8672[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59925	GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	CAMK2N1, CDA +28 more	Copy number loss	See cases	GPathogenic
Select item 3088071	NM_001391906.1(EIF4G3):c.4919A>G (p.Asp1640Gly)	EIF4G3 (D1546G +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638442	NM_001391906.1(EIF4G3):c.4902A>G (p.Ala1634=)	EIF4G3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385964	NM_001391906.1(EIF4G3):c.4855G>A (p.Val1619Met)	EIF4G3 (V1514M +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273316	NM_001391906.1(EIF4G3):c.4754G>A (p.Arg1585Gln)	EIF4G3 (R1480Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354365	NM_001391906.1(EIF4G3):c.4672T>G (p.Ser1558Ala)	EIF4G3 (S1508A +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 221374	GRCh38/hg38 1p36.12(chr1:20810811-20829210)x0	EIF4G3	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2260992	NM_001391906.1(EIF4G3):c.4627G>A (p.Ala1543Thr)	EIF4G3 (A1535T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088069	NM_001391906.1(EIF4G3):c.4598C>G (p.Ala1533Gly)	EIF4G3 (A1476G +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275071	NM_001391906.1(EIF4G3):c.4546C>T (p.Pro1516Ser)	EIF4G3 (P1459S +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250528	NM_001391906.1(EIF4G3):c.4458C>T (p.Leu1486=)	EIF4G3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602871	NM_001391906.1(EIF4G3):c.4450A>G (p.Lys1484Glu)	EIF4G3 (K1428E +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261503	NM_001391906.1(EIF4G3):c.4423A>G (p.Lys1475Glu)	EIF4G3 (K1430E +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088068	NM_001391906.1(EIF4G3):c.4397C>T (p.Pro1466Leu)	EIF4G3 (P1361L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229586	NM_001391906.1(EIF4G3):c.4390G>C (p.Asp1464His)	EIF4G3 (D1407H +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408937	NM_001391906.1(EIF4G3):c.4388C>G (p.Ser1463Cys)	EIF4G3 (S1418C +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203867	NM_001391906.1(EIF4G3):c.4387T>G (p.Ser1463Ala)	EIF4G3 (S1407A +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538417	NM_001391906.1(EIF4G3):c.4383A>G (p.Ile1461Met)	EIF4G3 (I1412M +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480624	NM_001391906.1(EIF4G3):c.4234C>A (p.Leu1412Ile)	EIF4G3 (L1356I +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088067	NM_001391906.1(EIF4G3):c.4154A>G (p.Lys1385Arg)	EIF4G3 (K1280R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786717	NM_001391906.1(EIF4G3):c.4148T>C (p.Met1383Thr)	EIF4G3 (M1327T +10 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2590731	NM_001391906.1(EIF4G3):c.3976A>C (p.Ser1326Arg)	EIF4G3 (S1269R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088066	NM_001391906.1(EIF4G3):c.3872A>C (p.His1291Pro)	EIF4G3 (H1234P +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383491	NM_001391906.1(EIF4G3):c.3841A>G (p.Lys1281Glu)	EIF4G3 (K1225E +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220193	NM_001391906.1(EIF4G3):c.3828G>T (p.Glu1276Asp)	EIF4G3 (E1219D +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088065	NM_001391906.1(EIF4G3):c.3683A>G (p.Glu1228Gly)	EIF4G3 (E1172G +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088064	NM_001391906.1(EIF4G3):c.3677G>A (p.Arg1226Gln)	EIF4G3 (R1121Q +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308023	NM_001391906.1(EIF4G3):c.3654C>G (p.Asp1218Glu)	EIF4G3 (D1161E +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275067	NM_001391906.1(EIF4G3):c.3607C>T (p.Arg1203Trp)	EIF4G3 (R1154W +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088062	NM_001391906.1(EIF4G3):c.3515C>T (p.Thr1172Met)	EIF4G3 (T1067M +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271030	NM_001391906.1(EIF4G3):c.3478C>G (p.Leu1160Val)	EIF4G3 (L1103V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088061	NM_001391906.1(EIF4G3):c.3280G>C (p.Val1094Leu)	EIF4G3 (V1045L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275070	NM_001391906.1(EIF4G3):c.3220A>G (p.Met1074Val)	EIF4G3 (M1104V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088060	NM_001391906.1(EIF4G3):c.3005A>C (p.Lys1002Thr)	EIF4G3 (K982T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623310	NM_001391906.1(EIF4G3):c.2944C>G (p.Leu982Val)	EIF4G3 (L962V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049284	NM_001391906.1(EIF4G3):c.2827C>T (p.Arg943Trp)	EIF4G3 (R887W +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161563	NM_001391906.1(EIF4G3):c.2710G>T (p.Asp904Tyr)	EIF4G3 (D884Y +10 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2287776	NM_001391906.1(EIF4G3):c.2638G>A (p.Ala880Thr)	EIF4G3 (A830T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088059	NM_001391906.1(EIF4G3):c.2609G>A (p.Arg870Gln)	EIF4G3 (R814Q +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264832	NM_001391906.1(EIF4G3):c.2253+894T>C	EIF4G3 (L780P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088058	NM_001391906.1(EIF4G3):c.2253+885G>A	EIF4G3 (S728N +2 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2221556	NM_001391906.1(EIF4G3):c.2253+869C>T	EIF4G3 (H722Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512700	NM_001391906.1(EIF4G3):c.2253+863A>T	EIF4G3 (M721L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529626	NM_001391906.1(EIF4G3):c.2253+860G>A	EIF4G3 (V719M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088057	NM_001391906.1(EIF4G3):c.2253+798T>C	EIF4G3 (V699A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344664	NM_001391906.1(EIF4G3):c.2251C>T (p.Pro751Ser)	EIF4G3 (P646S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088056	NM_001391906.1(EIF4G3):c.2186G>A (p.Arg729Gln)	EIF4G3 (R673Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459318	NM_001391906.1(EIF4G3):c.2174G>A (p.Arg725Gln)	EIF4G3 (R620Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088055	NM_001391906.1(EIF4G3):c.2155A>T (p.Met719Leu)	EIF4G3 (M662L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401472	NM_001391906.1(EIF4G3):c.2136C>G (p.Ile712Met)	EIF4G3 (I693M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380076	NM_001391906.1(EIF4G3):c.2114G>A (p.Ser705Asn)	EIF4G3 (S600N +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088054	NM_001391906.1(EIF4G3):c.1943C>G (p.Ala648Gly)	EIF4G3 (A592G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487952	NM_001391906.1(EIF4G3):c.1934G>A (p.Gly645Glu)	EIF4G3 (G588E +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346097	NM_001391906.1(EIF4G3):c.1858G>C (p.Val620Leu)	EIF4G3 (V570L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088053	NM_001391906.1(EIF4G3):c.1843T>C (p.Ser615Pro)	EIF4G3 (S510P +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088052	NM_001391906.1(EIF4G3):c.1818G>C (p.Gln606His)	EIF4G3 (Q549H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404212	NM_001391906.1(EIF4G3):c.1787T>C (p.Val596Ala)	EIF4G3 (V551A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275069	NM_001391906.1(EIF4G3):c.1711C>T (p.Arg571Trp)	EIF4G3 (R466W +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283333	NM_001391906.1(EIF4G3):c.1703C>T (p.Pro568Leu)	EIF4G3 (P463L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275072	NM_001391906.1(EIF4G3):c.1685C>G (p.Pro562Arg)	EIF4G3 (P505R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088051	NM_001391906.1(EIF4G3):c.1601A>C (p.Asp534Ala)	EIF4G3 (D484A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462421	NM_001391906.1(EIF4G3):c.1600G>T (p.Asp534Tyr)	EIF4G3 (D477Y +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349362	NM_001391906.1(EIF4G3):c.1597G>A (p.Ala533Thr)	EIF4G3 (A483T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481031	NM_001391906.1(EIF4G3):c.1493C>T (p.Pro498Leu)	EIF4G3 (P448L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589341	NM_001391906.1(EIF4G3):c.1481C>G (p.Thr494Ser)	EIF4G3 (T449S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297165	NM_001391906.1(EIF4G3):c.1388C>T (p.Thr463Ile)	EIF4G3 (T414I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371984	NM_001391906.1(EIF4G3):c.1348C>G (p.Pro450Ala)	EIF4G3 (P400A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542509	NM_001391906.1(EIF4G3):c.1328T>C (p.Leu443Ser)	EIF4G3 (L338S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088050	NM_001391906.1(EIF4G3):c.1253T>A (p.Val418Asp)	EIF4G3 (V418D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398990	NM_001391906.1(EIF4G3):c.1237A>C (p.Asn413His)	EIF4G3 (N364H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260529	NM_001391906.1(EIF4G3):c.1193T>C (p.Val398Ala)	EIF4G3 (V293A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088073	NM_001391906.1(EIF4G3):c.1162G>A (p.Asp388Asn)	EIF4G3 (D331N +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463598	NM_001391906.1(EIF4G3):c.1099A>G (p.Ile367Val)	EIF4G3 (I359V +9 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333949	NM_001391906.1(EIF4G3):c.1063G>A (p.Asp355Asn)	EIF4G3 (D305N +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088072	NM_001391906.1(EIF4G3):c.1057A>G (p.Ile353Val)	EIF4G3 (I346V +9 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338232	NM_001391906.1(EIF4G3):c.1022C>T (p.Ser341Phe)	EIF4G3 (S236F +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638443	NM_001391906.1(EIF4G3):c.937G>A (p.Val313Ile)	EIF4G3 (V208I +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2340533	NM_001391906.1(EIF4G3):c.782C>G (p.Ala261Gly)	EIF4G3 (A205G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275074	NM_001391906.1(EIF4G3):c.736G>C (p.Glu246Gln)	EIF4G3 (E190Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568971	NM_001391906.1(EIF4G3):c.563C>T (p.Pro188Leu)	EIF4G3 (P132L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210389	NM_001391906.1(EIF4G3):c.556C>A (p.Gln186Lys)	EIF4G3 (Q137K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403099	NM_001391906.1(EIF4G3):c.551C>T (p.Thr184Met)	EIF4G3 (T128M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088063	NM_001391906.1(EIF4G3):c.518C>T (p.Pro173Leu)	EIF4G3 (P117L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275068	NM_001391906.1(EIF4G3):c.469C>T (p.Pro157Ser)	EIF4G3 (P108S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264914	NM_001391906.1(EIF4G3):c.424C>G (p.Pro142Ala)	EIF4G3 (P142A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212721	NM_001391906.1(EIF4G3):c.410C>T (p.Pro137Leu)	EIF4G3 (P137L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459654	NM_001391906.1(EIF4G3):c.398C>T (p.Pro133Leu)	EIF4G3 (P115L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282323	NM_001391906.1(EIF4G3):c.281C>T (p.Pro94Leu)	EIF4G3 (P94L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616814	NM_001391906.1(EIF4G3):c.280C>T (p.Pro94Ser)	EIF4G3 (P38S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354331	NM_001391906.1(EIF4G3):c.242C>T (p.Pro81Leu)	EIF4G3 (P25L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344867	NM_001391906.1(EIF4G3):c.29C>T (p.Pro10Leu)	EIF4G3 (P10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638444	NM_001391906.1(EIF4G3):c.-361GGC[7]	EIF4G3	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance

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