TUT1[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 3184958	NM_022830.3(TUT1):c.2608A>G (p.Ile870Val)	TUT1 (I870V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 708569	NM_022830.3(TUT1):c.2560C>T (p.Leu854=)	TUT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3330305	NM_022830.3(TUT1):c.2525T>A (p.Met842Lys)	TUT1 (M842K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2611552	NM_022830.3(TUT1):c.2522G>A (p.Arg841Gln)	TUT1 (R841Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2641881	NM_022830.3(TUT1):c.2514G>T (p.Pro838=)	TUT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3184957	NM_022830.3(TUT1):c.2510C>G (p.Ser837Cys)	TUT1 (S837C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2623942	NM_022830.3(TUT1):c.2501C>T (p.Ala834Val)	TUT1 (A834V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2592598	NM_022830.3(TUT1):c.2413G>C (p.Ala805Pro)	TUT1 (A805P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2554463	NM_022830.3(TUT1):c.2405G>T (p.Gly802Val)	TUT1 (G802V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 713413	NM_022830.3(TUT1):c.2373G>A (p.Glu791=)	TUT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1055877	NM_022830.3(TUT1):c.2362del (p.Gln788fs)	TUT1 (Q788fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3184955	NM_022830.3(TUT1):c.2339G>A (p.Arg780Gln)	TUT1 (R780Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2511515	NM_022830.3(TUT1):c.2285C>A (p.Ser762Tyr)	TUT1 (S762Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 736073	NM_022830.3(TUT1):c.2238C>T (p.Ala746=)	TUT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3330300	NM_022830.3(TUT1):c.2213G>A (p.Arg738Gln)	TUT1 (R738Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3330308	NM_022830.3(TUT1):c.2168C>G (p.Ala723Gly)	TUT1 (A723G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2252934	NM_022830.3(TUT1):c.2140C>G (p.Leu714Val)	TUT1 (L714V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 710010	NM_022830.3(TUT1):c.2061C>G (p.Asp687Glu)	TUT1 (D687E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2490736	NM_022830.3(TUT1):c.1994G>C (p.Gly665Ala)	TUT1 (G665A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2247561	NM_022830.3(TUT1):c.1928G>A (p.Arg643Gln)	TUT1 (R643Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2470753	NM_022830.3(TUT1):c.1904T>A (p.Ile635Lys)	TUT1 (I635K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2372989	NM_022830.3(TUT1):c.1865C>T (p.Ala622Val)	TUT1 (A622V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2523530	NM_022830.3(TUT1):c.1823C>T (p.Pro608Leu)	TUT1 (P608L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2375162	NM_022830.3(TUT1):c.1823C>G (p.Pro608Arg)	TUT1 (P608R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3330304	NM_022830.3(TUT1):c.1764C>A (p.Asp588Glu)	TUT1 (D588E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3184954	NM_022830.3(TUT1):c.1762G>C (p.Asp588His)	TUT1 (D588H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2325495	NM_022830.3(TUT1):c.1745G>A (p.Arg582His)	TUT1 (R582H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3184953	NM_022830.3(TUT1):c.1744C>T (p.Arg582Cys)	TUT1 (R582C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2364290	NM_022830.3(TUT1):c.1724G>A (p.Arg575Gln)	TUT1 (R575Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2591861	NM_022830.3(TUT1):c.1712C>T (p.Ala571Val)	TUT1 (A571V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2469549	NM_022830.3(TUT1):c.1711G>T (p.Ala571Ser)	TUT1 (A571S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2229031	NM_022830.3(TUT1):c.1673G>A (p.Arg558Gln)	TUT1 (R558Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 871577	NM_022830.3(TUT1):c.1672C>T (p.Arg558Trp)	TUT1 (R558W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2300651	NM_022830.3(TUT1):c.1671C>G (p.Ser557Arg)	TUT1 (S557R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3184952	NM_022830.3(TUT1):c.1574G>T (p.Gly525Val)	TUT1 (G525V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3184951	NM_022830.3(TUT1):c.1529C>T (p.Ser510Phe)	TUT1 (S510F)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 715491	NM_022830.3(TUT1):c.1474+7T>C	TUT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3184950	NM_022830.3(TUT1):c.1463T>C (p.Val488Ala)	TUT1 (V488A)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3330303	NM_022830.3(TUT1):c.1462G>C (p.Val488Leu)	TUT1 (V488L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247044	NM_022830.3(TUT1):c.1386G>T (p.Glu462Asp)	TUT1 (G443W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3330301	NM_022830.3(TUT1):c.1370C>T (p.Thr457Ile)	TUT1 (T457I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2207882	NM_022830.3(TUT1):c.1319A>G (p.Tyr440Cys)	TUT1 (Y440C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592098	NM_022830.3(TUT1):c.1312G>A (p.Val438Met)	TUT1 (V438M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213401	NM_022830.3(TUT1):c.1310T>G (p.Leu437Arg)	TUT1 (L437R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 402172	NM_022830.3(TUT1):c.1297G>A (p.Ala433Thr)	TUT1 (A433T)	Single nucleotide variant (missense variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 2259900	NM_022830.3(TUT1):c.1258C>T (p.Arg420Trp)	TUT1 (R420W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184949	NM_022830.3(TUT1):c.1228G>A (p.Val410Met)	TUT1 (V410M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 871578	NM_022830.3(TUT1):c.1214G>A (p.Arg405Gln)	TUT1 (R405Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789209	NM_022830.3(TUT1):c.1181G>A (p.Arg394His)	TUT1 (R394H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3184948	NM_022830.3(TUT1):c.1178C>G (p.Ser393Cys)	TUT1 (S393C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468297	NM_022830.3(TUT1):c.1159C>T (p.Arg387Trp)	TUT1 (R387W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317567	NM_022830.3(TUT1):c.1063G>A (p.Val355Met)	TUT1 (V355M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349945	NM_022830.3(TUT1):c.1018A>G (p.Met340Val)	TUT1 (M340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212736	NM_022830.3(TUT1):c.1009G>A (p.Gly337Arg)	TUT1 (G337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340973	NM_022830.3(TUT1):c.997G>A (p.Glu333Lys)	TUT1 (E333K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467561	NM_022830.3(TUT1):c.944G>C (p.Arg315Thr)	TUT1 (R315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260170	NM_022830.3(TUT1):c.797C>T (p.Pro266Leu)	TUT1 (P266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224643	NM_022830.3(TUT1):c.728C>T (p.Ser243Leu)	TUT1 (S243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184965	NM_022830.3(TUT1):c.718T>C (p.Ser240Pro)	TUT1 (S240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324289	NM_022830.3(TUT1):c.703G>C (p.Ala235Pro)	TUT1 (A235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760836	NM_022830.3(TUT1):c.691-8G>T	TUT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713414	NM_022830.3(TUT1):c.691-8G>A	TUT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3184963	NM_022830.3(TUT1):c.617C>T (p.Ser206Phe)	TUT1 (S206F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330306	NM_022830.3(TUT1):c.608T>C (p.Phe203Ser)	TUT1 (F203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291720	NM_022830.3(TUT1):c.539G>A (p.Arg180His)	TUT1 (R180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184961	NM_022830.3(TUT1):c.530G>A (p.Arg177Gln)	TUT1 (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219781	NM_022830.3(TUT1):c.425C>T (p.Ala142Val)	TUT1 (A142V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184960	NM_022830.3(TUT1):c.376C>T (p.Arg126Trp)	TUT1 (R126W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330307	NM_022830.3(TUT1):c.80A>G (p.Asn27Ser)	TUT1 (N27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454291	NM_022830.3(TUT1):c.38G>C (p.Arg13Pro)	TUT1 (R13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401129	NM_022830.3(TUT1):c.27A>T (p.Glu9Asp)	TUT1 (E9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184947	NM_022830.3(TUT1):c.10G>T (p.Val4Leu)	TUT1 (V4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384919	NM_022830.3(TUT1):c.-12A>G	TUT1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2353634	NM_022830.2(TUT1):c.67C>T (p.Arg23Trp)	TUT1 (R23W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255614	NM_022830.2(TUT1):c.66C>G (p.Phe22Leu)	TUT1 (F22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762923	NM_022830.2(TUT1):c.63G>C (p.Gly21=)	TUT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184959	NM_022830.2(TUT1):c.35C>T (p.Ser12Phe)	TUT1 (S12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781959	NM_022830.2(TUT1):c.10delC (p.Pro4Leufs)	TUT1	Deletion (frameshift variant)	not provided	GBenign
Select item 3184964	NM_022830.2(TUT1):c.7C>T (p.Leu3Phe)	TUT1 (L3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244738	NC_000011.9:g.(?_62105450)_(62414071_?)dup	AHNAK, ASRGL1 +8 more	Duplication	not provided	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

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Items: 95