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) |
|---|---|---|---|---|
| 2023 | VHL | A149fs (c.449del14-nt) | ||
| 771 | VHL | A56FS (c.164_165insG) 164INSG,C.164_165INSG,377_378INSG | NP_000542.1:p.Ala56fs,NP_000542.1:p.Ala56GlyfsTer74,NM_000551.2:c.164_165insG,NC_000003.11:g.10183695_10183696insG,NC_000003.11:g.10183697dupG | frameshift_truncation |
| 2265 | VHL | A56_P59del (c.166_178del) | ||
| 793 | VHL | A56fs (c.164_165insA) 165INSA,C.164_165INSA | NP_000542.1:p.Ala56fs,NP_000542.1:p.Ala56GlyfsTer74,NM_000551.2:c.164_165insA,NC_000003.11:g.10183695_10183696insA,NC_000003.11:g.10183695dupA,NC_000003.12:g.10142011dup | frameshift_truncation |
| 1785 | VHL | A56fs (c.166_167insA) L15409.1:380INSA,380INSA | NC_000003.11:g.10183697_10183698insA,NC_000003.12:g.10142013_10142014insA,NM_000551.3:c.166_167insA,NP_000542.1:p.Ala56AspfsTer?,ENST00000256474.2:c.166_167insA | frameshift_truncation |
| 2144 | VHL | A56fs (c.166dup) C.165DUP,C.165_166DUPG,A56GFS*76 (C.166DUP) | NP_000542.1:p.Ala56fs,NC_000003.11:g.10183697dup,NC_000003.12:g.10142013dup,NM_000551.3:c.166dup | plus_1_frameshift_variant |
| 1773 | VHL | C162F (c.485G>T) C.485G>T,CYS162PHE,RS397516444 | NM_000551.3:c.485G>T,NP_000542.1:p.Cys162Phe,NC_000003.11:g.10191492G>T,ENST00000256474.2:c.485G>T | missense_variant |
| 1772 | VHL | C162R (c.484T>C) RS1553620313,C.484T>C,CYS162ARG | ENST00000256474.2:c.484T>C,NM_000551.3:c.484T>C,NC_000003.11:g.10191491T>C,NP_000542.1:p.Cys162Arg | missense_variant |
| 1774 | VHL | C162W (c.486C>G) C.486C>G,CYS162TRP,RS869025662 | NM_000551.3:c.486C>G,NP_000542.1:p.Cys162Trp,NC_000003.11:g.10191493C>G,ENST00000256474.2:c.486C>G | missense_variant |
| 1824 | VHL | C162Y (c.485G>A) C.485G>A,CYS162TYR,RS397516444 | NM_000551.3:c.485G>A,NP_000542.1:p.Cys162Tyr,NC_000003.11:g.10191492G>A,ENST00000256474.2:c.485G>A | missense_variant |
| 2035 | VHL | C162fs (c.483del) C.483DELA,CYS162FS,C162AFS*8 | NC_000003.11:g.10191490del,NP_000542.1:p.Cys162AlafsTer8,ENST00000256474.2:c.483del,NM_000551.3:c.483del,NC_000003.12:g.10149806del | frameshift_truncation,minus_1_frameshift_variant |
| 3096 | VHL | C77_N78insL (c.230_231insTCT) 77INSL | NC_000003.12:g.10142077_10142078insTCT,NC_000003.11:g.10183761_10183762insTCT,NM_000551.3:c.230_231insTCT,NP_000542.1:p.Cys77_Asn78insLeu | disruptive_inframe_insertion |
| 2132 | VHL | C77fs (c.228dup) 440_441INSC,C.227_228INSC,F76FS,C.227INSC | NC_000003.11:g.10183759dup,NC_000003.12:g.10142075dup,NM_000551.3:c.228dup,ENST00000256474.2:c.228dup,NP_000542.1:p.Cys77LeufsTer?,ENSP00000256474.2:p.Cys77LeufsTer? | |
| 3245 | VHL | C77fs (c.230del) | ||
| 1813 | VHL | D121G (c.362A>G) C.362A>G,ASP121GLY,RS5030832 | NM_000551.3:c.362A>G,NP_000542.1:p.Asp121Gly,NC_000003.11:g.10188219A>G,ENST00000256474.2:c.362A>G | missense_variant |
| 2553 | VHL | D121_A122del (c.361_366del) | ||
| 1918 | VHL | D126FS (c.375_376insC) C.375_376INSC,ASP126FS | ENST00000256474.2:c.375_376insC | inframe_insertion |
| 1844 | VHL | D143fs (c.430delG) | ||
| 2141 | VHL | D197FS (c.589delG) C.589DELG,ASP197FS | ENST00000256474.2:c.589delG,NC_000003.11:g.10191596del,NM_000551.3:c.589del,NP_000542.1:p.Asp197ThrfsTer5 | frameshift_truncation |
| 2449 | VHL | D92G (c.275A>G) C.275A>G,ASP92GLY | ENST00000256474.2:c.275A>G,NC_000003.11:g.10183806A>G,NM_000551.3:c.275A>G,NP_000542.1:p.Asp92Gly | missense_variant |
| 2932 | VHL | Deletion | ||
| 2098 | VHL | E160fs (c.477del) C.475DELA,LYS159FS,E160SFS*10 | ENST00000256474.2:c.475del,NP_000542.1:p.Glu160SerfsTer10,NM_000551.3:c.477del,NC_000003.12:g.10149800del,NC_000003.11:g.10191484del | frameshift_truncation,minus_1_frameshift_variant |
| 1919 | VHL | E160fs (c.479_480delAG) GLU160FS,C.479_480DELAG,G160AFS*13,C.477_478DEL | ENST00000256474.2:c.479_480delAG,NC_000003.11:g.10191486_10191487delAG,NM_000551.3:c.479_480delAG,NP_000542.1:p.Glu160AlafsTer13 | frameshift_truncation,minus_2_frameshift_variant |
| 1777 | VHL | E186* (c.556G>T) C.556G>T,E186X,GLU186TER,RS367545984 | NM_000551.3:c.556G>T,NP_000542.1:p.Glu186Ter,NC_000003.11:g.10191563G>T,ENST00000256474.2:c.556G>T | stop_gained |
| 1778 | VHL | E186K (c.556G>A) C.556G>A,GLU186LYS,RS367545984 | NM_000551.3:c.556G>A,NP_000542.1:p.Glu186Lys,NC_000003.11:g.10191563G>A,ENST00000256474.2:c.556G>A | missense_variant |
| 1869 | VHL | E189fs (c.565del) E189FS (C.565DELG),E189KFS*13 (C.565DEL),GLU189LYSFS*13 | NC_000003.11:g.10191572del,NC_000003.12:g.10149888del,NM_000551.4:c.565del,NP_000542.1:p.Glu189fs | minus_1_frameshift_variant,frameshift_truncation |
| 1733 | VHL | E46* (c.136G>T) GLU46TER,E46X,C.136G>T | ENST00000256474.2:c.136G>T,NC_000003.11:g.10183667G>T,NM_000551.3:c.136G>T,NP_000542.1:p.Glu46Ter | stop_gained |
| 1734 | VHL | E52K (c.154G>A) GLU52LYS,C.154G>A,RS373068386 | NM_000551.3:c.154G>A,NP_000542.1:p.Glu52Lys,NC_000003.11:g.10183685G>A,ENST00000256474.2:c.154G>A | missense_variant |
| 1736 | VHL | E55* (c.163G>T) GLU55TER | ENST00000256474.2:c.163G>T,NC_000003.11:g.10183694G>T,NC_000003.12:g.10142010G>T,NM_000551.4:c.163G>T,NP_000542.1:p.Glu55Ter | stop_gained |
| 794 | VHL | E55= (c.165G>A) GLU55GLU,C.165G>A,RS1553619391,GLU55=,E55E (C.165G>A) | NM_000551.2:c.165G>A,NC_000003.11:g.10183696G>A,ENST00000256474.2:c.165G>A,NP_000542.1:p.Glu55= | synonymous_variant |
| 764 | VHL | E55FS (c.163_164delGA) C.163_164DELGA,GLU55FS | NP_000542.1:p.Glu55fs,NC_000003.11:g.10183694_10183695del,ENST00000256474.2:c.163_164delGA | frameshift_truncation |
| 766 | VHL | E55RfsTer11 (c.163delG) C.163DELG,GLU55ARGFS | NP_000542.1:p.Glu55fs,NP_000542.1:p.Glu55ArgfsTer11,NM_000551.2:c.163delG,NC_000003.11:g.10183694del,ENST00000256474.2:c.163delG | frameshift_truncation |
| 3744 | VHL | E55fs (c.163delG) | ||
| 1834 | VHL | E70* (c.208G>T) C.208G>T,E70X,GLU70TER,RS5030802 | NM_000551.3:c.208G>T,NP_000542.1:p.Glu70Ter,NC_000003.11:g.10183739G>T,ENST00000256474.2:c.208G>T | stop_gained |
| 1956 | VHL | E70K (c.208G>A) C.208G>A,GLU70LYS,RS5030802 | NM_000551.3:c.208G>A,NP_000542.1:p.Glu70Lys,NC_000003.11:g.10183739G>A,ENST00000256474.2:c.208G>A | missense_variant |
| 1794 | VHL | E94* (c.280G>T) C.280G>T,E94X,GLU94TER,RS5030829 | ENST00000256474.2:c.280G>T,NM_198156.2:c.280G>T,NP_000542.1:p.Glu94Ter,NC_000003.11:g.10183811G>T | stop_gained |
| 2127 | VHL | E94FS (c.279delC) C.279DELC,GLY93FS,GLU94FS | ENST00000256474.2:c.279delC,NC_000003.11:g.10183810del,NM_000551.3:c.279del,NP_000542.1:p.Glu94SerfsTer? | frameshift_truncation |
| 1940 | VHL | EXON 2-3 DELETION | ||
| 844 | VHL | Exon 1 Deletion | ENST00000256474.2:c.1-?_340+?del | exon_loss_variant |
| 845 | VHL | Exon 1-2 Deletion | ENST00000256474.2:c.1-?_463+?del | exon_loss_variant |
| 843 | VHL | Exon 1-3 Deletion | ENST00000256474.2:c.1-?_642+?del | exon_loss_variant |
| 1938 | VHL | Exon 2 Deletion | ||
| 1939 | VHL | Exon 3 Deletion c.464-?_642+?del | NM_000551.3:c.464-?_642+?del | |
| 1743 | VHL | F119L (c.357C>G) C.357C>G,PHE119LEU,RS1559428077 | ENST00000256474.2:c.357C>G,NC_000003.11:g.10188214C>G,NM_000551.3:c.357C>G,NP_000542.1:p.Phe119Leu | missense_variant |
| 1814 | VHL | F136C (c.407T>G) C.407T>G,PHE136CYS,RS5030833 | ENST00000256474.2:c.407T>G,NC_000003.11:g.10188264T>G,NM_000551.3:c.407T>G,NP_000542.1:p.Phe136Cys | missense_variant |
| 1801 | VHL | F136S (c.407T>C) C.407T>C,PHE136SER,RS5030833 | ENST00000256474.2:c.407T>C,NC_000003.11:g.10188264T>C,NM_000551.3:c.407T>C,NP_000542.1:p.Phe136Ser | missense_variant |
| 3143 | VHL | F148* (c.443_455delinsA) | ||
| 1835 | VHL | F76S (c.227T>C) PHE76SER,C.277T>C,RS730882033 | ENST00000256474.2:c.227T>C,NC_000003.11:g.10183758T>C,NM_000551.3:c.227T>C,NP_000542.1:p.Phe76Ser | missense_variant |
| 2088 | VHL | F76del (c.227_229del) PHE76DEL,C.224_226DELTCT,C.226_228DELTTC,C.227_229DELTCT,DELPHE76,F76DEL (C.227_229DELTCT) | ENST00000256474.2:c.224_226delTCT,NP_000542.1:p.Phe76del,NC_000003.11:g.10183758_10183760del,NC_000003.12:g.10142074_10142076del,NM_000551.3:c.227_229del,ENSP00000256474.2:p.Phe76del | inframe_deletion |
| 1912 | VHL | F76fs (c.223_224insT) ILE75FS,C.224DUPT,C.223_224INST | NC_000003.11:g.10183755dupT,NM_000551.3:c.224dupT,NP_000542.1:p.F76Lfs*56,NC_000003.12:g.10142071dupT,NP_937799.1:p.Phe76LeufsTer?,NP_001341652.1:p.Phe76LeufsTer? | frameshift_truncation |