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) |
|---|---|---|---|---|
| 2235 | RASA1 | Loss-of-function | ||
| 537 | RB1 | EXPRESSION | ||
| 606 | RB1 | Loss-of-function | loss_of_function_variant | |
| 638 | RB1 | M695FS*26 | ENST00000267163.4:c.2083_2084insA,NC_000013.10:g.49033946_49033947insA | frameshift_truncation |
| 799 | RB1 | Mutation | gene_variant | |
| 547 | RB1 | Overexpression | ||
| 632 | RB1 | PHOSPHORYLATION | ||
| 4647 | RB1 | Wildtype | ||
| 3116 | RBM15::MRTFA | Fusion RBM15-MKL1,RBM15-MRTFA,OTT-MAL | transcript_fusion | |
| 2681 | RCSD1::ABL1 | Fusion RCSD1-ABL1 | transcript_fusion | |
| 3526 | RCSD1::ABL2 | Fusion RCSD1-ABL2 | transcript_fusion | |
| 154 | REL | AMPLIFICATION | transcript_amplification | |
| 1260 | RET | C609Y CYS609TYR | NM_020630.4:c.1826G>A,NC_000010.10:g.43609070G>A,NP_065681.1:p.Cys609Tyr,ENST00000355710.3:c.1826G>A | missense_variant |
| 1700 | RET | C634R | ||
| 112 | RET | C634W CYS634TRP | NM_020975.4:c.1902C>G,NP_065681.1:p.Cys634Trp,ENST00000355710.3:c.1902C>G,NC_000010.10:g.43609950C>G | missense_variant |
| 4785 | RET | E632_L633del | ENST00000355710.8:c.1894_1899del ,ENSP00000347942.3:p.Glu632_Leu633del ,NM_020975.6:c.1894_1899del ,NP_066124.1:p.Glu632_Leu633del | deletion |
| 3226 | RET | G810C | ||
| 5203 | RET | G810R | ||
| 3227 | RET | G810S | ||
| 113 | RET | M918T MET918THR,RS74799832 | NM_020975.4:c.2753T>C,NP_065681.1:p.Met918Thr,ENST00000355710.3:c.2753T>C,NC_000010.10:g.43617416T>C | missense_variant |
| 1690 | RET | Mutation | ||
| 597 | RET | Overexpression | ||
| 2568 | RET | V804M | ||
| 2865 | RFX3::JAK2 | Fusion RFX3-JAK2 | transcript_fusion | |
| 665 | RHOA | MUTATION | transcription_variant,gain_of_function_variant | |
| 573 | RICTOR | Amplification | transcript_amplification | |
| 297 | RIT1 | Mutation | transcript_variant | |
| 296 | RIT1 | OVEREXPRESSION | ||
| 493 | ROBO4 | EXPRESSION | ||
| 1271 | ROS1 | G2032R GLY2032ARG,GLY2026ARG,GLY2028ARG,G2026R,G2028R,RS1057519788 | NC_000006.11:g.117638347C>T,NM_002944.2:c.6094G>A,NP_002935.2:p.Gly2032Arg,ENST00000368508.3:c.6094G>A,NM_001378902.1:c.6076G>A,NP_001365831.1:p.Gly2026Arg,NP_001365820.1:p.Gly2028Arg,NM_001378891.1:c.6082G>A,NC_000006.12:g.117317184C>T,ENST00000368507.8:c.6076G>A | missense_variant |
| 518 | ROS1 | G2101A GLY2095ALA,G2095A,GLY2101ALA | NC_000006.11:g.117631376C>G,ENST00000368508.3:c.6302G>C,NM_002944.2:c.6302G>C,NP_002935.2:p.Gly2101Ala,ENST00000368507.8:c.6284G>C,NM_001378902.1:c.6284G>C,NP_001365831.1:p.Gly2095Ala | missense_variant |
| 516 | ROS1 | L2026M LEU2026MET | NC_000006.11:g.117638365G>T,ENST00000368508.3:c.6076C>A,NM_002944.2:c.6076C>A,NP_002935.2:p.Leu2026Met | missense_variant |
| 517 | ROS1 | L2155S L2149S,LEU2155SER,LEU2149SER | NC_000006.11:g.117630062A>G,NM_002944.2:c.6464T>C,NP_002935.2:p.Leu2155Ser,ENST00000368508.3:c.6464T>C,ENSP00000357493.3:p.Leu2149Ser,NP_001365831.1:p.Leu2149Ser ,ENST00000368507.8:c.6446T>C,NM_001378902.1:c.6446T>C | missense_variant |
| 395 | RPS6 | PHOSPHORYLATION | ||
| 795 | RRM1 | Overexpression | ||
| 1257 | RRM1 | Underexpression | ||
| 796 | RRM2 | OVEREXPRESSION | ||
| 358 | RSF1 | Amplification | transcript_amplification | |
| 807 | RUNX1 | A107P A134P,ALA134PRO,RS74315451 | NM_001754.4:c.400G>C,NP_001745.2:p.Ala134Pro,NC_000021.8:g.36252962C>G,ENST00000344691.4:c.400G>C | missense_variant |
| 806 | RUNX1 | D198Y ASP198TYR | NC_000021.8:g.36231792C>A | missense_variant,loss_of_function_variant |
| 802 | RUNX1 | K83E LYS83GLU,K110E,RS121912498 | NC_000021.8:g.36259163T>C,NP_001001890.1:p.Lys83Glu,NM_001001890.2:c.247A>G,ENST00000344691.4:c.247A>G | missense_variant |
| 155 | RUNX1 | Mutation | loss_of_function_variant,transcript_variant | |
| 804 | RUNX1 | R135FSX177 | ||
| 810 | RUNX1 | T148HFSX9 C.442_449DEL,THR148HISFSX9,RS587776811 | NM_001754.4:c.442_449delACCGCAGC,NP_001745.2:p.Thr148Hisfs,NC_000021.8:g.36252913_36252920del,ENST00000300305.3:c.442_449delACCGCAGC | frameshift_truncation |
| 803 | RUNX1 | Y260* Y260X,TYR260TER,RS121912499 | NM_001001890.2:c.780C>A,NP_001001890.1:p.Tyr260Ter,NC_000021.8:g.36171704G>T,ENST00000344691.4:c.780C>A | stop_gained |
| 3126 | RUNX1::RUNX1T1 | Fusion RUNX1-RUNX1T1 | transcript_fusion | |
| 4253 | SCP2::NTRK1 | Fusion SCP2-NTRK1 | transcript_fusion | |
| 2179 | SDC4::NRG1 | Fusion SDC4-NRG1 | transcript_fusion | |
| 5013 | SDC4::ROS1 | Fusion SDC4-ROS1 | transcript_fusion | |
| 2411 | SDHB | p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC) C.589_600DUP | NM_003000.2:c.577_588dupAGCACCAGCTGC,NP_002991.2:p.193_196dupSTSC,NC_000001.10:g.17350522_17350533dup | inframe_insertion |