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)
1169	ATM	A2062V ALA2062VAL	ENST00000278616.4:c.6185C>T,NC_000011.9:g.108186827C>T,NM_000051.3:c.6185C>T,NP_000042.3:p.Ala2062Val	missense_variant
1172	ATM	C2488Y CYS2488TYR,RS774281788	NM_000051.3:c.7463G>A,NP_000042.3:p.Cys2488Tyr,NC_000011.9:g.108201096G>A,ENST00000278616.4:c.7463G>A	missense_variant
1168	ATM	D1682H RS121434217,ASP1682HIS	NM_000051.3:c.5044G>C,NP_000042.3:p.Asp1682His,NC_000011.9:g.108170479G>C,ENST00000278616.4:c.5044G>C	missense_variant
1160	ATM	D1930V M72L,ASP1930VAL,MET72LEU	ENST00000278616.4:c.5789A>T,NC_000011.9:g.108180913A>T,NM_000051.3:c.5789A>T,NP_000042.3:p.Asp1930Val	missense_variant
1162	ATM	E2187* E2187X,GLU2187TER	ENST00000278616.4:c.6559G>T,NC_000011.9:g.108192134G>T,NM_000051.3:c.6559G>T,NP_000042.3:p.Glu2187Ter	stop_gained
1158	ATM	F1025L PHE1025LEU	ENST00000278616.4:c.3075T>G,NC_000011.9:g.108142131T>G,NM_000051.3:c.3075T>G,NP_000042.3:p.Phe1025Leu	missense_variant
1164	ATM	F2732V PHE2732VAL,RS876659619	ENST00000278616.4:c.8194T>G,NC_000011.9:g.108206614T>G,NM_000051.3:c.8194T>G,NP_000042.3:p.Phe2732Val	missense_variant
1155	ATM	K293* K293X,LYS293TER,RS1057516442	ENST00000278616.4:c.877A>T,NM_000051.3:c.877A>T,NP_000042.3:p.Lys293Ter,NC_000011.9:g.108115729A>T	stop_gained
1166	ATM	K468FS LYS468GLUFS	NM_000051.3:c.1402_1403delAA,NP_000042.3:p.Lys468Glufs,NC_000011.9:g.108121594_108121595delAA,ENST00000278616.4:c.1402_1403delAA,NC_000011.9:g.108121594_108121595del	frameshift_variant
1163	ATM	L2427P LEU2427PRO	ENST00000278616.4:c.7280T>C,NC_000011.9:g.108199938T>C,NM_000051.3:c.7280T>C,NP_000042.3:p.Leu2427Pro	missense_variant
178	ATM	Mutation		transcription_variant,loss_of_function_variant
244	ATM	N2875H ASN2875HIS,RS1057519869	ENST00000278616.4:c.8623A>C,NC_000011.9:g.108218044A>C,NM_000051.3:c.8623A>C,NP_000042.3:p.Asn2875His	missense_variant
903	ATM	R3008C	NC_000011.9:g.108236086C>T	missense_variant
243	ATM	S2289* V2288FS*1	ENST00000278616.4:c.6863_6864delTC	frameshift_truncation
901	ATM	T2666A	NC_000011.9:g.108204681A>G	missense_variant
179	ATM	Underexpression
3050	ATM	c.7089+1del
3051	ATM	c.7515+1_2del
3049	ATM	c.902-1G>T
2178	ATP1B1::NRG1	Fusion ATP1B1-NRG1		transcript_fusion
271	ATR	I774FS	NC_000003.11:g.142274740del	frameshift_truncation
3309	ATRX	Deletion		deletion
3203	ATRX	Mutation
648	ATRX	Underexpression UNDEREXPRESSION
180	AURKA	Amplification		transcript_amplification
158	AURKA	EXPRESSION
181	AURKA	Overexpression
651	AXL	EXPRESSION
616	B2M	S14FS	ENST00000558401.1:c.42_45delTCTT,NC_000015.9:g.45003786_45003789del	frameshift_truncation
525	B4GALT1	Overexpression
2211	BAP1	ALTERNATIVE TRANSCRIPT (ATI)
182	BAP1	EXPRESSION
2212	BAP1	Loss
5118	BAP1	Loss-of-function
183	BAP1	Mutation		protein_altering_variant,loss_of_function_variant
2219	BARD1	Loss-of-function
4440	BARD1	Mutation
3082	BCL2	F104I PHE104ILE	NC_000018.10:g.63318357A>T,NC_000018.9:g.60985590A>T,NM_000633.3:c.310T>A,NP_000624.2:p.Phe104Ile	missense_variant
2960	BCL2	G101V GLY101VAL	ENST00000398117.1:c.302G>T	missense_variant
2233	BCL2	Mutation
152	BCL2	Overexpression
151	BCL2	reg_e@[IGH]::BCL2 RECIPROCAL T(14;18)(Q32;Q21),IGH-BCL2		transcript_regulatory_region_fusion
526	BCL2L11	Deletion Polymorphism		polymorphic_sequence_variant
4527	BCOR	ITD INTERNAL TANDEM DUPLICATION		tandem_duplication
663	BCOR	Mutation		transcript_variant
3251	BCOR::CCNB3	Fusion BCOR-CCNB3		transcript_fusion
5034	BCOR::MAML3	Fusion BCOR-MAML3		transcript_fusion
1	BCR::ABL1	Fusion T(9;22)(Q34;Q11),BCR-ABL1,BCR-ABL		transcript_fusion
4497	BCR::FGFR1	Fusion BCR-FGFR1		transcript_fusion
2860	BCR::JAK2	Fusion BCR-JAK2		transcript_fusion

Previous Next