Related gene-specific medical variations for Gene (Select 126862634) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147067	NM_018714.3(COG1):c.1148G>A (p.Arg383Gln)	COG1, LOC126862634 (R383Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3018698	NM_018714.3(COG1):c.914-8C>G	COG1, LOC126862634	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 3002816	NM_018714.3(COG1):c.1137C>T (p.Leu379=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2913781	NM_018714.3(COG1):c.987C>T (p.Val329=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2824315	NM_018714.3(COG1):c.1206A>G (p.Leu402=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2805911	NM_018714.3(COG1):c.1091del (p.Asn364fs)	COG1, LOC126862634 (N364fs)	Deletion (frameshift variant)	COG1 congenital disorder of glycosylation	GPathogenic
Select item 2795862	NM_018714.3(COG1):c.1149G>A (p.Arg383=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2648174	NM_018714.3(COG1):c.1221G>C (p.Leu407=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2481173	NM_018714.3(COG1):c.1102A>G (p.Asn368Asp)	COG1, LOC126862634 (N368D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461696	NM_018714.3(COG1):c.967C>T (p.His323Tyr)	COG1, LOC126862634 (H323Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2315328	NM_018714.3(COG1):c.1246G>T (p.Asp416Tyr)	COG1, LOC126862634 (D416Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195938	NM_018714.3(COG1):c.1006C>T (p.Arg336Ter)	COG1, LOC126862634 (R336*)	Single nucleotide variant (nonsense)	COG1 congenital disorder of glycosylation	GPathogenic
Select item 2185637	NM_018714.3(COG1):c.1140G>A (p.Ala380=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2083504	NM_018714.3(COG1):c.1139C>T (p.Ala380Val)	COG1, LOC126862634 (A380V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2059168	NM_018714.3(COG1):c.1183A>C (p.Thr395Pro)	COG1, LOC126862634 (T395P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2008992	NM_018714.3(COG1):c.1207T>C (p.Cys403Arg)	COG1, LOC126862634 (C403R)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1950708	NM_018714.3(COG1):c.1221G>A (p.Leu407=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1658863	NM_018714.3(COG1):c.930C>T (p.Val310=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1602429	NM_018714.3(COG1):c.984C>T (p.Ile328=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1591326	NM_018714.3(COG1):c.914-8C>A	COG1, LOC126862634	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1581930	NM_018714.3(COG1):c.1017A>T (p.Ala339=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1498397	NM_018714.3(COG1):c.914G>A (p.Gly305Glu)	COG1, LOC126862634 (G305E)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1487352	NM_018714.3(COG1):c.1108C>T (p.Leu370Phe)	COG1, LOC126862634 (L370F)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1480682	NM_018714.3(COG1):c.1130del (p.Lys377fs)	COG1, LOC126862634 (K377fs)	Deletion (frameshift variant)	COG1 congenital disorder of glycosylation	GPathogenic
Select item 1474229	NM_018714.3(COG1):c.1071-15A>G	COG1, LOC126862634	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1419016	NM_018714.3(COG1):c.980C>T (p.Ser327Phe)	COG1, LOC126862634 (S327F)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1411603	NM_018714.3(COG1):c.1153G>A (p.Ala385Thr)	COG1, LOC126862634 (A385T)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1400477	NM_018714.3(COG1):c.1070+3A>G	COG1, LOC126862634	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1294339	NM_018714.3(COG1):c.1071-141G>A	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273933	NM_018714.3(COG1):c.1070+199A>G	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257182	NM_018714.3(COG1):c.1281+162C>T	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249591	NM_018714.3(COG1):c.1281+80G>A	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240638	NM_018714.3(COG1):c.1070+137C>T	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180367	NM_018714.3(COG1):c.914-55C>T	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1156058	NM_018714.3(COG1):c.1070+9C>A	COG1, LOC126862634	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1151374	NM_018714.3(COG1):c.1116C>T (p.Tyr372=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1115514	NM_018714.3(COG1):c.1236G>A (p.Leu412=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1112854	NM_018714.3(COG1):c.1152C>T (p.Asp384=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
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 1013801	NM_018714.3(COG1):c.985G>A (p.Val329Ile)	COG1, LOC126862634 (V329I)	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 889656	NM_018714.3(COG1):c.1132G>C (p.Gly378Arg)	COG1, LOC126862634 (G378R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 841921	NM_018714.3(COG1):c.1071G>T (p.Met357Ile)	COG1, LOC126862634 (M357I)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 725423	NM_018714.3(COG1):c.1035A>G (p.Glu345=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 662087	NM_018714.3(COG1):c.988G>A (p.Glu330Lys)	COG1, LOC126862634 (E330K)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 324968	NM_018714.3(COG1):c.1230G>A (p.Pro410=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 324967	NM_018714.3(COG1):c.1157T>C (p.Met386Thr)	COG1, LOC126862634 (M386T)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 324966	NM_018714.3(COG1):c.1011C>G (p.Thr337=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 324965	NM_018714.3(COG1):c.967C>A (p.His323Asn)	COG1, LOC126862634 (H323N)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 218759	NM_018714.3(COG1):c.1117G>A (p.Val373Met)	COG1, LOC126862634 (V373M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 95911	NM_018714.3(COG1):c.1175A>G (p.Asn392Ser)	COG1, LOC126862634 (N392S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 95910	NM_018714.3(COG1):c.1049C>T (p.Thr350Met)	COG1, LOC126862634 (T350M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 3655	NM_018714.3(COG1):c.1070+5G>A	COG1, LOC126862634	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GPathogenic

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Links from Gene

Items: 53