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) |
|---|---|---|---|---|
| 369 | TP53 | Wildtype | wild_type | |
| 3762 | TP53 | Y126D | ||
| 3763 | TP53 | Y126S | ||
| 3769 | TP53 | Y163H | ||
| 3800 | TP53 | Y163N | ||
| 922 | TP53 | Y220C RS121912666,TYR220CYS | NM_000546.5:c.659A>G,NP_000537.3:p.Tyr220Cys,NC_000017.10:g.7578190T>C,ENST00000269305.4:c.659A>G | missense_variant |
| 3779 | TP53 | Y220H | ||
| 1068 | TP53 | Y234C TYR234CYS,Y102C,Y195C,RS587780073 | NM_000546.5:c.701A>G,NP_000537.3:p.Tyr234Cys,NC_000017.10:g.7577580T>C,ENST00000269305.4:c.701A>G | missense_variant |
| 3781 | TP53 | Y234H | ||
| 3770 | TP53 | Y236S | ||
| 2992 | TPM3::NTRK1 | Fusion TPM3-NTRK1 | transcript_fusion | |
| 2850 | TPR::JAK2 | Fusion TPR-JAK2 | transcript_fusion | |
| 3465 | TPR::NTRK1 | Fusion TPR-NTRK1 | transcript_fusion | |
| 287 | TRIM24::BRAF | Fusion TRIM24-BRAF | transcript_fusion | |
| 4499 | TRIM24::FGFR1 | Fusion TRIM24-FGFR1 | transcript_fusion | |
| 2393 | TRIM63::NTRK1 | Fusion NTRK1-TRIM63 | transcript_fusion | |
| 124 | TSC1 | Frameshift Truncation | frameshift_truncation | |
| 125 | TSC1 | Loss-of-function | loss_of_function_variant | |
| 714 | TSC1 | R1062W ARG1062TRP | NM_000368.3:c.3184C>T,NP_000359.1:p.Arg1062Trp,ENST00000298552.3:c.3184C>T,NC_000009.11:g.135771933G>A | missense_variant |
| 469 | TSC2 | Q1178* Q1178X,GLN1178TER,RS45517297 | NM_000548.4:c.3532C>T,NP_000539.2:p.Gln1178Ter,ENST00000219476.3:c.3532C>T,NC_000016.9:g.2130300C>T | stop_gained |
| 224 | TTF1 | AMPLIFICATION | transcript_amplification | |
| 389 | TUBB3 | EXPRESSION | ||
| 265 | TYMS | 3TRP/3TRP genotype 5' TANDEM REPEAT | 5_prime_UTR_variant,short_tandem_repeat_variation | |
| 379 | TYMS | Amplification | transcript_amplification | |
| 347 | TYMS | Overexpression | ||
| 779 | TYMS | RS34743033 | ||
| 382 | TYMS | Underexpression | ||
| 521 | U2AF1 | MUTATION | protein_altering_variant | |
| 127 | U2AF1 | Q157P/R | NC_000021.8:g.44514777T>G | missense_variant |
| 128 | U2AF1 | S34Y/F | NC_000021.8:g.44524456G>A | missense_variant |
| 4880 | UFD1::NTRK2 | e6::e7 UFD1-NTRK2 e6-e7 | transcript_fusion | |
| 363 | UGT1A | EXPRESSION | ||
| 729 | UGT1A1 | UGT1A1*28 RS8175347 | NC_000002.11:g.234668881_234668882TA[7] | microsatellite |
| 732 | UGT1A1 | UGT1A1*60 | microsatellite | |
| 2863 | USP25::JAK2 | Fusion USP25-JAK2 | transcript_fusion | |
| 3701 | VCL::NTRK2 | Fusion VCL-NTRK2 | transcript_fusion | |
| 334 | VEGFA | Decreased Peri-therapeutic Expression | ||
| 2489 | VHL | *214C (c.641_642insC) X214C,TER214CYS,C.641INSC | ENST00000256474.2:c.641_642insC,NC_000003.11:g.10191648_10191649insC,NM_000551.3:c.641_642insC,NP_000542.1:p.Ter214CysextTer? | stop_lost |
| 1988 | VHL | *214C (c.642A>T) C.642A>T,X214C,TER214CYS,RS1559430011 | ENST00000256474.2:c.642A>T,NC_000003.11:g.10191649A>T,NM_000551.3:c.642A>T,NP_000542.1:p.Ter214Cys | stop_lost |
| 2488 | VHL | *214G (c.640T>G) X214G,TER214GLY,C.640T>G,X > GLY + 14AA | ENST00000256474.2:c.640T>G,NM_000551.3:c.640T>G,NP_000542.1:p.Ter214Gly,ENSP00000256474.2:p.Ter214Gly | stop_lost |
| 1986 | VHL | *214L (c.641G>T) X214L,*214LEXT*15,RS869025668 | NM_000551:c.641G>T,ENST00000256474.2:c.641G>T,NP_000542.1:p.Ter214Leu,NC_000003.11:g.10191648G>T | stop_lost |
| 1987 | VHL | *214W (c.642A>G) C.642A>G,TER214TRP,NM_000551:*214WEXT*14 | NM_000551.3:c.642A>G,NP_000542.1:p.Ter214Trp,ENST00000256474.2:c.642A>G,NC_000003.11:g.10191649A>G | stop_lost |
| 2930 | VHL | 106insR (c.316insGCC) | ||
| 2152 | VHL | 3'UTR alteration (c.*70C>A) C.*70C>A,(C.642+70C>A) | NC_000003.11:g.10191719C>A,ENST00000256474.2:c.*70C>A,NM_000551.3:c.*70C>A,NP_000542.1:p.= | 3_prime_UTR_variant |
| 2024 | VHL | 3'UTR alteration (c.639+10C>G) C.639+10C>G | ENST00000256474.2:c.639+10C>G | 3_prime_UTR_variant |
| 2367 | VHL | 3p26.3-25.3 11Mb del | ||
| 2028 | VHL | A122I (c.364_365GC>AT) C.364_365GC>AT,ALA122ILE | NM_000551.3:c.364_365delinsAT,ENST00000256474.2:c.364_365delinsAT,NC_000003.11:g.10188221_10188222delinsAT,NC_000003.12:g.10146537_10146538delinsAT | missense_variant |
| 820 | VHL | A149S (c.445G>T) ALA149SER,C.445G>T,RS587780077 | NP_000542.1:p.Ala149Ser,NM_000551.2:c.445G>T,ENST00000256474.2:c.445G>T,NC_000003.11:g.10188302G>T | missense_variant |
| 1744 | VHL | A149T (c.445G>A) C.445G>A,ALA149THR,RS587780077 | ENST00000256474.2:c.445G>A,NM_000551.3:c.445G>A,NP_000542.1:p.Ala149Thr,NC_000003.11:g.10188302G>A | missense_variant |
| 2042 | VHL | A149fs (c.445delG) C.445DELG,ALA149FS | ENST00000256474.2:c.445delG,NC_000003.11:g.10188302delG,NM_000551.3:c.445delG,NP_000542.1:p.Ala149ProfsTer10 | frameshift_variant,minus_1_frameshift_variant |