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) |
|---|---|---|---|---|
| 910 | KRAS | Q61K RS121913238,GLN61LYS | NM_004985.4:c.181C>A,NP_004976.2:p.Gln61Lys,NC_000012.11:g.25380277G>T,ENST00000256078.4:c.181C>A | missense_variant |
| 908 | KRAS | Q61L RS121913240,GLN61LEU | NM_004985.4:c.182A>T,NP_004976.2:p.Gln61Leu,NC_000012.11:g.25380276T>A,ENST00000256078.4:c.182A>T | missense_variant |
| 909 | KRAS | Q61R RS121913240,GLN61ARG | NM_004985.4:c.182A>G,NP_004976.2:p.Gln61Arg,NC_000012.11:g.25380276T>C,ENST00000256078.4:c.182A>G | missense_variant |
| 1207 | KRAS | R164Q ARG164GLN,RS758575947 | NC_000012.11:g.25368454C>T,NC_000012.12:g.25215520C>T,NP_203524.1:p.Arg164Gln,NM_033360.4:c.491G>A | missense_variant |
| 254 | KRAS | RS61764370 | NC_000012.11:g.25360224A>C,NM_004985.4:c.*2505T>G,ENST00000311936.3:c.*2505T>G | 3_prime_UTR_variant |
| 3200 | KRAS | Wildtype | wild_type | |
| 446 | KRT18 | UNDEREXPRESSION | ||
| 4945 | Kataegis | Positive | ||
| 441 | LEPR | UNDEREXPRESSION | ||
| 1278 | LMNA::NTRK1 | Fusion LMNA-NTRK1 | transcript_fusion | |
| 2968 | LPP::HMGA2 | Fusion LPP-HMGA2 | transcript_fusion | |
| 647 | LRP1B | Deletion | transcript_ablation | |
| 266 | LRP1B | Exon 12-22 Deletion | ENST00000389484.3:c.1790_3520del | exon_loss_variant |
| 5081 | LRP1B | Loss-of-function | ||
| 3272 | LSM14A::ABL1 | Fusion LSM14A-ABL1 | transcript_fusion | |
| 2917 | LYN | OVEREXPRESSION | ||
| 2227 | MACF1::BRAF | Fusion MACF1-BRAF | transcript_fusion | |
| 406 | MAGEH1 | EXPRESSION | ||
| 627 | MAP2K1 | C121S CYS121SER | ENST00000307102.5:c.362G>C,NC_000015.9:g.66729154G>C,NM_002755.3:c.362G>C,NP_002746.1:p.Cys121Ser | missense_variant |
| 1272 | MAP2K1 | K57N LYS57ASN,RS869025608 | NM_002755.3:c.171G>T,NP_002746.1:p.Lys57Asn,NG_008305.1:g.53245G>T,NC_000015.9:g.66727455G>T,ENST00000307102.5:c.171G>T | missense_variant |
| 82 | MAP2K1 | P124S PRO124SER | ENST00000307102.5:c.370C>T,NC_000015.9:g.66729162C>T,NM_002755.3:c.370C>T,NP_002746.1:p.Pro124Ser | missense_variant |
| 83 | MAP2K1 | Q56P GLN56PRO,RS1057519729 | ENST00000307102.5:c.167A>C,NC_000015.9:g.66727451A>C,NM_002755.3:c.167A>C,NP_002746.1:p.Gln56Pro | missense_variant |
| 655 | MAP2K1 | Q56_V60del | ENST00000307102.5:c.165_179del,NC_000015.9:g.66727449_66727463del | inframe_deletion |
| 566 | MAP2K7 | E116K GLU116LYS | NC_000019.9:g.7975157G>A | missense_variant |
| 321 | MAPK1 | Amplification | transcript_amplification | |
| 320 | MAPK1 | E322K GLU322LYS | ENST00000215832.6:c.964G>A,NC_000002.11:g.22127164C>T,NP_002736.3:p.Glu322Lys,NM_002745.4:c.964G>A | missense_variant,gain_of_function_variant |
| 343 | MDM2 | EXPRESSION | ||
| 642 | MDM2 | RS34886328 | 3_prime_UTR_truncation | |
| 495 | MDM2 | SNP309 | NC_000012.11:g.69202580T>G | coding_transcript_intron_variant |
| 5168 | MECOM | rearrangement | ||
| 30 | MEF2D::CSF1R | Fusion MEF2D-CSF1R | transcript_fusion | |
| 5055 | MEF2D::v | Fusion MEF2D Fusion | transcript_fusion | |
| 667 | MEN1 | FRAMESHIFT TRUNCATION | NC_000011.9:g.64572092del | frameshift_truncation |
| 1299 | MERTK | OVEREXPRESSION | ||
| 270 | MET | Amplification | transcript_amplification | |
| 649 | MET | D1228N D1246N,ASP1246ASN,ASP1228ASN | NC_000007.13:g.116423407G>A,NC_000007.14:g.116783353G>A,ENST00000397752.8:c.3682G>A,ENSP00000380860.3:p.Asp1228Asn,ENST00000397752.7:c.3682G>A,ENSP00000380860.3:p.Asp1228Asn,NM_000245.4:c.3682G>A,NP_000236.2:p.Asp1228Asn,NM_000245.3:c.3682G>A,NP_000236.2:p.Asp1228Asn | missense_variant |
| 798 | MET | D1228V ASP1228VAL,D1246V,ASP1246VAL | ENST00000318493.11:c.3737A>T,ENSP00000317272.6:p.Asp1246Val,NM_001127500.3:c.3737A>T,NP_001120972.1:p.Asp1246Val | missense_variant |
| 324 | MET | Exon 14 Skipping Mutation | exon_loss_variant | |
| 323 | MET | Mutation | transcription_variant,gain_of_function_variant | |
| 621 | MET | Overexpression | ||
| 2774 | MET | R1004G ARG1004GLY | NC_000007.14:g.116771971C>G,NC_000007.13:g.116412025C>G,ENST00000397752.8:c.3010C>G,ENSP00000380860.3:p.Arg1004Gly,NM_000245.4:c.3010C>G,NP_000236.2:p.Arg1004Gly | missense_variant |
| 4386 | MET | Splice Site (c.3028G>A) EXON 14 SPLICE DONOR VARIANT | NC_000007.14:g.116771989G>A,NC_000007.13:g.116412043G>A,ENST00000397752.8:c.3028G>A,NM_000245.4:c.3028G>A | splice_donor_variant |
| 2894 | MET::ATXN7L1 | Fusion MET-ATXN7L1 | transcript_fusion | |
| 85 | MGMT | Promoter Methylation | ||
| 338 | MGMT | RS16906252 | NC_000010.10:g.131265545C>T | synonymous_variant |
| 1255 | MGMT | Underexpression | ||
| 476 | MIR218-1 | EXPRESSION | ||
| 498 | MIR218-1 | UNDEREXPRESSION | ||
| 624 | MKI67 | EXPRESSION | ||
| 748 | MLH1 | *757L X757L | ENST00000231790.2:c.2270A>T,NC_000003.11:g.37092143A>T | stop_lost |