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) |
|---|---|---|---|---|
| 397 | BRCA1 | Expression | ||
| 131 | BRCA1 | Loss-of-function | loss_of_function_variant,loss_of_heterozygosity | |
| 185 | BRCA1 | Mutation | gene_variant,loss_of_function_variant | |
| 477 | BRCA1 | P968FS 3021INSTC,PRO968LEUFS,RS398122670 | NM_007294.3:c.2902_2903insTC,NP_009225.1:p.Pro968Leufs,NC_000017.10:g.41244645_41244646insGA,ENST00000471181.2:c.2902_2903insTC | frameshift_truncation |
| 1246 | BRCA1 | Q1467* Q1467X,GLN1467TER,RS397509171 | NM_007294.3:c.4399C>T,NP_009225.1:p.Gln1467Ter,NC_000017.10:g.41228590G>A,ENST00000357654.3:c.4399C>T | stop_gained |
| 403 | BRCA1 | Underexpression | ||
| 1555 | BRCA1 | W1815X W125X,W1519X,W1550X,W1576X,W1768X,W1836X,W306X,W48X,W632X,W664X,W673X,W711X | stop_gained | |
| 661 | BRCA2 | D3095E ASP3095GLU,RS80359198 | NM_000059.3:c.9285C>A,NP_000050.2:p.Asp3095Glu,ENST00000544455.1:c.9285C>A,NC_000013.10:g.32968854C>A | missense_variant |
| 2871 | BRCA2 | K3326* | ||
| 132 | BRCA2 | Loss-of-function | loss_of_function_variant | |
| 1248 | BRCA2 | M1I MET1ILE,RS80358650 | NC_000013.10:g.32890600G>T,NM_000059.3:c.3G>T,NP_000050.2:p.Met1Ile,ENST00000544455.1:c.3G>T | missense_variant |
| 1247 | BRCA2 | M1R MET1ARG,RS80358547 | NM_000059.3:c.2T>G,NC_000013.10:g.32890599T>G,NP_000050.2:p.Met1Arg,ENST00000544455.1:c.2T>G | missense_variant |
| 186 | BRCA2 | Mutation | gene_variant,loss_of_function_variant | |
| 1252 | BRCA2 | R2336P ARG2336PRO,RS28897743 | NM_000059.3:c.7007G>C,NP_000050.2:p.Arg2336Pro,NC_000013.10:g.32921033G>C,ENST00000544455.1:c.7007G>C | missense_variant |
| 708 | BRCA2 | TRUNCATING MUTATION | feature_truncation | |
| 1249 | BRCA2 | V159M VAL159MET,RS80358702 | ENST00000544455.1:c.475G>A,NM_000059.3:c.475G>A,NP_000050.2:p.Val159Met,NC_000013.10:g.32900287G>A | missense_variant |
| 1251 | BRCA2 | V211I | NC_000013.10:g.32900751G>A | missense_variant |
| 1250 | BRCA2 | V211L | NC_000013.10:g.32900751G>C | missense_variant |
| 4973 | BRD4::NUTM1 | Fusion BRD4-NUTM1 | transcript_fusion | |
| 4439 | BRIP1 | Mutation | ||
| 168 | BTK | C481S CYS481SER,RS1057519826 | NC_000023.10:g.100611165A>T,ENST00000308731.7:c.1441T>A,NM_000061.2:c.1441T>A,NP_000052.1:p.Cys481Ser | missense_variant |
| 2169 | BTK | MUTATION | ||
| 870 | BTK | T316A THR316ALA | ENST00000308731.7:c.946T>C,NM_000061.2:c.946T>C,NC_000023.10:g.100613633T>C | missense_variant |
| 5163 | C19MC | Alterations | ||
| 5157 | C19MC | Amplification | ||
| 5158 | C19MC | TTYH1::C19MC fusion | ||
| 5159 | C19MC | v::C19MC fusion | ||
| 2769 | CAD::ALK | Fusion CAD-ALK | transcript_fusion | |
| 559 | CALR | EXON 9 FRAMESHIFT | exon_variant | |
| 2388 | CALR | Mutation | ||
| 650 | CASP8 | D302H RS1045485,D285H,ASP302HIS | NM_001228.4:c.904G>C,NP_001219.2:p.Asp302His,ENST00000264275.5:c.904G>C,NC_000002.11:g.202149589G>C | missense_variant,polymorphic_sequence_variant |
| 346 | CASP8 | Overexpression | ||
| 2630 | CBFA2T3::GLIS2 | Fusion CBFA2T3-GLIS2 | transcript_fusion | |
| 431 | CBFB::MYH11 | Fusion INV(16)(P13.1;Q22),T(16;16)(P13.1;Q22),CBFB-MYH11 | transcript_fusion | |
| 2638 | CBL | Y371H | ||
| 643 | CBLB | RS2305035 D424D | NC_000003.11:g.105439026G>A,NM_001321788.1:c.1272C>T,ENST00000264122.4:c.1272C>T | synonymous_variant,polymorphic_sequence_variant |
| 326 | CBLC | EXPRESSION | ||
| 626 | CCDC6::RET | Fusion CCDC6-RET | transcript_fusion | |
| 18 | CCND1 | Amplification | transcript_amplification | |
| 19 | CCND1 | Expression | ||
| 20 | CCND1 | Overexpression | ||
| 2746 | CCND2 | Amplification | ||
| 21 | CCND2 | OVEREXPRESSION | ||
| 22 | CCND2 | PROMOTER DEMETHYLATION | ||
| 2747 | CCND3 | Amplification | ||
| 23 | CCND3 | Loss | loss_of_function_variant | |
| 187 | CCNE1 | Amplification | transcript_amplification | |
| 24 | CCNE1 | Overexpression | ||
| 2718 | CCNE1 | Underexpression | ||
| 276 | CD274 | Expression |