TTK[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 155132	GRCh38/hg38 6q14.1(chr6:78661176-80245532)x1	BCKDHB, ELOVL4 +27 more	Copy number loss	See cases	GUncertain significance
Select item 2363116	NM_003318.5(TTK):c.136A>G (p.Thr46Ala)	TTK (T46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252283	NM_003318.5(TTK):c.208C>T (p.Leu70Phe)	TTK (L70F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405234	NM_003318.5(TTK):c.233C>T (p.Pro78Leu)	TTK (P78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319057	NM_003318.5(TTK):c.304A>G (p.Lys102Glu)	TTK (K102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473417	NM_003318.5(TTK):c.324T>A (p.Ser108Arg)	TTK (S108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329957	NM_003318.5(TTK):c.325T>A (p.Phe109Ile)	TTK (F109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301642	NM_003318.5(TTK):c.325T>C (p.Phe109Leu)	TTK (F109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329956	NM_003318.5(TTK):c.326T>C (p.Phe109Ser)	TTK (F109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329960	NM_003318.5(TTK):c.377A>G (p.Asp126Gly)	TTK (D126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329955	NM_003318.5(TTK):c.385C>T (p.Arg129Cys)	TTK (R129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234302	NM_003318.5(TTK):c.437A>G (p.His146Arg)	TTK (H146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184501	NM_003318.5(TTK):c.443C>G (p.Ser148Cys)	TTK (S148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290201	NM_003318.5(TTK):c.472A>G (p.Asn158Asp)	TTK (N158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538506	NM_003318.5(TTK):c.496C>A (p.Leu166Ile)	TTK (L166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748445	NM_003318.5(TTK):c.615A>G (p.Ala205=)	TTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272028	NM_003318.5(TTK):c.656T>A (p.Leu219His)	TTK (L219H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284564	NM_003318.5(TTK):c.725A>G (p.Tyr242Cys)	TTK (Y242C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348493	NM_003318.5(TTK):c.746A>C (p.Gln249Pro)	TTK (Q249P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289965	NM_003318.5(TTK):c.755A>G (p.Glu252Gly)	TTK (E252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329954	NM_003318.5(TTK):c.758T>C (p.Ile253Thr)	TTK (I253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184502	NM_003318.5(TTK):c.763T>C (p.Tyr255His)	TTK (Y255H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184503	NM_003318.5(TTK):c.863C>T (p.Thr288Ile)	TTK (T288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482237	NM_003318.5(TTK):c.877G>A (p.Val293Ile)	TTK (V293I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590786	NM_003318.5(TTK):c.956A>G (p.Asn319Ser)	TTK (N319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210156	NM_003318.5(TTK):c.988G>C (p.Val330Leu)	TTK (V330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268522	NM_003318.5(TTK):c.1051A>G (p.Thr351Ala)	TTK (T351A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605984	NM_003318.5(TTK):c.1201G>C (p.Ala401Pro)	TTK (A401P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184495	NM_003318.5(TTK):c.1205C>T (p.Ala402Val)	TTK (A402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788996	NM_003318.5(TTK):c.1230G>A (p.Pro410=)	TTK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3184496	NM_003318.5(TTK):c.1246G>C (p.Val416Leu)	TTK (V416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775239	NM_003318.5(TTK):c.1269C>G (p.Thr423=)	TTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3329958	NM_003318.5(TTK):c.1317A>G (p.Ile439Met)	TTK (I439M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391196	NM_003318.5(TTK):c.1348A>G (p.Ile450Val)	TTK (I449V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329953	NM_003318.5(TTK):c.1358C>T (p.Thr453Ile)	TTK (T452I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184497	NM_003318.5(TTK):c.1660T>C (p.Tyr554His)	TTK (Y553H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381711	NM_003318.5(TTK):c.1667A>G (p.Asn556Ser)	TTK (N555S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496430	NM_003318.5(TTK):c.1763T>A (p.Leu588His)	TTK (L588H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347124	NM_003318.5(TTK):c.1825C>T (p.Leu609Phe)	TTK (L608F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184498	NM_003318.5(TTK):c.1925G>A (p.Gly642Asp)	TTK (G641D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390481	NM_003318.5(TTK):c.2043T>G (p.Asp681Glu)	TTK (D680E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 376700	NM_003318.5(TTK):c.2089G>T (p.Asp697Tyr)	TTK (D696Y +1 more)	Single nucleotide variant (missense variant)	Neoplasm of the pancreas	GLikely pathogenic
Select item 3184499	NM_003318.5(TTK):c.2114G>A (p.Gly705Glu)	TTK (G704E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322459	NM_003318.5(TTK):c.2135G>T (p.Ser712Ile)	TTK (S712I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184500	NM_003318.5(TTK):c.2177A>G (p.Tyr726Cys)	TTK (Y726C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329959	NM_003318.5(TTK):c.2188G>A (p.Gly730Arg)	TTK (G729R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286088	NM_003318.5(TTK):c.2282A>G (p.Glu761Gly)	TTK (E761G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787538	NM_003318.5(TTK):c.2392+9T>A	TTK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2599296	NM_003318.5(TTK):c.2453G>A (p.Gly818Asp)	TTK (G817D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716028	NM_003318.5(TTK):c.2467A>C (p.Asn823His)	TTK (N822H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2590276	NM_003318.5(TTK):c.2507A>G (p.Tyr836Cys)	TTK (Y835C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277978	NM_003318.5(TTK):c.2515G>A (p.Gly839Ser)	TTK (G838S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245949	NC_000006.11:g.(?_79650410)_(81053521_?)del	LINC01621, HMGN3 +6 more	Deletion	Maple syrup urine disease	GPathogenic
Select item 2685207	GRCh37/hg19 6q14.1(chr6:79199356-80915988)x1	BCKDHB, ELOVL4 +7 more	Copy number loss	not provided	GPathogenic
Select item 2426770	NC_000006.11:g.(?_79650410)_(80912949_?)del	BCKDHB, ELOVL4 +6 more	Deletion	Maple syrup urine disease	GPathogenic
Select item 1808485	GRCh37/hg19 6q14.1(chr6:77773778-80880138)x3	BCKDHB, ELOVL4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527256	GRCh37/hg19 6q14.1(chr6:80601067-80716453)	ELOVL4, TTK	Copy number loss	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	BCKDHB, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 686265	GRCh37/hg19 6q14.1(chr6:78216253-82753743)x3	BCKDHB, ELOVL4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685021	GRCh37/hg19 6q14.1(chr6:80557845-80897919)x1	BCKDHB, ELOVL4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563198	GRCh37/hg19 6q14.1(chr6:80480799-81040515)x3	TTK, BCKDHB +2 more	Copy number gain	not provided	GUncertain significance
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 70