SUGCT[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 151

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1998698	NM_001193313.2(SUGCT):c.59G>A (p.Arg20Gln)	SUGCT (R20Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120708	NM_001193313.2(SUGCT):c.67G>T (p.Gly23Trp)	SUGCT (G23W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1539031	NM_001193313.2(SUGCT):c.92C>T (p.Pro31Leu)	SUGCT (P31L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1220785	NM_001193313.2(SUGCT):c.101-134T>C	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222524	NM_001193313.2(SUGCT):c.101-71A>G	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273460	NM_001193313.2(SUGCT):c.101-39C>G	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1470179	NM_001193313.2(SUGCT):c.103A>G (p.Met35Val)	SUGCT (M35V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 810087	NM_001193313.2(SUGCT):c.126A>C (p.Glu42Asp)	SUGCT (E42D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1899490	NM_001193313.2(SUGCT):c.152+8T>C	SUGCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278637	NM_001193313.2(SUGCT):c.152+128G>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281060	NM_001193313.2(SUGCT):c.153-195dup	SUGCT	Duplication (intron variant)	not provided	GBenign
Select item 2104847	NM_001193313.2(SUGCT):c.172G>A (p.Ala58Thr)	SUGCT (A58T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046203	NM_001193313.2(SUGCT):c.192T>A (p.Asp64Glu)	SUGCT (D64E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2490623	NM_001193313.2(SUGCT):c.200C>A (p.Ala67Glu)	SUGCT (A67E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171961	NM_001193313.2(SUGCT):c.223C>G (p.Pro75Ala)	SUGCT (P75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1283528	NM_001193313.2(SUGCT):c.227-182A>G	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278902	NM_001193313.2(SUGCT):c.227-66A>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270855	NM_001193313.2(SUGCT):c.227-61dup	SUGCT	Duplication (intron variant)	not provided	GBenign
Select item 1239377	NM_001193313.2(SUGCT):c.227-39C>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559088	NM_001193313.2(SUGCT):c.227-16A>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2074660	NM_001193313.2(SUGCT):c.245G>C (p.Arg82Pro)	SUGCT (R82P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1447217	NM_001193313.2(SUGCT):c.247A>G (p.Thr83Ala)	SUGCT (T83A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171962	NM_001193313.2(SUGCT):c.254G>A (p.Gly85Glu)	SUGCT (G85E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321297	NM_001193313.2(SUGCT):c.265G>C (p.Val89Leu)	SUGCT (V89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1905226	NM_001193313.2(SUGCT):c.265G>T (p.Val89Phe)	SUGCT (V89F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808315	NM_001193313.2(SUGCT):c.267del (p.Thr91fs)	SUGCT (T91fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2608938	NM_001193313.2(SUGCT):c.287A>T (p.Tyr96Phe)	SUGCT (Y96F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2905662	NM_001193313.2(SUGCT):c.289C>T (p.Leu97Phe)	SUGCT (L97F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1851	NM_001193313.2(SUGCT):c.301C>T (p.Arg101Ter)	SUGCT (R108* +1 more)	Single nucleotide variant (nonsense)	Glutaryl-CoA oxidase deficiency	GConflicting classifications of pathogenicity
Select item 1234749	NM_001193313.2(SUGCT):c.312+56A>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224628	NM_001193313.2(SUGCT):c.313-253A>G	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262005	NM_001193313.2(SUGCT):c.313-245A>G	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280318	NM_001193313.2(SUGCT):c.313-138_313-132dup	SUGCT	Duplication (intron variant)	not provided	GBenign
Select item 1181930	NM_001193313.2(SUGCT):c.313-139_313-132dup	SUGCT	Duplication (intron variant)	not provided	GBenign
Select item 1248943	NM_001193313.2(SUGCT):c.313-71G>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559297	NM_001193313.2(SUGCT):c.313-30AT[9]	SUGCT	Microsatellite (intron variant)	not provided	GBenign
Select item 559089	NM_001193313.2(SUGCT):c.313-30AT[7]	SUGCT	Microsatellite (intron variant)	not provided	GBenign
Select item 1901231	NM_001193313.2(SUGCT):c.313-18A>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 559090	NM_001193313.2(SUGCT):c.313-16A>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3058714	NM_001193313.2(SUGCT):c.313-11_313-10del	SUGCT	Deletion (intron variant)	SUGCT-related disorder	GLikely benign
Select item 1653709	NM_001193313.2(SUGCT):c.313-14T>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1976276	NM_001193313.2(SUGCT):c.313-2A>G	SUGCT	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2581584	NM_001193313.2(SUGCT):c.313-1G>C	SUGCT	Single nucleotide variant (splice acceptor variant)	Glutaryl-CoA oxidase deficiency	GLikely pathogenic
Select item 2577159	NM_001193313.2(SUGCT):c.314G>A (p.Ser105Asn)	SUGCT (S105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2080351	NM_001193313.2(SUGCT):c.340A>G (p.Lys114Glu)	SUGCT (K114E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258557	NM_001193313.2(SUGCT):c.364-124G>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2968337	NM_001193313.2(SUGCT):c.456T>C (p.Ala152=)	SUGCT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1635343	NM_001193313.2(SUGCT):c.478A>C (p.Ile160Leu)	SUGCT (I123L +1 more)	Single nucleotide variant (missense variant)	SUGCT-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1288051	NM_001193313.2(SUGCT):c.484+96del	SUGCT	Deletion (intron variant)	not provided	GBenign
Select item 1278278	NM_001193313.2(SUGCT):c.484+179_484+180del	SUGCT	Deletion (intron variant)	not provided	GBenign
Select item 1243241	NM_001193313.2(SUGCT):c.484+180del	SUGCT	Deletion (intron variant)	not provided	GBenign
Select item 1248001	NM_001193313.2(SUGCT):c.484+264C>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151577	GRCh38/hg38 7p14.1(chr7:40217013-40238467)x1	SUGCT	Copy number loss	See cases	GLikely benign
Select item 559091	NM_001193313.2(SUGCT):c.485-6T>C	SUGCT	Single nucleotide variant (intron variant)	SUGCT-related disorder +1 more	GBenign
Select item 1850	NM_001193313.2(SUGCT):c.514C>T (p.Arg172Ter)	SUGCT (R135* +1 more)	Single nucleotide variant (nonsense)	Glutaryl-CoA oxidase deficiency	GPathogenic
Select item 1416182	NM_001193313.2(SUGCT):c.518C>T (p.Ala173Val)	SUGCT (A173V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2390708	NM_001193313.2(SUGCT):c.539C>T (p.Ser180Leu)	SUGCT (S143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745122	NM_001193313.2(SUGCT):c.553C>T (p.Leu185=)	SUGCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1280664	NM_001193313.2(SUGCT):c.577-57A>C	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1941220	NM_001193313.2(SUGCT):c.585T>C (p.Asp195=)	SUGCT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2600582	NM_001193313.2(SUGCT):c.593G>A (p.Arg198His)	SUGCT (R198H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1610379	NM_001193313.2(SUGCT):c.597A>C (p.Pro199=)	SUGCT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2323117	NM_001193313.2(SUGCT):c.620C>T (p.Ala207Val)	SUGCT (A207V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 559092	NM_001193313.2(SUGCT):c.630G>A (p.Leu210=)	SUGCT	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2909874	NM_001193313.2(SUGCT):c.645T>G (p.Ala215=)	SUGCT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1470187	NM_001193313.2(SUGCT):c.646A>T (p.Ile216Phe)	SUGCT (I179F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2003861	NM_001193313.2(SUGCT):c.682A>G (p.Lys228Glu)	SUGCT (K228E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 559093	NM_001193313.2(SUGCT):c.708A>G (p.Leu236=)	SUGCT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1291780	NM_001193313.2(SUGCT):c.720+98A>G	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279860	NM_001193313.2(SUGCT):c.721-205T>C	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267236	NM_001193313.2(SUGCT):c.721-54G>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177847	NM_001193313.2(SUGCT):c.721-44A>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2182176	NM_001193313.2(SUGCT):c.721-8C>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 559298	NM_001193313.2(SUGCT):c.733T>C (p.Ser245Pro)	SUGCT (S215P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878507	NM_001193313.2(SUGCT):c.747A>G (p.Ala249=)	SUGCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988675	NM_001193313.2(SUGCT):c.778C>T (p.Arg260Cys)	SUGCT (R223C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2313173	NM_001193313.2(SUGCT):c.779G>A (p.Arg260His)	SUGCT (R212H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 718621	NM_001193313.2(SUGCT):c.780T>C (p.Arg260=)	SUGCT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3323562	NM_001193313.2(SUGCT):c.800G>C (p.Ser267Thr)	SUGCT (S267T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244586	NM_001193313.2(SUGCT):c.816+263G>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232014	NM_001193313.2(SUGCT):c.816+270G>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283757	NM_001193313.2(SUGCT):c.816+288_816+289del	SUGCT	Deletion (intron variant)	not provided	GBenign
Select item 1293918	NM_001193313.2(SUGCT):c.817-102_817-101del	SUGCT	Deletion (intron variant)	not provided	GBenign
Select item 1276826	NM_001193313.2(SUGCT):c.817-34A>C	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3171963	NM_001193313.2(SUGCT):c.839A>G (p.Tyr280Cys)	SUGCT (Y232C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171964	NM_001193313.2(SUGCT):c.875C>G (p.Ala292Gly)	SUGCT (A244G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2172539	NM_001193313.2(SUGCT):c.888+8A>G	SUGCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289149	NM_001193313.2(SUGCT):c.888+126C>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2993220	NM_001193313.2(SUGCT):c.889-17T>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 559094	NM_001193313.2(SUGCT):c.889-7C>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2273259	NM_001193313.2(SUGCT):c.895G>T (p.Asp299Tyr)	SUGCT (D299Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2155825	NM_001193313.2(SUGCT):c.919T>C (p.Ser307Pro)	SUGCT (S259P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1849	NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)	SUGCT (R299W +3 more)	Single nucleotide variant (missense variant)	SUGCT-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1287069	NM_001193313.2(SUGCT):c.986+32G>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725740	NM_001193313.2(SUGCT):c.987-4T>C	SUGCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248143	NM_001193313.2(SUGCT):c.1090-65667C>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1397410	NM_001193313.2(SUGCT):c.1090-65321C>T	SUGCT (H383Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953831	NM_001193313.2(SUGCT):c.1090-65316T>A	SUGCT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 634624	NM_001193313.2(SUGCT):c.1090-65315C>T	SUGCT (Q355* +2 more)	Single nucleotide variant (nonsense +1 more)	Glutaryl-CoA oxidase deficiency	GUncertain significance
Select item 2060991	NM_001193313.2(SUGCT):c.1108G>A (p.Val370Ile)	SUGCT (V322I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2