TUT4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 3185009	NM_001009881.3(TUT4):c.4927G>T (p.Val1643Leu)	TUT4 (V1642L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330313	NM_001009881.3(TUT4):c.4901G>A (p.Arg1634His)	TUT4 (R1634H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185008	NM_001009881.3(TUT4):c.4898A>C (p.Glu1633Ala)	TUT4 (E1632A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185007	NM_001009881.3(TUT4):c.4853A>G (p.Lys1618Arg)	TUT4 (K1617R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330320	NM_001009881.3(TUT4):c.4847C>G (p.Pro1616Arg)	TUT4 (P1616R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470718	NM_001009881.3(TUT4):c.4834G>A (p.Ala1612Thr)	TUT4 (A1612T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619584	NM_001009881.3(TUT4):c.4817T>A (p.Phe1606Tyr)	TUT4 (F1606Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185006	NM_001009881.3(TUT4):c.4670C>T (p.Ala1557Val)	TUT4 (A1556V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330321	NM_001009881.3(TUT4):c.4669G>T (p.Ala1557Ser)	TUT4 (A1557S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465570	NM_001009881.3(TUT4):c.4666G>C (p.Val1556Leu)	TUT4 (V1555L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330314	NM_001009881.3(TUT4):c.4660C>T (p.Arg1554Cys)	TUT4 (R1554C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185005	NM_001009881.3(TUT4):c.4625C>T (p.Ala1542Val)	TUT4 (A1541V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185004	NM_001009881.3(TUT4):c.4510C>T (p.Pro1504Ser)	TUT4 (P1503S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185003	NM_001009881.3(TUT4):c.4504C>A (p.Pro1502Thr)	TUT4 (P1501T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330323	NM_001009881.3(TUT4):c.4469A>G (p.Asn1490Ser)	TUT4 (N1489S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185001	NM_001009881.3(TUT4):c.4424A>G (p.Tyr1475Cys)	TUT4 (Y1475C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185000	NM_001009881.3(TUT4):c.4391C>T (p.Ala1464Val)	TUT4 (A1463V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184999	NM_001009881.3(TUT4):c.4381C>A (p.Gln1461Lys)	TUT4 (Q1460K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615941	NM_001009881.3(TUT4):c.4324G>A (p.Ala1442Thr)	TUT4 (A1442T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184997	NM_001009881.3(TUT4):c.4262G>A (p.Cys1421Tyr)	TUT4 (C1421Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595954	NM_001009881.3(TUT4):c.4224G>T (p.Gln1408His)	TUT4 (Q1407H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184996	NM_001009881.3(TUT4):c.4178G>A (p.Arg1393His)	TUT4 (R1392H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184995	NM_001009881.3(TUT4):c.4177C>T (p.Arg1393Cys)	TUT4 (R1393C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184994	NM_001009881.3(TUT4):c.4154G>A (p.Ser1385Asn)	TUT4 (S1384N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528950	NM_001009881.3(TUT4):c.4112G>A (p.Arg1371Lys)	TUT4 (R1370K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184992	NM_001009881.3(TUT4):c.4109G>A (p.Arg1370Gln)	TUT4 (R1369Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184991	NM_001009881.3(TUT4):c.4064C>T (p.Pro1355Leu)	TUT4 (P1354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330310	NM_001009881.3(TUT4):c.4042G>A (p.Asp1348Asn)	TUT4 (D1347N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607268	NM_001009881.3(TUT4):c.4024G>C (p.Asp1342His)	TUT4 (D1342H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569170	NM_001009881.3(TUT4):c.4018G>A (p.Val1340Ile)	TUT4 (V1339I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184990	NM_001009881.3(TUT4):c.3971G>A (p.Ser1324Asn)	TUT4 (S1324N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330319	NM_001009881.3(TUT4):c.3887G>A (p.Arg1296His)	TUT4 (R1296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482545	NM_001009881.3(TUT4):c.3821C>A (p.Ala1274Asp)	TUT4 (A1274D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184989	NM_001009881.3(TUT4):c.3809T>C (p.Ile1270Thr)	TUT4 (I1270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184988	NM_001009881.3(TUT4):c.3521G>A (p.Arg1174His)	TUT4 (R1174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330315	NM_001009881.3(TUT4):c.3191G>A (p.Arg1064Gln)	TUT4 (R1064Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791794	NM_001009881.3(TUT4):c.3128-7A>T	TUT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3330322	NM_001009881.3(TUT4):c.3121C>G (p.His1041Asp)	TUT4 (H1041D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719704	NM_001009881.3(TUT4):c.3096A>G (p.Glu1032=)	TUT4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3184987	NM_001009881.3(TUT4):c.3080G>A (p.Cys1027Tyr)	TUT4 (C1027Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613416	NM_001009881.3(TUT4):c.2942A>G (p.Lys981Arg)	TUT4 (K981R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184984	NM_001009881.3(TUT4):c.2882A>T (p.Glu961Val)	TUT4 (E961V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330309	NM_001009881.3(TUT4):c.2837G>A (p.Arg946Gln)	TUT4 (R946Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184983	NM_001009881.3(TUT4):c.2768A>G (p.His923Arg)	TUT4 (H923R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330317	NM_001009881.3(TUT4):c.2407A>C (p.Ser803Arg)	LOC129388522, TUT4 (S803R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184982	NM_001009881.3(TUT4):c.2387A>G (p.Asp796Gly)	TUT4 (D796G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769514	NM_001009881.3(TUT4):c.2386G>T (p.Asp796Tyr)	TUT4 (D796Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3184981	NM_001009881.3(TUT4):c.2383C>G (p.Gln795Glu)	TUT4 (Q795E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184979	NM_001009881.3(TUT4):c.2354T>G (p.Val785Gly)	TUT4 (V785G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184978	NM_001009881.3(TUT4):c.2337C>G (p.Asp779Glu)	TUT4 (D779E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184977	NM_001009881.3(TUT4):c.2275G>A (p.Glu759Lys)	TUT4 (E759K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526277	NM_001009881.3(TUT4):c.2221A>G (p.Met741Val)	TUT4 (M741V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525876	NM_001009881.3(TUT4):c.2210A>G (p.Lys737Arg)	TUT4 (K737R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184976	NM_001009881.3(TUT4):c.2152T>A (p.Ser718Thr)	TUT4 (S718T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545241	NM_001009881.3(TUT4):c.2147A>G (p.Asn716Ser)	TUT4 (N716S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330312	NM_001009881.3(TUT4):c.2113C>T (p.Arg705Trp)	TUT4 (R705W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184973	NM_001009881.3(TUT4):c.1762A>G (p.Lys588Glu)	TUT4 (K588E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509204	NM_001009881.3(TUT4):c.1604C>T (p.Pro535Leu)	TUT4 (P535L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184972	NM_001009881.3(TUT4):c.1601A>G (p.Lys534Arg)	TUT4 (K534R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330311	NM_001009881.3(TUT4):c.1496C>T (p.Ala499Val)	TUT4 (A499V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184971	NM_001009881.3(TUT4):c.1447C>G (p.Leu483Val)	TUT4 (L483V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184970	NM_001009881.3(TUT4):c.1391G>T (p.Gly464Val)	TUT4 (G464V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184969	NM_001009881.3(TUT4):c.1354A>G (p.Lys452Glu)	TUT4 (K452E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184968	NM_001009881.3(TUT4):c.1229G>A (p.Ser410Asn)	TUT4 (S410N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623637	NM_001009881.3(TUT4):c.1210A>G (p.Thr404Ala)	TUT4 (T404A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492582	NM_001009881.3(TUT4):c.1153A>G (p.Lys385Glu)	TUT4 (K385E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590393	NM_001009881.3(TUT4):c.1136T>C (p.Ile379Thr)	TUT4 (I379T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184967	NM_001009881.3(TUT4):c.1036C>T (p.Pro346Ser)	TUT4 (P346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184966	NM_001009881.3(TUT4):c.1025G>A (p.Arg342His)	TUT4 (R342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330318	NM_001009881.3(TUT4):c.995T>C (p.Ile332Thr)	TUT4 (I332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185019	NM_001009881.3(TUT4):c.980G>A (p.Arg327Gln)	TUT4 (R327Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593185	NM_001009881.3(TUT4):c.907C>T (p.Arg303Trp)	TUT4 (R303W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604702	NM_001009881.3(TUT4):c.902A>G (p.Asn301Ser)	TUT4 (N301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530721	NM_001009881.3(TUT4):c.791T>C (p.Ile264Thr)	TUT4 (I264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475654	NM_001009881.3(TUT4):c.740C>G (p.Ser247Cys)	TUT4 (S247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185016	NM_001009881.3(TUT4):c.735T>A (p.Asp245Glu)	TUT4 (D245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185015	NM_001009881.3(TUT4):c.699A>T (p.Glu233Asp)	TUT4 (E233D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185014	NM_001009881.3(TUT4):c.668G>A (p.Gly223Asp)	TUT4 (G223D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485385	NM_001009881.3(TUT4):c.663T>G (p.Asn221Lys)	TUT4 (N221K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719705	NM_001009881.3(TUT4):c.566C>T (p.Thr189Ile)	TUT4 (T189I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3185013	NM_001009881.3(TUT4):c.557G>C (p.Ser186Thr)	TUT4 (S186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185012	NM_001009881.3(TUT4):c.550A>T (p.Ile184Phe)	TUT4 (I184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185011	NM_001009881.3(TUT4):c.509A>G (p.Asp170Gly)	TUT4 (D170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184998	NM_001009881.3(TUT4):c.427G>A (p.Ala143Thr)	TUT4 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780240	NM_001009881.3(TUT4):c.384A>G (p.Ala128=)	TUT4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2638817	NM_001009881.3(TUT4):c.324C>T (p.Ala108=)	TUT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184985	NM_001009881.3(TUT4):c.307A>G (p.Asn103Asp)	TUT4 (N103D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597124	NM_001009881.3(TUT4):c.307A>C (p.Asn103His)	TUT4 (N103H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523828	NM_001009881.3(TUT4):c.265G>A (p.Val89Ile)	TUT4 (V89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330316	NM_001009881.3(TUT4):c.253G>C (p.Asp85His)	TUT4 (D85H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184980	NM_001009881.3(TUT4):c.236A>G (p.Asn79Ser)	TUT4 (N79S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184975	NM_001009881.3(TUT4):c.208G>A (p.Val70Ile)	TUT4 (V70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184974	NM_001009881.3(TUT4):c.182A>T (p.Asn61Ile)	TUT4 (N61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471673	NM_001009881.3(TUT4):c.110G>T (p.Arg37Ile)	TUT4 (R37I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185017	NM_001009881.3(TUT4):c.82G>A (p.Val28Ile)	TUT4 (V28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance

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