ClinVar for Gene (Select 126353) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126765	NM_173481.4(MISP):c.986C>T (p.Pro329Leu)	MISP (P329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126764	NM_173481.4(MISP):c.964C>G (p.Leu322Val)	MISP (L322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126763	NM_173481.4(MISP):c.947C>T (p.Ala316Val)	MISP (A316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126762	NM_173481.4(MISP):c.907C>T (p.Arg303Cys)	MISP (R303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126761	NM_173481.4(MISP):c.854C>T (p.Pro285Leu)	MISP (P285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126760	NM_173481.4(MISP):c.7C>T (p.Arg3Cys)	MISP (R3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126759	NM_173481.4(MISP):c.799T>A (p.Trp267Arg)	MISP (W267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126758	NM_173481.4(MISP):c.724G>A (p.Gly242Arg)	MISP (G242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126757	NM_173481.4(MISP):c.718G>C (p.Ala240Pro)	MISP (A240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126755	NM_173481.4(MISP):c.574G>A (p.Asp192Asn)	MISP (D192N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126754	NM_173481.4(MISP):c.569A>G (p.Gln190Arg)	MISP (Q190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126753	NM_173481.4(MISP):c.520G>A (p.Gly174Ser)	MISP (G174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126752	NM_173481.4(MISP):c.479C>T (p.Thr160Met)	MISP (T160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126750	NM_173481.4(MISP):c.374G>T (p.Arg125Leu)	MISP (R125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126749	NM_173481.4(MISP):c.313G>A (p.Gly105Arg)	MISP (G105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126748	NM_173481.4(MISP):c.2020G>A (p.Ala674Thr)	MISP (A674T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126747	NM_173481.4(MISP):c.1943A>T (p.Asn648Ile)	MISP (N648I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126746	NM_173481.4(MISP):c.1943A>G (p.Asn648Ser)	MISP (N648S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126745	NM_173481.4(MISP):c.1915G>A (p.Ala639Thr)	MISP (A639T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126744	NM_173481.4(MISP):c.1723T>C (p.Ser575Pro)	MISP (S575P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126743	NM_173481.4(MISP):c.1611G>T (p.Arg537Ser)	MISP (R537S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126742	NM_173481.4(MISP):c.1514G>A (p.Arg505His)	MISP (R505H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126741	NM_173481.4(MISP):c.1373C>T (p.Ala458Val)	MISP (A458V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126740	NM_173481.4(MISP):c.1324G>A (p.Gly442Arg)	MISP (G442R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126739	NM_173481.4(MISP):c.1256G>A (p.Arg419His)	MISP (R419H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126738	NM_173481.4(MISP):c.1220C>T (p.Ala407Val)	MISP (A407V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126737	NM_173481.4(MISP):c.1135G>A (p.Asp379Asn)	MISP (D379N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126736	NM_173481.4(MISP):c.1051G>A (p.Val351Met)	MISP (V351M)	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	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2681404	NM_173481.4(MISP):c.908G>A (p.Arg303His)	MISP (R303H)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2648866	NM_173481.4(MISP):c.1002G>A (p.Leu334=)	MISP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598579	NM_173481.4(MISP):c.1162G>A (p.Gly388Arg)	MISP (G388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595039	NM_173481.4(MISP):c.1513C>T (p.Arg505Cys)	MISP (R505C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590431	NM_173481.4(MISP):c.1730C>G (p.Thr577Arg)	MISP (T577R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588713	NM_173481.4(MISP):c.1783A>C (p.Ile595Leu)	MISP (I595L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540420	NM_173481.4(MISP):c.68T>C (p.Leu23Pro)	MISP (L23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523887	NM_173481.4(MISP):c.1682T>C (p.Val561Ala)	MISP (V561A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522946	NM_173481.4(MISP):c.653G>T (p.Gly218Val)	MISP (G218V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518426	NM_173481.4(MISP):c.883C>T (p.Arg295Trp)	MISP (R295W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518182	NM_173481.4(MISP):c.569A>C (p.Gln190Pro)	MISP (Q190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514309	NM_173481.4(MISP):c.334C>T (p.Arg112Cys)	MISP (R112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514199	NM_173481.4(MISP):c.730G>A (p.Val244Met)	MISP (V244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512558	NM_173481.4(MISP):c.1358C>T (p.Ala453Val)	MISP (A453V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512253	NM_173481.4(MISP):c.673C>T (p.Pro225Ser)	MISP (P225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508941	NM_173481.4(MISP):c.440T>A (p.Ile147Asn)	MISP (I147N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508167	NM_173481.4(MISP):c.1168C>T (p.Arg390Trp)	MISP (R390W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495951	NM_173481.4(MISP):c.1280C>A (p.Pro427Gln)	MISP (P427Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479978	NM_173481.4(MISP):c.1816T>C (p.Phe606Leu)	MISP (F606L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2467601	NM_173481.4(MISP):c.1621T>C (p.Ser541Pro)	MISP (S541P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464498	NM_173481.4(MISP):c.1169G>A (p.Arg390Gln)	MISP (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460009	NM_173481.4(MISP):c.1666C>T (p.Arg556Cys)	MISP (R556C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459548	NM_173481.4(MISP):c.1529G>A (p.Arg510Gln)	MISP (R510Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ARID3A, ARRDC5 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +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 2409580	NM_173481.4(MISP):c.884G>A (p.Arg295Gln)	MISP (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406939	NM_173481.4(MISP):c.1228C>T (p.Pro410Ser)	MISP (P410S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403944	NM_173481.4(MISP):c.1520G>T (p.Arg507Leu)	MISP (R507L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398952	NM_173481.4(MISP):c.1121G>A (p.Arg374Gln)	MISP (R374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377595	NM_173481.4(MISP):c.181G>A (p.Val61Met)	MISP (V61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377252	NM_173481.4(MISP):c.1888G>A (p.Gly630Arg)	MISP (G630R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359241	NM_173481.4(MISP):c.242G>A (p.Gly81Glu)	MISP (G81E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356120	NM_173481.4(MISP):c.757G>A (p.Gly253Arg)	MISP (G253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355921	NM_173481.4(MISP):c.1120C>T (p.Arg374Trp)	MISP (R374W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354017	NM_173481.4(MISP):c.1549C>T (p.Pro517Ser)	MISP (P517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350585	NM_173481.4(MISP):c.1621T>A (p.Ser541Thr)	MISP (S541T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348376	NM_173481.4(MISP):c.427C>T (p.Arg143Cys)	MISP (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333676	NM_173481.4(MISP):c.1466G>A (p.Arg489Gln)	MISP (R489Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332559	NM_173481.4(MISP):c.208G>A (p.Val70Met)	MISP (V70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330591	NM_173481.4(MISP):c.1481C>T (p.Ala494Val)	MISP (A494V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326735	NM_173481.4(MISP):c.1216C>T (p.Arg406Cys)	MISP (R406C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324667	NM_173481.4(MISP):c.1520G>A (p.Arg507His)	MISP (R507H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320213	NM_173481.4(MISP):c.906G>C (p.Glu302Asp)	MISP (E302D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319297	NM_173481.4(MISP):c.283T>G (p.Tyr95Asp)	MISP (Y95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299616	NM_173481.4(MISP):c.598T>C (p.Phe200Leu)	MISP (F200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281646	NM_173481.4(MISP):c.421C>T (p.Arg141Trp)	MISP (R141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277462	NM_173481.4(MISP):c.530G>A (p.Arg177Gln)	MISP (R177Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270390	NM_173481.4(MISP):c.77A>G (p.Asp26Gly)	MISP (D26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268122	NM_173481.4(MISP):c.961G>C (p.Glu321Gln)	MISP (E321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267410	NM_173481.4(MISP):c.1787C>T (p.Thr596Met)	MISP (T596M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254440	NM_173481.4(MISP):c.106A>G (p.Met36Val)	MISP (M36V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2241280	NM_173481.4(MISP):c.1319C>A (p.Ala440Asp)	MISP (A440D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241278	NM_173481.4(MISP):c.1318G>A (p.Ala440Thr)	MISP (A440T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235150	NM_173481.4(MISP):c.1021C>T (p.Arg341Trp)	MISP (R341W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234598	NM_173481.4(MISP):c.279G>C (p.Gln93His)	MISP (Q93H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234142	NM_173481.4(MISP):c.422G>A (p.Arg141Gln)	MISP (R141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229657	NM_173481.4(MISP):c.181G>T (p.Val61Leu)	MISP (V61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217883	NM_173481.4(MISP):c.1907A>C (p.Gln636Pro)	MISP (Q636P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213925	NM_173481.4(MISP):c.839C>T (p.Ala280Val)	MISP (A280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208204	NM_173481.4(MISP):c.1931C>T (p.Ser644Leu)	MISP (S644L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ABCA7, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	AZU1, CFD +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 779178	NM_173481.4(MISP):c.375C>T (p.Arg125=)	MISP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777341	NM_173481.4(MISP):c.537G>A (p.Thr179=)	MISP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777340	NM_173481.4(MISP):c.408G>A (p.Leu136=)	MISP	Single nucleotide variant (synonymous variant)	not provided	GBenign

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