All variants in the EGFR gene

Information The variants shown are described using the NM_005228.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.61G>A r.(?) p.(Ala21Thr) - likely benign g.55087031G>A g.55019338G>A EGFR(NM_005228.3):c.61G>A (p.A21T) - EGFR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.339C>T r.(?) p.(Tyr113=) - likely benign g.55211096C>T g.55143403C>T EGFR(NM_005228.3):c.339C>T (p.Y113=) - EGFR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.493C>T r.(?) p.(Arg165Trp) - VUS g.55214367C>T g.55146674C>T EGFR(NM_005228.3):c.493C>T (p.R165W) - EGFR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.531G>A r.(?) p.(Ser177=) - benign g.55214405G>A g.55146712G>A EGFR(NM_005228.3):c.531G>A (p.S177=) - EGFR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.731G>A r.(?) p.(Arg244Gln) - VUS g.55220341G>A g.55152648G>A EGFR(NM_005228.3):c.731G>A (p.R244Q) - EGFR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.758A>G r.(?) p.(Lys253Arg) - likely benign g.55221714A>G g.55154021A>G EGFR(NM_005228.3):c.758A>G (p.K253R) - EGFR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1145C>T r.(?) p.(Thr382Ile) - VUS g.55224463C>T g.55156770C>T EGFR(NM_005228.3):c.1145C>T (p.T382I) - EGFR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 11 c.1283G>A r.(?) p.(Gly428Asp) - pathogenic g.55225431G>A g.55157738G>A - - EGFR_000001 not reported in any controls in ESP5400 PubMed: Ganetzky 2015 - - Germline yes - - 0 - Rebecca Ganetzky
+/. - c.1283G>A r.(?) p.(Gly428Asp) - pathogenic (recessive) g.55225431G>A g.55157738G>A - - EGFR_000001 - PubMed: Campbell 2014 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1498+10C>T r.(=) p.(=) - likely benign g.55228041C>T g.55160348C>T EGFR(NM_001346899.1):c.1363+10C>T - EGFR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1499-4G>A r.spl? p.? - likely benign g.55229188G>A g.55161495G>A EGFR(NM_005228.3):c.1499-4G>A - EGFR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1509C>T r.(?) p.(Gly503=) - benign g.55229202C>T g.55161509C>T EGFR(NM_005228.3):c.1509C>T (p.G503=) - EGFR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1562G>A r.(?) p.(Arg521Lys) - benign g.55229255G>A g.55161562G>A EGFR(NM_005228.3):c.1562G>A (p.R521K) - EGFR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1562G>A r.(?) p.(Arg521Lys) - benign g.55229255G>A g.55161562G>A EGFR(NM_005228.3):c.1562G>A (p.R521K) - EGFR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1799T>C r.(?) p.(Met600Thr) - likely benign g.55233049T>C g.55165356T>C EGFR(NM_005228.3):c.1799T>C (p.M600T) - EGFR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1881-780C>T r.(=) p.(=) - VUS g.55238088C>T g.55170395C>T EGFR(NM_201284.1):c.1969C>T (p.Q657*) - EGFR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1881-775C>T r.(=) p.(=) - likely benign g.55238093C>T g.55170400C>T EGFR(NM_201284.1):c.1974C>T (p.S658=) - EGFR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1887T>A r.(?) p.(Thr629=) - benign g.55238874T>A g.55171181T>A EGFR(NM_005228.3):c.1887T>A (p.T629=) - EGFR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2047C>T r.(?) p.(Leu683=) - benign g.55240803C>T g.55173110C>T EGFR(NM_005228.3):c.2047C>T (p.L683=) - EGFR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.2061+17G>A r.(=) p.(=) - likely benign g.55240834G>A g.55173141G>A EGFR(NM_005228.3):c.2061+17G>A - EGFR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.2169C>T r.(?) p.(Phe723=) - likely benign g.55241721C>T g.55174028C>T EGFR(NM_005228.3):c.2169C>T (p.F723=) - EGFR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2361G>A r.(?) p.(Gln787=) - benign g.55249063G>A g.55181370G>A EGFR(NM_005228.3):c.2361G>A (p.Q787=), EGFR-AS1(NR_047551.1):n.1201C>T - EGFR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2487G>A r.(?) p.(Glu829=) - likely benign g.55259429G>A g.55191736G>A EGFR(NM_001346899.1):c.2352G>A (p.E784=) - EGFR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2508C>T r.(?) p.(Arg836=) - benign g.55259450C>T g.55191757C>T EGFR(NM_005228.3):c.2508C>T (p.R836=) - EGFR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.2621G>A r.(?) p.(Gly874Asp) - VUS g.55259563G>A g.55191870G>A EGFR(NM_005228.3):c.2621G>A (p.G874D) - EGFR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2626-19C>T r.(=) p.(=) - likely benign g.55260440C>T g.55192747C>T EGFR(NM_005228.3):c.2626-19C>T - EGFR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.2709= r.(=) p.(Thr903=) - benign g.55266417T>C g.55198724T>C EGFR(NM_005228.3):c.2709T>C (p.T903=) - EGFR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2748C>T r.(?) p.(Asp916=) - likely benign g.55266456C>T - EGFR(NM_001346899.1):c.2613C>T (p.D871=) - EGFR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2842G>A r.(?) p.(Val948Ile) - VUS g.55266550G>A g.55198857G>A - - EGFR_000002 - PubMed: Poirier 2017, Journal: Poirier 2017 - - Germline no - - 0 - Karine Poirier
./. - c.2873G>A r.(?) p.(Arg958His) - likely pathogenic g.55268033G>A g.55200340G>A NM_005228.4(EGFR):c.2873G>A p.(Arg958His) - EGFR_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
?/. - c.2885G>A r.(?) p.(Arg962His) - VUS g.55268045G>A g.55200352G>A - - EGFR_000032 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs144496976 Germline - 3/2795 individuals - 0 - Mohammed Faruq
?/. - c.2885G>A r.(?) p.(Arg962His) - VUS g.55268045G>A g.55200352G>A EGFR(NM_001346899.1):c.2750G>A (p.R917H) - EGFR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3015A>G r.(?) p.(Glu1005=) - likely benign g.55268949A>G g.55201256A>G EGFR(NM_001346899.1):c.2880A>G (p.E960=), EGFR(NM_005228.3):c.3015A>G (p.(=), p.E1005=) - EGFR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.3015A>G r.(?) p.(Glu1005=) - likely benign g.55268949A>G g.55201256A>G EGFR(NM_001346899.1):c.2880A>G (p.E960=), EGFR(NM_005228.3):c.3015A>G (p.(=), p.E1005=) - EGFR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3015A>G r.(?) p.(Glu1005=) - likely benign g.55268949A>G g.55201256A>G EGFR(NM_001346899.1):c.2880A>G (p.E960=), EGFR(NM_005228.3):c.3015A>G (p.(=), p.E1005=) - EGFR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3114+29_3114+30del r.(=) p.(=) - likely benign g.55269077_55269078del g.55201384_55201385del EGFR(NM_005228.3):c.3114+29_3114+30delTC - EGFR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.3272-9C>T r.(=) p.(=) - likely benign g.55272940C>T g.55205247C>T EGFR(NM_005228.3):c.3272-9C>T - EGFR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3453C>T r.(?) p.(Phe1151=) - likely benign g.55273130C>T g.55205437C>T EGFR(NM_005228.3):c.3453C>T (p.F1151=) - EGFR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.3551A>G r.(?) p.(Asn1184Ser) - VUS g.55273228A>G g.55205535A>G EGFR(NM_005228.3):c.3551A>G (p.N1184S) - EGFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3551A>G r.(?) p.(Asn1184Ser) - likely benign g.55273228A>G g.55205535A>G EGFR(NM_005228.3):c.3551A>G (p.N1184S) - EGFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.3629C>T r.(?) p.(Ala1210Val) - VUS g.55273306C>T g.55205613C>T EGFR(NM_005228.3):c.3629C>T (p.A1210V) - EGFR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
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