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) |
|---|---|---|---|---|
| 1893 | VHL | F91* (c.272_273delinsAA) C.272TC>AA | ||
| 2294 | VHL | F91L (c.273C>G) C.273C>G,PHE91LEU | NC_000003.11:g.10183804C>G,NC_000003.12:g.10142120C>G,NP_000542.1:p.Phe91Leu | missense_variant |
| 2293 | VHL | G104= (c.312C>G) G104G (C.312C>G) | NC_000003.11:g.10183843C>G,NC_000003.12:g.10142159C>G,NP_000542.1:p.Gly104=,NP_001341652.1:p.Gly104= | synonymous_variant |
| 2043 | VHL | G104A (c.311G>C) C.311G>C,GLY104ALA,RS869025630 | NM_000551.3:c.311G>C,NP_000542.1:p.Gly104Ala,NC_000003.11:g.10183842G>C,ENST00000256474.2:c.311G>C | missense_variant |
| 2428 | VHL | G104V (c.311G>T) C.311G>T,GLY104VAL,RS869025630 | ENST00000256474.2:c.311G>T,NM_000551.3:c.311G>T,NP_000542.1:p.Gly104Val,NC_000003.11:g.10183842G>T | missense_variant |
| 1797 | VHL | G114C (c.340G>T) C.340G>T,GLY114CYS | ENST00000256474.2:c.340G>T,NC_000003.11:g.10183871G>T,NM_000551.3:c.340G>T,NP_000542.1:p.Gly114Cys | missense_variant |
| 1857 | VHL | G114R (c.340G>C) C.340G>C,GLY114ARG,RS869025636 | NM_000551.3:c.340G>C,NP_000542.1:p.Gly114Arg,NC_000003.11:g.10183871G>C,ENST00000256474.2:c.340G>C | missense_variant |
| 2026 | VHL | G114S (c.340G>A) C.340G>A,GLY114SER | ENST00000256474.2:c.340G>A,NC_000003.11:g.10183871G>A,NM_000551.3:c.340G>A,NP_000542.1:p.Gly114Ser | missense_variant |
| 2455 | VHL | G114Vfs*45 (c.339delA) | ||
| 2129 | VHL | G114dup (c.342dupGGT) | ||
| 2135 | VHL | G123fs (c.369_375delGACACAC) GLY123FS,C.369_375DELGACACAC | ENST00000256474.2:c.369_375delGACACAC | frameshift_variant |
| 1850 | VHL | G144* (c.430G>T) C.430G>T,G144X,GLY144TER,RS869025650 | NM_000551.3:c.430G>T,NP_000542.1:p.Gly144Ter,NC_000003.11:g.10188287G>T,ENST00000256474.2:c.430G>T | stop_gained |
| 2290 | VHL | G144E (c.431G>A) | ||
| 3247 | VHL | G144fs (c.429_439del) G144FFS*26,C.428_438DEL | NC_000003.12:g.10146602_10146612del,NC_000003.11:g.10188286_10188296del,NM_000551.3:c.429_439del,NP_000542.1:p.Gly144PhefsTer26 | frameshift_truncation,minus_2_frameshift_variant |
| 1949 | VHL | G144fs (c.432insG) | ||
| 2008 | VHL | G93C (c.277G>T) C.277G>T,GLY93CYS,RS5030808 | ENST00000256474.2:c.277G>T,NM_000551.3:c.277G>T,NP_000542.1:p.Gly93Cys,NC_000003.11:g.10183808G>T | missense_variant |
| 1858 | VHL | G93D (c.278G>A) C.278G>A,GLY93ASP,RS1553619440 | ENST00000256474.2:c.278G>A,NC_000003.11:g.10183809G>A,NM_000551.3:c.278G>A,NP_000542.1:p.Gly93Asp | missense_variant |
| 1920 | VHL | G93R (c.277G>C) C.277G>C,GLY93ARG,RS5030808 | NM_000551.3:c.277G>C,NP_000542.1:p.Gly93Arg,NC_000003.11:g.10183808G>C,ENST00000256474.2:c.277G>C | missense_variant |
| 1859 | VHL | G93S (c.277G>A) C.277G>A,GLY93SER,RS5030808 | NM_000551.3:c.277G>A,NP_000542.1:p.Gly93Ser,NC_000003.11:g.10183808G>A,ENST00000256474.2:c.277G>A | missense_variant |
| 2009 | VHL | G93V (c.278G>T) C.278G>T,GLY93VAL | ENST00000256474.2:c.278G>T,NC_000003.11:g.10183809G>T,NM_000551.3:c.278G>T,NP_000542.1:p.Gly93Val | missense_variant |
| 2097 | VHL | G93_Y98del (c.275_292del) D92_Y98DEL | frameshift_variant | |
| 1885 | VHL | H115P (c.344A>C) C.344A>C,HIS115PRO,RS5030812 | ENST00000256474.2:c.344A>C,NC_000003.11:g.10188201A>C,NM_000551.3:c.344A>C,NP_000542.1:p.His115Pro | missense_variant |
| 1742 | VHL | H115Q (c.345C>A) C.345C>A,HIS115GLN,RS864622646 | ENST00000256474.2:c.345C>A,NP_000542.1:p.His115Gln,NC_000003.11:g.10188202C>A,NM_000551.3:c.345C>A | missense_variant |
| 1957 | VHL | H115Q (c.345C>G) HIS115GLN,C.345C>G,RS864622646 | ENST00000256474.2:c.345C>G,NC_000003.11:g.10188202C>G,NM_000551.3:c.345C>G,NP_000542.1:p.His115Gln | missense_variant |
| 2000 | VHL | H115R (c.344A>G) C.344A>G,HIS115ARG,RS5030812 | ENST00000256474.2:c.344A>G,NC_000003.11:g.10188201A>G,NM_000551.3:c.344A>G,NP_000542.1:p.His115Arg | missense_variant |
| 1921 | VHL | H115Y (c.343C>T) C.343C>T,HIS115TYR,RS5030811 | ENST00000256474.2:c.343C>T,NC_000003.11:g.10188200C>T,NM_000551.3:c.343C>T,NP_000542.1:p.His115Tyr | missense_variant |
| 2057 | VHL | H115fs (c.344del) C.344DELA,HIS115FS,RS1553619937,HIS115PROFSTER44 (C.344DEL),H115FS (C.344DELA),H115PFS*44 (C.344DEL) | NC_000003.11:g.10188201del,NM_000551.3:c.344delA,ENST00000256474.2:c.344del,NP_000542.1:p.His115ProfsTer44 | frameshift_truncation,minus_1_frameshift_variant |
| 2136 | VHL | H125fs (c.374insA) | ||
| 1958 | VHL | H191FS (c.571delC) C.571DELC,HIS191FS | ENST00000256474.2:c.571delC,NC_000003.11:g.10191578del,NM_000551.3:c.571delC,NP_000542.1:p.His191ThrfsTer11 | frameshift_truncation |
| 2150 | VHL | I151F (c.451A>T) C.451A>T,ILE151PHE | ENST00000256474.2:c.451A>T,NC_000003.11:g.10188308A>T,NM_000551.3:c.451A>T,NP_000542.1:p.Ile151Phe | missense_variant |
| 2030 | VHL | I151M (c.453C>G) C.453C>G,ILE151MET | ENST00000256474.2:c.453C>G,NC_000003.11:g.10188310C>G,NM_000551.3:c.453C>G,NP_000542.1:p.Ile151Met | missense_variant |
| 1871 | VHL | I151T (c.452T>C) C.452T>C,ILE151THR,RS869025655 | NM_000551.3:c.452T>C,NP_000542.1:p.Ile151Thr,NC_000003.11:g.10188309T>C,ENST00000256474.2:c.452T>C | missense_variant |
| 1807 | VHL | I180V (c.538A>G) C.538A>G,ILE180VAL,RS377715747 | NM_000551.3:c.538A>G,NP_000542.1:p.Ile180Val,NC_000003.11:g.10191545A>G,ENST00000256474.2:c.538A>G | missense_variant |
| 2134 | VHL | Intronic deletion (c.341-13delCGTTTCCAACAATTTCTCGGTGT) | ||
| 1872 | VHL | K159fs (c.473dup) C.473INST,C.473DUPT | NM_000551.3:c.473dup,NP_000542.1:p.Lys159GlufsTer15,ENST00000256474.2:c.473dup,ENSP00000256474.2:p.Lys159GlufsTer15,NC_000003.11:g.10191480dup,NC_000003.12:g.10149796dup | frameshift_variant |
| 2137 | VHL | K159fs (c.474_476delGAAinsC) C.474_476DELGAAINSC,LEU158FS,LYS159FS,K159FS | ENST00000256474.2:c.474_476delGAAinsC | frameshift_variant |
| 2040 | VHL | K159fs (c.477_478insCA) LYS159FS,C.477_478INSCA | ENST00000256474.2:c.477_478insCA | frameshift_variant |
| 1913 | VHL | K196* (c.586A>T) C.586A>T,K196X,LYS196TER,RS281860296 | NM_000551.3:c.586A>T,NP_000542.1:p.Lys196Ter,NC_000003.11:g.10191593A>T,ENST00000256474.2:c.586A>T | stop_gained |
| 2140 | VHL | K196fs (c.584_585delAG) C.584_585DELAG,GLN195FS | ENST00000256474.2:c.584_585delAG | frameshift_variant |
| 1838 | VHL | L101G (c.301_302delinsGG) C.301_302CT>GG | NM_000551.3:c.301_302delinsGG,NP_000542.1:p.Leu101Gly,ENST00000256474.2:c.301_302delinsGG,ENSP00000256474.2:p.Leu101Gly,NC_000003.11:g.10183832_10183833delinsGG,NC_000003.12:g.10142148_10142149delinsGG | delins |
| 1820 | VHL | L116V (c.346C>G) C.346C>G,LEU116VAL | ENST00000256474.2:c.346C>G,NC_000003.11:g.10188203C>G,NM_000551.3:c.346C>G,NP_000542.1:p.Leu116Val | missense_variant |
| 1798 | VHL | L118P (c.353T>C) C.353T>C,LEU118PRO,RS5030830 | ENST00000256474.2:c.353T>C,NM_000551.3:c.353T>C,NP_000542.1:p.Leu118Pro,NC_000003.11:g.10188210T>C | missense_variant |
| 1841 | VHL | L118fs (c.352_353insA) LEU118FS,RS869025641 | NC_000003.11:g.10188209_10188210insA,NC_000003.12:g.10146525_10146526insA,NM_000551.3:c.352_353insA,NP_000542.1:p.Leu118fs | plus_1_frameshift_variant |
| 3066 | VHL | L128F (c.382C>T) | missense_variant | |
| 1886 | VHL | L128R (c.383T>G) C.383T>G,LEU128ARG | ENST00000256474.2:c.383T>G,NC_000003.11:g.10188240T>G,NM_000551.3:c.383T>G,NP_000542.1:p.Leu128Arg | missense_variant |
| 2508 | VHL | L129P (c.386T>C) L129P (C.386T>G) | ENST00000256474.2:c.386T>C,NC_000003.11:g.10188243T>C,NM_000551.3:c.386T>C,NP_000542.1:p.Leu129Pro,ENSP00000256474.2:p.Leu129Pro,NC_000003.12:g.10146559T>C | missense_variant |
| 1768 | VHL | L129Q (c.386insAGA) | ||
| 1996 | VHL | L129fs (c.384delT) C.384DELT,LEU129FS | ENST00000256474.2:c.384delT | frameshift_variant |
| 1769 | VHL | L135* (c.404T>A) C.404T>A,L135X,LEU135TER | ENST00000256474.2:c.404T>A,NC_000003.11:g.10188261T>A,NM_000551.3:c.404T>A,NP_000542.1:p.Leu135Ter | stop_gained |
| 1906 | VHL | L135fs (c.404del) C.404DELT,LEU135FS,L135Y*24 | NC_000003.11:g.10188261del,NP_000542.1:p.Leu135TyrfsTer24,ENST00000256474.2:c.404del,NM_000551.3:c.404del,NC_000003.12:g.10146577del | frameshift_truncation,minus_1_frameshift_variant |