TSEN15[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 57817	GRCh38/hg38 1q25.3(chr1:183828804-184670837)x3	C1orf21, C1orf21-DT +21 more	Copy number gain	See cases	GUncertain significance
Select item 146665	GRCh38/hg38 1q25.3(chr1:183892070-184122138)x3	COLGALT2, LOC111501763 +10 more	Copy number gain	See cases	GBenign
Select item 1232717	NC_000001.11:g.184051629C>T	LOC112577522, TSEN15	Single nucleotide variant	not provided	GBenign
Select item 1222860	NC_000001.11:g.184051687G>A	LOC112577522, TSEN15	Single nucleotide variant	not provided	GBenign
Select item 1282462	NC_000001.11:g.184051715C>A	LOC112577522, TSEN15	Single nucleotide variant	not provided	GBenign
Select item 3038526	NM_052965.4(TSEN15):c.-5C>T	LOC112577522, TSEN15	Single nucleotide variant (5 prime UTR variant +1 more)	TSEN15-related disorder	GLikely benign
Select item 2492468	NM_052965.4(TSEN15):c.13G>A (p.Gly5Ser)	LOC112577522, TSEN15 (G5S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183583	NM_052965.4(TSEN15):c.22G>C (p.Glu8Gln)	LOC112577522, TSEN15 (E8Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478888	NM_052965.4(TSEN15):c.28A>G (p.Thr10Ala)	LOC112577522, TSEN15 (T10A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183584	NM_052965.4(TSEN15):c.31C>A (p.Pro11Thr)	LOC112577522, TSEN15 (P11T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1317347	NM_052965.4(TSEN15):c.36C>T (p.Gly12=)	LOC112577522, TSEN15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3183586	NM_052965.4(TSEN15):c.40A>G (p.Ser14Gly)	LOC112577522, TSEN15 (S14G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057340	NM_052965.4(TSEN15):c.46C>A (p.Leu16Met)	LOC112577522, TSEN15 (L16M)	Single nucleotide variant (missense variant +1 more)	TSEN15-related disorder	GLikely benign
Select item 1249884	NM_052965.4(TSEN15):c.56G>A (p.Gly19Asp)	TSEN15 (G19D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2256845	NM_052965.4(TSEN15):c.67G>C (p.Gly23Arg)	TSEN15 (G23R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203904	NM_052965.4(TSEN15):c.76G>T (p.Asp26Tyr)	TSEN15 (D26Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230961	NM_052965.4(TSEN15):c.85G>A (p.Gly29Arg)	TSEN15 (G29R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329550	NM_052965.4(TSEN15):c.135+4A>T	TSEN15	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1317866	NM_052965.4(TSEN15):c.135+109C>T	TSEN15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317522	NM_052965.4(TSEN15):c.135+297G>A	TSEN15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3329549	NM_052965.4(TSEN15):c.146T>C (p.Met49Thr)	TSEN15 (M49T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1284754	NM_052965.4(TSEN15):c.177A>C (p.Gln59His)	TSEN15 (Q59H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3048188	NM_052965.4(TSEN15):c.189G>A (p.Ala63=)	TSEN15	Single nucleotide variant (synonymous variant +1 more)	TSEN15-related disorder	GLikely benign
Select item 1318401	NM_052965.4(TSEN15):c.217+98T>C	TSEN15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271827	NM_052965.4(TSEN15):c.218-16A>G	TSEN15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 183315	NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly)	TSEN15 (W76G)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, type 2F	GUncertain significance
Select item 623710	NM_052965.4(TSEN15):c.241T>C (p.Cys81Arg)	TSEN15 (C81R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639629	NM_052965.4(TSEN15):c.285T>G (p.Thr95=)	TSEN15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2277240	NM_052965.4(TSEN15):c.302G>C (p.Gly101Ala)	TSEN15 (G101A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 243001	NM_052965.4(TSEN15):c.346C>T (p.His116Tyr)	TSEN15 (H116Y)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, type 2F	GLikely pathogenic
Select item 1241172	NM_052965.4(TSEN15):c.353+122A>G	TSEN15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238853	NM_052965.4(TSEN15):c.353+216del	TSEN15	Deletion (intron variant)	not provided	GBenign
Select item 1318393	NM_052965.4(TSEN15):c.353+281G>A	TSEN15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316749	NM_052965.4(TSEN15):c.354-34G>A	TSEN15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2349610	NM_052965.4(TSEN15):c.380G>A (p.Arg127Gln)	TSEN15 (R127Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2399699	NM_052965.4(TSEN15):c.411G>A (p.Met137Ile)	TSEN15 (M137I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2278484	NM_052965.4(TSEN15):c.448A>G (p.Ile150Val)	TSEN15 (I150V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 243000	NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys)	TSEN15 (Y152C)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia, type 2F	GPathogenic
Select item 2486350	NM_052965.4(TSEN15):c.489C>A (p.Asp163Glu)	TSEN15 (D163E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2639630	NM_052965.4(TSEN15):c.495+54G>A	TSEN15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286172	NM_052965.4(TSEN15):c.495+207dup	TSEN15	Duplication (intron variant)	not provided	GBenign
Select item 1231892	NM_052965.4(TSEN15):c.496-235G>A	TSEN15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240551	NM_052965.4(TSEN15):c.496-194dup	TSEN15	Duplication (intron variant)	not provided	GBenign
Select item 1317689	NM_052965.4(TSEN15):c.496-42G>T	TSEN15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263603	NM_052965.4(TSEN15):c.*77T>C	TSEN15	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979312	GRCh37/hg19 1q25.3(chr1:183917739-184192431)x3	TSEN15, COLGALT2	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565205	GRCh37/hg19 1q25.3(chr1:183827844-184317756)x3	COLGALT2, RGL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 70