dbVar for OMIM (Select 114480) - dbVar

loading data ...

Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7148049	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 214,745,062-214,745,859 , GRCh37 chr2: 215,609,786-215,610,583	BARD1
nsv7098803	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 29,098,462-29,100,556 , GRCh38 chr22: 28,702,474-28,704,568	CHEK2
nsv7098802	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 29,092,591-29,098,778 , GRCh38 chr22: 28,696,603-28,702,790	CHEK2
nsv7098796	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr22: 28,725,114-28,729,337 , GRCh37 chr22: 29,121,102-29,125,325	CHEK2
nsv7098774	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 215,591,300-215,623,516 , GRCh38.p12 chr2: 214,726,576-214,758,792	BARD1
nsv7098761	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,105,163-108,155,884 , GRCh38.p12 chr11: 108,234,436-108,285,157	ATM
nsv7098740	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,108,886-108,205,398 , GRCh38.p12 chr11: 108,238,159-108,334,671	ATM, C11orf65
nsv7096397	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 215,645,274-215,661,851 , GRCh38.p12 chr2: 214,780,550-214,797,127	BARD1
nsv7096396	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 215,609,781-215,610,588 , GRCh38.p12 chr2: 214,745,057-214,745,864	BARD1
nsv7096395	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 215,593,400-215,595,242 , GRCh38.p12 chr2: 214,728,676-214,730,518	BARD1
nsv7096300	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 29,130,452-29,160,933 , GRCh38.p12 chr22: 28,734,464-28,764,945	CHEK2, HSCB
nsv7096238	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 215,657,001-215,661,861 , GRCh38.p12 chr2: 214,792,277-214,797,137	BARD1
nsv7096237	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 215,645,274-215,657,179 , GRCh38.p12 chr2: 214,780,550-214,792,455	BARD1
nsv7096236	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 215,609,781-215,634,046 , GRCh38.p12 chr2: 214,745,057-214,769,322	BARD1
nsv7096235	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 215,609,620-215,674,259 , GRCh38.p12 chr2: 214,744,896-214,809,535	BARD1, SNHG31
nsv7096234	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 215,593,400-215,634,056 , GRCh38.p12 chr2: 214,728,676-214,769,332	BARD1
nsv7096233	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 215,557,064-215,646,033 , GRCh38.p12 chr2: 214,692,340-214,781,309	BARD1, ENSAP3
nsv7096133	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 215,645,264-215,646,253 , GRCh38.p12 chr2: 214,780,540-214,781,529	BARD1
nsv7096132	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 215,609,781-215,661,851 , GRCh38.p12 chr2: 214,745,057-214,797,127	BARD1
nsv7096131	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 215,609,781-215,609,893 , GRCh38.p12 chr2: 214,745,057-214,745,169	BARD1

dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Send to:

Links from OMIM

Items: 1 to 20 of 376

Number of Variants: 20

Send to:

Supplemental Content

Find related data

Recent activity

dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Links from OMIM

Items: 1 to 20 of 376

Page of 19

Number of Variants: 20

Page of 19

Supplemental Content

Find related data

Recent activity