ClinVar for Gene (Select 130067165) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342004	NM_007194.4(CHEK2):c.-7+5_-7+8del	CHEK2, LOC130067165	Deletion (intron variant)	not provided	GUncertain significance
Select item 1291143	NM_007194.4(CHEK2):c.-7+11T>A	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232772	NM_007194.4(CHEK2):c.-7+62del	CHEK2, LOC130067165	Deletion (intron variant)	not provided	GBenign
Select item 803660	NM_007194.4(CHEK2):c.-7+4A>G	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 670293	NM_007194.4(CHEK2):c.-7+27G>C	LOC130067165, CHEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511708	NM_007194.4(CHEK2):c.-7+10A>T	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 422958	NM_007194.4(CHEK2):c.-7+8A>C	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 422731	NM_007194.4(CHEK2):c.-7+16dup	CHEK2, LOC130067165	Duplication (intron variant)	not specified	GLikely benign
Select item 420693	NM_007194.4(CHEK2):c.-7+6T>C	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 418770	NM_007194.4(CHEK2):c.-7+4_-7+13del	LOC130067165, CHEK2	Deletion (intron variant)	not provided	GUncertain significance
Select item 417812	NC_000022.11:g.(?_28687743)_(28741834_?)del	CHEK2, LOC130067165	Deletion	Familial cancer of breast	GPathogenic
Select item 391098	NM_007194.4(CHEK2):c.-7+11T>C	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 380112	NM_007194.4(CHEK2):c.-7+10A>G	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 379731	NM_007194.4(CHEK2):c.-7+8A>G	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 223674	NM_007194.4(CHEK2):c.-7+136T>C	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 150220	GRCh38/hg38 22q12.1(chr22:28441053-28819615)x3	CCDC117, CHEK2 +11 more	Copy number gain	See cases	GLikely benign
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 146030	GRCh38/hg38 22q12.1(chr22:27972484-28760350)x1	LOC126863115, CHEK2 +13 more	Copy number loss	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 59056	GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3	CCDC117, CHEK2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 27