ClinVar for Gene (Select 79783) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3171962	NM_001193313.2(SUGCT):c.254G>A (p.Gly85Glu)	SUGCT (G85E)	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 3171960	NM_001193313.2(SUGCT):c.1199C>T (p.Pro400Leu)	SUGCT (P352L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062990	GRCh37/hg19 7p14.1(chr7:40302290-40533666)x1	SUGCT	Copy number loss	not specified	GUncertain significance
Select item 3062975	GRCh37/hg19 7p14.1(chr7:38484106-42786613)x1	AMPH, CDK13 +8 more	Copy number loss	not specified	GPathogenic
Select item 3062956	GRCh37/hg19 7p14.1(chr7:40258930-40397575)x1	SUGCT	Copy number loss	not specified	GUncertain significance
Select item 3058714	NM_001193313.2(SUGCT):c.313-11_313-10del	SUGCT	Deletion (intron variant)	SUGCT-related disorder	GLikely benign
Select item 3020055	NM_001193313.2(SUGCT):c.1212C>G (p.Leu404=)	SUGCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993220	NM_001193313.2(SUGCT):c.889-17T>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985477	NM_001193313.2(SUGCT):c.25G>A (p.Ala9Thr)	LOC129998297, SUGCT (A9T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2909874	NM_001193313.2(SUGCT):c.645T>G (p.Ala215=)	SUGCT	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2878507	NM_001193313.2(SUGCT):c.747A>G (p.Ala249=)	SUGCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2490623	NM_001193313.2(SUGCT):c.200C>A (p.Ala67Glu)	SUGCT (A67E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465945	NM_001193313.2(SUGCT):c.1240G>A (p.Glu414Lys)	SUGCT (E440K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426876	NC_000007.13:g.(?_40277214)_(40314275_?)del	SUGCT	Deletion	not provided	GUncertain significance
Select item 2426875	NC_000007.13:g.(?_40234618)_(40277345_?)del	SUGCT	Deletion	not provided	GUncertain significance
Select item 2426874	NC_000007.13:g.(?_40220526)_(40234679_?)del	SUGCT	Deletion	not provided	GUncertain significance
Select item 2426873	NC_000007.13:g.(?_40723635)_(40723752_?)del	SUGCT	Deletion	not provided	GUncertain significance
Select item 2424743	NC_000007.13:g.(?_40085415)_(40174739_?)dup	CDK13, MPLKIP +1 more	Duplication	not provided	GLikely benign
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 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 2321297	NM_001193313.2(SUGCT):c.265G>C (p.Val89Leu)	SUGCT (V89L)	Single nucleotide variant (missense variant)	not specified	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 2292622	NM_001193313.2(SUGCT):c.1159G>A (p.Ala387Thr)	SUGCT (A387T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274288	NM_001193313.2(SUGCT):c.7G>C (p.Ala3Pro)	LOC129998297, SUGCT (A3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2182176	NM_001193313.2(SUGCT):c.721-8C>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2172539	NM_001193313.2(SUGCT):c.888+8A>G	SUGCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2148821	NM_001193313.2(SUGCT):c.1147G>A (p.Val383Ile)	SUGCT (V335I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134481	NM_001193313.2(SUGCT):c.1129A>T (p.Thr377Ser)	SUGCT (T366S +3 more)	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 2104847	NM_001193313.2(SUGCT):c.172G>A (p.Ala58Thr)	SUGCT (A58T)	Single nucleotide variant (missense variant)	not provided	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 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 2060991	NM_001193313.2(SUGCT):c.1108G>A (p.Val370Ile)	SUGCT (V322I +3 more)	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 2022180	NM_001193313.2(SUGCT):c.1224A>G (p.Thr408=)	SUGCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2001190	NM_001193313.2(SUGCT):c.57C>T (p.Gly19=)	LOC129998297, SUGCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1982783	NM_001193313.2(SUGCT):c.1205_1206delinsTC (p.Pro402Leu)	SUGCT (P402L +3 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1976276	NM_001193313.2(SUGCT):c.313-2A>G	SUGCT	Single nucleotide variant (splice acceptor variant)	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 1941220	NM_001193313.2(SUGCT):c.585T>C (p.Asp195=)	SUGCT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1901231	NM_001193313.2(SUGCT):c.313-18A>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899490	NM_001193313.2(SUGCT):c.152+8T>C	SUGCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809329	GRCh37/hg19 7p14.1(chr7:40438477-40491628)x1	SUGCT	Copy number loss	not provided	GUncertain significance
Select item 1809308	GRCh37/hg19 7p14.1(chr7:40438477-40493899)x1	SUGCT	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1653709	NM_001193313.2(SUGCT):c.313-14T>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
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 1610379	NM_001193313.2(SUGCT):c.597A>C (p.Pro199=)	SUGCT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1590175	NM_001193313.2(SUGCT):c.1131T>C (p.Thr377=)	SUGCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539031	NM_001193313.2(SUGCT):c.92C>T (p.Pro31Leu)	SUGCT (P31L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527355	GRCh37/hg19 7p14.1(chr7:40443489-40505333)	SUGCT	Copy number loss	not specified	GUncertain significance
Select item 1527354	GRCh37/hg19 7p14.1(chr7:40260011-40399193)	SUGCT	Copy number loss	not specified	GUncertain significance
Select item 1527353	GRCh37/hg19 7p14.1(chr7:40242536-40318446)	SUGCT	Copy number loss	not specified	GUncertain significance
Select item 1527352	GRCh37/hg19 7p14.1(chr7:40116335-40240160)	CDK13, MPLKIP +1 more	Copy number loss	not specified	GPathogenic
Select item 1525026	NM_001193313.2(SUGCT):c.1154-33_1154-18del	SUGCT	Deletion (intron variant)	not provided	GUncertain significance
Select item 1496969	NM_001193313.2(SUGCT):c.1255G>A (p.Asp419Asn)	SUGCT (D371N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496596	NM_001193313.2(SUGCT):c.1165A>T (p.Arg389Ter)	SUGCT (R389* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1470179	NM_001193313.2(SUGCT):c.103A>G (p.Met35Val)	SUGCT (M35V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1459507	NC_000007.13:g.(?_39726267)_(42262852_?)del	CDK13, GLI3 +4 more	Deletion	Greig cephalopolysyndactyly syndrome +1 more	GPathogenic
Select item 1450753	NC_000007.13:g.(?_40277214)_(40277345_?)del	SUGCT	Deletion	not provided	GUncertain significance
Select item 1448636	NC_000007.13:g.(?_40488866)_(40488977_?)del	SUGCT	Deletion	not provided	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 1446891	NC_000007.13:g.(?_40127705)_(40174739_?)dup	CDK13, MPLKIP +1 more	Duplication	not provided	GUncertain significance
Select item 1416182	NM_001193313.2(SUGCT):c.518C>T (p.Ala173Val)	SUGCT (A173V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1389588	NM_001193313.2(SUGCT):c.1304A>G (p.His435Arg)	SUGCT (H435R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340639	GRCh37/hg19 7p14.1(chr7:40102960-40207962)x1	CDK13, MPLKIP +1 more	Copy number loss	not provided	GUncertain significance
Select item 1293918	NM_001193313.2(SUGCT):c.817-102_817-101del	SUGCT	Deletion (intron variant)	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 1289149	NM_001193313.2(SUGCT):c.888+126C>T	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288051	NM_001193313.2(SUGCT):c.484+96del	SUGCT	Deletion (intron variant)	not provided	GBenign
Select item 1287069	NM_001193313.2(SUGCT):c.986+32G>T	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 1283528	NM_001193313.2(SUGCT):c.227-182A>G	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 1280664	NM_001193313.2(SUGCT):c.577-57A>C	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 1279860	NM_001193313.2(SUGCT):c.721-205T>C	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 1278637	NM_001193313.2(SUGCT):c.152+128G>A	SUGCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278278	NM_001193313.2(SUGCT):c.484+179_484+180del	SUGCT	Deletion (intron variant)	not provided	GBenign

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