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) |
|---|---|---|---|---|
| 4485 | ERBB2 | A775_G776insYVMA | ||
| 2657 | ERBB2 | Activating Mutation | gene_variant,gain_of_function_variant | |
| 306 | ERBB2 | Amplification OVEREXPRESSION | transcript_amplification | |
| 35 | ERBB2 | D769H ASP769HIS,D739H,D754H,ASP739HIS,ASP754HIS,D769H,RS121913468 | NM_001289937.1:c.2305G>C,NP_001276866.1:p.Asp769His,ENST00000269571.5:c.2305G>C,NC_000017.10:g.37880261G>C | missense_variant |
| 36 | ERBB2 | D769Y D739Y,D754Y,RS121913468,ASP769TYR,D769Y,ASP754TYR,ASP739TYR | ENST00000269571.5:c.2305G>T,NC_000017.10:g.37880261G>T,NM_004448.3:c.2305G>T,NP_004439.2:p.Asp769Tyr | missense_variant |
| 2854 | ERBB2 | Exon 20 Insertion | ||
| 38 | ERBB2 | G309A GLY309ALA,GLY279ALA,GLY294ALA,G294A,G279A,RS1057519787 | ENST00000269571.5:c.926G>C,NC_000017.10:g.37868205G>C,NM_004448.3:c.926G>C,NP_004439.2:p.Gly309Ala | missense_variant |
| 816 | ERBB2 | G776L GLY776LEU | ENST00000269571.5:c.2326_2327delinsCT,NC_000017.10:g.37880997_37880998delinsCT,NP_001276866.1:p.Gly776Leu,NM_001289937.1:c.2326_2327delinsCT | missense_variant |
| 4470 | ERBB2 | G776V | ||
| 4726 | ERBB2 | G776_V777delinsVCD | ||
| 4727 | ERBB2 | G776delinsCV | ||
| 4728 | ERBB2 | G776delinsLC | ||
| 4489 | ERBB2 | G776delinsVC | ||
| 4486 | ERBB2 | G778_P780dup | ||
| 4729 | ERBB2 | G778_S779insLPS | ||
| 874 | ERBB2 | H878Y HIS878TYR | ENST00000269571.5:c.2632C>T,NC_000017.10:g.37881440C>T,NM_001289937.1:c.2632C>T,NP_001276866.1:p.His878Tyr | missense_variant |
| 413 | ERBB2 | Kinase Domain Mutation | protein_altering_variant | |
| 4670 | ERBB2 | L755A | ||
| 4673 | ERBB2 | L755M | ||
| 1304 | ERBB2 | L755P LEU755PRO | NP_004439.2:p.Leu755Pro,NM_004448.3:c.2263_2264delinsCC,NC_000017.13:g.37880219_37880220delinsCC,ENST00000269571.5:c.2263_2264delinsCC | missense_variant |
| 39 | ERBB2 | L755S LEU755SER,L725S,L740S | NC_000017.10:g.37880220T>C,ENST00000269571.5:c.2264T>C,NM_004448.3:c.2264T>C,NP_004439.2:p.Leu755Ser | missense_variant |
| 40 | ERBB2 | L755W LEU755TRP,L725W,L740W,RS121913470 | ENST00000269571.5:c.2264T>G,NC_000017.10:g.37880220T>G,NM_004448.3:c.2264T>G,NP_004439.2:p.Leu755Trp | missense_variant |
| 37 | ERBB2 | L755_T759del RS1131692241,LEU755_THR759DEL | ENST00000269571.5:c.2263_2277del,NC_000017.10:g.37880219_37880233del,NP_004439.2:p.Leu755_Thr759del,NM_004448.3:c.2263_2277delTTGAGGGAAAACACA | inframe_deletion |
| 496 | ERBB2 | L866M LEU866MET | ENST00000269571.5:c.2596C>A,NC_000017.10:g.37881404C>A,NM_001289937.1:c.2596C>A,NP_001276866.1:p.Leu866Met | missense_variant |
| 818 | ERBB2 | M774DELINSWLV | NC_000017.11:g.39724738delinsTGGCTGG,NC_000017.10:g.37880991delinsTGGCTGG,NM_004448.4:c.2320delinsTGGCTGG,ENST00000269571.10:c.2320delinsTGGCTGG,NP_004439.2:p.Met774delinsTrpLeuVal,ENSP00000269571.4:p.Met774delinsTrpLeuVal | inframe_indel |
| 666 | ERBB2 | Mutation | missense_variant | |
| 873 | ERBB2 | N857S ASN857SER,N827S,N842S,RS28933370 | NC_000017.10:g.37881378A>G,NP_004439.2:p.Asn857Ser,NM_004448.3:c.2570A>G,ENST00000269571.5:c.2570A>G | missense_variant |
| 875 | ERBB2 | Overexpression | ||
| 5249 | ERBB2 | P780_Y781insGSP | ||
| 42 | ERBB2 | R678Q ARG678GLN,R648Q,R663Q,RS1057519862 | ENST00000269571.5:c.2033G>A,NC_000017.10:g.37879658G>A,NM_004448.3:c.2033G>A,NP_004439.2:p.Arg678Gln | missense_variant |
| 43 | ERBB2 | R896C ARG896CYS,R866C,R881C,RS758222990 | NC_000017.10:g.37881616C>T,ENST00000269571.5:c.2686C>T,NM_004448.3:c.2686C>T,NP_004439.2:p.Arg896Cys | missense_variant |
| 4492 | ERBB2 | S310F | ||
| 497 | ERBB2 | S310F/Y | ENST00000269571.5:c.929C>T,NC_000017.10:g.37868208C>T | missense_variant |
| 416 | ERBB2 | SERUM LEVELS | ||
| 2331 | ERBB2 | T798I THR798ILE | ENST00000269571.5:c.2393C>T,NC_000017.10:g.37881064C>T,NM_001289937.1:c.2393C>T,NP_001276866.1:p.Thr798Ile | missense_variant |
| 1305 | ERBB2 | T798M THR798MET | ENST00000269571.5:c.2393_2394delCAinsTG,NC_000017.10:g.37881064_37881065delinsTG,NM_004448.3:c.2393_2394delinsTG,NP_004439.2:p.Thr798Met | missense_variant |
| 871 | ERBB2 | T862A THR862ALA | ENST00000269571.5:c.2584A>G,NC_000017.10:g.37881392A>G,NM_001289937.1:c.2584A>G,NP_001276866.1:p.Thr862Ala | missense_variant |
| 872 | ERBB2 | V773A VAL773ALA | ENST00000269571.5:c.2318T>C,NC_000017.10:g.37880989T>C,NM_004448.3:c.2318T>C,NP_004439.2:p.Val773Ala | missense_variant |
| 44 | ERBB2 | V777L V747L,V762L,VAL777LEU,RS121913471 | NM_004448.3:c.2329G>T,NP_004439.2:p.Val777Leu,ENST00000269571.5:c.2329G>T,NC_000017.10:g.37881000G>T | missense_variant |
| 45 | ERBB2 | V842I VAL842ILE,V812I,V827I,VAL812ILE,VAL827ILE,RS1057519738 | ENST00000269571.5:c.2524G>A,NM_004448.3:c.2524G>A,NP_004439.2:p.Val842Ile,NC_000017.10:g.37881332G>A | missense_variant |
| 414 | ERBB2 | Y772_A775DUP A775INSYVMA,P.A775_G776INSYVMA,P.E770_A771INSAYVM,TYR772_ALA775DUP,A775_G776INSYVMA,M774INSAYVM | NC_000017.10:g.37880993_37880994insGCTTACGTGATG,NM_001005862.2:c.2224_2235dupTACGTGATGGCT,ENST00000269571.5:c.2314_2325dupTACGTGATGGCT,NC_000017.10:g.37880985_37880996dupTACGTGATGGCT | inframe_insertion |
| 361 | ERBB3 | EXPRESSION | ||
| 703 | ERBB3 | G284R GLY284ARG | NC_000012.11:g.56481922G>A | missense_variant |
| 4630 | ERBB3 | Mutation | ||
| 289 | ERBB3 | Overexpression | ||
| 702 | ERBB3 | R103G ARG103GLY | NC_000012.11:g.56478851C>G | missense_variant |
| 701 | ERBB3 | V104M VAL104MET | NC_000012.11:g.56478854G>A | missense_variant |
| 781 | ERBB3 | V855A VAL855ALA | NC_000012.11:g.56491672T>C,ENST000000267101.3:c.2564T>C | missense_variant |
| 365 | ERBB4 | EXPRESSION | ||
| 310 | ERBB4 | Mutation | gain_of_function_variant,transcript_variant |