"GeneDx"[submitter] AND "EGFR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 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)	Lung cancer +1 more	GBenign/Likely benign
Select item 1232163	NM_005228.5(EGFR):c.-191A>C	EGFR	Single nucleotide variant (5 prime UTR variant)	Lung cancer +1 more	GBenign/Likely 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 1218214	NM_005228.5(EGFR):c.88+61C>A	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218416	NM_005228.5(EGFR):c.88+63G>C	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263180	NM_005228.5(EGFR):c.88+81G>T	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223678	NM_005228.5(EGFR):c.89-17723A>C	EGFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1244455	NM_005228.5(EGFR):c.89-267T>C	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236892	NM_005228.5(EGFR):c.240+58G>A	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222175	NM_005228.5(EGFR):c.241-265G>C	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774877	NM_005228.5(EGFR):c.241-8C>G	EGFR	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1064235	NM_005228.5(EGFR):c.250G>C (p.Glu84Gln)	EGFR (E31Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 859594	NM_005228.5(EGFR):c.293G>A (p.Arg98Gln)	EGFR (R98Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1270805	NM_005228.5(EGFR):c.424+135G>A	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804566	NM_005228.5(EGFR):c.425-326A>G	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208624	NM_005228.5(EGFR):c.425-126T>C	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191406	NM_005228.5(EGFR):c.425-113G>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317161	NM_005228.5(EGFR):c.425-84C>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259680	NM_005228.5(EGFR):c.474C>T (p.Asn158=)	EGFR	Single nucleotide variant (synonymous variant +1 more)	Inflammatory skin and bowel disease, neonatal, 2 +4 more	GBenign
Select item 360455	NM_005228.5(EGFR):c.531G>A (p.Ser177=)	EGFR	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 259681	NM_005228.5(EGFR):c.559+10G>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer +3 more	GBenign
Select item 1272643	NM_005228.5(EGFR):c.559+102A>T	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253722	NM_005228.5(EGFR):c.559+214G>T	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258463	NM_005228.5(EGFR):c.560-238G>A	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192769	NM_005228.5(EGFR):c.560-184T>A	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265640	NM_005228.5(EGFR):c.560-84T>C	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233950	NM_005228.5(EGFR):c.628+104C>T	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282454	NM_005228.5(EGFR):c.628+235T>C	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288886	NM_005228.5(EGFR):c.628+252C>G	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219576	NM_005228.5(EGFR):c.629-329del	EGFR	Deletion (intron variant)	not provided	GLikely benign
Select item 1217961	NM_005228.5(EGFR):c.629-330G>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277571	NM_005228.5(EGFR):c.629-62A>G	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1009597	NM_005228.5(EGFR):c.730C>T (p.Arg244Trp)	EGFR (R191W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1316991	NM_005228.5(EGFR):c.747+169C>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218567	NM_005228.5(EGFR):c.747+295T>C	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233640	NM_005228.5(EGFR):c.748-257C>G	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191793	NM_005228.5(EGFR):c.748-253C>G	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228150	NM_005228.5(EGFR):c.748-235C>T	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707329	NM_005228.5(EGFR):c.748-193G>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248590	NM_005228.5(EGFR):c.748-49G>A	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1123013	NM_005228.5(EGFR):c.769G>A (p.Glu257Lys)	EGFR (E204K +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1268274	NM_005228.5(EGFR):c.1006+151T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192774	NM_005228.5(EGFR):c.1006+284G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203667	NM_005228.5(EGFR):c.1007-169G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278013	NM_005228.5(EGFR):c.1208-244del	EGFR	Deletion (intron variant)	not provided	GBenign
Select item 1246809	NM_005228.5(EGFR):c.1208-216G>C	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276071	NM_005228.5(EGFR):c.1208-186G>C	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198165	NM_005228.5(EGFR):c.1299-197G>A	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316618	NM_005228.5(EGFR):c.1367T>C (p.Ile456Thr)	EGFR (I189T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1255377	NM_005228.5(EGFR):c.1498+22A>T	EGFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1274112	NM_005228.5(EGFR):c.1498+142C>T	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280610	NM_005228.5(EGFR):c.1499-177A>G	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 695386	NM_005228.5(EGFR):c.1509C>T (p.Gly503=)	EGFR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1436797	NM_005228.5(EGFR):c.1512G>C (p.Gln504His)	EGFR (Q237H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 854259	NM_005228.5(EGFR):c.1532C>A (p.Ser511Tyr)	EGFR (S466Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 134021	NM_005228.5(EGFR):c.1562G>A (p.Arg521Lys)	EGFR (R521K +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 1212030	NM_005228.5(EGFR):c.1631+133G>A	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225850	NM_005228.5(EGFR):c.1631+219T>C	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191662	NM_005228.5(EGFR):c.1722+26G>A	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181986	NM_005228.5(EGFR):c.1722+68T>C	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195672	NM_005228.5(EGFR):c.1722+136G>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215445	NM_005228.5(EGFR):c.1723-294C>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264706	NM_005228.5(EGFR):c.1723-247G>T	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203088	NM_005228.5(EGFR):c.1723-88C>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190434	NM_005228.5(EGFR):c.1723-64T>G	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1009011	NM_005228.5(EGFR):c.1795G>A (p.Val599Ile)	EGFR (V332I +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GUncertain significance
Select item 360461	NM_005228.5(EGFR):c.1839C>T (p.Ala613=)	EGFR	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1194123	NM_005228.5(EGFR):c.1880+34C>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229994	NM_005228.5(EGFR):c.1880+55C>T	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212892	NM_005228.5(EGFR):c.1880+77C>A	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220253	NM_005228.5(EGFR):c.1880+294A>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287799	NM_005228.5(EGFR):c.1881-2848T>C	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182075	NM_005228.5(EGFR):c.1881-2611A>C	EGFR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1201347	NM_005228.5(EGFR):c.1881-2410T>C	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204260	NM_005228.5(EGFR):c.1881-2372T>A	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193383	NM_005228.5(EGFR):c.1881-2340A>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203475	NM_005228.5(EGFR):c.1881-891T>C	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241373	NM_005228.5(EGFR):c.1881-781C>T	EGFR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1048935	NM_005228.5(EGFR):c.1881-721G>A	EGFR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 134034	NM_005228.5(EGFR):c.1881-641C>T	EGFR (S703F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1217446	NM_005228.5(EGFR):c.1881-615G>A	EGFR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1289672	NM_005228.5(EGFR):c.1881-600G>A	EGFR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1276760	NM_005228.5(EGFR):c.1881-488A>G	EGFR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1804478	NM_005228.5(EGFR):c.1881-409G>A	EGFR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1274013	NM_005228.5(EGFR):c.1881-404T>G	EGFR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1197462	NM_005228.5(EGFR):c.1881-226C>T	EGFR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 259677	NM_005228.5(EGFR):c.1887T>A (p.Thr629=)	EGFR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 1196244	NM_005228.5(EGFR):c.1919+134T>G	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1343862	NM_005228.5(EGFR):c.1919+136A>G	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203096	NM_005228.5(EGFR):c.1919+174G>A	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208995	NM_005228.5(EGFR):c.1919+183C>T	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250544	NM_005228.5(EGFR):c.1919+258G>A	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183478	NM_005228.5(EGFR):c.1920-248A>G	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286588	NM_005228.5(EGFR):c.1920-215G>C	EGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 360464	NM_005228.5(EGFR):c.2047C>T (p.Leu683=)	EGFR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1174198	NM_005228.5(EGFR):c.2061+65G>A	EGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign

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