1956[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 545348	Single allele	CCT6A, CHCHD2 +95 more	Duplication	Autism	GLikely pathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	See cases	GPathogenic
Select item 59597	GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3	CCT6A, CHCHD2 +93 more	Copy number gain	See cases	GUncertain significance
Select item 155010	GRCh38/hg38 7p11.2(chr7:54585522-55139482)x4	EGFR, LOC120766156 +10 more	Copy number gain	See cases	GUncertain significance
Select item 151057	GRCh38/hg38 7p11.2(chr7:54585522-55139482)x3	EGFR, LOC120766156 +10 more	Copy number gain	See cases	GUncertain significance
Select item 59598	GRCh38/hg38 7p11.2(chr7:54724764-55037899)x3	EGFR, LOC120766156 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1195687	NC_000007.14:g.55018796C>A	EGFR	Single nucleotide variant	not provided	GLikely benign
Select item 1246877	NM_005228.5(EGFR):c.-216G>T	EGFR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1232163	NM_005228.5(EGFR):c.-191A>C	EGFR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 802311	NM_005228.5(EGFR):c.-106G>A	EGFR	Single nucleotide variant (5 prime UTR variant)	Lung carcinoma	GLikely benign
Select item 1365035	NM_005228.5(EGFR):c.5G>A (p.Arg2Gln)	EGFR (R2Q)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1352648	NM_005228.5(EGFR):c.7C>T (p.Pro3Ser)	EGFR (P3S)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1024328	NM_005228.5(EGFR):c.7C>G (p.Pro3Ala)	EGFR (P3A)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1017706	NM_005228.5(EGFR):c.8C>T (p.Pro3Leu)	EGFR (P3L)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2798350	NM_005228.5(EGFR):c.9C>T (p.Pro3=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1437627	NM_005228.5(EGFR):c.11C>T (p.Ser4Phe)	EGFR (S4F)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1377958	NM_005228.5(EGFR):c.11C>G (p.Ser4Cys)	EGFR (S4C)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 957645	NM_005228.5(EGFR):c.11C>A (p.Ser4Tyr)	EGFR (S4Y)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1115730	NM_005228.5(EGFR):c.12C>T (p.Ser4=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1477158	NM_005228.5(EGFR):c.13G>C (p.Gly5Arg)	EGFR (G5R)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1500085	NM_005228.5(EGFR):c.14G>A (p.Gly5Glu)	EGFR (G5E)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1063111	NM_005228.5(EGFR):c.14G>C (p.Gly5Ala)	EGFR (G5A)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2994781	NM_005228.5(EGFR):c.15G>C (p.Gly5=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 360452	NM_005228.5(EGFR):c.16A>G (p.Thr6Ala)	EGFR (T6A)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1135476	NM_005228.5(EGFR):c.18G>C (p.Thr6=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1089856	NM_005228.5(EGFR):c.18G>T (p.Thr6=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1058478	NM_005228.5(EGFR):c.18G>A (p.Thr6=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 847793	NM_005228.5(EGFR):c.19G>C (p.Ala7Pro)	EGFR (A7P)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +2 more	GUncertain significance
Select item 940838	NM_005228.5(EGFR):c.20C>A (p.Ala7Asp)	EGFR (A7D)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2097133	NM_005228.5(EGFR):c.21C>A (p.Ala7=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1130264	NM_005228.5(EGFR):c.21C>T (p.Ala7=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer +1 more	GLikely benign
Select item 1035958	NM_005228.5(EGFR):c.22G>C (p.Gly8Arg)	EGFR (G8R)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 858314	NM_005228.5(EGFR):c.22G>A (p.Gly8Arg)	EGFR (G8R)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3022603	NM_005228.5(EGFR):c.23G>A (p.Gly8Glu)	EGFR (G8E)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2073079	NM_005228.5(EGFR):c.24G>C (p.Gly8=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2900471	NM_005228.5(EGFR):c.25G>A (p.Ala9Thr)	EGFR (A9T)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2044514	NM_005228.5(EGFR):c.25G>T (p.Ala9Ser)	EGFR (A9S)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2726953	NM_005228.5(EGFR):c.34_54dup (p.Leu18_Cys19insLeuAlaLeuLeuAlaAlaLeu)	EGFR	Duplication (inframe_insertion)	EGFR-related lung cancer	GUncertain significance
Select item 1620741	NM_005228.5(EGFR):c.27A>C (p.Ala9=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2807954	NM_005228.5(EGFR):c.28G>A (p.Ala10Thr)	EGFR (A10T)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1471503	NM_005228.5(EGFR):c.34_54del (p.Leu12_Leu18del)	EGFR	Deletion (inframe_deletion)	EGFR-related lung cancer	GUncertain significance
Select item 1063097	NM_005228.5(EGFR):c.33_41del (p.11LLA[1])	EGFR	Deletion (inframe_deletion)	EGFR-related lung cancer	GUncertain significance
Select item 1441042	NM_005228.5(EGFR):c.29C>A (p.Ala10Glu)	EGFR (A10E)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 934408	NM_005228.5(EGFR):c.29C>G (p.Ala10Gly)	EGFR (A10G)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1141613	NM_005228.5(EGFR):c.30G>T (p.Ala10=)	EGFR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1365069	NM_005228.5(EGFR):c.31C>T (p.Leu11Phe)	EGFR (L11F)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GUncertain significance
Select item 1542958	NM_005228.5(EGFR):c.33C>T (p.Leu11=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1529959	NM_005228.5(EGFR):c.36G>A (p.Leu12=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 3004677	NM_005228.5(EGFR):c.37G>A (p.Ala13Thr)	EGFR (A13T)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2961764	NM_005228.5(EGFR):c.38C>A (p.Ala13Glu)	EGFR (A13E)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 858191	NM_005228.5(EGFR):c.38C>T (p.Ala13Val)	EGFR (A13V)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2189724	NM_005228.5(EGFR):c.39G>C (p.Ala13=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1541511	NM_005228.5(EGFR):c.39G>T (p.Ala13=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2716717	NM_005228.5(EGFR):c.45G>T (p.Leu15=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1117968	NM_005228.5(EGFR):c.45G>A (p.Leu15=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1053333	NM_005228.5(EGFR):c.46G>T (p.Ala16Ser)	EGFR (A16S)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2982949	NM_005228.5(EGFR):c.51G>C (p.Ala17=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1095450	NM_005228.5(EGFR):c.51G>T (p.Ala17=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 840352	NM_005228.5(EGFR):c.52C>T (p.Leu18Phe)	EGFR (L18F)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1938127	NM_005228.5(EGFR):c.56G>C (p.Cys19Ser)	EGFR (C19S)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1488509	NM_005228.5(EGFR):c.59C>G (p.Pro20Arg)	EGFR (P20R)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1445875	NM_005228.5(EGFR):c.60_65dup (p.Ala21_Ser22insArgAla)	EGFR	Duplication (inframe_insertion)	EGFR-related lung cancer	GUncertain significance
Select item 1041783	NM_005228.5(EGFR):c.59C>T (p.Pro20Leu)	EGFR (P20L)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 802312	NM_005228.5(EGFR):c.59C>A (p.Pro20Gln)	EGFR (P20Q)	Single nucleotide variant (missense variant)	Lung carcinoma +1 more	GUncertain significance
Select item 2877876	NM_005228.5(EGFR):c.60G>T (p.Pro20=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 938704	NM_005228.5(EGFR):c.61G>T (p.Ala21Ser)	EGFR (A21S)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 848579	NM_005228.5(EGFR):c.61G>A (p.Ala21Thr)	EGFR (A21T)	Single nucleotide variant (missense variant)	Ovarian cancer +2 more	GConflicting classifications of pathogenicity
Select item 1433721	NM_005228.5(EGFR):c.62C>T (p.Ala21Val)	EGFR (A21V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1934051	NM_005228.5(EGFR):c.63G>A (p.Ala21=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1542532	NM_005228.5(EGFR):c.63G>T (p.Ala21=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2781466	NM_005228.5(EGFR):c.65G>A (p.Ser22Asn)	EGFR (S22N)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2693939	NM_005228.5(EGFR):c.66T>C (p.Ser22=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2804733	NM_005228.5(EGFR):c.67C>A (p.Arg23=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2186986	NM_005228.5(EGFR):c.67C>T (p.Arg23Trp)	EGFR (R23W)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3015016	NM_005228.5(EGFR):c.68G>C (p.Arg23Pro)	EGFR (R23P)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2078194	NM_005228.5(EGFR):c.68G>A (p.Arg23Gln)	EGFR (R23Q)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 961288	NM_005228.5(EGFR):c.70G>A (p.Ala24Thr)	EGFR (A24T)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GUncertain significance
Select item 1510818	NM_005228.5(EGFR):c.71C>A (p.Ala24Asp)	EGFR (A24D)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2416959	NM_005228.5(EGFR):c.72T>C (p.Ala24=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1104895	NM_005228.5(EGFR):c.72T>G (p.Ala24=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1129985	NM_005228.5(EGFR):c.75G>A (p.Leu25=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1943287	NM_005228.5(EGFR):c.77A>G (p.Glu26Gly)	EGFR (E26G)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2092455	NM_005228.5(EGFR):c.83A>C (p.Lys28Thr)	EGFR (K28T)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2797236	NM_005228.5(EGFR):c.84G>A (p.Lys28=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1039684	NM_005228.5(EGFR):c.86A>C (p.Lys29Thr)	EGFR (K29T)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1461785	NM_005228.5(EGFR):c.88G>A (p.Val30Ile)	EGFR (V30I +1 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2855787	NM_005228.5(EGFR):c.88+2T>G	EGFR	Single nucleotide variant (splice donor variant)	EGFR-related lung cancer	GLikely pathogenic
Select item 1035281	NM_005228.5(EGFR):c.88+6G>C	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 2984871	NM_005228.5(EGFR):c.88+8C>T	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2879904	NM_005228.5(EGFR):c.88+9G>T	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1639223	NM_005228.5(EGFR):c.88+11G>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1667203	NM_005228.5(EGFR):c.88+13C>G	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2878543	NM_005228.5(EGFR):c.88+14T>C	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1602653	NM_005228.5(EGFR):c.88+16G>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2100812	NM_005228.5(EGFR):c.88+17C>T	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign

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