ClinVar for Gene (Select 10025) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294040	NM_005481.3(MED16):c.2009C>A (p.Pro670His)	MED16 (P670H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294039	NM_005481.3(MED16):c.1988G>T (p.Arg663Leu)	MED16 (R663L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294038	NM_005481.3(MED16):c.1144C>G (p.Leu382Val)	MED16 (L382V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294037	NM_005481.3(MED16):c.2498G>A (p.Arg833His)	MED16 (R833H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3294036	NM_005481.3(MED16):c.2455T>C (p.Trp819Arg)	MED16 (W819R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294035	NM_005481.3(MED16):c.1277G>T (p.Gly426Val)	MED16 (G426V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294034	NM_005481.3(MED16):c.1285G>A (p.Val429Ile)	MED16 (V429I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294031	NM_005481.3(MED16):c.782C>T (p.Pro261Leu)	MED16 (P261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294030	NM_005481.3(MED16):c.1855C>G (p.Gln619Glu)	MED16 (Q619E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294029	NM_005481.3(MED16):c.2515G>A (p.Val839Met)	MED16 (V839M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294028	NM_005481.3(MED16):c.1987C>T (p.Arg663Cys)	MED16 (R663C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124988	NM_005481.3(MED16):c.959A>T (p.Asn320Ile)	MED16 (N320I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124987	NM_005481.3(MED16):c.893C>T (p.Ala298Val)	MED16 (A298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124986	NM_005481.3(MED16):c.808G>A (p.Asp270Asn)	MED16 (D270N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124985	NM_005481.3(MED16):c.785C>G (p.Ser262Cys)	MED16 (S262C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124984	NM_005481.3(MED16):c.568G>A (p.Val190Met)	MED16 (V190M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124983	NM_005481.3(MED16):c.556G>A (p.Gly186Ser)	MED16 (G186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124982	NM_005481.3(MED16):c.2626C>T (p.Arg876Cys)	MED16 (R876C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124981	NM_005481.3(MED16):c.2551G>A (p.Val851Ile)	MED16 (V851I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124979	NM_005481.3(MED16):c.2260C>T (p.Arg754Trp)	MED16 (R754W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124978	NM_005481.3(MED16):c.2030C>G (p.Thr677Arg)	MED16 (T677R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124976	NM_005481.3(MED16):c.1781A>G (p.Lys594Arg)	MED16 (K594R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124975	NM_005481.3(MED16):c.1663G>A (p.Ala555Thr)	MED16 (A555T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124974	NM_005481.3(MED16):c.1612C>T (p.Pro538Ser)	MED16 (P538S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124973	NM_005481.3(MED16):c.1610C>T (p.Ser537Leu)	MED16 (S537L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124972	NM_005481.3(MED16):c.1574G>A (p.Arg525Gln)	MED16 (R525Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124971	NM_005481.3(MED16):c.1573C>T (p.Arg525Trp)	MED16 (R525W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124970	NM_005481.3(MED16):c.1492A>C (p.Ser498Arg)	MED16 (S498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124969	NM_005481.3(MED16):c.1484T>C (p.Val495Ala)	MED16 (V495A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124968	NM_005481.3(MED16):c.1414C>T (p.Arg472Trp)	MED16 (R472W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124967	NM_005481.3(MED16):c.1391C>T (p.Pro464Leu)	MED16 (P464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124965	NM_005481.3(MED16):c.1360G>A (p.Val454Met)	MED16 (V454M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124964	NM_005481.3(MED16):c.1324G>A (p.Ala442Thr)	MED16 (A442T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124963	NM_005481.3(MED16):c.1276G>A (p.Gly426Ser)	MED16 (G426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124962	NM_005481.3(MED16):c.1207G>C (p.Ala403Pro)	MED16 (A403P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124961	NM_005481.3(MED16):c.1148C>T (p.Ala383Val)	MED16 (A383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2648878	NM_005481.3(MED16):c.504C>G (p.Leu168=)	MED16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648877	NM_005481.3(MED16):c.513C>T (p.Phe171=)	MED16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648876	NM_005481.3(MED16):c.981C>T (p.Pro327=)	MED16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648875	NM_005481.3(MED16):c.1560+6G>T	MED16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2648874	NM_005481.3(MED16):c.1743C>T (p.Thr581=)	MED16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648873	NM_005481.3(MED16):c.1905+448C>T	MED16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648872	NM_005481.3(MED16):c.1905+449A>C	MED16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648871	NM_005481.3(MED16):c.1905+480_1905+497del	MED16	Deletion (intron variant)	not provided	GLikely benign
Select item 2619878	NM_005481.3(MED16):c.1668C>G (p.Ile556Met)	MED16 (I556M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617556	NM_005481.3(MED16):c.1279C>T (p.Pro427Ser)	MED16 (P427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615881	NM_005481.3(MED16):c.2606A>G (p.Asp869Gly)	MED16 (D869G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612183	NM_005481.3(MED16):c.2176A>G (p.Ile726Val)	MED16 (I726V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611639	NM_005481.3(MED16):c.1936C>G (p.Leu646Val)	MED16 (L646V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603007	NM_005481.3(MED16):c.1949C>T (p.Thr650Ile)	MED16 (T650I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593972	NM_005481.3(MED16):c.1366C>T (p.Arg456Cys)	MED16 (R456C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589406	NM_005481.3(MED16):c.2497C>T (p.Arg833Cys)	MED16 (R833C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558775	NM_005481.3(MED16):c.1952C>T (p.Ser651Leu)	MED16 (S651L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555785	NM_005481.3(MED16):c.2242C>T (p.Leu748Phe)	MED16 (L748F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519307	NM_005481.3(MED16):c.1673C>A (p.Ser558Tyr)	MED16 (S558Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513831	NM_005481.3(MED16):c.1676C>T (p.Thr559Ile)	MED16 (T559I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511659	NM_005481.3(MED16):c.2298G>T (p.Gln766His)	MED16 (Q766H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508980	NM_005481.3(MED16):c.1831C>G (p.Leu611Val)	MED16 (L611V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490686	NM_005481.3(MED16):c.1256T>C (p.Met419Thr)	MED16 (M419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485132	NM_005481.3(MED16):c.2133G>C (p.Glu711Asp)	MED16 (E711D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481584	NM_005481.3(MED16):c.2090G>C (p.Trp697Ser)	MED16 (W697S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479821	NM_005481.3(MED16):c.895T>A (p.Ser299Thr)	MED16 (S299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478443	NM_005481.3(MED16):c.1829C>T (p.Thr610Ile)	MED16 (T610I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477590	NM_005481.3(MED16):c.2354T>A (p.Leu785Gln)	MED16 (L785Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473364	NM_005481.3(MED16):c.908G>A (p.Ser303Asn)	MED16 (S303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466401	NM_005481.3(MED16):c.2288C>T (p.Ala763Val)	MED16 (A763V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459143	NM_005481.3(MED16):c.1267C>T (p.Arg423Cys)	MED16 (R423C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2410370	NM_005481.3(MED16):c.1774A>G (p.Ile592Val)	MED16 (I592V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409462	NM_005481.3(MED16):c.1585A>G (p.Met529Val)	MED16 (M529V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407481	NM_005481.3(MED16):c.2621A>T (p.Glu874Val)	MED16 (E874V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401787	NM_005481.3(MED16):c.2375C>T (p.Thr792Met)	MED16 (T792M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401527	NM_005481.3(MED16):c.164A>G (p.Asp55Gly)	MED16 (D55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400122	NM_005481.3(MED16):c.641C>T (p.Ala214Val)	MED16 (A214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391770	NM_005481.3(MED16):c.2581T>C (p.Ser861Pro)	MED16 (S861P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391030	NM_005481.3(MED16):c.1210G>A (p.Val404Ile)	MED16 (V404I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389831	NM_005481.3(MED16):c.2246G>A (p.Arg749His)	MED16 (R749H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389495	NM_005481.3(MED16):c.1273G>A (p.Ala425Thr)	MED16 (A425T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389173	NM_005481.3(MED16):c.1165G>A (p.Gly389Ser)	MED16 (G389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385677	NM_005481.3(MED16):c.2245C>T (p.Arg749Cys)	MED16 (R749C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383492	NM_005481.3(MED16):c.2242C>A (p.Leu748Ile)	MED16 (L748I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380362	NM_005481.3(MED16):c.2608C>T (p.His870Tyr)	MED16 (H870Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374151	NM_005481.3(MED16):c.548C>T (p.Thr183Met)	MED16 (T183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371602	NM_005481.3(MED16):c.2365G>A (p.Ala789Thr)	MED16 (A789T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371601	NM_005481.3(MED16):c.2102G>A (p.Arg701His)	MED16 (R701H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360993	NM_005481.3(MED16):c.1651C>G (p.Leu551Val)	MED16 (L551V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355997	NM_005481.3(MED16):c.178C>T (p.Arg60Cys)	MED16 (R60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353539	NM_005481.3(MED16):c.1979T>C (p.Val660Ala)	MED16 (V660A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349217	NM_005481.3(MED16):c.1525G>A (p.Glu509Lys)	MED16 (E509K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338329	NM_005481.3(MED16):c.2264C>T (p.Ala755Val)	MED16 (A755V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337918	NM_005481.3(MED16):c.1229C>A (p.Ala410Asp)	MED16 (A410D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333738	NM_005481.3(MED16):c.515G>C (p.Gly172Ala)	MED16 (G172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331877	NM_005481.3(MED16):c.2221C>A (p.Arg741Ser)	MED16 (R741S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320716	NM_005481.3(MED16):c.244G>A (p.Glu82Lys)	MED16 (E82K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316818	NM_005481.3(MED16):c.649G>A (p.Asp217Asn)	MED16 (D217N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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