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) |
|---|---|---|---|---|
| 4585 | MTAP | Deletion | ||
| 867 | MTAP | Underexpression | ||
| 258 | MTHFR | A222V RS1801133,C677T,ALA222VAL | NM_005957.4:c.665C>T,NP_005948.3:p.Ala222Val,ENST00000376592.1:c.665G>A,NC_000001.10:g.11856378G>A | missense_variant |
| 610 | MTOR | A2034V ALA2034VAL | NC_000001.10:g.11187796G>A,ENST00000361445.4:c.6101C>T | missense_variant |
| 543 | MTOR | C1483Y CYS1483TYR | NC_000001.10:g.11217230C>T,ENST00000361445.4:c.4448G>A,NM_004958.3:c.4448G>A,NP_004949.1:p.Cys1483Tyr | missense_variant |
| 544 | MTOR | E1799K GLU1799LYS,RS863225264 | NM_004958.3:c.5395G>A,NP_004949.1:p.Glu1799Lys,NC_000001.10:g.11190804C>T,ENST00000361445.4:c.5395G>A | missense_variant |
| 572 | MTOR | E2014K | NM_004958.4:c.6040G>A,NC_000001.10:g.11187857C>T,NP_004949.1:p.Glu2014Lys | missense_variant |
| 4427 | MTOR | E2419K | ||
| 470 | MTOR | F2108L PHE2108LEU | NC_000001.10:g.11187094G>T,ENST00000361445.4:c.6324C>A | missense_variant |
| 283 | MTOR | H1968Y HIS1968TYR | ENST00000361445.4:c.5902C>T,NC_000001.10:g.11188519G>A,NM_004958.3:c.5902C>T,NP_004949.1:p.His1968Tyr | missense_variant,gain_of_function_variant |
| 609 | MTOR | M2327I MET2327ILE | NC_000001.10:g.11177096C>A,ENST00000361445.4:c.6981G>T | missense_variant |
| 277 | MTOR | Mutation | protein_altering_variant | |
| 284 | MTOR | P2213S PRO2213SER | NC_000001.10:g.11184580G>A,ENST00000361445.4:c.6637C>T,NM_004958.3:c.6637C>T,NP_004949.1:p.Pro2213Ser | missense_variant,gain_of_function_variant |
| 3439 | MTOR | R2152C | ||
| 542 | MTOR | S2215Y SER2215TYR | NC_000001.10:g.11184573G>T,ENST00000361445.4:c.6644C>A,NM_004958.3:c.6644C>A,NP_004949.1:p.Ser2215Tyr | missense_variant |
| 2712 | MTOR | T1977K | ||
| 2655 | MYB | AMPLIFICATION | ||
| 4328 | MYB | Rearrangement | ||
| 4882 | MYB | Truncation | ||
| 4327 | MYB::QKI | Fusion MYB-QKI | transcript_fusion | |
| 4743 | MYBL1 | Rearrangement | ||
| 1303 | MYC | Overexpression | ||
| 670 | MYCL | EXPRESSION | ||
| 298 | MYCN | Amplification | transcript_amplification | |
| 424 | MYD88 | L265P LEU265PRO,L273P,LEU273PRO,RS387907272 | NC_000003.11:g.38182641T>C,NP_002459.2:p.L265P,NM_002468.4:c.794T>C,ENST00000396334.3:c.794T>C | missense_variant,gain_of_function_variant |
| 292 | MYD88 | Overexpression | ||
| 3032 | MYOD1 | L122R LEU122ARG | missense_variant | |
| 5049 | Methylation signature | ST-EPN-ZFTA EPN, RELA,EPN-RELA,ST-EPN-RELA,ST-ZFTA,ST-RELA | ||
| 374 | NAPRT | Promoter Hypermethylation | ||
| 204 | NCOA3 | AMPLIFICATION | transcript_amplification | |
| 205 | NCOA3 | OVEREXPRESSION | ||
| 444 | NEDD9 | EXPRESSION | ||
| 4643 | NF1 | Inactivating Mutation | ||
| 698 | NF1 | Loss | loss_of_function_variant | |
| 587 | NF1 | Mutation | loss_of_function_variant,protein_altering_variant | |
| 279 | NF2 | K159fs LYS159FS*16 | NC_000022.10:g.30050674del,NC_000022.11:g.29654685del,NM_000268.3:c.476del,NP_000259.1:p.Lys159SerfsTer15 | frameshift_truncation |
| 697 | NF2 | Loss | loss_of_function_variant | |
| 245 | NF2 | Y177fs TYR177FS | ENST00000338641.4:c.527_528insT,NC_000022.10:g.30051593_30051594insT | frameshift_elongation |
| 3002 | NF2 | c.1396C>T | ||
| 3457 | NFE2L2 | G31A | ||
| 2749 | NFE2L2 | Mutation | ||
| 330 | NOTCH1 | Amplification | transcript_amplification | |
| 135 | NOTCH1 | D1642H ASP1642HIS | NC_000009.11:g.139399219C>G,ENST00000277541.6:c.4924G>C,NM_017617.4:c.4924G>C,NP_060087.3:p.Asp1642His | missense_variant |
| 601 | NOTCH1 | Loss-of-function | loss_of_function_variant | |
| 206 | NOTCH1 | Mutation | protein_altering_variant | |
| 207 | NOTCH1 | P2514FS PRO2514ARGFS | NC_000009.11:g.139390649_139390650del | frameshift_truncation |
| 136 | NOTCH1 | R2327W ARG2327TRP | NM_017617.4:c.6979C>T,NP_060087.3:p.Arg2327Trp,NC_000009.11:g.139391212G>A | missense_variant |
| 138 | NOTCH1 | S2275FS | ENST00000277541.6:c.6821_6822insT,NC_000009.11:g.139391369_139391370insA | plus_1_frameshift_variant |
| 137 | NOTCH1 | V2444FS VAL2444FS | ENST00000277541.6:c.7330delinsACA | frameshift_variant |
| 86 | NPM1 | EXON 11 MUTATION EXON 12 MUTATION | exon_variant |