TESK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ERVFRD-3, FAM219A +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	LOC129662434, LOC130001682 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 3176174	NM_006285.3(TESK1):c.224G>T (p.Arg75Leu)	LOC124252633, TESK1 (R75L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2382041	NM_006285.3(TESK1):c.490C>T (p.Arg164Trp)	TESK1 (R164W)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2211946	NM_006285.3(TESK1):c.563G>A (p.Arg188Gln)	TESK1 (R188Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2552960	NM_006285.3(TESK1):c.652G>A (p.Val218Met)	TESK1 (V58M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472215	NM_006285.3(TESK1):c.896G>A (p.Ser299Asn)	TESK1 (S139N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176175	NM_006285.3(TESK1):c.934G>A (p.Glu312Lys)	TESK1 (E312K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176168	NM_006285.3(TESK1):c.1009G>A (p.Ala337Thr)	TESK1 (A337T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234560	NM_006285.3(TESK1):c.1021C>T (p.Pro341Ser)	TESK1 (P341S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252662	NM_006285.3(TESK1):c.1106C>G (p.Pro369Arg)	TESK1 (P209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362806	NM_006285.3(TESK1):c.1112G>C (p.Trp371Ser)	TESK1 (W211S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555372	NM_006285.3(TESK1):c.1204G>A (p.Val402Ile)	TESK1 (V402I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222557	NM_006285.3(TESK1):c.1301G>A (p.Arg434His)	TESK1 (R274H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594299	NM_006285.3(TESK1):c.1307G>A (p.Arg436His)	TESK1 (R276H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176170	NM_006285.3(TESK1):c.1327G>A (p.Glu443Lys)	TESK1 (E443K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210384	NM_006285.3(TESK1):c.1360G>A (p.Gly454Ser)	TESK1 (G294S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483810	NM_006285.3(TESK1):c.1369C>T (p.Pro457Ser)	TESK1 (P457S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290919	NM_006285.3(TESK1):c.1430C>T (p.Pro477Leu)	TESK1 (P317L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331813	NM_006285.3(TESK1):c.1471G>T (p.Ala491Ser)	TESK1 (A491S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204759	NM_006285.3(TESK1):c.1487T>C (p.Ile496Thr)	TESK1 (I496T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370733	NM_006285.3(TESK1):c.1502C>T (p.Ser501Leu)	TESK1 (S341L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355864	NM_006285.3(TESK1):c.1537G>A (p.Val513Ile)	TESK1 (V353I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588736	NM_006285.3(TESK1):c.1550A>G (p.Asn517Ser)	TESK1 (N517S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176172	NM_006285.3(TESK1):c.1619G>A (p.Ser540Asn)	TESK1 (S540N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333052	NM_006285.3(TESK1):c.1631C>T (p.Ala544Val)	TESK1 (A544V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308521	NM_006285.3(TESK1):c.1645C>T (p.Arg549Trp)	TESK1 (R389W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373278	NM_006285.3(TESK1):c.1655C>G (p.Pro552Arg)	TESK1 (P392R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176173	NM_006285.3(TESK1):c.1666C>G (p.Pro556Ala)	TESK1 (P396A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390777	NM_006285.3(TESK1):c.1679G>A (p.Arg560Gln)	TESK1 (R400Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233743	NM_006285.3(TESK1):c.1687G>A (p.Asp563Asn)	TESK1 (D403N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290920	NM_006285.3(TESK1):c.1688A>G (p.Asp563Gly)	TESK1 (D403G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468526	NM_006285.3(TESK1):c.1778G>A (p.Arg593His)	TESK1 (R433H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	MYORG, OR13J1 +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +87 more	Duplication	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +205 more	Copy number gain	not specified	GPathogenic
Select item 1210154	GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	RMRP, RNF38 +42 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1070621	NC_000009.11:g.(?_34459004)_(36276941_?)del	FAM221B, FANCG +48 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	JAK2, KANK1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 689135	GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	ALDH1B1, ANKRD18A +74 more	Copy number gain	not provided	GPathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	ACER2, ACO1 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	IFNA1, IFNA10 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	ACER2, ACO1 +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	ABHD17B, ACO1 +185 more	Complex	Glioma	GLikely pathogenic
Select item 584345	NC_000009.11:g.(?_34458984)_(36277059_?)dup	ATOSB, CA9 +48 more	Duplication	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 583851	NC_000009.11:g.(?_34458984)_(35809462_?)del	ARID3C, ATOSB +37 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ANKRD18B, APTX +194 more	Copy number gain	not provided	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 473211	NC_000009.11:g.(?_34458984)_(35809462_?)dup	SIGMAR1, SIT1 +37 more	Duplication	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	TRMT10B, TRPM3 +274 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	ACER2, ACO1 +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	CHMP5, VLDLR +215 more	Copy number gain	See cases	GPathogenic

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