Full data view for gene EGFR

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

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.61G>A likely benign r.(?) p.(Ala21Thr) Unknown g.55087031G>A - EGFR(NM_005228.3):c.61G>A (p.A21T) - EGFR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.339C>T likely benign r.(?) p.(=) Unknown g.55211096C>T - EGFR(NM_005228.3):c.339C>T (p.Y113=) - EGFR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.493C>T VUS r.(?) p.(Arg165Trp) Unknown g.55214367C>T - EGFR(NM_005228.3):c.493C>T (p.R165W) - EGFR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.531G>A benign r.(?) p.(=) Unknown g.55214405G>A - EGFR(NM_005228.3):c.531G>A (p.S177=) - EGFR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.731G>A VUS r.(?) p.(Arg244Gln) Unknown g.55220341G>A - EGFR(NM_005228.3):c.731G>A (p.R244Q) - EGFR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.758A>G likely benign r.(?) p.(Lys253Arg) Unknown g.55221714A>G - EGFR(NM_005228.3):c.758A>G (p.K253R) - EGFR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1145C>T VUS r.(?) p.(Thr382Ile) Unknown g.55224463C>T - EGFR(NM_005228.3):c.1145C>T (p.T382I) - EGFR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1283G>A - r.(?) p.(Gly428Asp) Both (homozygous) g.55225431G>A g.55157738G>A - - EGFR_000001 not reported in any controls in ESP5400 PubMed: Ganetzky 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG peripheral blood - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) 26436111-Pat PubMed: Ganetzky 2015 2 affected homozygous siblings, unaffected carrier parents M yes ? (unknown) Romani 00y01m 0 yes - 2 Rebecca Ganetzky
+/. - c.1283G>A pathogenic (recessive) r.(?) p.(Gly428Asp) Both (homozygous) g.55225431G>A - - - EGFR_000001 - PubMed: Campbell 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) 24691054-Pat PubMed: Campbell 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Poland gypsy Roma - 0 - - 1 Johan den Dunnen
-?/. - c.1499-4G>A likely benign r.spl? p.? Unknown g.55229188G>A - EGFR(NM_005228.3):c.1499-4G>A - EGFR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1509C>T benign r.(?) p.(=) Unknown g.55229202C>T - EGFR(NM_005228.3):c.1509C>T (p.G503=) - EGFR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1562G>A benign r.(?) p.(Arg521Lys) Unknown g.55229255G>A - EGFR(NM_005228.3):c.1562G>A (p.R521K) - EGFR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1562G>A benign r.(?) p.(Arg521Lys) Unknown g.55229255G>A - EGFR(NM_005228.3):c.1562G>A (p.R521K) - EGFR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1799T>C likely benign r.(?) p.(Met600Thr) Unknown g.55233049T>C - EGFR(NM_005228.3):c.1799T>C (p.M600T) - EGFR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1881-780C>T VUS r.(=) p.(=) Unknown g.55238088C>T - EGFR(NM_201284.1):c.1969C>T (p.Q657*) - EGFR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1881-775C>T likely benign r.(=) p.(=) Unknown g.55238093C>T - EGFR(NM_201284.1):c.1974C>T (p.S658=) - EGFR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1887T>A benign r.(?) p.(=) Unknown g.55238874T>A - EGFR(NM_005228.3):c.1887T>A (p.T629=) - EGFR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2047C>T benign r.(?) p.(=) Unknown g.55240803C>T - EGFR(NM_005228.3):c.2047C>T (p.L683=) - EGFR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2061+17G>A likely benign r.(=) p.(=) Unknown g.55240834G>A - EGFR(NM_005228.3):c.2061+17G>A - EGFR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2169C>T likely benign r.(?) p.(=) Unknown g.55241721C>T - EGFR(NM_005228.3):c.2169C>T (p.F723=) - EGFR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2361G>A benign r.(?) p.(=) Unknown g.55249063G>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 - - - - - - - - - - - - - - - - - - -
-/. - c.2508C>T benign r.(?) p.(=) Unknown g.55259450C>T - EGFR(NM_005228.3):c.2508C>T (p.R836=) - EGFR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2621G>A VUS r.(?) p.(Gly874Asp) Unknown g.55259563G>A - EGFR(NM_005228.3):c.2621G>A (p.G874D) - EGFR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2626-19C>T likely benign r.(=) p.(=) Unknown g.55260440C>T - EGFR(NM_005228.3):c.2626-19C>T - EGFR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2709T>C benign r.(?) p.(=) Unknown g.55266417T>C - EGFR(NM_005228.3):c.2709T>C (p.T903=) - EGFR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2842G>A - r.(?) p.(Val948Ile) Unknown g.55266550G>A g.55198857G>A - - EGFR_000002 - PubMed: Poirier 2017, Journal: Poirier 2017 - - Germline no - - 0 - DNA SEQ-NG blood - ID 28145425-Fam PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 3 affecteds, father, daugther and son F;M ? France - - 0 - - 3 Karine Poirier
./. - c.2873G>A - r.(?) p.(Arg958His) Unknown 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 - DNA SEQ-NG - - cancer, gastric Vogelaar-509A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - 1 Marjolijn JL Ligtenberg
-?/. - c.3015A>G likely benign r.(?) p.(=) Unknown g.55268949A>G - EGFR(NM_005228.3):c.3015A>G (p.E1005=, p.(=)) - EGFR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3015A>G likely benign r.(?) p.(=) Unknown g.55268949A>G - EGFR(NM_005228.3):c.3015A>G (p.E1005=, p.(=)) - EGFR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3015A>G likely benign r.(?) p.(=) Unknown g.55268949A>G - EGFR(NM_005228.3):c.3015A>G (p.E1005=, p.(=)) - EGFR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3114+29_3114+30del likely benign r.(=) p.(=) Unknown g.55269077_55269078del - EGFR(NM_005228.3):c.3114+29_3114+30delTC - EGFR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3272-9C>T likely benign r.(=) p.(=) Unknown g.55272940C>T - EGFR(NM_005228.3):c.3272-9C>T - EGFR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3453C>T likely benign r.(?) p.(=) Unknown g.55273130C>T - EGFR(NM_005228.3):c.3453C>T (p.F1151=) - EGFR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3551A>G VUS r.(?) p.(Asn1184Ser) Unknown g.55273228A>G - EGFR(NM_005228.3):c.3551A>G (p.N1184S) - EGFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3551A>G likely benign r.(?) p.(Asn1184Ser) Unknown g.55273228A>G - EGFR(NM_005228.3):c.3551A>G (p.N1184S) - EGFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3629C>T VUS r.(?) p.(Ala1210Val) Unknown g.55273306C>T - EGFR(NM_005228.3):c.3629C>T (p.A1210V) - EGFR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend