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) |
|---|---|---|---|---|
| 356 | ALCAM | EXPRESSION | ||
| 472 | ALDH1A2 | Overexpression | ||
| 473 | ALDH1A2 | Underexpression | ||
| 839 | ALK | Alternative Transcript (ATI) ALK(ATI),ALK INTRON 19 ATI ISOFORM,ALK ALTERNATIVE ISOFORM | ||
| 4301 | ALK | Amplification | ||
| 4331 | ALK | C1156Y RS1057519859,CYS1156TYR | ENST00000389048.3:c.3467G>A,NC_000002.11:g.29445258C>T,NM_004304.4:c.3467G>A,NP_004295.2:p.Cys1156Tyr | missense_variant |
| 5171 | ALK | Exon 2-18 Deletion | ||
| 550 | ALK | Exon 4-11 Deletion | NM_004304.5:c.953_2041del,NP_004295.2:p.Gly318_Val681delinsVal,NC_000002.11:g.29474528_29853656del | inframe_deletion |
| 8 | ALK | F1174L PHE1174LEU,RS863225281 | NM_004304.4:c.3522C>A,NP_004295.2:p.Phe1174Leu,NC_000002.11:g.29443695G>T,ENST00000389048.3:c.3522C>A | missense_variant |
| 549 | ALK | F1245C PHE1245CYS,RS863225283 | NM_004304.4:c.3734T>G,NP_004295.2:p.Phe1245Cys,NC_000002.11:g.29436859A>C,ENST00000389048.3:c.3734T>G | missense_variant |
| 1295 | ALK | F1245V PHE1245VAL,RS281864720 | NM_004304.4:c.3733T>G,NP_004295.2:p.Phe1245Val,NC_000002.11:g.29436860A>C,ENST00000389048.3:c.3733T>G | missense_variant |
| 171 | ALK | G1202R RS1057519783 | ENST00000389048.3:c.3604G>A,NC_000002.11:g.29443613C>T,NM_004304.4:c.3604G>A,NP_004295.2:p.Gly1202Arg | missense_variant |
| 308 | ALK | G1269A RS1057519781 | ENST00000389048.3:c.3806G>C,NC_000002.11:g.29432682C>G,NM_004304.4:c.3806G>C,NP_004295.2:p.Gly1269Ala | missense_variant |
| 527 | ALK | I1171 ILE1171 | ENST00000389048.3:c.3512T>C,NC_000002.11:g.29445213A>G,NM_004304.4:c.3512T>C,NP_004295.2:p.Ile1171Thr | missense_variant |
| 588 | ALK | I1171N RS1057519698 | ENST00000389048.3:c.3512T>A,NC_000002.11:g.29445213A>T,NM_004304.4:c.3512T>A,NP_004295.2:p.Ile1171Asn | missense_variant |
| 589 | ALK | I1171S ILE1171SER | ENST00000389048.3:c.3512T>G,NC_000002.11:g.29445213A>C | missense_variant |
| 3371 | ALK | I1171T | ||
| 307 | ALK | L1152R RS1057519785,LEU1152ARG | ENST00000389048.3:c.3455T>G,NC_000002.11:g.29445270A>C,NM_004304.4:c.3455T>G,NP_004295.2:p.Leu1152Arg | missense_variant |
| 4324 | ALK | L1196M LEU1196MET | missense_variant | |
| 1275 | ALK | L1198F LEU1198PHE,RS751306825 | ENST00000389048.3:c.3592C>T,NC_000002.11:g.29443625G>A,NM_004304.4:c.3592C>T,NP_004295.2:p.Leu1198Phe | missense_variant |
| 512 | ALK | Mutation | gene_variant,gain_of_function_variant | |
| 9 | ALK | R1275Q ARG1275GLN,RS113994087 | NM_004304.4:c.3824G>A,NP_004295.2:p.Arg1275Gln,NC_000002.11:g.29432664C>T,ENST00000389048.3:c.3824G>A | missense_variant |
| 172 | ALK | S1206Y RS1057519782 | ENST00000389048.3:c.3617C>A,NC_000002.11:g.29443600G>T,NM_004304.4:c.3617C>A,NP_004295.2:p.Ser1206Tyr | missense_variant |
| 4389 | ALK | T1151dup T1151_L1152INST | NC_000002.11:g.29445271_29445272insCGT | inframe_insertion |
| 528 | ALK | V1180L | ENST00000389048.3:c.3538G>C,NC_000002.11:g.29443679C>G,NP_004295.2:p.Val1180Leu,NM_004304.5:c.3538G>C | missense_variant |
| 5030 | ANO10::RAF1 | Fusion ANO10-RAF1 | transcript_fusion | |
| 174 | APC | Mutation | ||
| 2772 | APP::NRG1 | Fusion APP-NRG1 | transcript_fusion | |
| 362 | AR | AR-V7 A3,ARV7 | alternatively_spliced_transcript | |
| 175 | AR | F877L PHE877LEU | ENST00000374690.3:c.2629T>C,NC_000023.10:g.66943549T>C,NM_000044.4:c.2629T>C,NP_000035.2:p.Phe877Leu | missense_variant |
| 600 | AR | Mutation | transcript_variant | |
| 359 | AR | OVEREXPRESSION | ||
| 3716 | AR | R726L | ||
| 176 | AR | W742 TRP742 | missense_variant | |
| 10 | ARAF | S214C SER214CYS,RS1057519786 | NC_000023.10:g.47426121C>G,NM_001654.4:c.641C>G,NP_001645.1:p.Ser214Cys,ENST00000377045.4:c.641C>G | missense_variant |
| 4410 | ARAF | S214F | ||
| 825 | ARAF | S490T SER490THR | missense_variant | |
| 4411 | ARAF | V145L | ||
| 315 | AREG | Expression | ||
| 1293 | ARID1A | Loss | ||
| 1682 | ARID1A | P1175FS*5 | frameshift_variant | |
| 1510 | ARID1A | Q456* Q73X | ENST00000324856.7:c.1366C>T | stop_gained |
| 2108 | ARID1A | Underexpression | ||
| 4746 | ARID1A | Wildtype | ||
| 409 | ASNS | Amplification | transcript_amplification | |
| 3622 | ASPSCR1::TFE3 | Fusion ASPSCR1-TFE3,ASPL-TFE3 | transcript_fusion | |
| 2230 | ASS1 | Loss | ||
| 557 | ASXL1 | EXON 12 MUTATION | exon_variant | |
| 177 | ASXL1 | Mutation | protein_altering_variant | |
| 2846 | ATF7IP::JAK2 | Fusion ATF7IP-JAK2 | transcript_fusion |