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) |
|---|---|---|---|---|
| 1263 | KIT | N822K ASN822LYS,RS121913514 | NM_000222.2:c.2466T>A,NP_000213.1:p.Asn822Lys,NC_000004.11:g.55599340T>A,ENST00000288135.5:c.2466T>A | missense_variant |
| 1497 | KIT | P551_E554delPMYE | inframe_deletion | |
| 482 | KIT | RS3733542 LEU862= | NC_000004.11:g.55602765G>C,NM_000222.2:c.2586G>C,NP_000213.1:p.Leu862=,ENST00000288135.5:c.2586G>C | synonymous_variant |
| 1659 | KIT | S628N S624N | missense_variant | |
| 2620 | KIT | T417_D419delinsY | ||
| 1267 | KIT | T670I THR670ILE,RS121913516 | NM_000222.2:c.2009C>T,NP_000213.1:p.Thr670Ile,NC_000004.11:g.55595519C>T,ENST00000288135.5:c.2009C>T | missense_variant |
| 2695 | KIT | V555_V559DEL | ||
| 968 | KIT | V559D RS121913517,VAL559ASP | NM_000222.2:c.1676T>A,NP_000213.1:p.Val559Asp,NC_000004.11:g.55593610T>A,ENST00000288135.5:c.1676T>A | missense_variant |
| 971 | KIT | V560D VAL560ASP,RS121913521 | ENST00000288135.5:c.1679T>A,NM_000222.2:c.1679T>A,NP_000213.1:p.Val560Asp,NC_000004.11:g.55593613T>A | missense_variant |
| 202 | KIT | V560DEL VAL560DEL,V559DEL,V555DEL,V556DEL | NC_000004.11:g.55593612_55593614del,ENST00000288135.5:c.1675_1677delGTT,NM_000222.2:c.1675_1677delGTT,NP_000213.1:p.Val560del | amino_acid_deletion,inframe_deletion |
| 972 | KIT | V560G RS121913521,VAL560GLY | NM_000222.2:c.1679T>G,NP_000213.1:p.Val560Gly,NC_000004.11:g.55593613T>G,ENST00000288135.5:c.1679T>G | missense_variant |
| 1550 | KIT | V560_L576del | inframe_deletion | |
| 5181 | KIT | V560_Y578del | ||
| 73 | KIT | V654A RS121913523,VAL654ALA | NC_000004.11:g.55594258T>C,NM_000222.2:c.1961T>C,NP_000213.1:p.Val654Ala,ENST00000288135.5:c.1961T>C | missense_variant |
| 961 | KIT | W557_K558del | conservative_inframe_deletion | |
| 2651 | KIT | Wildtype | wild_type | |
| 946 | KIT | Y503_F504insAY | NC_000004.11:g.55592185_55592186insGCCTAT | inframe_insertion |
| 989 | KIT | Y823D TYR823ASP,RS1057519761 | NM_000222.2:c.2467T>G,NP_000213.1:p.Tyr823Asp,NC_000004.11:g.55599341T>G,ENST00000288135.5:c.2467T>G | missense_variant |
| 256 | KIT | rs17084733 3' UTR MUTATION | NC_000004.11:g.55604940G>A | 3_prime_UTR_variant |
| 4306 | KLF5 | E419K | ||
| 4307 | KLF5 | E419Q | ||
| 711 | KLLN | PROMOTER METHYLATION | gene_silenced_by_DNA_methylation | |
| 4936 | KMT2A | Mutation | ||
| 2806 | KMT2A::v | Fusion MLL fusion,KMT2A Fusion | transcript_fusion | |
| 4326 | KMT2C | Loss | ||
| 668 | KMT2C | Mutation | transcription_variant,loss_of_function_variant | |
| 167 | KMT2D | Loss-of-function | loss_of_function_variant | |
| 3342 | KRAS | A11_G12insGA | ||
| 2979 | KRAS | A146 | ||
| 905 | KRAS | A146P RS121913527,ALA146PRO | NM_004985.4:c.436G>C,NP_004976.2:p.Ala146Pro,NC_000012.11:g.25378562C>G,ENST00000256078.4:c.436G>C | missense_variant |
| 906 | KRAS | A146T RS121913527,ALA146THR | NM_004985.4:c.436G>A,NP_004976.2:p.Ala146Thr,NC_000012.11:g.25378562C>T,ENST00000256078.4:c.436G>A | missense_variant |
| 322 | KRAS | A146V ALA146VAL,RS1057519725 | ENST00000256078.4:c.437C>T,NC_000012.11:g.25378561G>A,NP_004976.2:p.Ala146Val,NM_004985.4:c.437C>T | missense_variant |
| 592 | KRAS | Amplification | transcript_amplification | |
| 75 | KRAS | Exon 2 Mutation | missense_variant | |
| 3341 | KRAS | G10_A11insG | ||
| 76 | KRAS | G12 GLY12 | protein_altering_variant | |
| 77 | KRAS | G12/G13 | protein_altering_variant | |
| 148 | KRAS | G12A GLY12ALA,RS121913529 | NM_004985.4:c.35G>C,NP_004976.2:p.Gly12Ala,NC_000012.11:g.25398284C>G,ENST00000256078.4:c.35G>C | missense_variant |
| 78 | KRAS | G12C GLY12CYS,RS121913530 | NM_004985.4:c.34G>T,NP_004976.2:p.Gly12Cys,NC_000012.11:g.25398285C>A,ENST00000256078.4:c.34G>T | missense_variant |
| 79 | KRAS | G12D GLY12ASP,RS121913529 | NM_004985.4:c.35G>A,NP_004976.2:p.Gly12Asp,NC_000012.11:g.25398284C>T,ENST00000256078.4:c.35G>A | missense_variant |
| 530 | KRAS | G12R GLY12ARG,RS121913530 | NM_004985.4:c.34G>C,NP_004976.2:p.Gly12Arg,NC_000012.11:g.25398285C>G,ENST00000256078.4:c.34G>C | missense_variant |
| 913 | KRAS | G12S RS121913530,GLY12SER | NM_004985.4:c.34G>A,NP_004976.2:p.Gly12Ser,NC_000012.11:g.25398285C>T,ENST00000256078.4:c.34G>A | missense_variant |
| 425 | KRAS | G12V GLY12VAL,RS121913529 | NM_004985.4:c.35G>T,NP_004976.2:p.Gly12Val,NC_000012.11:g.25398284C>A,ENST00000256078.4:c.35G>T | missense_variant |
| 80 | KRAS | G13 GLY13 | missense_variant,inframe_insertion | |
| 81 | KRAS | G13D GLY13ASP,RS112445441 | NM_033360.3:c.38G>A,NP_004976.2:p.Gly13Asp,NC_000012.11:g.25398281C>T,ENST00000256078.4:c.38G>A | missense_variant |
| 1517 | KRAS | G13V RS397517040,GLY13VAL | NC_000012.11:g.25398280_25398281delinsAA,ENST00000256078.4:c.38_39delinsTT,NM_004985.4:c.38_39delinsTT,NP_004976.2:p.Gly13Val | missense_variant |
| 336 | KRAS | Mutation | protein_altering_variant | |
| 479 | KRAS | Q22* Q22X,GLN22TER | NC_000012.11:g.25398255G>A,ENST00000256078.4:c.64C>T,NM_004985.4:c.64C>T,NP_004976.2:p.Gln22Ter | stop_gained |
| 203 | KRAS | Q61 GLN61 | protein_altering_variant | |
| 907 | KRAS | Q61H RS17851045,GLN61HIS | NM_004985.4:c.183A>C,NP_004976.2:p.Gln61His,NC_000012.11:g.25380275T>G,ENST00000256078.4:c.183A>C | missense_variant |