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) |
|---|---|---|---|---|
| 752 | MLH1 | A424T ALA424THR,RS377433038 | NM_000249.3:c.1270G>A,NP_000240.1:p.Ala424Thr,ENST00000231790.2:c.1270G>A,NC_000003.11:g.37067359G>A | missense_variant |
| 760 | MLH1 | A681V ALA681VAL,A440V,RS63750864 | NM_000249.3:c.2042C>T,NP_000240.1:p.Ala681Val,ENST00000231790.2:c.2042C>T,NC_000003.11:g.37090447C>T | missense_variant |
| 746 | MLH1 | D667FS ASP667FS | NC_000003.11:g.37090406del,ENST00000231790.2:c.2001del | frameshift_truncation |
| 725 | MLH1 | E13fs GLU13ARGFS,RS63750081,E13FS*3 | NM_000249.3:c.37delG,NP_000240.1:p.Glu13Argfs,ENST00000231790.2:c.37delG,NC_000003.11:g.37035075del | frameshift_truncation,minus_1_frameshift_variant |
| 662 | MLH1 | EXPRESSION | ||
| 730 | MLH1 | G606FS*2 GLY606FS | ENST00000231790.2:c.1816_1817delGG,NC_000003.11:g.37089094_37089095del | frameshift_truncation |
| 759 | MLH1 | G65D GLY65ASP,RS63751465 | NM_000249.3:c.194G>A,NP_000240.1:p.Gly65Asp,ENST00000231790.2:c.194G>A,NC_000003.11:g.37038187G>A | missense_variant |
| 757 | MLH1 | G67R GLY67ARG,RS63750206 | NC_000003.11:g.37038192G>A,NP_000240.1:p.Gly67Arg,ENST00000231790.2:c.199G>A,NM_000249.3:c.199G>A | missense_variant |
| 758 | MLH1 | I68S ILE68SER | ENST00000231790.2:c.203T>G,NC_000003.11:g.37038196T>G | missense_variant |
| 733 | MLH1 | K618DEL RS63751247,LYS618DEL | NC_000003.11:g.37089130_37089132del,ENST00000231790.2:c.1852_1854delAAG,NM_000249.3:c.1852_1854delAAG,NP_000240.1:p.Lys618del | inframe_deletion |
| 4641 | MLH1 | Loss | ||
| 747 | MLH1 | M1L MET1LEU | NC_000003.11:g.37035039A>T,ENST00000231790.2:c.1A>T | missense_variant |
| 769 | MLH1 | M490T MET490THR | ENST00000231790.2:c.1469T>C,NC_000003.11:g.37070334T>C | missense_variant |
| 538 | MLH1 | METHYLATION | ||
| 751 | MLH1 | N551T ASN551THR,RS63750271 | NM_000249.3:c.1652A>C,NP_000240.1:p.Asn551Thr,ENST00000231790.2:c.1652A>C,NC_000003.11:g.37081770A>C | missense_variant |
| 756 | MLH1 | P536FS PRO536FS | NC_000003.11:g.37081726del,ENST00000231790.2:c.1608del | frameshift_truncation |
| 753 | MLH1 | Q149* Q149X,GLN149TER,RS63751302 | NM_000249.3:c.445C>T,NP_000240.1:p.Gln149Ter,ENST00000231790.2:c.445C>T,NC_000003.11:g.37048546C>T | stop_gained |
| 744 | MLH1 | Q426FS GLN426FS | ENST00000231790.2:c.1276delC,NC_000003.11:g.37067365del | frameshift_truncation |
| 741 | MLH1 | R100* ARG100TER,R100X,RS63751221 | NM_000249.3:c.298C>T,NP_000240.1:p.Arg100Ter,ENST00000231790.2:c.298C>T,NC_000003.11:g.37042536C>T | stop_gained |
| 754 | MLH1 | R226* R226X,ARG226TER,R128*,RS63751615 | NM_000249.3:c.676C>T,NP_000240.1:p.Arg226Ter,ENST00000231790.2:c.676C>T,NC_000003.11:g.37053589C>T | stop_gained |
| 749 | MLH1 | R265G ARG265GLY | ENST00000231790.2:c.793C>G,NC_000003.11:g.37058999C>G | missense_variant |
| 735 | MLH1 | R687FS ARG687GLYFS,RS863225381 | NM_000249.3:c.2059delC,NP_000240.1:p.Arg687Glyfs,ENST00000231790.2:c.2059delC,NC_000003.11:g.37090464del | frameshift_variant |
| 743 | MLH1 | T117M THR117MET,RS63750781 | NM_000249.3:c.350C>T,NP_000240.1:p.Thr117Met,ENST00000231790.2:c.350C>T,NC_000003.11:g.37045935C>T | missense_variant |
| 750 | MLH1 | V213FS VAL213FS | ENST00000231790.2:c.638delT,NC_000003.11:g.37053551del | frameshift_truncation |
| 745 | MLH1 | V49A VAL49ALA | ENST00000231790.2:c.146T>C,NC_000003.11:g.37038139T>C | missense_variant |
| 728 | MLH1 | V534R VAL534ARG | ENST00000231790.2:c.1600_1601delinsAG,NC_000003.11:g.37081718_37081719delinsAG | missense_variant |
| 731 | MLH1 | c.790+1G>A RS267607789 | NM_000249.3:c.790+1G>A,NC_000003.11:g.37056036G>A,ENST00000231790.2:c.790+1G>A | splice_donor_variant |
| 5262 | MMP1 | Overexpression | ||
| 487 | MMP2 | SERUM LEVELS | ||
| 488 | MMP9 | SERUM LEVELS | ||
| 4993 | MN1 | Rearrangement | ||
| 4995 | MN1::BEND2 | Fusion MN1-BEND2 | transcript_fusion | |
| 4535 | MN1::ZFTA | Fusion MN1-ZFTA | transcript_fusion | |
| 4999 | MNX1::ETV6 | Fusion MNX1-ETV6 | transcript_fusion | |
| 428 | MRE11 | Frameshift | frameshift_variant | |
| 370 | MRE11 | Loss | loss_of_function_variant | |
| 4018 | MS4A1 | Mutation | ||
| 763 | MSH2 | E28FS | NC_000002.11:g.47630414dupG | frameshift_elongation |
| 773 | MSH2 | E483G GLU483GLY | NC_000002.11:g.47690231A>G,ENST00000233146.2:c.1448A>G | missense_variant |
| 770 | MSH2 | K172* K172X,LYS172TER | ENST00000233146.2:c.514A>T,NC_000002.11:g.47637380A>T | stop_gained |
| 808 | MSH2 | Loss | loss_of_function_variant | |
| 727 | MSH2 | R383* R383X,ARG383TER,RS63749849 | NM_000251.2:c.1147C>T,NP_000242.1:p.Arg383Ter,ENST00000233146.2:c.1147C>T,NC_000002.11:g.47656951C>T | stop_gained |
| 762 | MSH2 | V273FS | ENST00000233146.2:c.818delT,NC_000002.11:g.47641433del | frameshift_variant |
| 765 | MSH6 | I891FS ILE891FS | ENST00000234420.5:c.2672_2673delTC,NC_000002.11:g.48027794_48027795del | frameshift_truncation |
| 809 | MSH6 | LOSS | loss_of_function_variant | |
| 761 | MSH6 | P138T PRO138THR | ENST00000234420.5:c.412C>A,NC_000002.11:g.48018217C>A | missense_variant |
| 776 | MSH6 | R1242C ARG1242CYS,RS587779285 | NM_000179.2:c.3724C>T,NP_000170.1:p.Arg1242Cys,ENST00000234420.5:c.3724C>T,NC_000002.11:g.48033420C>T | missense_variant |
| 767 | MSH6 | R1242H ARG1242HIS,RS63750119 | NM_000179.2:c.3725G>A,NP_000170.1:p.Arg1242His,ENST00000234420.5:c.3725G>A,NC_000002.11:g.48033421G>A | missense_variant |
| 775 | MSH6 | V352I VAL352ILE,RS730881787 | NM_000179.2:c.1054G>A,NP_000170.1:p.Val352Ile,ENST00000234420.5:c.1054G>A,NC_000002.11:g.48026176G>A | missense_variant |
| 4944 | MSI | High MSI-H,Microsatellite Instability High,deficient DNA mismatch repair,dMMR |