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) |
|---|---|---|---|---|
| 457 | FCGR3A | F212V RS396991,V158F,PHE176VAL | NC_000001.10:g.161514542A>C,NM_001127593.1:c.526T>G,NP_001121065.1:p.Phe176Val,ENST00000367969.3:c.526T>G | missense_variant |
| 447 | FGF13 | CYTOPLASMIC EXPRESSION | ||
| 2784 | FGF19 | Overexpression | ||
| 673 | FGF2 | EXPRESSION | ||
| 630 | FGF3 | Amplification | transcript_amplification | |
| 267 | FGFR1 | Amplification | transcript_amplification | |
| 268 | FGFR1 | Expression | ||
| 2659 | FGFR1 | Internal Duplication | ||
| 515 | FGFR1 | N546K ASN546LYS,RS779707422 | NM_023110.2:c.1638C>A,NP_075598.2:p.Asn546Lys,ENST00000341462.5:c.1638C>A,NC_000008.10:g.38274849G>T | missense_variant |
| 2904 | FGFR1 | Overexpression | ||
| 4500 | FGFR1 | Translocation | ||
| 2743 | FGFR1OP2::FGFR1 | Fusion FGFR1OP2-FGFR1 | transcript_fusion | |
| 629 | FGFR2 | Amplification | transcript_amplification | |
| 511 | FGFR2 | Mutation | gain_of_function_variant,transcript_variant | |
| 545 | FGFR2 | N550K ASN550LYS,N549K,RS121913476 | NC_000010.10:g.123258034A>T,NM_022970.3:c.1650T>A,NP_075259.4:p.Asn550Lys,ENST00000457416.2:c.1650T>A | missense_variant,gain_of_function_variant |
| 2905 | FGFR2 | P253R | ||
| 4612 | FGFR2::? | Fusion FGFR2 Fusion | transcript_fusion | |
| 783 | FGFR2::AHCYL1 | Fusion FGFR2-AHCYL1 | transcript_fusion | |
| 782 | FGFR2::BICC1 | Fusion FGFR2-BICC1 | transcript_fusion | |
| 4626 | FGFR2::CCDC6 | Fusion FGFR2-CCDC6 | transcript_fusion | |
| 52 | FGFR2::OGA | Fusion FGFR2-MGEA5 | transcript_fusion | |
| 54 | FGFR2::TACC3 | Fusion FGFR2-TACC3 | transcript_fusion | |
| 2202 | FGFR2::v | Fusion FGFR2 Fusion | transcript_fusion | |
| 4023 | FGFR3 | A391E ALA391GLU,ALA393GLU,A393E | NC_000004.12:g.1804426C>A,NC_000004.11:g.1806153C>A,ENST00000440486.8:c.1172C>A,NM_000142.5:c.1172C>A,ENSP00000414914.2:p.Ala391Glu,NP_000133.1:p.Ala391Glu | missense_variant |
| 2906 | FGFR3 | Amplification | ||
| 2406 | FGFR3 | G370C GLY370CYS,G372C,GLY372CYS | NC_000004.11:g.1806089G>T,NC_000004.12:g.1804362G>T,NM_000142.5:c.1108G>T,NP_000133.1:p.Gly370Cys,NP_001156685.1:p.Gly372Cys | missense_variant |
| 2405 | FGFR3 | G380R GLY380ARG,G382R,GLY382ARG | NC_000004.11:g.1806119G>C,NC_000004.12:g.1804392G>C,NM_000142.5:c.1138G>C,NP_000133.1:p.Gly380Arg,NP_001156685.1:p.Gly382Arg,NM_001163213.1:c.1144G>C | missense_variant |
| 4030 | FGFR3 | G697C GLY697CYS,GLY699CYS,G699C | NC_000004.12:g.1806604G>T,NC_000004.11:g.1808331G>T,ENST00000440486.8:c.2089G>T,ENSP00000414914.2:p.Gly697Cys ,NM_000142.5:c.2089G>T,NP_000133.1:p.Gly697Cys ,NP_001156685.1:p.Gly699Cys ,NM_001163213.2:c.2095G>T | missense_variant |
| 4024 | FGFR3 | K650D LYS650ASP | NC_000004.12:g.1806162_1806164delinsGAC,NC_000004.11:g.1807889_1807891delinsGAC,ENST00000440486.8:c.1948_1950delinsGAC,ENSP00000414914.2:p.Lys650Asp ,NM_000142.5:c.1948_1950delinsGAC,NP_000133.1:p.Lys650Asp | delins |
| 1400 | FGFR3 | K650E RS78311289,LYS650GLU,K652E,LYS652GLU,TDII | NC_000004.11:g.1807889A>G,NC_000004.12:g.1806162A>G,NM_000142.5:c.1948A>G,NP_000133.1:p.Lys650Glu | missense_variant |
| 4025 | FGFR3 | K650L LYS650LEU | NC_000004.12:g.1806162_1806163delinsCT,NC_000004.11:g.1807889_1807890delinsCT,ENST00000440486.8:c.1948_1949delinsCT,ENSP00000414914.2:p.Lys650Leu,NM_000142.5:c.1948_1949delinsCT,NP_000133.1:p.Lys650Leu | |
| 4013 | FGFR3 | K650M LYS650MET | NC_000004.12:g.1806163A>T,NC_000004.11:g.1807890A>T,ENST00000440486.8:c.1949A>T,ENSP00000414914.2:p.Lys650Met,NM_000142.5:c.1949A>T,NP_000133.1:p.Lys650Met | missense_variant |
| 3695 | FGFR3 | K650N LYS650ASN | NC_000004.12:g.1806164G>C,NC_000004.11:g.1807891G>C,ENST00000440486.8:c.1950G>C,NM_000142.5:c.1950G>C,ENSP00000414914.2:p.Lys650Asn,NP_000133.1:p.Lys650Asn | missense_variant |
| 4019 | FGFR3 | K650Q LYS650GLN,LYS652GLN,LYS538GLN,LYS651GLN,K652Q,K538Q,K651Q | NC_000004.12:g.1806162A>C,NC_000004.11:g.1807889A>C,ENST00000440486.8:c.1948A>C,NM_000142.5:c.1948A>C,ENSP00000414914.2:p.Lys650Gln ,NP_000133.1:p.Lys650Gln | missense_variant |
| 4021 | FGFR3 | K650T LYS650THR,LYS652THR,LYS538THR,LYS651THR,K652T,K538T,K651T | NC_000004.12:g.1806163A>,NC_000004.11:g.1807890A>C,ENST00000440486.8:c.1949A>C,NM_000142.5:c.1949A>C,ENSP00000414914.2:p.Lys650Thr ,NP_000133.1:p.Lys650Thr | missense_variant |
| 827 | FGFR3 | Mutation | ||
| 325 | FGFR3 | Overexpression | ||
| 2403 | FGFR3 | R248C RS121913482,ARG248CYS | NC_000004.11:g.1803564C>T,NM_000142.4:c.742C>T,NP_000133.1:p.Arg248Cys,ENST00000340107.4:c.742C>T | missense_variant |
| 628 | FGFR3 | S249C SER249CYS,RS121913483 | NC_000004.11:g.1803568C>G,NM_000142.4:c.746C>G,NP_000133.1:p.Ser249Cys,ENST00000340107.4c.746C>G | missense_variant |
| 2400 | FGFR3 | V555M VAL443MET,V443M,VAL555MET,ENSP00000414914.2:P.VAL555MET | NM_022965.4:c.1327G>A,NC_000004.11:g.1807494G>A,NM_000142.5:c.1663G>A ,NP_000133.1:p.Val555Met,ENST00000440486.8:c.1663G>A,ENSP00000414914.2:p.Val555Met | missense_variant |
| 2404 | FGFR3 | Y373C TYR375CYS,RS121913485,Y375C,TYR373CYS | NC_000004.11:g.1806099A>G,NM_001163213.1:c.1124A>G,NP_000133.1:p.Tyr373Cys,NM_000142.5:c.1118A>G,NC_000004.12:g.1804372A>G | missense_variant |
| 53 | FGFR3::BAIAP2L1 | Fusion FGFR3-BAIAP2L1 | transcript_fusion | |
| 830 | FGFR3::TACC3 | Fusion FGFR3-TACC3 | transcript_fusion | |
| 574 | FIP1L1::PDGFRA | Fusion FIP1L1-PDGFRA | transcript_fusion | |
| 3727 | FLCN | c.1285dupC HIS429FS | NM_144997.7:c.1285dup,NP_659434.2:p.His429fs | |
| 2619 | FLT3 | Amplification | ||
| 4341 | FLT3 | D593del | ||
| 437 | FLT3 | D835 ASP835 | NC_000013.10:g.28592642C>A | protein_altering_variant |
| 612 | FLT3 | D835H ASP835HIS,RS121913488 | NM_004119.2:c.2503G>C,NP_004110.2:p.Asp835His,ENST00000241453.7:c.2503G>C,NC_000013.10:g.28592642C>G | missense_variant |
| 613 | FLT3 | D835H/Y ASP835HIS,ASP835TYR | NM_004119.2:c.2503G>C,NP_004110.2:p.Asp835His,NM_004119.2:c.2503G>T,NP_004110.2:p.Asp835Tyr,ENST00000241453.7:c.2503G>C,ENST00000241453.7:c.2503G>T | missense_variant |