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) |
|---|---|---|---|---|
| 350 | SETBP1 | Exon 4 Mutation | exon_variant | |
| 351 | SETBP1 | G870S GLY870SER,RS267607040 | NM_015559.2:c.2608G>A,NP_056374.2:p.Gly870Ser,ENST00000282030.5:c.2608G>A,NC_000018.9:g.42531913G>A | missense_variant |
| 114 | SF3B1 | K666N LYS666ASN,RS377023736 | NM_012433.3:c.1998G>T,NP_036565.2:p.Lys666Asn,ENST00000335508.6:c.1998G>T,NC_000002.11:g.198267359C>A | missense_variant |
| 565 | SF3B1 | K700E LYS700GLU,RS559063155 | NC_000002.11:g.198266834T>C,NM_012433.3:c.2098A>G,NP_036565.2:p.Lys700Glu,ENST00000335508.6:c.2098A>G | missense_variant |
| 215 | SF3B1 | Mutation | protein_altering_variant | |
| 3287 | SFPQ::ABL1 | Fusion SFPQ-ABL1 | transcript_fusion | |
| 693 | SGK1 | Overexpression | ||
| 699 | SH2B3 | RS3184504 ARG262TRP,R262W,TRP262ARG | NC_000012.11:g.111884608T>C,NM_005475.2:c.784T>C,ENST00000341259.2:c.784T>C | missense_variant,polymorphic_sequence_variant |
| 529 | SIRT1 | Overexpression | ||
| 3728 | SLC29A1 | Overexpression | ||
| 2166 | SLC3A2::NRG1 | Fusion SLC3A2-NRG1 | transcript_fusion | |
| 4628 | SLC4A4::ROS1 | Fusion SLC4A4-ROS1 | transcript_fusion | |
| 778 | SLCO1B1 | N130D ASN130ASP,RS2306283 | NC_000012.11:g.21329738A>G | missense_variant |
| 777 | SLCO1B1 | RS4149056 VAL174ALA,V174A | NC_000012.11:g.21331549T>C,NM_006446.4:c.521T>C,NP_006437.3:p.Val174Ala,ENST00000256958.2:c.521T>C | missense_variant,polymorphic_sequence_variant |
| 366 | SLFN11 | EXPRESSION | ||
| 4312 | SMAD2 | S276L | ||
| 646 | SMAD4 | Deletion | transcript_ablation | |
| 533 | SMAD4 | Expression | ||
| 564 | SMAD4 | LOSS | loss_of_function_variant | |
| 216 | SMAD4 | Mutation | loss_of_function_variant,transcript_variant | |
| 2851 | SMAD4 | R361C | ||
| 282 | SMAD4 | Underexpression | ||
| 4319 | SMARCA2 | K755R | ||
| 4318 | SMARCA2 | R1159Q | ||
| 218 | SMARCA4 | INACTIVATING MUTATION | loss_of_function_variant | |
| 2644 | SMARCA4 | Loss | ||
| 217 | SMARCA4 | Mutation | gene_variant,loss_of_function_variant | |
| 349 | SMARCA4 | Underexpression | ||
| 696 | SMARCB1 | Deletion | transcript_ablation | |
| 3659 | SMARCB1 | LOSS OF NUCLEAR PROTEIN EXPRESSION | ||
| 3202 | SMARCB1 | Loss | loss_of_function_variant | |
| 695 | SMARCB1 | Underexpression | ||
| 299 | SMO | D473H ASP473HIS | NM_005631.4:c.1417G>A,NP_005622.1:p.Asp473His,ENST00000249373.3:c.1417G>A,NC_000007.13:g.128849189G>C | missense_variant |
| 1570 | SMO | L412F | NM_005631.4:c.1234C>T,NP_005622.1:p.Leu412Phe,NC_000007.13:g.128846398C>T,ENST00000249373.3:c.1234C>T | missense_variant |
| 300 | SMO | Mutation | coding_transcript_variant | |
| 2975 | SMU1::JAK2 | Fusion SMU1-JAK2 | transcript_fusion | |
| 2976 | SNX29::JAK2 | Fusion SNX29-JAK2 | transcript_fusion | |
| 2678 | SNX2::ABL1 | Fusion SNX2-ABL1 | transcript_fusion | |
| 672 | SOX10 | Loss | loss_of_function_variant | |
| 345 | SPHK1 | OVEREXPRESSION | ||
| 3349 | SPOP | D140G | ||
| 3343 | SPOP | E47K | ||
| 3345 | SPOP | E50K | ||
| 3346 | SPOP | G75R | ||
| 3301 | SPOP | M117I | ||
| 3280 | SPOP | M117V | ||
| 3300 | SPOP | R121Q | ||
| 3347 | SPOP | S80R | ||
| 800 | SQSTM1::NTRK1 | Fusion SQSTM1-NTRK1 | transcript_fusion | |
| 5209 | SRF::v | Fusion SRF Fusion | transcript_fusion |