ClinVar for Gene (Select 8661) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274988	NM_003750.4(EIF3A):c.1379C>A (p.Pro460His)	EIF3A (P460H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274987	NM_003750.4(EIF3A):c.2518G>A (p.Glu840Lys)	EIF3A (E840K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274986	NM_003750.4(EIF3A):c.1270T>A (p.Leu424Met)	EIF3A (L424M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274985	NM_003750.4(EIF3A):c.1269A>T (p.Glu423Asp)	EIF3A (E423D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274984	NM_003750.4(EIF3A):c.3817C>G (p.Arg1273Gly)	EIF3A (R1273G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274983	NM_003750.4(EIF3A):c.1361G>A (p.Arg454His)	EIF3A (R454H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274981	NM_003750.4(EIF3A):c.2992C>T (p.Pro998Ser)	EIF3A (P998S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274980	NM_003750.4(EIF3A):c.2816G>A (p.Arg939His)	EIF3A (R939H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274979	NM_003750.4(EIF3A):c.1312C>T (p.Arg438Cys)	EIF3A (R438C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274978	NM_003750.4(EIF3A):c.3478C>T (p.Arg1160Trp)	EIF3A (R1160W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087935	NM_003750.4(EIF3A):c.695C>G (p.Thr232Ser)	EIF3A (T232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087934	NM_003750.4(EIF3A):c.656A>G (p.Asn219Ser)	EIF3A (N219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087933	NM_003750.4(EIF3A):c.542C>G (p.Ala181Gly)	EIF3A (A181G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087932	NM_003750.4(EIF3A):c.4099C>T (p.Arg1367Cys)	EIF3A (R1367C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087931	NM_003750.4(EIF3A):c.4034G>A (p.Arg1345Gln)	EIF3A (R1345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087930	NM_003750.4(EIF3A):c.3904T>C (p.Ser1302Pro)	EIF3A (S1302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087929	NM_003750.4(EIF3A):c.3873C>A (p.Asp1291Glu)	EIF3A (D1291E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087928	NM_003750.4(EIF3A):c.3289C>T (p.Arg1097Trp)	EIF3A (R1097W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087927	NM_003750.4(EIF3A):c.3279G>C (p.Met1093Ile)	EIF3A (M1093I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087926	NM_003750.4(EIF3A):c.3199C>T (p.Arg1067Trp)	EIF3A (R1067W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087925	NM_003750.4(EIF3A):c.2931C>G (p.Phe977Leu)	EIF3A (F977L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087924	NM_003750.4(EIF3A):c.2905A>G (p.Arg969Gly)	EIF3A (R969G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087923	NM_003750.4(EIF3A):c.2860G>A (p.Asp954Asn)	EIF3A (D954N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087922	NM_003750.4(EIF3A):c.2780A>G (p.Asp927Gly)	EIF3A (D927G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087921	NM_003750.4(EIF3A):c.2520G>C (p.Glu840Asp)	EIF3A (E840D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087920	NM_003750.4(EIF3A):c.2476C>T (p.Arg826Trp)	EIF3A (R826W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087919	NM_003750.4(EIF3A):c.2288G>A (p.Arg763Gln)	EIF3A (R763Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087918	NM_003750.4(EIF3A):c.2222A>C (p.Glu741Ala)	EIF3A (E741A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087917	NM_003750.4(EIF3A):c.2090A>G (p.Tyr697Cys)	EIF3A (Y697C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087916	NM_003750.4(EIF3A):c.2083A>G (p.Ile695Val)	EIF3A (I695V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087914	NM_003750.4(EIF3A):c.1699C>T (p.Arg567Trp)	EIF3A (R567W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087913	NM_003750.4(EIF3A):c.1405C>T (p.Arg469Trp)	EIF3A (R469W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087912	NM_003750.4(EIF3A):c.1058G>A (p.Arg353His)	EIF3A (R353H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2617940	NM_003750.4(EIF3A):c.3371A>G (p.Asp1124Gly)	EIF3A (D1124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617652	NM_003750.4(EIF3A):c.3205C>T (p.Pro1069Ser)	EIF3A (P1069S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615068	NM_003750.4(EIF3A):c.3874G>A (p.Asp1292Asn)	EIF3A (D1292N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612870	NM_003750.4(EIF3A):c.1358C>G (p.Ser453Cys)	EIF3A (S453C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598303	NM_003750.4(EIF3A):c.3713G>A (p.Arg1238His)	EIF3A (R1238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589844	NM_003750.4(EIF3A):c.3601C>T (p.Arg1201Cys)	EIF3A (R1201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2570299	NM_003750.4(EIF3A):c.1239G>C (p.Trp413Cys)	EIF3A (W413C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556488	NM_003750.4(EIF3A):c.8C>T (p.Ala3Val)	EIF3A, LOC111875829 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552482	NM_003750.4(EIF3A):c.3378C>G (p.Asp1126Glu)	EIF3A (D1126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549744	NM_003750.4(EIF3A):c.3439C>T (p.Arg1147Cys)	EIF3A (R1147C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543572	NM_003750.4(EIF3A):c.3847C>G (p.Leu1283Val)	EIF3A (L1283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529422	NM_003750.4(EIF3A):c.3763G>C (p.Glu1255Gln)	EIF3A (E1255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529255	NM_003750.4(EIF3A):c.3023A>G (p.Asn1008Ser)	EIF3A (N1008S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494931	NM_003750.4(EIF3A):c.3559G>A (p.Glu1187Lys)	EIF3A (E1187K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493835	NM_003750.4(EIF3A):c.3602G>A (p.Arg1201His)	EIF3A (R1201H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493834	NM_003750.4(EIF3A):c.3488A>G (p.Asp1163Gly)	EIF3A (D1163G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485170	NM_003750.4(EIF3A):c.4028G>A (p.Arg1343Gln)	EIF3A (R1343Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475305	NM_003750.4(EIF3A):c.4060G>T (p.Ala1354Ser)	EIF3A (A1354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466375	NM_003750.4(EIF3A):c.652A>G (p.Ile218Val)	EIF3A (I218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462359	NM_003750.4(EIF3A):c.3272G>A (p.Arg1091Gln)	EIF3A (R1091Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411571	NM_003750.4(EIF3A):c.3028C>T (p.Arg1010Cys)	EIF3A (R1010C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400790	NM_003750.4(EIF3A):c.4097G>A (p.Arg1366His)	EIF3A (R1366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359221	NM_003750.4(EIF3A):c.3784T>G (p.Ser1262Ala)	EIF3A (S1262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340946	NM_003750.4(EIF3A):c.3512C>T (p.Pro1171Leu)	EIF3A (P1171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335693	NM_003750.4(EIF3A):c.3249G>A (p.Met1083Ile)	EIF3A (M1083I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326257	NM_003750.4(EIF3A):c.2492G>A (p.Arg831His)	EIF3A (R831H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307713	NM_003750.4(EIF3A):c.4091C>T (p.Ser1364Phe)	EIF3A (S1364F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300797	NM_003750.4(EIF3A):c.2917G>C (p.Glu973Gln)	EIF3A (E973Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287486	NM_003750.4(EIF3A):c.3256G>C (p.Asp1086His)	EIF3A (D1086H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275535	NM_003750.4(EIF3A):c.3830G>A (p.Arg1277Lys)	EIF3A (R1277K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255625	NM_003750.4(EIF3A):c.508G>A (p.Val170Ile)	EIF3A (V170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232363	NM_003750.4(EIF3A):c.515G>A (p.Arg172His)	EIF3A (R172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230655	NM_003750.4(EIF3A):c.3263G>T (p.Gly1088Val)	EIF3A (G1088V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210189	NM_003750.4(EIF3A):c.3791G>A (p.Arg1264His)	EIF3A (R1264H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209123	NM_003750.4(EIF3A):c.3068A>G (p.Asp1023Gly)	EIF3A (D1023G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527607	GRCh37/hg19 10q26.11-26.13(chr10:120782191-123155522)	BAG3, DENND10 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 784212	NM_003750.4(EIF3A):c.2979T>A (p.Asp993Glu)	EIF3A (D993E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779936	NM_003750.4(EIF3A):c.2408G>A (p.Arg803Lys)	EIF3A (R803K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768397	NM_003750.4(EIF3A):c.4074T>A (p.Ala1358=)	EIF3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738352	NM_003750.4(EIF3A):c.3369C>T (p.Ala1123=)	EIF3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737391	NM_003750.4(EIF3A):c.1164A>G (p.Lys388=)	EIF3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732866	NM_003750.4(EIF3A):c.1137A>G (p.Val379=)	EIF3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724496	NM_003750.4(EIF3A):c.219G>A (p.Gln73=)	EIF3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721635	NM_003750.4(EIF3A):c.3679A>C (p.Arg1227=)	EIF3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719358	NM_003750.4(EIF3A):c.2415A>G (p.Thr805=)	EIF3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717980	NM_003750.4(EIF3A):c.3124A>T (p.Met1042Leu)	EIF3A (M1042L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716165	NM_003750.4(EIF3A):c.1216C>A (p.Arg406=)	EIF3A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 716125	NM_003750.4(EIF3A):c.3136C>T (p.Arg1046Trp)	EIF3A (R1046W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714490	NM_003750.4(EIF3A):c.378-8C>G	EIF3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713491	NM_003750.4(EIF3A):c.237A>G (p.Gln79=)	EIF3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711130	NM_003750.4(EIF3A):c.2875C>T (p.Arg959Trp)	EIF3A (R959W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 685600	GRCh37/hg19 10q26.11(chr10:120583488-121118862)x3	DENND10, EIF3A +4 more	Copy number gain	not provided	GUncertain significance
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic

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