ClinVar for Gene (Select 126860048) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3014442	NM_005228.5(EGFR):c.1007-8C>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3012404	NM_005228.5(EGFR):c.1080A>C (p.Lys360Asn)	EGFR, LOC126860048 (K307N +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3011781	NM_005228.5(EGFR):c.1134-15T>A	LOC126860048, EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 3002788	NM_005228.5(EGFR):c.1207+20A>G	EGFR, LOC126860048	Single nucleotide variant (3 prime UTR variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2987812	NM_005228.5(EGFR):c.1134-17C>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2959466	NM_005228.5(EGFR):c.1130G>A (p.Arg377Lys)	EGFR, LOC126860048 (R324K +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2894661	NM_005228.5(EGFR):c.1203C>T (p.Ile401=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2876970	NM_005228.5(EGFR):c.1207+16T>C	EGFR, LOC126860048	Single nucleotide variant (3 prime UTR variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2875531	NM_005228.5(EGFR):c.1207+19C>T	EGFR, LOC126860048	Single nucleotide variant (3 prime UTR variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2851640	NM_005228.5(EGFR):c.1134-11_1134-9del	EGFR, LOC126860048	Microsatellite (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2841664	NM_005228.5(EGFR):c.1134-7_1134-4del	EGFR, LOC126860048	Microsatellite (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 2835235	NM_005228.5(EGFR):c.1082A>G (p.Asn361Ser)	EGFR, LOC126860048 (N361S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2832566	NM_005228.5(EGFR):c.1200A>G (p.Glu400=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2819404	NM_005228.5(EGFR):c.1103del (p.Asp368fs)	EGFR, LOC126860048 (D315fs +3 more)	Deletion (frameshift variant)	EGFR-related lung cancer	GPathogenic
Select item 2817131	NM_005228.5(EGFR):c.1007-10A>G	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2804071	NM_005228.5(EGFR):c.1149_1169dup (p.Pro389_Gln390insHisThrProProLeuAspPro)	EGFR, LOC126860048	Duplication (inframe_insertion)	EGFR-related lung cancer	GUncertain significance
Select item 2799484	NM_005228.5(EGFR):c.1133+12G>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2781065	NM_005228.5(EGFR):c.1043C>T (p.Ser348Leu)	EGFR, LOC126860048 (S295L +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2777401	NM_005228.5(EGFR):c.1118C>T (p.Pro373Leu)	EGFR, LOC126860048 (P106L +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2776343	NM_005228.5(EGFR):c.1030G>A (p.Glu344Lys)	EGFR, LOC126860048 (E299K +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2770102	NM_005228.5(EGFR):c.1147C>T (p.His383Tyr)	EGFR, LOC126860048 (H116Y +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2761266	NM_005228.5(EGFR):c.1207+4_1207+5insAA	EGFR, LOC126860048 (S405fs)	Insertion (frameshift variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2758630	NM_005228.5(EGFR):c.1026T>G (p.Ile342Met)	EGFR, LOC126860048 (I289M +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2750606	NM_005228.5(EGFR):c.1074C>A (p.His358Gln)	EGFR, LOC126860048 (H305Q +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2710227	NM_005228.5(EGFR):c.1125A>T (p.Ala375=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2708948	NM_005228.5(EGFR):c.1099G>T (p.Gly367Cys)	EGFR, LOC126860048 (G322C +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2702247	NM_005228.5(EGFR):c.1207+18A>G	EGFR, LOC126860048	Single nucleotide variant (intron variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2701271	NM_005228.5(EGFR):c.1207+8C>G	EGFR, LOC126860048 (S405R)	Single nucleotide variant (intron variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2697848	NM_005228.5(EGFR):c.1044A>G (p.Ser348=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2418624	NM_005228.5(EGFR):c.1191C>T (p.Thr397=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2193162	NM_005228.5(EGFR):c.1062G>A (p.Thr354=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2177236	NM_005228.5(EGFR):c.1125A>C (p.Ala375=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2130154	NM_005228.5(EGFR):c.1057G>T (p.Ala353Ser)	EGFR, LOC126860048 (A86S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2127103	NM_005228.5(EGFR):c.1093A>G (p.Ile365Val)	EGFR, LOC126860048 (I320V +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2117794	NM_005228.5(EGFR):c.1133+19T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2114097	NM_005228.5(EGFR):c.1007-8_1007-5del	EGFR, LOC126860048	Deletion (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 2105110	NM_005228.5(EGFR):c.1151C>T (p.Thr384Ile)	EGFR, LOC126860048 (T117I +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2103284	NM_005228.5(EGFR):c.1161G>A (p.Leu387=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2099631	NM_005228.5(EGFR):c.1134-8T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2087947	NM_005228.5(EGFR):c.1134-11G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2055612	NM_005228.5(EGFR):c.1025T>G (p.Ile342Ser)	EGFR, LOC126860048 (I342S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2039667	NM_005228.5(EGFR):c.1207+13T>C	EGFR, LOC126860048	Single nucleotide variant (3 prime UTR variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2034775	NM_005228.5(EGFR):c.1134-7G>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2019529	NM_005228.5(EGFR):c.1134-12T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2014942	NM_005228.5(EGFR):c.1132G>T (p.Gly378Cys)	EGFR, LOC126860048 (G325C +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2013164	NM_005228.5(EGFR):c.1132G>A (p.Gly378Ser)	EGFR, LOC126860048 (G325S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2006897	NM_005228.5(EGFR):c.1133+10A>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2004955	NM_005228.5(EGFR):c.1139C>T (p.Ser380Phe)	EGFR, LOC126860048 (S327F +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1975113	NM_005228.5(EGFR):c.1007-15C>G	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1950017	NM_005228.5(EGFR):c.1007-18TC[2]	EGFR, LOC126860048	Microsatellite (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1927630	NM_005228.5(EGFR):c.1207+9T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 1926494	NM_005228.5(EGFR):c.1159C>T (p.Leu387=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GUncertain significance
Select item 1896647	NM_005228.5(EGFR):c.1185G>A (p.Leu395=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1716453	NM_005228.5(EGFR):c.1110C>A (p.His370Gln)	EGFR, LOC126860048 (H103Q +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1692864	NM_005228.5(EGFR):c.1118C>G (p.Pro373Arg)	EGFR, LOC126860048 (P106R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1674049	NM_005228.5(EGFR):c.1134-16C>G	LOC126860048, EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1664170	NM_005228.5(EGFR):c.1207+15A>C	EGFR, LOC126860048	Single nucleotide variant (intron variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 1646814	NM_005228.5(EGFR):c.1007-20C>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1635567	NM_005228.5(EGFR):c.1131G>A (p.Arg377=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1621012	NM_005228.5(EGFR):c.1134-14G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1620220	NM_005228.5(EGFR):c.1014C>T (p.Asn338=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1616758	NM_005228.5(EGFR):c.1098T>C (p.Ser366=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1597177	NM_005228.5(EGFR):c.1029T>C (p.Gly343=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GBenign
Select item 1578988	NM_005228.5(EGFR):c.1134-7G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1560057	NM_005228.5(EGFR):c.1134-14G>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1557984	NM_005228.5(EGFR):c.1008G>T (p.Val336=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1557055	NM_005228.5(EGFR):c.1089C>T (p.Thr363=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1551762	NM_005228.5(EGFR):c.1007-19G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1543674	NM_005228.5(EGFR):c.1134-19A>C	LOC126860048, EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1540051	NM_005228.5(EGFR):c.1133+11_1133+13del	EGFR, LOC126860048	Deletion (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1538547	NM_005228.5(EGFR):c.1133+17G>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1537787	NM_005228.5(EGFR):c.1007-19G>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1537285	NM_005228.5(EGFR):c.1134-19A>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1536547	NM_005228.5(EGFR):c.1007-12_1007-11del	EGFR, LOC126860048	Deletion (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1535037	NM_005228.5(EGFR):c.1062G>T (p.Thr354=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1517474	NM_005228.5(EGFR):c.1072C>T (p.His358Tyr)	EGFR, LOC126860048 (H91Y +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1509945	NM_005228.5(EGFR):c.1028G>T (p.Gly343Val)	EGFR, LOC126860048 (G343V +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1480622	NM_005228.5(EGFR):c.1207+5G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 1465036	NM_005228.5(EGFR):c.1007-1G>A	EGFR, LOC126860048	Single nucleotide variant (splice acceptor variant)	EGFR-related lung cancer	GLikely pathogenic
Select item 1445961	NM_005228.5(EGFR):c.1102G>A (p.Asp368Asn)	EGFR, LOC126860048 (D323N +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1444668	NM_005228.5(EGFR):c.1134-6T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 1438557	NM_005228.5(EGFR):c.1028G>A (p.Gly343Asp)	EGFR, LOC126860048 (G343D +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1438198	NM_005228.5(EGFR):c.1025T>C (p.Ile342Thr)	EGFR, LOC126860048 (I342T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1427794	NM_005228.5(EGFR):c.1104T>G (p.Asp368Glu)	EGFR, LOC126860048 (D101E +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1416358	NM_005228.5(EGFR):c.1148A>G (p.His383Arg)	EGFR, LOC126860048 (H116R +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1393720	NM_005228.5(EGFR):c.1133+3G>A	LOC126860048, EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 1390414	NM_005228.5(EGFR):c.1064A>G (p.Asn355Ser)	EGFR, LOC126860048 (N355S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1350988	NM_005228.5(EGFR):c.1202T>A (p.Ile401Asn)	EGFR, LOC126860048 (I348N +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1348863	NM_005228.5(EGFR):c.1178A>C (p.Asp393Ala)	EGFR, LOC126860048 (D126A +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1347314	NM_005228.5(EGFR):c.1162G>T (p.Asp388Tyr)	EGFR, LOC126860048 (D121Y +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1268274	NM_005228.5(EGFR):c.1006+151T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203667	NM_005228.5(EGFR):c.1007-169G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192774	NM_005228.5(EGFR):c.1006+284G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164620	NM_005228.5(EGFR):c.1047C>G (p.Leu349=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer +1 more	GBenign/Likely benign
Select item 1158552	NM_005228.5(EGFR):c.1143C>T (p.Phe381=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1157002	NM_005228.5(EGFR):c.1167A>C (p.Pro389=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1153029	NM_005228.5(EGFR):c.1110C>T (p.His370=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1152686	NM_005228.5(EGFR):c.1174C>T (p.Leu392=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1145642	NM_005228.5(EGFR):c.1041C>T (p.Asp347=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1137208	NM_005228.5(EGFR):c.1065T>C (p.Asn355=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign

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