TBL3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58604	GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3	FAHD1, GFER +40 more	Copy number gain	See cases	GPathogenic
Select item 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2278895	NM_006453.3(TBL3):c.13G>T (p.Ala5Ser)	LOC130058200, TBL3 (A5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174875	NM_006453.3(TBL3):c.97G>A (p.Asp33Asn)	TBL3 (D33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394159	NM_006453.3(TBL3):c.101A>G (p.Gln34Arg)	TBL3 (Q34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174841	NM_006453.3(TBL3):c.124G>A (p.Val42Ile)	TBL3 (V42I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308933	NM_006453.3(TBL3):c.212C>T (p.Ala71Val)	TBL3 (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326113	NM_006453.3(TBL3):c.227C>T (p.Pro76Leu)	TBL3 (P76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174861	NM_006453.3(TBL3):c.257G>A (p.Arg86Gln)	TBL3 (R86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786634	NM_006453.3(TBL3):c.258G>A (p.Arg86=)	TBL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2385273	NM_006453.3(TBL3):c.280G>A (p.Ala94Thr)	TBL3 (A94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174862	NM_006453.3(TBL3):c.296G>C (p.Ser99Thr)	TBL3 (S99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518832	NM_006453.3(TBL3):c.296G>T (p.Ser99Ile)	TBL3 (S99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174863	NM_006453.3(TBL3):c.316G>A (p.Ala106Thr)	TBL3 (A106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485062	NM_006453.3(TBL3):c.317C>T (p.Ala106Val)	TBL3 (A106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376579	NM_006453.3(TBL3):c.331C>T (p.Pro111Ser)	TBL3 (P111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598560	NM_006453.3(TBL3):c.334G>A (p.Val112Met)	TBL3 (V112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174864	NM_006453.3(TBL3):c.356C>T (p.Pro119Leu)	TBL3 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320273	NM_006453.3(TBL3):c.391G>A (p.Gly131Arg)	TBL3 (G131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209878	NM_006453.3(TBL3):c.400C>T (p.Arg134Cys)	TBL3 (R134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174865	NM_006453.3(TBL3):c.427G>A (p.Gly143Arg)	TBL3 (G143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402347	NM_006453.3(TBL3):c.449C>T (p.Ser150Leu)	TBL3 (S150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600434	NM_006453.3(TBL3):c.460G>C (p.Val154Leu)	TBL3 (V154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174866	NM_006453.3(TBL3):c.472G>A (p.Ala158Thr)	TBL3 (A158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710742	NM_006453.3(TBL3):c.483G>A (p.Pro161=)	TBL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2477615	NM_006453.3(TBL3):c.512C>T (p.Ser171Leu)	TBL3 (S171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387861	NM_006453.3(TBL3):c.514G>A (p.Ala172Thr)	TBL3 (A172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174867	NM_006453.3(TBL3):c.535G>C (p.Val179Leu)	TBL3 (V179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622471	NM_006453.3(TBL3):c.535G>A (p.Val179Met)	TBL3 (V179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474292	NM_006453.3(TBL3):c.552C>A (p.Asp184Glu)	TBL3 (D184E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369030	NM_006453.3(TBL3):c.619G>A (p.Gly207Ser)	TBL3 (G207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403937	NM_006453.3(TBL3):c.644G>A (p.Arg215His)	TBL3 (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379257	NM_006453.3(TBL3):c.701C>T (p.Pro234Leu)	TBL3 (P234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645957	NM_006453.3(TBL3):c.703G>A (p.Val235Met)	TBL3 (V235M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2217263	NM_006453.3(TBL3):c.715G>A (p.Val239Met)	TBL3 (V239M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174869	NM_006453.3(TBL3):c.721G>A (p.Ala241Thr)	TBL3 (A241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512654	NM_006453.3(TBL3):c.814C>T (p.Arg272Cys)	TBL3 (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174870	NM_006453.3(TBL3):c.823G>A (p.Glu275Lys)	TBL3 (E275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293573	NM_006453.3(TBL3):c.832T>C (p.Ser278Pro)	TBL3 (S278P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174871	NM_006453.3(TBL3):c.868G>A (p.Gly290Ser)	TBL3 (G290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309381	NM_006453.3(TBL3):c.874G>A (p.Gly292Arg)	TBL3 (G292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174873	NM_006453.3(TBL3):c.910G>A (p.Ala304Thr)	TBL3 (A304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460887	NM_006453.3(TBL3):c.913G>A (p.Gly305Ser)	TBL3 (G305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543178	NM_006453.3(TBL3):c.916G>A (p.Val306Met)	TBL3 (V306M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480605	NM_006453.3(TBL3):c.958G>A (p.Glu320Lys)	TBL3 (E320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174874	NM_006453.3(TBL3):c.960G>C (p.Glu320Asp)	TBL3 (E320D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356524	NM_006453.3(TBL3):c.991G>A (p.Ala331Thr)	TBL3 (A331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174836	NM_006453.3(TBL3):c.1009G>A (p.Val337Ile)	TBL3 (V337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472302	NM_006453.3(TBL3):c.1048G>A (p.Val350Ile)	TBL3 (V350I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645958	NM_006453.3(TBL3):c.1071C>T (p.Pro357=)	TBL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3174838	NM_006453.3(TBL3):c.1072T>C (p.Cys358Arg)	TBL3 (C358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396085	NM_006453.3(TBL3):c.1082T>C (p.Val361Ala)	TBL3 (V361A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314311	NM_006453.3(TBL3):c.1120G>A (p.Gly374Ser)	TBL3 (G374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523088	NM_006453.3(TBL3):c.1133T>C (p.Ile378Thr)	TBL3 (I378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174839	NM_006453.3(TBL3):c.1135G>A (p.Val379Ile)	TBL3 (V379I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174840	NM_006453.3(TBL3):c.1157G>A (p.Arg386Gln)	TBL3 (R386Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735152	NM_006453.3(TBL3):c.1254C>T (p.Ser418=)	TBL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3174842	NM_006453.3(TBL3):c.1264C>T (p.His422Tyr)	TBL3 (H422Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174843	NM_006453.3(TBL3):c.1279G>C (p.Val427Leu)	TBL3 (V427L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297047	NM_006453.3(TBL3):c.1331G>A (p.Cys444Tyr)	TBL3 (C444Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174844	NM_006453.3(TBL3):c.1370C>T (p.Ser457Phe)	TBL3 (S457F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174845	NM_006453.3(TBL3):c.1427G>A (p.Arg476His)	TBL3 (R476H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536917	NM_006453.3(TBL3):c.1457C>G (p.Ala486Gly)	TBL3 (A486G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210420	NM_006453.3(TBL3):c.1496A>G (p.Gln499Arg)	TBL3 (Q499R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174846	NM_006453.3(TBL3):c.1502G>A (p.Arg501His)	TBL3 (R501H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296924	NM_006453.3(TBL3):c.1504A>G (p.Thr502Ala)	TBL3 (T502A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395392	NM_006453.3(TBL3):c.1535A>G (p.Gln512Arg)	TBL3 (Q512R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516193	NM_006453.3(TBL3):c.1579G>A (p.Val527Ile)	TBL3 (V527I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645959	NM_006453.3(TBL3):c.1581C>T (p.Val527=)	TBL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3174847	NM_006453.3(TBL3):c.1594A>G (p.Met532Val)	TBL3 (M532V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174848	NM_006453.3(TBL3):c.1681G>C (p.Gly561Arg)	TBL3 (G561R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560055	NM_006453.3(TBL3):c.1687G>C (p.Asp563His)	TBL3 (D563H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174849	NM_006453.3(TBL3):c.1709C>T (p.Ala570Val)	TBL3 (A570V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716292	NM_006453.3(TBL3):c.1742+8G>C	TBL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2215895	NM_006453.3(TBL3):c.1807G>A (p.Ala603Thr)	TBL3 (A603T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521370	NM_006453.3(TBL3):c.1852G>A (p.Asp618Asn)	TBL3 (D618N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174850	NM_006453.3(TBL3):c.1858G>A (p.Ala620Thr)	TBL3 (A620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174851	NM_006453.3(TBL3):c.1901A>G (p.Asp634Gly)	TBL3 (D634G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174852	NM_006453.3(TBL3):c.1921G>A (p.Ala641Thr)	TBL3 (A641T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343603	NM_006453.3(TBL3):c.1994G>A (p.Arg665Gln)	TBL3 (R665Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174853	NM_006453.3(TBL3):c.2002C>T (p.Arg668Trp)	TBL3 (R668W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358716	NM_006453.3(TBL3):c.2044G>A (p.Val682Met)	TBL3 (V682M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209187	NM_006453.3(TBL3):c.2114G>A (p.Arg705Gln)	TBL3 (R705Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174854	NM_006453.3(TBL3):c.2140C>G (p.Leu714Val)	TBL3 (L714V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325559	NM_006453.3(TBL3):c.2147G>A (p.Arg716His)	TBL3 (R716H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308576	NM_006453.3(TBL3):c.2158A>C (p.Thr720Pro)	TBL3 (T720P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174855	NM_006453.3(TBL3):c.2165A>T (p.Asn722Ile)	TBL3 (N722I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569226	NM_006453.3(TBL3):c.2222G>A (p.Arg741Gln)	TBL3 (R741Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299278	NM_006453.3(TBL3):c.2228C>T (p.Ala743Val)	TBL3 (A743V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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