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) |
|---|---|---|---|---|
| 2055 | VHL | P146fs (c.437del) C.436DELC,PRO146FS,C.437DELC,P146LFS*13 | NC_000003.12:g.10146610del,ENST00000256474.2:c.437del,NC_000003.11:g.10188294del,NM_000551.3:c.437del,NP_000542.1:p.Pro146LeufsTer13 | frameshift_truncation,minus_1_frameshift_variant |
| 1962 | VHL | P154= (c.462A>C) C.462A>C,PRO154PRO,P154P (C.462A>C) | ENST00000256474.2:c.462A>C,NC_000003.11:g.10188319A>C,NM_000551.3:c.462A>C,NP_000542.1:p.Pro154= | synonymous_variant |
| 1782 | VHL | P154L (c.461C>T) C.461C>T,PRO154LEU | ENST00000256474.2:c.461C>T,NC_000003.11:g.10188318C>T,NM_000551.3:c.461C>T,NP_000542.1:p.Pro154Leu | missense_variant |
| 1771 | VHL | P154fs (c.462delA) C.462DELA,PRO154FS | ENST00000256474.2:c.462delA,NC_000003.11:g.10188319del,NM_000551.3:c.462del,NP_000542.1:p.Val155CysfsTer4 | frameshift_truncation |
| 850 | VHL | P25L (c.74C>T) PRO25LEU,C.74C>T,RS35460768 | NM_000551.3:c.74C>T,NP_000542.1:p.Pro25Leu,ENST00000256474.2:c.74C>T,NC_000003.11:g.10183605C>T | missense_variant |
| 2090 | VHL | P40fs (c.118ins) | ||
| 851 | VHL | P59fs (c.173_174insC) PRO59FS,C.173_174INSC | ENST00000256474.2:c.173_174insC,NP_000542.1:p.Pro59AlafsTer73,NM_000551.3:c.173_174insC,NC_000003.11:g.10183704_10183705insC | frameshift_truncation,plus_1_frameshift_variant |
| 1929 | VHL | P59fs (c.176delC) PRO59FS,C.176DELC,P59RFS*8 (C.176DELC) | ENST00000256474.2:c.176delC,NC_000003.11:g.10183707del,NM_000551.3:c.176del,NP_000542.1:p.Pro59ArgfsTer8 | frameshift_truncation,minus_1_frameshift_variant |
| 2145 | VHL | P61FS (c.182_185delCCGT) C.182_185DELCCGT,PRO61FS | ENST00000256474.2:c.182_185delCCGT,NC_000003.11:g.10183713_10183716del,NM_000551.3:c.182_185delCCGT,NP_000542.1:p.Pro61ArgfsTer5 | frameshift_variant |
| 2014 | VHL | P61fs (c.183insC) | ||
| 1955 | VHL | P71fs (c.211insT) | ||
| 1837 | VHL | P81S (c.241C>T) C.241C>T,PRO81SER,RS104893829 | NM_000551.3:c.241C>T,NP_000542.1:p.Pro81Ser,NC_000003.11:g.10183772C>T,ENST00000256474.2:c.241C>T | missense_variant |
| 3298 | VHL | P81S (c.241C>T) and L188V (c.562C>G) | ||
| 1759 | VHL | P86A (c.256C>G) C.256C>G,PRO86ALA,RS398123481 | NM_000551.3:c.256C>G,NP_000542.1:p.Pro86Ala,NC_000003.11:g.10183787C>G,ENST00000256474.2:c.256C>G | missense_variant |
| 1760 | VHL | P86L (c.257C>T) C.257C>T,PRO86LEU,RS730882034 | NM_000551.3:c.257C>T,NP_000542.1:p.Pro86Leu,NC_000003.11:g.10183788C>T,ENST00000256474.2:c.257C>T | missense_variant |
| 1849 | VHL | P86R (c.257C>G) C.257C>G,PRO86ARG,RS730882034 | NM_000551.3:c.257C>G,NP_000542.1:p.Pro86Arg,NC_000003.11:g.10183788C>G,ENST00000256474.2:c.257C>G | missense_variant |
| 1902 | VHL | P86S (c.256C>T) C.256C>T,PRO86SER,RS398123481 | NM_000551.3:c.256C>T,NP_000542.1:p.Pro86Ser,NC_000003.11:g.10183787C>T,ENST00000256474.2:c.256C>T | missense_variant |
| 1758 | VHL | P86fs (c.254_255insC) P86AFS*46 | NC_000003.11:g.10183785_10183786insC,NM_000551.3:c.254_255insC,NC_000003.12:g.10142101_10142102insC,NP_000542.1:p.Pro86fs | plus_1_frameshift_variant,frameshift_truncation |
| 1994 | VHL | Q132* (c.394C>T) C.394C>T,Q132X,GLN132TER,RS5030813 | NM_000551.3:c.394C>T,NP_000542.1:p.Gln132Ter,NC_000003.11:g.10188251C>T,ENST00000256474.2:c.394C>T | stop_gained |
| 2125 | VHL | Q132P (c.395A>C) C.395A>C,GLN132PRO,RS1347416980 | ENST00000256474.2:c.395A>C,NC_000003.11:g.10188252A>C,NM_000551.3:c.395A>C,NP_000542.1:p.Gln132Pro | missense_variant |
| 1883 | VHL | Q145* (c.433C>T) C.433C>T,Q145X,GLN145TER | ENST00000256474.2:c.433C>T,NC_000003.11:g.10188290C>T,NM_000551.3:c.433C>T,NP_000542.1:p.Gln145Ter | stop_gained |
| 1845 | VHL | Q164* (c.490C>T) C.490C>T,Q164X,GLN164TER,RS5030819 | NM_000551.3:c.490C>T,NP_000542.1:p.Gln164Ter,NC_000003.11:g.10191497C>T,ENST00000256474.2:c.490C>T | stop_gained |
| 2079 | VHL | Q164L (c.491A>T) C.491A>T,GLN164LEU | ENST00000256474.2:c.491A>T,NC_000003.11:g.10191498A>T,NM_000551.3:c.491A>T,NP_000542.1:p.Gln164Leu | missense_variant |
| 1856 | VHL | Q164R (c.491A>G) C.491A>G,GLN164ARG,RS267607170 | NM_000551.3:c.491A>G,NP_000542.1:p.Gln164Arg,NC_000003.11:g.10191498A>G,ENST00000256474.2:c.491A>G | missense_variant |
| 1810 | VHL | Q195* (c.583C>T) C.583C>T,Q195X,GLN195TER,RS5030825 | NM_000551.3:c.583C>T,NP_000542.1:p.Gln195Ter,NC_000003.11:g.10191590C>T,ENST00000256474.2:c.583C>T | stop_gained |
| 1752 | VHL | Q73* (c.217C>T) Q73X,C.217C>T,GLN73TER,RS869025619 | NM_000551.3:c.217C>T,NP_000542.1:p.Gln73Ter,NC_000003.11:g.10183748C>T,ENST00000256474.2:c.217C>T | stop_gained |
| 2041 | VHL | Q73FS (c.217delC) C.217DELC,GLN73FS | ENST00000256474.2:c.217delC,NC_000003.11:g.10183748del,NM_000551.3:c.217del,NP_000542.1:p.Gln73ArgfsTer? | frameshift_truncation |
| 2131 | VHL | Q73fs (c.214insGCCC) | ||
| 1848 | VHL | Q96* (c.286C>T) C.286C>T,Q96X,GLN96TER,RS1131690959 | NM_000551.3:c.286C>T,NP_000542.1:p.Gln96Ter,NC_000003.11:g.10183817C>T,ENST00000256474.2:c.286C>T | stop_gained |
| 3246 | VHL | Q96_P97delinsH (c.288_290del) C.288DELGCC,C.288_290DELGCC | NC_000003.12:g.10142135_10142137del,NC_000003.11:g.10183819_10183821del,NM_000551.3:c.288_290del,NP_000542.1:p.Gln96_Pro97delinsHis | disruptive_inframe_deletion |
| 2007 | VHL | R107G (c.319C>G) C.319C>G,ARG107GLY,RS397516440 | NM_000551.3:c.319C>G,NP_000542.1:p.Arg107Gly,NC_000003.11:g.10183850C>G,ENST00000256474.2:c.319C>G | missense_variant |
| 2044 | VHL | R107H (c.320G>A) C.320G>A,ARG107HIS,RS193922609 | NM_000551.3:c.320G>A,NP_000542.1:p.Arg107His,NC_000003.11:g.10183851G>A,ENST00000256474.2:c.320G>A | missense_variant |
| 1840 | VHL | R107P (c.320G>C) C.320G>C,ARG107PRO,RS193922609 | NM_000551.3:c.320G>C,NP_000542.1:p.Arg107Pro,NC_000003.11:g.10183851G>C,ENST00000256474.2:c.320G>C | missense_variant |
| 2021 | VHL | R108dup (c.322_324dup) R107DUP,R108INS (C.324INSCGC) | NC_000003.11:g.10183853_10183855dup,NC_000003.12:g.10142169_10142171dup,NP_000542.1:p.Arg108dup,NM_000551.4:c.322_324dup,NM_000551.3:c.322_324dup | conservative_inframe_insertion |
| 1796 | VHL | R113* (c.337C>T) C.337C>T,R113X,ARG113TER,RS5030810 | NM_000551.3:c.337C>T,NP_000542.1:p.Arg113Ter,NC_000003.11:g.10183868C>T,ENST00000256474.2:c.337C>T | stop_gained |
| 2143 | VHL | R113FS (c.337delC) C.337DELC,ARG113FS | ENST00000256474.2:c.337delC,NC_000003.11:g.10183868delC,NM_000551.3:c.337delC,NP_000542.1:p.Arg113GlufsTer? | frameshift_truncation |
| 1914 | VHL | R120G (c.358A>G) C.358A>G,ARG120GLY,RS869025642 | NM_000551.3:c.358A>G,NP_000542.1:p.Arg120Gly,NC_000003.11:g.10188215A>G,ENST00000256474.2:c.358A>G | missense_variant |
| 3244 | VHL | R120fs (c.358_359insAC) R120NFS*40 | NC_000003.12:g.10146531_10146532insAC,NC_000003.11:g.10188215_10188216insAC,NM_000551.3:c.358_359insAC,NP_000542.1:p.Arg120AsnfsTer? | frameshift_truncation,plus_2_frameshift_variant |
| 1804 | VHL | R161* (c.481C>T) C.481C>T,R161X,ARG161TER,RS5030818 | NM_000551.3:c.481C>T,NP_000542.1:p.Arg161Ter,NC_000003.11:g.10191488C>T,ENST00000256474.2:c.481C>T | missense_variant |
| 2148 | VHL | R161= (c.481C>A) R161R (C.481C>A) | NC_000003.11:g.10191488C>A,NC_000003.12:g.10149804C>A,NP_000542.1:p.Arg161= | synonymous_variant |
| 1915 | VHL | R161G (c.481C>G) C.481C>G,ARG161GLY,RS5030818 | ENST00000256474.2:c.481C>G,NC_000003.11:g.10191488C>G,NM_000551.3:c.481C>G,NP_000542.1:p.Arg161Gly | missense_variant |
| 1855 | VHL | R161P (c.482G>C) C.482G>C,ARG161PRO | ENST00000256474.2:c.482G>C,NC_000003.11:g.10191489G>C,NM_000551.3:c.482G>C,NP_000542.1:p.Arg161Pro | missense_variant |
| 1746 | VHL | R161Q (c.482G>A) C.482G>A,ARG161GLN,RS730882035 | NM_000551.3:c.482G>A,NP_000542.1:p.Arg161Gln,NC_000003.11:g.10191489G>A,ENST00000256474.2:c.482G>A | missense_variant |
| 1916 | VHL | R167L (c.500G>T) RS5030821,C.500G>T,ARG167LEU | NC_000003.11:g.10191507G>T,NM_000551.3:c.500G>T,NP_000542.1:p.Arg167Leu,ENST00000256474.2:c.500G>T | missense_variant |
| 2458 | VHL | R167P (c.500G>C) RS5030821,C.500G>C,ARG167PRO | ENST00000256474.2:c.500G>C,NM_000551.3:c.500G>C,NP_000542.1:p.Arg167Pro,NC_000003.11:g.10191507G>C | missense_variant |
| 1739 | VHL | R167Q (c.500G>A) C.500G>A,ARG167GLN,RS5030821 | NM_000551.3:c.500G>A,NP_000542.1:p.Arg167Gln,NC_000003.11:g.10191507G>A,ENST00000256474.2:c.500G>A | missense_variant |
| 1747 | VHL | R167W (c.499C>T) C.499C>T,ARG167TRP,R126W,RS5030820 | NM_000551.3:c.499C>T,NP_000542.1:p.Arg167Trp,NC_000003.11:g.10191506C>T,ENST00000256474.2:c.499C>T | missense_variant |
| 1779 | VHL | R167fs (c.502insTTGTCCGT) | ||
| 1780 | VHL | R176fs (c.526del) C.526DELA,ARG176FS,RS1559429711,R176GFS*26 (C.526DEL) | ENST00000256474.2:c.526delA,NC_000003.11:g.10191533del,NM_000551.3:c.526del,NP_000542.1:p.Arg176GlyfsTer26 | frameshift_truncation |
| 1827 | VHL | R177* (c.529A>T) C.529A>T,R177X,ARG177TER,RS1559429717 | ENST00000256474.2:c.529A>T,NC_000003.11:g.10191536A>T,NM_000551.3:c.529A>T,NP_000542.1:p.Arg177Ter | stop_gained |