LOC130067165[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
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 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
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 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
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 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	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 146030	GRCh38/hg38 22q12.1(chr22:27972484-28760350)x1	LOC126863115, CHEK2 +13 more	Copy number loss	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 150220	GRCh38/hg38 22q12.1(chr22:28441053-28819615)x3	CCDC117, CHEK2 +11 more	Copy number gain	See cases	GLikely benign
Select item 417812	NC_000022.11:g.(?_28687743)_(28741834_?)del	CHEK2, LOC130067165	Deletion	Familial cancer of breast	GPathogenic
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 1232772	NM_007194.4(CHEK2):c.-7+62del	CHEK2, LOC130067165	Deletion (intron variant)	not provided	GBenign
Select item 670293	NM_007194.4(CHEK2):c.-7+27G>C	LOC130067165, CHEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422731	NM_007194.4(CHEK2):c.-7+16dup	CHEK2, LOC130067165	Duplication (intron variant)	not specified	GLikely benign
Select item 418770	NM_007194.4(CHEK2):c.-7+4_-7+13del	LOC130067165, CHEK2	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 391098	NM_007194.4(CHEK2):c.-7+11T>C	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not specified	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 380112	NM_007194.4(CHEK2):c.-7+10A>G	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3342004	NM_007194.4(CHEK2):c.-7+5_-7+8del	CHEK2, LOC130067165	Deletion (intron variant)	not provided	GUncertain significance
Select item 422958	NM_007194.4(CHEK2):c.-7+8A>C	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 379731	NM_007194.4(CHEK2):c.-7+8A>G	CHEK2, LOC130067165	Single nucleotide variant (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 803660	NM_007194.4(CHEK2):c.-7+4A>G	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance

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Items: 27