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) |
|---|---|---|---|---|
| 1960 | VHL | L140fs (c.417_418delTC) | ||
| 1923 | VHL | L153P (c.458T>C) C.458T>C,LEU153PRO | ENST00000256474.2:c.458T>C,NC_000003.11:g.10188315T>C,NM_000551.3:c.458T>C,NP_000542.1:p.Leu153Pro | missense_variant |
| 1802 | VHL | L153fs (c.457delC) C.457DELC,LEU153FS | NM_000551.3:c.457delC | deletion |
| 1738 | VHL | L158P (c.473T>C) C.473T>C,LEU158PRO,RS121913346 | NM_000551.3:c.473T>C,NP_000542.1:p.Leu158Pro,NC_000003.11:g.10191480T>C,ENST00000256474.2:c.473T>C | missense_variant |
| 1803 | VHL | L158V (c.472C>G) C.472C>G,LEU158VAL | ENST00000256474.2:c.472C>G,NC_000003.11:g.10191479C>G,NM_000551.3:c.472C>G,NP_000542.1:p.Leu158Val | missense_variant |
| 1783 | VHL | L158fs (c.471dupT) C.685INST | NC_000003.11:g.10191478dup,NC_000003.12:g.10149794dup,NM_000551.3:c.471dup,NP_000542.1:p.Leu158SerfsTer16,ENST00000256474.2:c.471dup,ENSP00000256474.2:p.Leu158SerfsTer16 | frameshift_variant |
| 2033 | VHL | L163H (c.488T>A) C.488T>A,LEU163HIS | ENST00000256474.2:c.488T>A,NC_000003.11:g.10191495T>A,NM_000551.3:c.488T>A,NP_000542.1:p.Leu163His | missense_variant |
| 1887 | VHL | L169P (c.506T>C) C.506T>C,LEU169PRO,RS1131690962 | NM_000551.3:c.506T>C,NP_000542.1:p.Leu169Pro,NC_000003.11:g.10191513T>C,ENST00000256474.2:c.506T>C | missense_variant |
| 2459 | VHL | L178P (c.532C>T) | ||
| 1748 | VHL | L178P (c.533T>C) C.533T>C,LEU178PRO,RS5030822 | ENST00000256474.2:c.533T>C,NM_000551.3:c.533T>C,NP_000542.1:p.Leu178Pro,NC_000003.11:g.10191540T>C | missense_variant |
| 1997 | VHL | L178Q (c.533T>A) C.533T>A,LEU178GLN,RS5030822 | NC_000003.11:g.10191540T>A,NM_000551.3:c.533T>A,NP_000542.1:p.Leu178Gln,ENST00000256474.2:c.533T>A | missense_variant |
| 1888 | VHL | L178R (c.533T>G) C.533T>G,LEU178ARG | ENST00000256474.2:c.533T>G,NC_000003.11:g.10191540T>G,NM_000551.3:c.533T>G,NP_000542.1:p.Leu178Arg | missense_variant |
| 1776 | VHL | L184P (c.551T>C) C.551T>C,LEU184PRO,RS1064793878 | NM_000551.3:c.551T>C,NP_000542.1:p.Leu184Pro,NC_000003.11:g.10191558T>C,ENST00000256474.2:c.551T>C | missense_variant |
| 1808 | VHL | L184R (c.551T>G) C.551T>G,LEU184ARG | ENST00000256474.2:c.551T>G,NC_000003.11:g.10191558T>G,NM_000551.3:c.551T>G,NP_000542.1:p.Leu184Arg | missense_variant |
| 1852 | VHL | L188P (c.563T>C) C.563T>C,LEU188PRO | ENST00000256474.2:c.563T>C,NC_000003.11:g.10191570T>C,NM_000551.3:c.563T>C,NP_000542.1:p.Leu188Pro | missense_variant |
| 1861 | VHL | L188Q (c.563T>A) C.563T>A,LEU188GLN | ENST00000256474.2:c.563T>A,NC_000003.11:g.10191570T>A,NM_000551.3:c.563T>A,NP_000542.1:p.Leu188Gln | missense_variant |
| 1924 | VHL | L188R (c.563T>G) C.563T>G,LEU188ARG | ENST00000256474.2:c.563T>G,NC_000003.11:g.10191570T>G,NM_000551.3:c.563T>G,NP_000542.1:p.Leu188Arg | missense_variant |
| 1836 | VHL | L188V (c.562C>G) C.562C>G,LEU188VAL,RS5030824 | NM_000551.3:c.562C>G,NP_000542.1:p.Leu188Val,NC_000003.11:g.10191569C>G,ENST00000256474.2:c.562C>G | missense_variant |
| 2139 | VHL | L188fs (c.562delC) C.562DELC,LEU188FS | ENST00000256474.2:c.562delC,NC_000003.11:g.10191569del,NM_000551.3:c.562delC,NP_000542.1:p.Leu188TrpfsTer14 | frameshift_truncation |
| 2010 | VHL | L198Q (c.593T>A) C.593T>A,LEU198GLN | ENST00000256474.2:c.593T>A,NC_000003.11:g.10191600T>A,NM_000551.3:c.593T>A,NP_000542.1:p.Leu198Gln | missense_variant |
| 2020 | VHL | L85P (c.254T>C) C.254T>C,LEU85PRO,RS5030828 | NM_000551.3:c.254T>C,NP_000542.1:p.Leu85Pro,NC_000003.11:g.10183785T>C,ENST00000256474.2:c.254T>C | missense_variant |
| 1793 | VHL | L89P (c.266T>C) C.266T>C,LEU89PRO,RS5030807 | NM_000551.3:c.266T>C,NP_000542.1:p.Leu89Pro,NC_000003.11:g.10183797T>C,ENST00000256474.2:c.266T>C | missense_variant |
| 436 | VHL | Loss | loss_of_function_variant | |
| 159 | VHL | Loss-of-function | loss_of_function_variant | |
| 847 | VHL | M1? (c.1-1_20del21) MET1 LOSS,START LOSS,NO INITIATION,C.1-1_20DEL21 | NP_000542.1:p.0,NP_000542.1:p.Met1?,NM_000551.3:c.1-1_20del21,ENST00000256474.2:c.1-1_20del21,NC_000003.11:g.10183531_10183551del | start_lost |
| 848 | VHL | M1? (c.3G>A) MET1 LOSS,START LOSS,NO INITIATION,C.3G>A,RS578091032 | NP_000542.1:p.0,NP_000542.1:p.Met1?,NM_000551.3:c.3G>A,ENST00000256474.2:c.3G>A,NC_000003.11:g.10183534G>A | start_lost |
| 846 | VHL | M1FS (c.1_17del17) C.1_17DEL17,MET1FS | ENST00000256474.2:c.1_17del17,NC_000003.11:g.10183532_10183548del,NM_000551.3:c.1_17del | start_lost |
| 829 | VHL | M54IFS (c.162_166delGGAGG) C.162_166DELGGAGG,MET54ILEFS | NM_000551.2:c.162_166delGGAGG,NP_000542.1:p.Met54IlefsTer76,NC_000003.11:g.10183693_10183697del,ENST00000256474.2:c.162_166delGGAGG | frameshift_truncation |
| 1889 | VHL | M54fs (c.161dup) M54IFS*78 (C.161DUP),M54FS (C.161INST),M54FS (C.161DUPT) | NC_000003.11:g.10183692dup,NM_000551.3:c.161dup,NP_000542.1:p.Met54IlefsTer?,NC_000003.12:g.10142008dup | plus_1_frameshift_variant,frameshift_truncation |
| 160 | VHL | Mutation | gene_variant,loss_of_function_variant | |
| 1953 | VHL | N131K (c.393C>A) C.393C>A,ASN131LYS,RS1064794272 | NM_000551.3:c.393C>A,NP_000542.1:p.Asn131Lys,NC_000003.11:g.10188250C>A,ENST00000256474.2:c.393C>A | missense_variant |
| 2001 | VHL | N131S (c.392A>G) | NC_000003.11:g.10188249A>G,NC_000003.12:g.10146565A>G,NP_000542.1:p.Asn131Ser | missense_variant |
| 2580 | VHL | N131T (c.392A>C) | NC_000003.11:g.10188249A>C,CM000665.1:g.10188249A>C,NP_000542.1:p.Asn131Thr,NM_000551.3:c.392A>C | non_conservative_missense_variant |
| 1800 | VHL | N131fs (c.390_391del) C.390_391DELTA,ASN131PRO,N131PFS*3,ASN131PROFSTER3 | ENST00000256474.2:c.390_391delTA,NC_000003.11:g.10188247_10188248del,NC_000003.12:g.10146563_10146564del,NM_000551.3:c.390_391delTA,NP_000542.1:p.Asn131fs,NP_000542.1:p.Asn131ProfsTer3 | minus_2_frameshift_variant |
| 2162 | VHL | N150S (c.449A>G) C.449A>G,ASN150SER,RS760184234 | NM_000551.3:c.449A>G,NP_000542.1:p.Asn150Ser,NC_000003.11:g.10188306A>G,ENST00000256474.2:c.449A>G | missense_variant |
| 2029 | VHL | N150fs (c.445_458del) C.445_458DEL,ASN150FS | ENST00000256474.2:c.445_458delGCCAATATCACACT | frameshift_variant |
| 2561 | VHL | N150fs (c.447del) C.446DELC,N150IFS*9,A149FS | NP_000542.1:p.Asn150IlefsTer9,ENST00000256474.2:c.447del,NC_000003.12:g.10146620del,NC_000003.11:g.10188304del,NM_000551.3:c.447del | frameshift_truncation,minus_1_frameshift_variant |
| 3743 | VHL | N150fs (c.448delA) | ||
| 1770 | VHL | N150fs (c.449del) N150IFS*9,N150FS (C.448DELA) | NM_000551.3:c.449del,NP_000542.1:p.Asn150IlefsTer9,NC_000003.12:g.10146622del,NC_000003.11:g.10188306del | frameshift_truncation,minus_1_frameshift_variant |
| 1754 | VHL | N78H (c.232A>C) C.232A>C,ASN78HIS | ENST00000256474.2:c.232A>C,NC_000003.11:g.10183763A>C,NM_000551.3:c.232A>C,NP_000542.1:p.Asn78His | missense_variant |
| 2037 | VHL | N78I (c.233A>T) C.233A>T,ASN78ILE,RS5030804 | NM_000551.3:c.233A>T,NP_000542.1:p.Asn78Ile,NC_000003.11:g.10183764A>T,ENST00000256474.2:c.233A>T | missense_variant |
| 1755 | VHL | N78S (c.233A>G) C.233A>G,ASN78SER,RS5030804 | NM_000551.3:c.233A>G,NP_000542.1:p.Asn78Ser,NC_000003.11:g.10183764A>G,ENST00000256474.2:c.233A>G | missense_variant |
| 1756 | VHL | N78T (c.233A>C) C.233A>C,ASN78THR,RS5030804 | NM_000551.3:c.233A>C,NP_000542.1:p.Asn78Thr,NC_000003.11:g.10183764A>C,ENST00000256474.2:c.233A>C | missense_variant |
| 849 | VHL | N7D (c.19A>G) ASN7ASP,C.19A>G,RS1311403806 | NC_000003.11:g.10183550A>G,NM_000551.3:c.19A>G,ENST00000256474.2:c.19A>G,NP_000542.1:c.Asn7Asp | missense_variant |
| 2182 | VHL | Null (Large deletion) | ||
| 2036 | VHL | Null (Partial deletion of Exons 2 & 3) | ||
| 2058 | VHL | P102fs (c.305delC) C.305DELC,PRO102FS | ENST00000256474.2:c.305delC,NC_000003.11:g.10183836del,NM_000551.3:c.305del,NP_000542.1:p.Pro102ArgfsTer? | frameshift_truncation |
| 1795 | VHL | P103FS (c.309_310delTG) C.309_310DELTG,PRO103FS | ENST00000256474.2:c.309_310delTG,NC_000003.11:g.10183840_10183841del,NM_000551.3:c.309_310del,NP_000542.1:p.Gly104HisfsTer27 | frameshift_variant |
| 2440 | VHL | P138R (c.413C>G) C.413C>G,PRO138ARG | ENST00000256474.2:c.413C>G,NC_000003.11:g.10188270C>G,NM_000551.3:c.413C>G,NP_000542.1:p.Pro138Arg | missense_variant |
| 1928 | VHL | P138T (c.412C>A) PRO138THR,C.412C>A | ENST00000256474.2:c.412C>A,NC_000003.11:g.10188269C>A,NM_000551.3:c.412C>A,NP_000542.1:p.Pro138Thr | missense_variant |