Related gene-specific medical variations for Gene (Select 9382) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147076	NM_018714.3(COG1):c.50A>C (p.Asp17Ala)	COG1, LOC130061576 (D17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147075	NM_018714.3(COG1):c.43C>A (p.Leu15Met)	COG1, LOC130061576 (L15M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147074	NM_018714.3(COG1):c.2864G>A (p.Arg955Lys)	COG1, VCF1 (R955K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147073	NM_018714.3(COG1):c.25G>A (p.Ala9Thr)	COG1, LOC130061576 (A9T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3024024	NM_018714.3(COG1):c.2862C>T (p.Phe954=)	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GLikely benign
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 3015603	NM_018714.3(COG1):c.2928T>C (p.Ser976=)	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	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 2985761	NM_018714.3(COG1):c.204G>A (p.Gln68=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2913832	NM_018714.3(COG1):c.2817G>A (p.Pro939=)	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	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 2809614	NM_018714.3(COG1):c.2825C>T (p.Ser942Phe)	COG1, VCF1 (S942F)	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
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 2729617	NM_018714.3(COG1):c.315+18C>T	COG1, LOC130061577	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2728574	NM_018714.3(COG1):c.2225C>A (p.Ser742Tyr)	COG1, LOC125316790 (S742Y)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2700410	NM_018714.3(COG1):c.117C>T (p.Ala39=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2648177	NM_001098832.2(VCF1):c.*1825G>A	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 2558187	NM_018714.3(COG1):c.190G>A (p.Asp64Asn)	COG1, LOC130061576 (D64N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550093	NM_018714.3(COG1):c.4G>A (p.Ala2Thr)	COG1, LOC130061576 (A2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2440183	NM_018714.3(COG1):c.1711C>T (p.Arg571Trp)	COG1 (R571W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2440182	NM_018714.3(COG1):c.559C>T (p.Arg187Trp)	COG1 (R187W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2413209	NM_018714.3(COG1):c.308C>T (p.Ala103Val)	COG1, LOC130061577 (A103V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	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 2257317	NM_018714.3(COG1):c.2836G>C (p.Asp946His)	COG1, VCF1 (D946H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247535	NM_018714.3(COG1):c.11C>G (p.Ala4Gly)	COG1, LOC130061576 (A4G)	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 2191469	NM_018714.3(COG1):c.163C>T (p.Arg55Trp)	COG1, LOC130061576 (R55W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
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 2144907	NM_018714.3(COG1):c.180C>G (p.Ile60Met)	COG1, LOC130061576 (I60M)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2122608	NM_018714.3(COG1):c.272G>T (p.Arg91Leu)	COG1, LOC130061577 (R91L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
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 2011076	NM_018714.3(COG1):c.315+9C>G	COG1, LOC130061577	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
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 1993367	NM_018714.3(COG1):c.148C>T (p.Gln50Ter)	COG1, LOC130061576 (Q50*)	Single nucleotide variant (nonsense)	COG1 congenital disorder of glycosylation	GPathogenic
Select item 1957930	NM_018714.3(COG1):c.125A>C (p.Glu42Ala)	COG1, LOC130061576 (E42A)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	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 1948735	NM_001098832.2(VCF1):c.1231_1235del	COG1, VCF1	Deletion (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1938936	NM_018714.3(COG1):c.2872G>A (p.Val958Ile)	COG1, VCF1 (V958I)	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1937474	NM_018714.3(COG1):c.1A>G (p.Met1Val)	COG1, LOC130061576 (M1V)	Single nucleotide variant (missense variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1932124	NM_018714.3(COG1):c.189C>A (p.Ala63=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1706893	NM_018714.3(COG1):c.2221-209C>T	COG1, LOC125316790	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674462	NM_018714.3(COG1):c.2841G>A (p.Pro947=)	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	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 1642967	NM_018714.3(COG1):c.2892G>A (p.Thr964=)	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1613752	NM_018714.3(COG1):c.126G>A (p.Glu42=)	COG1, LOC130061576	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 1596364	NM_018714.3(COG1):c.9C>T (p.Thr3=)	COG1, LOC130061576	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 1584472	NM_018714.3(COG1):c.2223G>A (p.Pro741=)	COG1, LOC125316790	Single nucleotide variant (synonymous 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 1543759	NM_018714.3(COG1):c.2221-7C>T	COG1, LOC125316790	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1533192	NM_018714.3(COG1):c.2221-14_2221-13del	COG1, LOC125316790	Deletion (intron variant)	COG1 congenital disorder of glycosylation	GBenign
Select item 1519351	NM_018714.3(COG1):c.2272C>T (p.Arg758Trp)	COG1, LOC125316790 (R758W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1507917	NM_018714.3(COG1):c.305G>C (p.Arg102Pro)	COG1, LOC130061577 (R102P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
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 1482824	NM_018714.3(COG1):c.2883A>C (p.Glu961Asp)	COG1, VCF1 (E961D)	Single nucleotide variant (3 prime UTR variant +1 more)	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 1479010	NM_018714.3(COG1):c.2867A>C (p.Gln956Pro)	COG1, VCF1 (Q956P)	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
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 1446478	NM_018714.3(COG1):c.311A>G (p.Gln104Arg)	COG1, LOC130061577 (Q104R)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1431823	NM_018714.3(COG1):c.47G>T (p.Arg16Leu)	COG1, LOC130061576 (R16L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
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 1417436	NM_018714.3(COG1):c.2891C>T (p.Thr964Met)	COG1, VCF1 (T964M)	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1413879	NM_018714.3(COG1):c.164G>C (p.Arg55Pro)	COG1, LOC130061576 (R55P)	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 1408686	NM_018714.3(COG1):c.2233G>A (p.Val745Ile)	COG1, LOC125316790 (V745I)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1404519	NM_018714.3(COG1):c.2262G>C (p.Gln754His)	COG1, LOC125316790 (Q754H)	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 1395330	NM_018714.3(COG1):c.2818G>A (p.Ala940Thr)	COG1, VCF1 (A940T)	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1378235	NM_018714.3(COG1):c.2890A>G (p.Thr964Ala)	COG1, VCF1 (T964A)	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1372435	NM_018714.3(COG1):c.2281G>A (p.Gly761Ser)	COG1, LOC125316790 (G761S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1365539	NM_018714.3(COG1):c.2866C>T (p.Gln956Ter)	COG1, VCF1 (Q956*)	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1361356	NM_018714.3(COG1):c.2840C>T (p.Pro947Leu)	COG1, VCF1 (P947L)	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1355028	NM_018714.3(COG1):c.79G>T (p.Ala27Ser)	COG1, LOC130061576 (A27S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1355015	NM_018714.3(COG1):c.2222C>T (p.Pro741Leu)	COG1, LOC125316790 (P741L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	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 1183906	NM_001098832.2(VCF1):c.*1385G>A	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	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 1092702	NM_018714.3(COG1):c.273C>G (p.Arg91=)	COG1, LOC130061577	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 967871	NM_018714.3(COG1):c.2822G>A (p.Arg941His)	COG1, FAM104A (R941H)	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 892366	NM_018714.3(COG1):c.315+10C>G	COG1, LOC130061577	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 889724	NM_001098832.2(VCF1):c.*1037G>A	COG1, VCF1	Single nucleotide variant (3 prime UTR variant)	COG1 congenital disorder of glycosylation	GUncertain significance

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