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) |
|---|---|---|---|---|
| 1970 | VHL | V130L (c.388G>C) C.388G>C,VAL130LEU,RS104893830 | NM_000551.3:c.388G>C,NP_000542.1:p.Val130Leu,NC_000003.11:g.10188245G>C,ENST00000256474.2:c.388G>C | missense_variant |
| 1909 | VHL | V155E (c.464T>A) C.464T>A,VAL155GLU | ENST00000256474.2:c.464T>A,NC_000003.11:g.10191471T>A,NM_000551.3:c.464T>A,NP_000542.1:p.Val155Glu | missense_variant |
| 1934 | VHL | V155G (c.464T>G) C.464T>G,VAL155GLY | ENST00000256474.2:c.464T>G,NC_000003.11:g.10191471T>G,NM_000551.3:c.464T>G,NP_000542.1:p.Val155Gly | missense_variant |
| 2046 | VHL | V155L (c.463G>C) | ||
| 2437 | VHL | V166A (c.497T>C) VAL166ALA | NC_000003.11:g.10191504T>C,NM_000551.3:c.497T>C,NP_000542.1:p.Val166Ala,ENST00000256474.2:c.497T>C | missense_variant |
| 1775 | VHL | V166D (c.497T>A) C.497T>A,VAL166ASP | ENST00000256474.2:c.497T>A,NC_000003.11:g.10191504T>A,NM_000551.3:c.497T>A,NP_000542.1:p.Val166Asp | missense_variant |
| 1825 | VHL | V166F (c.496G>T) C.496G>T,VAL166PHE,RS104893825 | NM_000551.3:c.496G>T,NP_000542.1:p.Val166Phe,NC_000003.11:g.10191503G>T,ENST00000256474.2:c.496G>T | missense_variant |
| 1826 | VHL | V170D (c.509T>A) C.509T>A,VAL170ASP | ENST00000256474.2:c.509T>A,NC_000003.11:g.10191516T>A,NM_000551.3:c.509T>A,NP_000542.1:p.Val170Asp | missense_variant |
| 1806 | VHL | V170F (c.508G>T) C.508G>T,VAL170PHE | ENST00000256474.2:c.508G>T,NC_000003.11:g.10191515G>T,NM_000551.3:c.508G>T,NP_000542.1:p.Val170Phe | missense_variant |
| 1935 | VHL | V170G (c.509T>G) C.509T>G,VAL170GLY | ENST00000256474.2:c.509T>G,NC_000003.11:g.10191516T>G,NM_000551.3:c.509T>G,NP_000542.1:p.Val170Gly | missense_variant |
| 1847 | VHL | V181fs (c.540_543del) VAL181FS,C.540_543DELCGTC,RS869025664 | NC_000003.11:g.10191547_10191550del,NC_000003.12:g.10149863_10149866del,NM_000551.3:c.540_543del,NP_000542.1:p.Val181fs | frameshift_truncation,minus_1_frameshift_variant |
| 1977 | VHL | V194fs (c.581_582del) C.579_580DELTG,VAL194FSX39,C.581_582DELTG,V153FS,V194FS (C.581_582DELTG) | ENST00000256474.2:c.579_580delTG | minus_2_frameshift_variant |
| 3184 | VHL | V62Cfs*5 (c.180del) | ||
| 2447 | VHL | V66Gfs*89 (c.197_209del) | ||
| 2099 | VHL | V66del (c.197_220del) 197DEL24 | inframe_deletion | |
| 1999 | VHL | V74G (c.221T>G) C.221T>G,VAL74GLY,RS5030803 | ENST00000256474.2:c.221T>G,NM_000551.3:c.221T>G,NP_000542.1:p.Val74Gly,NC_000003.11:g.10183752T>G | missense_variant |
| 1815 | VHL | V84L (c.250G>T) C.250G>T,VAL84LEU,RS5030827 | NM_000551.3:c.250G>T,NP_000542.1:p.Val84Leu,NC_000003.11:g.10183781G>T,ENST00000256474.2:c.250G>T | missense_variant |
| 2101 | VHL | V84M (c.250G>A) C.250G>A,VAL84MET,RS5030827 | NM_000551.3:c.250G>A,NP_000542.1:p.Val84Met,NC_000003.11:g.10183781G>A,ENST00000256474.2:c.250G>A | missense_variant |
| 3741 | VHL | V87fs (c.255_256insC) | ||
| 2432 | VHL | V87fs (c.259_260insA) C.259_260INSA,VAL87FS,V87DFS*45 | ENST00000256474.2:c.259_260insA,NC_000003.11:g.10183790_10183791insA,NM_000551.3:c.259_260insA,NP_000542.1:p.Val87AspfsTer?,NC_000003.12:g.10142106_10142107insA | plus_1_frameshift_variant,frameshift_truncation |
| 1767 | VHL | W117C (c.351G>T) C.351G>T,TRP117CYS,RS727504215 | NM_000551.3:c.351G>T,NP_000542.1:p.Trp117Cys,NC_000003.11:g.10188208G>T,ENST00000256474.2:c.351G>T | missense_variant |
| 2027 | VHL | W117fs (c.349dup) TRP117LEUFS,C.349DUPT | NC_000003.11:g.10188206dup,ENST00000256474.2:c.349dupT,NM_000551.3:c.349dup,NP_000542.1:p.cTrp117LeufsTer15 | plus_1_frameshift_variant,frameshift_truncation |
| 1294 | VHL | W8* (c.24G>A) TRP8X,TRP8STOP,C.24G>A | NM_000551.3:c.24G>A,ENST00000256474.2:c.24G>A,NC_000003.11:g.10183555G>A,NP_000542.1:p.Trp8Ter | stop_gained |
| 2151 | VHL | W88* (c.263G>A) W88X,TRP88TER,C.263G>A,RS119103277 | NM_000551.3:c.263G>A,NP_000542.1:p.Trp88Ter,NC_000003.11:g.10183794G>A,ENST00000256474.2:c.263G>A | stop_gained |
| 1908 | VHL | W88* (c.264G>A) C.264G>A,W88X,TRP88TER | ENST00000256474.2:c.264G>A,NP_000542.1:p.Trp88Ter,NC_000003.11:g.10183795G>A,NM_000551.3:c.264G>A | stop_gained |
| 2039 | VHL | W88FS (c.263_265delGGCinsTT) C.263_265DELGGCINSTT,TRP88FS | ENST00000256474.2:c.263_265delGGCinsTT,NC_000003.11:g.10183794_10183796delinsTT,NM_000551.3:c.263_265delinsTT,NP_000542.1:p.Trp88PhefsTer? | frameshift_variant,delins |
| 1761 | VHL | W88R (c.262T>A) C.262T>A,TRP88ARG,RS1553619431 | ENST00000256474.2:c.262T>A,NP_000542.1:p.Trp88Arg,NC_000003.11:g.10183793T>A,NM_000551.3:c.262T>A | missense_variant |
| 2056 | VHL | W88R (c.262T>C) TRP88ARG,C.262T>C,RS1553619431 | ENST00000256474.2:c.262T>C,NC_000003.11:g.10183793T>C,NM_000551.3:c.262T>C,NP_000542.1:p.Trp88Arg | missense_variant |
| 1966 | VHL | W88S (c.263G>C) C.263G>C,TRP88SER,RS119103277 | NM_000551.3:c.263G>C,NP_000542.1:p.Trp88Ser,NC_000003.11:g.10183794G>C,ENST00000256474.2:c.263G>C | missense_variant |
| 2299 | VHL | W88fs (c.261dup) C.261DUP,C.261INSA,TRP88METFSTER44,W88MFS*44 | NC_000003.11:g.10183792dup,NM_000551.3:c.261dup,NP_000542.1:p.Trp88MetfsTer44,ENST00000256474.3:c.261dup,NC_000003.12:g.10142108dup | plus_1_frameshift_variant,frameshift_truncation |
| 1766 | VHL | Y112* (c.336C>A) C.336C>A,Y112X,TYR112TER | ENST00000256474.2:c.336C>A,NC_000003.11:g.10183867C>A,NM_000551.3:c.336C>A,NP_000542.1:p.Tyr112Ter | stop_gained |
| 1865 | VHL | Y112H (c.334T>C) C.334T>C,TYR112HIS,RS104893824 | NM_000551.3:c.334T>C,NP_000542.1:p.Tyr112His,NC_000003.11:g.10183865T>C,ENST00000256474.2:c.334T>C | missense_variant |
| 1968 | VHL | Y156* (c.468T>G) C.468T>G,Y156X,TYR156TER | ENST00000256474.2:c.468T>G,NC_000003.11:g.10191475T>G,NM_000551.3:c.468T>G,NP_000542.1:p.Tyr156Ter | stop_gained |
| 1946 | VHL | Y156C (c.467A>G) C.467A>G,TYR156CYS,RS397516441 | NM_000551.3:c.467A>G,NP_000542.1:p.Tyr156Cys,NC_000003.11:g.10191474A>G,ENST00000256474.2:c.467A>G | missense_variant |
| 1967 | VHL | Y156D (c.466T>G) C.466T>G,TYR156ASP | ENST00000256474.2:c.466T>G,NC_000003.11:g.10191473T>G,NM_000551.3:c.466T>G,NP_000542.1:p.Tyr156Asp | missense_variant |
| 2013 | VHL | Y156N (c.466T>A) C.466T>A,TYR156ASN | ENST00000256474.2:c.466T>A,NC_000003.11:g.10191473T>A,NM_000551.3:c.466T>A,NP_000542.1:p.Tyr156Asn | missense_variant |
| 1932 | VHL | Y175* (c.525C>A) Y175X,TYR175TER,C.525C>A | ENST00000256474.2:c.525C>A,NP_000542.1:p.Tyr175Ter,NC_000003.11:g.10191532C>A,NM_000551.3:c.525C>A | stop_gained |
| 1969 | VHL | Y175* (c.525C>G) C.525C>G,Y175X,TYR175TER,RS5030835 | ENST00000256474.2:c.525C>G,NC_000003.11:g.10191532C>G,NM_000551.3:c.525C>G,NP_000542.1:p.Tyr175Ter | stop_gained |
| 2138 | VHL | Y175* (c.525delC) TYR175FS,C.525DELC | ENST00000256474.2:c.525delC,NP_000542.1:p.Tyr175Ter,NC_000003.11:g.10191532del,NM_000551.3:c.525del | frameshift_truncation |
| 2067 | VHL | Y175C (c.524A>G) C.524A>G,TYR175CYS,RS193922613 | NM_000551.3:c.524A>G,NP_000542.1:p.Tyr175Cys,NC_000003.11:g.10191531A>G,ENST00000256474.2:c.524A>G | missense_variant |
| 1846 | VHL | Y175D (c.523T>G) C.523T>G,TYR175ASP | ENST00000256474.2:c.523T>G,NC_000003.11:g.10191530T>G,NM_000551.3:c.523T>G,NP_000542.1:p.Tyr175Asp | missense_variant |
| 2066 | VHL | Y175N (c.523T>A) C.523T>A,TYR175ASN | ENST00000256474.2:c.523T>A,NC_000003.11:g.10191530T>A,NM_000551.3:c.523T>A,NP_000542.1:p.Tyr175Asn | missense_variant |
| 1809 | VHL | Y185* (c.555C>G) C.555C>G,Y185X,TYR185TER,RS864622109 | NM_000551.3:c.555C>G,NP_000542.1:p.Tyr185Ter,NC_000003.11:g.10191562C>G,ENST00000256474.2:c.555C>G | stop_gained |
| 1933 | VHL | Y98C (c.293A>G) C.293A>G,TYR98CYS,RS864321643 | NM_000551.3:c.293A>G,NP_000542.1:p.Tyr98Cys,NC_000003.11:g.10183824A>G,ENST00000256474.2:c.293A>G | missense_variant |
| 852 | VHL | Y98FS (c.291_310del20) C.291_310DEL20,TYR98FS | ENST00000256474.2:c.291_310del,NC_000003.11:g.10183822_10183841del,NM_000551.3:c.291_310del,NP_000542.1:p.Tyr98HisfsTer27 | frameshift_truncation |
| 2160 | VHL | Y98FS (c.291delC) TYR98FS,C.291DELC | ENST00000256474.2:c.291delC,NC_000003.11:g.10183822delC,NM_000551.3:c.291delC,NP_000542.1:p.Tyr98ThrfsTer | frameshift_truncation |
| 1741 | VHL | Y98H (c.292T>C) C.292T>C,TYR98HIS,RS5030809 | NM_000551.3:c.292T>C,NP_000542.1:p.Tyr98His,NC_000003.11:g.10183823T>C,ENST00000256474.2:c.292T>C | missense_variant |
| 2373 | VHL | c.128-?_250+? | ||
| 2435 | VHL | c.341-59_341-14del | ||
| 2431 | VHL | c.−213− ?_463 ?del |