	Single nucleotide variant (intron variant)	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)	COG6-ongenital disorder of glycosylation +1 more	GLikely benign
Select item 1509139	NM_020751.3(COG6):c.53A>G (p.Asn18Ser)	COG6 (N18S)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 1476880	NM_020751.3(COG6):c.989T>C (p.Leu330Ser)	COG6 (L330S)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation +1 more	GUncertain significance
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 1454276	NM_020751.3(COG6):c.252del (p.Ala85fs)	COG6 (A85fs)	Deletion (frameshift variant +1 more)	COG6-ongenital disorder of glycosylation +1 more	GPathogenic
Select item 1441742	NM_020751.3(COG6):c.535A>G (p.Thr179Ala)	COG6 (T179A)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 1440871	NM_020751.3(COG6):c.1826+3A>C	COG6	Single nucleotide variant (intron variant)	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 +2 more	GUncertain significance
Select item 1419535	NM_020751.3(COG6):c.1145A>G (p.Lys382Arg)	COG6 (K382R)	Single nucleotide variant (missense variant +1 more)	COG6-related condition +2 more	GLikely benign
Select item 1386476	NM_020751.3(COG6):c.70G>T (p.Ala24Ser)	COG6 (A24S)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation +1 more	GUncertain significance
Select item 1382419	NM_020751.3(COG6):c.1484C>G (p.Ala495Gly)	COG6 (A495G)	Single nucleotide variant (non-coding transcript variant +1 more)	COG6-ongenital 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 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 1363079	NM_020751.3(COG6):c.1021A>T (p.Asn341Tyr)	COG6 (N341Y)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation +1 more	GUncertain significance
Select item 1358147	NM_020751.3(COG6):c.1009+6T>C	COG6	Single nucleotide variant (intron variant)	COG6-ongenital disorder of glycosylation +1 more	GUncertain significance
Select item 1346002	NM_020751.3(COG6):c.1585-2A>G	COG6	Single nucleotide variant (splice acceptor variant)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely pathogenic
Select item 1217324	NM_020751.3(COG6):c.297+47C>T	COG6	Single nucleotide variant (intron variant)	COG6-ongenital disorder of glycosylation +2 more	GBenign
Select item 1157643	NM_020751.3(COG6):c.1242C>T (p.Phe414=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
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 1086916	NM_020751.3(COG6):c.788+10T>A	COG6	Single nucleotide variant (intron variant)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 1086268	NM_020751.3(COG6):c.1357T>C (p.Leu453=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-ongenital 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-ongenital disorder of glycosylation +1 more	GLikely benign
Select item 1062846	NM_020751.3(COG6):c.1892dup (p.Met632fs)	COG6 (M632fs)	Duplication (frameshift variant +2 more)	COG6-ongenital disorder of glycosylation +1 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-ongenital disorder of glycosylation +1 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 1032097	NM_020751.3(COG6):c.783A>T (p.Leu261Phe)	COG6 (L261F)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 1030728	NM_020751.3(COG6):c.299A>T (p.Glu100Val)	COG6 (E100V)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation +2 more	GUncertain significance
Select item 1028179	NM_020751.3(COG6):c.95G>T (p.Cys32Phe)	COG6 (C32F)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 1028178	NM_020751.3(COG6):c.784T>C (p.Tyr262His)	COG6 (Y262H)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
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 1011213	NM_020751.3(COG6):c.9G>C (p.Glu3Asp)	COG6 (E3D)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital 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-ongenital disorder of glycosylation +1 more	GUncertain significance
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 998829	NM_020751.3(COG6):c.1738G>A (p.Ala580Thr)	COG6 (A580T)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 883887	NM_020751.3(COG6):c.*40A>G	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 883886	NM_020751.3(COG6):c.1891G>A (p.Val631Met)	COG6 (V631M)	Single nucleotide variant (missense variant +2 more)	COG6-ongenital disorder of glycosylation +2 more	GUncertain significance
Select item 883885	NM_020751.3(COG6):c.1810C>T (p.Leu604=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 883816	NM_020751.3(COG6):c.602G>T (p.Arg201Leu)	COG6 (R201L)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 883815	NM_020751.3(COG6):c.369+4T>C	COG6	Single nucleotide variant (intron variant)	COG6-ongenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 883174	NM_020751.3(COG6):c.*1508G>T	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 883173	NM_020751.3(COG6):c.*1248T>A	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 883172	NM_020751.3(COG6):c.*1241A>G	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 883171	NM_020751.3(COG6):c.*1181T>C	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 883109	NM_020751.3(COG6):c.1397G>A (p.Arg466His)	COG6 (R466H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 883032	NM_020751.3(COG6):c.86C>T (p.Ala29Val)	COG6 (A29V)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 883031	NM_020751.3(COG6):c.-44C>G	COG6	Single nucleotide variant (5 prime UTR variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 882010	NM_020751.3(COG6):c.*1093G>T	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GBenign
Select item 882009	NM_020751.3(COG6):c.*1001C>G	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 882008	NM_020751.3(COG6):c.*987A>G	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 882007	NM_020751.3(COG6):c.*889T>C	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 882006	NM_020751.3(COG6):c.*889T>A	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GLikely benign
Select item 882005	NM_020751.3(COG6):c.*720A>G	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 881931	NM_020751.3(COG6):c.1263T>C (p.His421=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-ongenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 881930	NM_020751.3(COG6):c.1236A>G (p.Lys412=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 881929	NM_020751.3(COG6):c.1135A>C (p.Asn379His)	COG6 (N379H)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 881865	NM_020751.3(COG6):c.-50G>A	COG6	Single nucleotide variant (5 prime UTR variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 881488	NM_020751.3(COG6):c.958G>A (p.Ala320Thr)	COG6 (A320T)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 881487	NM_020751.3(COG6):c.917+4T>C	COG6	Single nucleotide variant (intron variant)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 881486	NM_020751.3(COG6):c.835C>T (p.Arg279Cys)	COG6 (R279C)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 881485	NM_020751.3(COG6):c.797T>C (p.Leu266Ser)	COG6 (L266S)	Single nucleotide variant (missense variant +1 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 880594	NM_020751.3(COG6):c.*555G>A	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 880593	NM_020751.3(COG6):c.*352T>G	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GUncertain significance
Select item 880592	NM_020751.3(COG6):c.*149G>T	COG6	Single nucleotide variant (3 prime UTR variant +2 more)	COG6-ongenital disorder of glycosylation	GUncertain significance

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