CIViC Variants
1951 variants indexed
Variant Types
Sequence Ontology (SO) terms describing the molecular consequence of each variant, as curated in CIViC. Hover a bar for the definition.
| CIViC ID | Gene | Variant | HGVS | Type(s) |
|---|---|---|---|---|
| 996 | EGFR | A289V RS149840192,ALA289VAL | NM_005228.4:c.866C>T,NP_005219.2:p.Ala289Val,NC_000007.13:g.55221822C>T,ENST00000275493.2:c.866C>T | missense_variant |
| 1515 | EGFR | A763_Y764insFQEA RS397517106 | NP_001333827.1:p.Ala763_Tyr764insPheGlnGluAla,NC_000007.13:g.55248992_55248993insTCCAGGAAGCCT,NM_001346898.1:c.2290_2291insTCCAGGAAGCCT | inframe_insertion |
| 5280 | EGFR | A767_S768insTLA | ||
| 1579 | EGFR | A767_V769dupASV | inframe_insertion | |
| 1187 | EGFR | A864T A811T,A819T,ALA864THR,RS1171287261 | ENST00000275493.2:c.2590G>A,NC_000007.13:g.55259532G>A,NM_005228.3:c.2590G>A,NP_005219.2:p.Ala864Thr | missense_variant |
| 190 | EGFR | Amplification | transcript_amplification | |
| 5309 | EGFR | C775_R776insNPHVC | ||
| 415 | EGFR | C797S CYS797SER,RS1057519861 | NC_000007.13:g.55249091T>A,ENST00000275493.2:c.2389T>A,NM_005228.4:c.2389T>A,NP_005219.2:p.Cys797Ser | missense_variant |
| 1574 | EGFR | C797Y C744Y,C752Y,CYS797TYR | ENST00000275493.2:c.2390G>A,NM_005228.3:c.2390G>A,NC_000007.13:g.55249092G>A,NP_005219.2:p.Cys797Tyr | missense_variant |
| 191 | EGFR | Copy Number Variation | copy_number_change | |
| 712 | EGFR | D761Y ASP761TYR,RS121913418 | ENST00000275493.2:c.2281G>T,NM_005228.4:c.2281G>T,NP_005219.2:p.Asp761Tyr,NC_000007.13:g.55242511G>T | missense_variant |
| 5286 | EGFR | D770_N771insD | ||
| 5287 | EGFR | D770_N771insF | ||
| 1512 | EGFR | D770_N771insG ASP770_ASN771INSGLY | NC_000007.14:g.55181319_55181320insGGT,NC_000007.13:g.55249012_55249013insGGT,ENST00000275493.7:c.2310_2311insGGT,ENSP00000275493.2:p.Asp770_Asn771insGly,NM_005228.5:c.2310_2311insGGT,NP_005219.2:p.Asp770_Asn771insGly | inframe_insertion |
| 5288 | EGFR | D770_N771insGD | ||
| 1514 | EGFR | D770_N771insGL RS397517111 | NC_000007.13:g.55249012_55249013insGGGTTA,NM_005228.3:c.2310_2311insGGGTTA,NP_005219.2:p.Asp770_Asn771insGlyLeu | inframe_insertion |
| 1566 | EGFR | D770_N771insGT ASP770_ASN771INSGLYTHR | NC_000007.13:g.55249012_55249013insGGCACA,NM_005228.3:c.2310_2311insGGCACA,NP_005219.2:p.Cys770_Gly771insGlyThr,NC_000007.14:g.55181319_55181320insGGCACA,ENST00000275493.7:c.2310_2311insGGCACA,ENSP00000275493.2:p.Asp770_Asn771insGlyThr | inframe_insertion |
| 5275 | EGFR | D770_N771insH | ||
| 1569 | EGFR | D770_N771insNPG | inframe_insertion | |
| 1445 | EGFR | D770_N771insSVD S768_D770DUP,ASP770_ASN771INSSERVALASP | NC_000007.14:g.55181312_55181320dup,NC_000007.13:g.55249005_55249013dup,ENST00000275493.7:c.2303_2311dup,ENSP00000275493.2:p.Asp770_Asn771insSerValAsp,NM_005228.5:c.2303_2311dup,NP_005219.2:p.Asp770_Asn771insSerValAsp | |
| 5289 | EGFR | D770_N771insT | ||
| 5277 | EGFR | D770_N771insY | ||
| 5285 | EGFR | D770delinsAS | ||
| 2214 | EGFR | D770delinsGY | inframe_insertion,delins | |
| 3464 | EGFR | E114K GLU114LYS | NC_000007.14:g.55143404G>A,NC_000007.13:g.55211097G>A,ENST00000275493.7:c.340G>A,ENSP00000275493.2:p.Glu114Lys,NM_005228.5:c.340G>A,NP_005219.2:p.Glu114Lys | missense_variant |
| 1572 | EGFR | E734Q E681Q,E689Q,GLU734GLN | ENST00000275493.2:c.2200G>C,NC_000007.14:g.55174737G>C,NC_000007.13:g.55242430G>C,NM_005228.5:c.2200G>C,NP_005219.2:p.Glu734Gln | missense_variant |
| 724 | EGFR | E746G GLU746GLY | ENST00000275493.2:c.2237A>G,NC_000007.13:g.55242467A>G,NM_005228.3:c.2237A>G,NP_005219.2:p.Glu746Gly | missense_variant |
| 1002 | EGFR | E746_A750del RS121913421,E746_A750DELELREA | inframe_deletion | |
| 1003 | EGFR | E746_T751>I | ||
| 1482 | EGFR | E868G GLU868GLY | ENST00000275493.2:c.2603A>G,NC_000007.14:g.55191852A>G,NC_000007.13:g.55259545A>G,ENST00000275493.7:c.2603A>G,ENSP00000275493.2:p.Glu868Gly,NM_005228.5:c.2603A>G,NP_005219.2:p.Glu868Gly | missense_variant |
| 1516 | EGFR | EGFRVIII | ||
| 375 | EGFR | Exon 18 Overexpression | exon_variant | |
| 133 | EGFR | Exon 19 Deletion | ENST00000275493.2:c.2185_2283del | inframe_deletion |
| 726 | EGFR | Exon 20 Insertion | inframe_insertion | |
| 252 | EGFR | Exon 4 Deletion | ENST00000275493.2:c.425_559del | exon_loss_variant |
| 354 | EGFR | Expression | ||
| 443 | EGFR | G465R GLY465ARG | ENST00000275493.2:c.1393G>A,NC_000007.13:g.55227926G>A,NM_005228.3:c.1393G>A,NP_005219.2:p.Gly465Arg | missense_variant |
| 997 | EGFR | G598V RS139236063 | NC_000007.13:g.55233043G>T,NM_001346898.2:c.1793G>T,NP_001333827.1:p.Gly598Val | missense_variant |
| 718 | EGFR | G719 GLY719,G719X | protein_altering_variant | |
| 999 | EGFR | G719A RS121913428,GLY719ALA | NM_005228.4:c.2156G>C,NP_005219.2:p.Gly719Ala,NC_000007.13:g.55241708G>C,ENST00000275493.2:c.2156G>C | missense_variant |
| 1420 | EGFR | G719D RS121913428,GLY719ASP | NC_000007.14:g.55174015G>A,NC_000007.13:g.55241708G>A,ENST00000275493.7:c.2156G>A,ENSP00000275493.2:p.Gly719Asp,NM_005228.5:c.2156G>A,NP_005219.2:p.Gly719Asp | missense_variant |
| 134 | EGFR | G719S GLY719SER,RS28929495 | ENST00000275493.2:c.2155G>A,NC_000007.13:g.55241707G>A,NM_005228.4:c.2155G>A,NP_005219.2:p.Gly719Ser | missense_variant |
| 317 | EGFR | G724S GLY724SER,RS1051753269 | NC_000007.13:g.55241722G>A,ENST00000275493.2:c.2170G>A,NM_005228.4:c.2170G>A,NP_005219.2:p.Gly724Ser | missense_variant |
| 1765 | EGFR | Gain-of-function ACTIVATING MUTATION | ||
| 5274 | EGFR | H773_V774insAH | ||
| 5279 | EGFR | H773_V774insGNPH | ||
| 1446 | EGFR | H773_V774insH | p.His773dup,c.55249019_55249021dup | |
| 5307 | EGFR | H773_V774insHPH | ||
| 1513 | EGFR | H773_V774insNPH | inframe_insertion | |
| 5273 | EGFR | H773_V774insPH |