ClinVar for Gene (Select 10460) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324178	NM_006342.3(TACC3):c.2479A>T (p.Ile827Phe)	TACC3 (I467F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324177	NM_006342.3(TACC3):c.1210C>T (p.His404Tyr)	TACC3 (H404Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173339	NM_006342.3(TACC3):c.857A>G (p.Asp286Gly)	TACC3 (D286G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173338	NM_006342.3(TACC3):c.781G>A (p.Gly261Arg)	TACC3 (G261R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173337	NM_006342.3(TACC3):c.746C>T (p.Thr249Ile)	TACC3 (T249I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173336	NM_006342.3(TACC3):c.739G>C (p.Val247Leu)	TACC3 (V247L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173335	NM_006342.3(TACC3):c.670T>C (p.Cys224Arg)	TACC3 (C224R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173334	NM_006342.3(TACC3):c.667G>C (p.Glu223Gln)	TACC3 (E223Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173333	NM_006342.3(TACC3):c.661G>A (p.Glu221Lys)	TACC3 (E221K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3173332	NM_006342.3(TACC3):c.643G>A (p.Glu215Lys)	TACC3 (E215K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173331	NM_006342.3(TACC3):c.611A>T (p.Asp204Val)	TACC3 (D204V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173330	NM_006342.3(TACC3):c.568T>G (p.Ser190Ala)	TACC3 (S190A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173329	NM_006342.3(TACC3):c.509C>T (p.Ser170Phe)	TACC3 (S170F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173328	NM_006342.3(TACC3):c.466A>G (p.Ser156Gly)	TACC3 (S156G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173327	NM_006342.3(TACC3):c.367G>A (p.Glu123Lys)	TACC3 (E123K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173326	NM_006342.3(TACC3):c.259A>G (p.Thr87Ala)	TACC3 (T87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173325	NM_006342.3(TACC3):c.2310C>G (p.His770Gln)	TACC3 (H410Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173324	NM_006342.3(TACC3):c.222G>A (p.Met74Ile)	TACC3 (M74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173323	NM_006342.3(TACC3):c.1937C>A (p.Ala646Glu)	TACC3 (A646E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173322	NM_006342.3(TACC3):c.1864G>A (p.Ala622Thr)	TACC3 (A622T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173321	NM_006342.3(TACC3):c.1840C>G (p.Pro614Ala)	TACC3 (P614A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173320	NM_006342.3(TACC3):c.1528A>C (p.Thr510Pro)	TACC3 (T150P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173319	NM_006342.3(TACC3):c.1486A>T (p.Thr496Ser)	TACC3 (T496S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173318	NM_006342.3(TACC3):c.1442C>T (p.Thr481Ile)	TACC3 (T481I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173317	NM_006342.3(TACC3):c.1411G>A (p.Asp471Asn)	TACC3 (D111N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173316	NM_006342.3(TACC3):c.1348G>C (p.Gly450Arg)	TACC3 (G450R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173315	NM_006342.3(TACC3):c.1054C>T (p.Pro352Ser)	TACC3 (P352S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173314	NM_006342.3(TACC3):c.1000G>A (p.Gly334Arg)	TACC3 (G334R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	CTBP1, CYTL1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2685036	GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4	FAM53A, FGFR3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2621322	NM_006342.3(TACC3):c.1153G>A (p.Asp385Asn)	TACC3 (D385N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615209	NM_006342.3(TACC3):c.1180C>A (p.Pro394Thr)	TACC3 (P394T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607804	NM_006342.3(TACC3):c.1346C>T (p.Ala449Val)	TACC3 (A449V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604692	NM_006342.3(TACC3):c.481C>G (p.Pro161Ala)	TACC3 (P161A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603231	NM_006342.3(TACC3):c.1427A>C (p.Gln476Pro)	TACC3 (Q116P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598447	NM_006342.3(TACC3):c.1291C>G (p.Pro431Ala)	TACC3 (P431A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594184	NM_006342.3(TACC3):c.1834C>G (p.Pro612Ala)	TACC3 (P252A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	PPP2R2C, PROM1 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2557494	NM_006342.3(TACC3):c.2260C>G (p.Leu754Val)	TACC3 (L754V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553554	NM_006342.3(TACC3):c.313C>G (p.Leu105Val)	TACC3 (L105V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549906	NM_006342.3(TACC3):c.1982G>A (p.Arg661Lys)	TACC3 (R301K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548217	NM_006342.3(TACC3):c.1457G>C (p.Ser486Thr)	TACC3 (S486T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540492	NM_006342.3(TACC3):c.710G>C (p.Arg237Pro)	TACC3 (R237P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532407	NM_006342.3(TACC3):c.1606G>A (p.Ala536Thr)	TACC3 (A176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522533	NM_006342.3(TACC3):c.2372C>T (p.Ala791Val)	TACC3 (A431V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513259	NM_006342.3(TACC3):c.1756G>A (p.Gly586Ser)	TACC3 (G226S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507628	NM_006342.3(TACC3):c.184C>T (p.Arg62Trp)	TACC3 (R62W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482032	NM_006342.3(TACC3):c.2510A>G (p.Lys837Arg)	TACC3 (K477R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464548	NM_006342.3(TACC3):c.1786C>T (p.Arg596Trp)	TACC3 (R596W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	GRK4, HAUS3 +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2422458	NC_000004.11:g.(?_493125)_(1843544_?)del	FAM53A, MAEA +25 more	Deletion	not provided	GUncertain significance
Select item 2407104	NM_006342.3(TACC3):c.751C>A (p.Pro251Thr)	TACC3 (P251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402014	NM_006342.3(TACC3):c.992C>G (p.Ser331Trp)	TACC3 (S331W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395774	NM_006342.3(TACC3):c.878G>T (p.Cys293Phe)	TACC3 (C293F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390640	NM_006342.3(TACC3):c.2095G>A (p.Ala699Thr)	TACC3 (A699T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389817	NM_006342.3(TACC3):c.109C>G (p.Arg37Gly)	TACC3 (R37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378548	NM_006342.3(TACC3):c.1877C>T (p.Pro626Leu)	TACC3 (P626L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374652	NM_006342.3(TACC3):c.2395A>G (p.Ser799Gly)	TACC3 (S439G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354418	NM_006342.3(TACC3):c.758G>T (p.Gly253Val)	TACC3 (G253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353130	NM_006342.3(TACC3):c.1729G>A (p.Val577Met)	TACC3 (V577M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352655	NM_006342.3(TACC3):c.233T>C (p.Leu78Pro)	TACC3 (L78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347859	NM_006342.3(TACC3):c.157A>G (p.Met53Val)	TACC3 (M53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347598	NM_006342.3(TACC3):c.686C>T (p.Pro229Leu)	TACC3 (P229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322247	NM_006342.3(TACC3):c.654C>G (p.His218Gln)	TACC3 (H218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317335	NM_006342.3(TACC3):c.1141G>A (p.Val381Met)	TACC3 (V381M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307654	NM_006342.3(TACC3):c.561T>A (p.Ser187Arg)	TACC3 (S187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304833	NM_006342.3(TACC3):c.518A>G (p.Lys173Arg)	TACC3 (K173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303299	NM_006342.3(TACC3):c.1668G>C (p.Lys556Asn)	TACC3 (K196N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295413	NM_006342.3(TACC3):c.1847C>A (p.Pro616Gln)	TACC3 (P256Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292465	NM_006342.3(TACC3):c.2182C>T (p.Arg728Cys)	TACC3 (R728C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273260	NM_006342.3(TACC3):c.1231G>A (p.Asp411Asn)	TACC3 (D411N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265677	NM_006342.3(TACC3):c.1769C>T (p.Thr590Ile)	TACC3 (T230I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263858	NM_006342.3(TACC3):c.989C>T (p.Ser330Phe)	TACC3 (S330F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252660	NM_006342.3(TACC3):c.1996C>T (p.His666Tyr)	TACC3 (H666Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238239	NM_006342.3(TACC3):c.74C>T (p.Ser25Leu)	TACC3 (S25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211803	NM_006342.3(TACC3):c.1601C>T (p.Thr534Met)	TACC3 (T174M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206027	NM_006342.3(TACC3):c.850C>T (p.Pro284Ser)	TACC3 (P284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808616	GRCh37/hg19 4p16.3(chr4:963688-2913553)x3	ADD1, C4orf48 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808489	GRCh37/hg19 4p16.3(chr4:1734046-1871531)x1	FGFR3, LETM1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808173	GRCh37/hg19 4p16.3(chr4:1180181-2009278)x3	CRIPAK, CTBP1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807847	GRCh37/hg19 4p16.3(chr4:68346-2437290)x1	ATP5ME, C4orf48 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic

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