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) |
|---|---|---|---|---|
| 1017 | EGFR | R831H RS150036236,ARG831HIS | ENST00000275493.2:c.2492G>A,NC_000007.13:g.55259434G>A,NM_005228.4:c.2492G>A,NP_005219.2:p.Arg831His,NC_000007.14:g.55191741G>A | missense_variant |
| 1863 | EGFR | Rare Exon 18-21 Mutation | exon_variant | |
| 2334 | EGFR | Rare Mutation | ||
| 453 | EGFR | S492R SER492ARG,RS1057519860 | ENST00000275493.2:c.1476C>A,NC_000007.13:g.55228009C>A,NP_005219.2:p.Ser492Arg,NM_005228.4:c.1476C>A | missense_variant |
| 4408 | EGFR | S645C | ||
| 720 | EGFR | S720 SER720 | protein_altering_variant | |
| 562 | EGFR | S768I SER768ILE,RS121913465 | NC_000007.13:g.55249005G>T,ENST00000275493.2:c.2303G>T,NM_005228.4:c.2303G>T,NP_005219.2:p.Ser768Ile | missense_variant |
| 1511 | EGFR | S768_D770dup | inframe_insertion | |
| 5281 | EGFR | S768_V769insLDS | ||
| 995 | EGFR | T263P THR263PRO | NM_005228.4:c.787A>C,NP_005219.2:p.Thr263Pro,NC_000007.13:g.55221743A>C,ENST00000275493.2:c.787A>C | missense_variant |
| 1573 | EGFR | T785A T732A,T740A | ENST00000275493.2:c.2353A>G | missense_variant |
| 34 | EGFR | T790M THR790MET,RS121434569 | ENST00000275493.2:c.2369C>T,NC_000007.13:g.55249071C>T,NM_005228.4:c.2369C>T,NP_005219.2:p.Thr790Met | missense_variant |
| 1463 | EGFR | T847I | missense_variant | |
| 2613 | EGFR | V441F VAL441PHE | missense_variant | |
| 1001 | EGFR | V742A RS121913466 | NM_005228.4:c.2225T>C,NP_005219.2:p.Val742Ala,NC_000007.13:g.55242455T>C,ENST00000275493.2:c.2225T>C | missense_variant |
| 736 | EGFR | V769_D770insASV VAL769_ASP770INSALASERVAL, V769_770INSASV | NM_005228.4:c.2300_2308dupCCAGCGTGG,NP_005219.2:p.Val769_Asp770insAlaSerVal,ENST00000275493.2:c.2300_2308dupCCAGCGTGG | direct_tandem_duplication |
| 5282 | EGFR | V769_D770insCV | ||
| 5283 | EGFR | V769_D770insGA | ||
| 5284 | EGFR | V769_D770insGVASV | ||
| 1892 | EGFR | V774A VAL774ALA | ENST00000275493.2:c.2321T>C | missense_variant |
| 1894 | EGFR | V774M VAL774MET | ENST00000275493.2:c.2320G>A | missense_variant |
| 1567 | EGFR | V774_C775insHV VAL774_CYS775INSHISVAL,H773_V774DUP | NC_000007.14:g.55181326_55181331dup,NC_000007.13:g.55249019_55249024dup,ENST00000275493.7:c.2317_2322dup,ENSP00000275493.2:p.Val774_Cys775insHisVal,NM_005228.5:c.2317_2322dup,NP_005219.2:p.Val774_Cys775insHisVal,NM_005228.5:c.2316_2321dup,NC_000007.13:g.55249018_55249023dup | inframe_insertion |
| 1897 | EGFR | V834I | ||
| 1466 | EGFR | V851I | missense_variant | |
| 312 | EGFR | VIII | NM_005228.3:c.89_881del,NP_005219.2:p.Val30_Arg297delinsGly,NC_000007.13:g.55209979_55221845del | disruptive_inframe_deletion |
| 1571 | EGFR | W731L W678L,W686L,RS397517089 | ENST00000275493.2:c.2192G>T | missense_variant |
| 2174 | EGFR | Wildtype | wild_type | |
| 390 | EGFR | Y1092 PHOSPHORYLATION Y1039 PHOSPHORYLATION | ||
| 1665 | EGFR | Y764_V765insHH | inframe_insertion | |
| 1575 | EGFR | Y801H Y748H,Y756H | ENST00000275493.2:c.2401T>C | missense_variant |
| 4282 | EGFR::PURB | Fusion EGFR-PURB | transcript_fusion | |
| 2203 | EGFR::RAD51 | Fusion EGFR-RAD51 | transcript_fusion | |
| 5144 | EGFR::RAD51 | e24::e4 EGFR-RAD51 e24-e4 | transcript_fusion | |
| 4241 | EGFR::SEPTIN14 | Fusion EGFR::SEPTIN14,EGFR-SEPTIN14,EGFR::Septin-14,EGFR-SEPT14 | transcript_fusion | |
| 5167 | EGFR::USP42 | Fusion EGFR-USP42 | transcript_fusion | |
| 674 | EIF1AX | MUTATION | transcript_variant | |
| 387 | EIF4EBP1 | PHOSPHORYLATION | ||
| 4779 | EML1::NTRK2 | Fusion EML1-NTRK2 | transcript_fusion | |
| 5 | EML4::ALK | Fusion EML4-ALK | transcript_fusion | |
| 500 | EML4::ALK | e20::e20 EML4-ALK E20-E20 | transcript_fusion | |
| 501 | EML4::ALK | e2::e20 EML4-ALK E2-E20 | transcript_fusion | |
| 503 | EML4::ALK | e6::e20 EML4-ALK E6-E20 | transcript_fusion | |
| 4299 | EML4::NTRK3 | Fusion EML4-NTRK3 | transcript_fusion | |
| 435 | EPAS1 | Overexpression | ||
| 823 | EPCAM | 3' Exon Deletion | disruptive_inframe_deletion | |
| 381 | EPHB4 | EXPRESSION | ||
| 5162 | EPOR | rearrangements | ||
| 4723 | ERBB2 | A775_G776insTVMA | ||
| 4724 | ERBB2 | A775_G776insV | ||
| 4725 | ERBB2 | A775_G776insVVMA |