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) |
|---|---|---|---|---|
| 1907 | VHL | R177fs (c.528del) ARG176FS,C.528DELG,R177DFS*25 (C.528DELG),R176FS (C.528DELG),R176FS (C.528DEL) | ENST00000256474.2:c.528delG,NC_000003.11:g.10191535del,NM_000551.3:c.528del,NP_000542.1:p.Arg177AspfsTer25 | frameshift_truncation,minus_1_frameshift_variant |
| 2181 | VHL | R177ins (c.531insCTGAGAGTAAAGCCTGAA) | ||
| 631 | VHL | R200W (c.598C>T) ARG200TRP,C.598C>T,RS28940298 | NM_000551.3:c.598C>T,NP_000542.1:p.Arg200Trp,ENST00000256474.2:c.598C>T,NC_000003.11:g.10191605C>T | missense_variant |
| 1964 | VHL | R60FS (c.179delG) C.179DELG,ARG60FS | ENST00000256474.2:c.179delG | frameshift_truncation |
| 1867 | VHL | R64P (c.191G>C) C.191G>C,ARG64PRO,RS104893826 | NM_000551.3:c.191G>C,NP_000542.1:p.Arg64Pro,NC_000003.11:g.10183722G>C,ENST00000256474.2:c.191G>C | missense_variant |
| 1948 | VHL | R69fs (c.204insG) C.204DUPG | ||
| 1791 | VHL | R79P (c.236G>C) C.236G>C,ARG79PRO | ENST00000256474.2:c.236G>C,NC_000003.11:g.10183767G>C,NM_000551.3:c.236G>C,NP_000542.1:p.Arg79Pro | missense_variant |
| 2448 | VHL | R79_S80del (c.236_241delGCAGTC) | ||
| 1980 | VHL | R82P (c.245G>C) C.245G>C,ARG82PRO,RS794726890 | NM_000551.3:c.245G>C,NP_000542.1:p.Arg82Pro,NC_000003.11:g.10183776G>C,ENST00000256474.2:c.245G>C | missense_variant |
| 2089 | VHL | R82_V84del (c.243_251del) P81DELRVV (C.243_251DELGCGCGTCGT),ARG82_VAL84DEL | NC_000003.11:g.10183774_10183782del,NC_000003.12:g.10142092_10142100del,NM_000551.4:c.245_253del,NP_000542.1:p.Arg82_Val84del | inframe_deletion |
| 2264 | VHL | R82_V84del (c.244_252del) C.244_252DEL,C.245_253DEL | inframe_deletion | |
| 2439 | VHL | Rearrangement | ||
| 1853 | VHL | S111C (c.330_331delinsTT) S111C (C.330_331CA>TT) | NP_000542.1:p.Ser111Cys,NP_001341652.1:p.Ser111Cys,NC_000003.11:g.10183861_10183862delinsTT,NC_000003.12:g.10142177_10142178delinsTT | delins |
| 2045 | VHL | S111C (c.331A>T) SER111CYS,RS1559426203,C.331A>T | NC_000003.11:g.10183862A>T,NM_000551.3:c.331A>T,NP_000542.1:p.Ser111Cys | missense_variant |
| 1762 | VHL | S111FS (c.331delA) C.331DELA,SER111FS | NC_000003.12:g.10142178del,NC_000003.11:g.10183862del,NM_000551.3:c.331del,NM_198156.2:c.331del,NP_937799.1:p.Ser111AlafsTer7,NM_001354723.1:c.331del,NP_001341652.1:p.Ser111AlafsTer6,ENST00000256474.2:c.331del | frameshift_truncation |
| 1763 | VHL | S111N (c.332G>A) C.332G>A,SER111ASN,RS869025631 | NM_000551.3:c.332G>A,NP_000542.1:p.Ser111Asn,NC_000003.11:g.10183863G>A,ENST00000256474.2:c.332G>A | missense_variant |
| 1764 | VHL | S111R (c.333C>G) C.333C>G,SER111ARG,RS765978945 | NM_000551.3:c.333C>G,NP_000542.1:p.Ser111Arg,NC_000003.11:g.10183864C>G,ENST00000256474.2:c.333C>G | missense_variant |
| 1784 | VHL | S183* (c.548C>A) C.548C>A,S183X,SER183TER,RS5030823 | NM_000551.3:c.548C>A,NP_000542.1:p.Ser183Ter,NC_000003.11:g.10191555C>A,ENST00000256474.2:c.548C>A | stop_gained |
| 1811 | VHL | S65* (c.194C>A) C.194C>A,S65X,SER65TER,RS5030826 | NM_000551.3:c.194C>A,NP_000542.1:p.Ser65Ter,NC_000003.11:g.10183725C>A,ENST00000256474.2:c.194C>A | stop_gained |
| 2011 | VHL | S65A (c.193T>G) C.193T>G,SER65ALA,RS869025616 | NM_000551.3:c.193T>G,NP_000542.1:p.Ser65Ala,NC_000003.11:g.10183724T>G,ENST00000256474.2:c.193T>G | missense_variant |
| 2130 | VHL | S65FS (c.194delC) C.194DELC,SER65FS | ENST00000256474.2:c.194delC,NC_000003.11:g.10183725delC,NM_000551.3:c.194delC,NP_000542.1:p.Ser65TrpfsTer2 | frameshift_truncation |
| 1788 | VHL | S65L (c.194C>T) C.194C>T,SER65LEU,RS5030826 | NM_000551.3:c.194C>T,NP_000542.1:p.Ser65Leu,NC_000003.11:g.10183725C>T,ENST00000256474.2:c.194C>T | missense_variant |
| 1903 | VHL | S65P (c.193T>C) C.193T>C,SER65PRO,RS869025616 | ENST00000256474.2:c.193T>C,NC_000003.11:g.10183724T>C,NM_000551.3:c.193T>C,NP_000542.1:p.Ser65Pro | missense_variant |
| 1787 | VHL | S65W (c.194C>G) C.194C>G,SER65TRP,RS5030826 | ENST00000256474.2:c.194C>G,NM_000551.3:c.194C>G,NP_000542.1:p.Ser65Trp,NC_000003.11:g.10183725C>G | missense_variant |
| 1873 | VHL | S68P (c.202T>C) C.202T>C,SER68PRO | ENST00000256474.2:c.202T>C,NC_000003.11:g.10183733T>C,NM_000551.3:c.202T>C,NP_000542.1:p.Ser68Pro | missense_variant |
| 2012 | VHL | S68W (c.203C>G) | NP_000542.1:p.Ser68Trp,NC_000003.11:g.10183734C>G,NC_000003.12:g.10142050C>G,NM_000551.3:c.203C>G | missense_variant |
| 1904 | VHL | S72P (c.214T>C) C.214T>C,SER72PRO,RS869025618 | NM_000551.3:c.214T>C,NP_000542.1:p.Ser72Pro,NC_000003.11:g.10183745T>C,ENST00000256474.2:c.214T>C | missense_variant |
| 1816 | VHL | S72fs (c.214del) C.214DELT,SER72FS,S72FS (C.214DELT) | ENST00000256474.2:c.214delT,NC_000003.12:g.10142061del,NM_000551.4:c.214del,NP_000542.1:p.Ser72ProfsTer?,NC_000003.11:g.10183745del | frameshift_truncation,minus_1_frameshift_variant |
| 1757 | VHL | S80I (c.239G>T) C.239G>T,SER80ILE,RS5030805 | ENST00000256474.2:c.239G>T,NM_000551.3:c.239G>T,NP_000542.1:p.Ser80Ile,NC_000003.11:g.10183770G>T | missense_variant |
| 1874 | VHL | S80N (c.239G>A) C.239G>A,SER80ASN,RS5030805 | ENST00000256474.2:c.239G>A,NC_000003.11:g.10183770G>A,NM_000551.3:c.239G>A,NP_000542.1:p.Ser80Asn | missense_variant |
| 1963 | VHL | S80R (c.238A>C) SER80ARG,C.238A>C,RS786202787 | ENST00000256474.2:c.238A>C,NC_000003.11:g.10183769A>C,NM_000551.3:c.238A>C,NP_000542.1:p.Ser80Arg | missense_variant |
| 1792 | VHL | S80R (c.240T>G) C.240T>G,SER80ARG | ENST00000256474.2:c.240T>G | missense_variant |
| 2511 | VHL | S80fs (c.239del) C.239DELG,SER80ILEFS*79,S80IFS*79 (C.239DELG) | NP_000542.1:p.Ser80IlefsTer,ENST00000256474.2:c.239del,NC_000003.11:g.10183770del,NM_000551.3:c.239del | frameshift_truncation,minus_1_frameshift_variant |
| 2104 | VHL | Splice Region (c.340+5G>C) C.340+5G>C,C.533+5G>C,IVS1+5G>C | NM_000551.3:c.340+5G>C,NC_000003.11:g.10183876G>C,ENST00000256474.2:c.340+5G>C,NP_000542.1:p.?,NC_000003.12:g.10142192G>C | intron_variant |
| 2292 | VHL | Splice Region (c.463+8C>T) | NC_000003.11:g.10188328C>T,ENST00000256474.2:c.463+8C>T,NM_000551.3:c.463+8C>T | splicing_variant |
| 2114 | VHL | Splice Site (c.340+1G>A) C.340+1G>A,C.553+1G>A | NM_000551.3:c.340+1G>A,NC_000003.11:g.10183872G>A,ENST00000256474.2:c.340+1G>A | splice_donor_variant |
| 2133 | VHL | Splice Site (c.341-2A>C) C.341-2A>C | NC_000003.11:g.10188196A>C,NM_000551.3:c.341-2A>C,ENST00000256474.2:c.341-2A>C | splice_acceptor_variant |
| 1998 | VHL | Splice Site (c.463+1G>C) C.463+1G>C,RS869025657 | NM_000551.3:c.463+1G>C,NC_000003.11:g.10188321G>C,ENST00000256474.2:c.463+1G>C | splice_donor_variant |
| 2075 | VHL | Splice Site (c.463+2T>C) C.463+2T>C,RS5030814 | NM_000551.3:c.463+2T>C,NC_000003.11:g.10188322T>C,ENST00000256474.2:c.463+2T>C,NP_000542.1:p.?,NC_000003.12:g.10146638T>C | splice_donor_variant |
| 1974 | VHL | Splice Site (c.464-1G>A) C.464-1G>A,RS5030817 | NM_000551.3:c.464-1G>A,NC_000003.11:g.10191470G>A,ENST00000256474.2:c.464-1G>A | splice_acceptor_variant |
| 2077 | VHL | Splice Site (c.464-1G>C) C.464-1G>C,RS5030817,IVS2-1G>C | NM_000551.3:c.464-1G>C,NC_000003.11:g.10191470G>C,ENST00000256474.2:c.464-1G>C,NP_000542.1:p.=,NC_000003.12:g.10149786G>C | splice_acceptor_variant |
| 1990 | VHL | Splice Site (c.464-1G>T) C.464-1G>T,RS5030817,IVS2-1G>T | NC_000003.11:g.10191470G>T,NM_000551.3:c.464-1G>T,ENST00000256474.2:c.464-1G>T,NC_000003.12:g.10149786G>T,NP_000542.1:p.? | splice_acceptor_variant |
| 2078 | VHL | Splice Site (c.464-2A>G) C.464-2A>G,RS5030816 | NM_000551.3:c.464-2A>G,NC_000003.11:g.10191469A>G,ENST00000256474.2:c.464-2A>G | splice_acceptor_variant |
| 1992 | VHL | Splice Site (c.464-2A>T) C.464-2A>T,RS5030816 | NM_000551.3:c.464-2A>T,NC_000003.11:g.10191469A>T,ENST00000256474.2:c.464-2A>T,NP_000542.1:p.= | splice_acceptor_variant |
| 1839 | VHL | T105P (c.313A>C) C.313A>C,THR105PRO,RS1553619461 | ENST00000256474.2:c.313A>C,NC_000003.11:g.10183844A>C,NM_000551.3:c.313A>C,NP_000542.1:p.Thr105Pro | missense_variant |
| 1843 | VHL | T133fs (c.397del) Q132FS (C.395DELA),T133LFS*26 | NC_000003.11:g.10188254del,NP_000542.1:p.Thr133fs,NC_000003.12:g.10146570del,NM_000551.4:c.397del,NP_000542.1:p.Thr133LeufsTer26 | minus_1_frameshift_variant,frameshift_truncation |
| 2091 | VHL | T152fs (c.455insA) | ||
| 1745 | VHL | T157I (c.470C>T) C.470C>T,THR157ILE,RS869025660 | NM_000551.3:c.470C>T,NP_000542.1:p.Thr157Ile,NC_000003.11:g.10191477C>T,ENST00000256474.2:c.470C>T | missense_variant |
| 2092 | VHL | T157fs (c.472ins) | ||
| 2142 | VHL | T202fs (c.606insA) T202FS (C.606DUPA) |