gale[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4683823	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 149,751,687-149,817,005 , GRCh38.p12 chrX: 150,583,227-150,648,532	MTM1
nsv4683464	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 20,029,700-20,062,756 , GRCh38.p12 chr22: 20,042,177-20,075,233	TANGO2
nsv4683467	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 36,163,689-36,176,362 , GRCh38.p12 chr21: 34,791,392-34,804,065	RUNX1
nsv4683793	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr5: 138,525,416-138,537,243 , GRCh38.p12 chr5: 139,189,727-139,201,554	SIL1
nsv5060006	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 203,234,119-203,242,446 , GRCh38 chr2: 202,369,396-202,377,723	BMPR2
nsv5673363	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 202,373,246-202,381,016 , GRCh37 chr2: 203,237,969-203,245,739	BMPR2
nsv5673443	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 203,325,958-203,332,529 , GRCh38 chr2: 202,461,235-202,467,806	BMPR2
nsv4674649	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 87,042,588-87,043,916 , GRCh38 chr7: 87,413,272-87,414,600	ABCB4
nsv997141	copy number variation	1	nstd45	human	Pathogenic	GRCh37 chrX: 131,211,014-131,262,050 , GRCh38.p12 chrX: 132,076,986-132,128,022	FRMD7
nsv5381282	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 196,950,208-196,950,209 , GRCh38 chr1: 196,981,078-196,981,079	CFHR5
nsv4682623	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 203,387,039-203,444,732 , GRCh38.p12 chr2: 202,522,316-202,580,009	BMPR2
nsv4683087	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chrX: 41,365,759-41,401,503 , GRCh38.p12 chrX: 41,506,506-41,542,250	CASK
nsv4682457	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 203,226,401-203,255,921 , GRCh38.p12 chr2: 202,361,678-202,391,198	BMPR2
nsv4683750	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 203,223,399-203,248,060 , GRCh38.p12 chr2: 202,358,676-202,383,337	BMPR2
nsv4681774	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 203,238,715-203,257,663 , GRCh38.p12 chr2: 202,373,992-202,392,940	BMPR2
nsv4681889	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 203,387,503-203,403,415 , GRCh38.p12 chr2: 202,522,780-202,538,692	BMPR2
nsv4682793	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr19: 36,314,901-36,329,450 , GRCh38.p12 chr19: 35,823,999-35,838,548	NPHS1
nsv4674526	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 203,422,331-203,434,823 , GRCh38.p12 chr2: 202,557,608-202,570,100	BMPR2
nsv4674595	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 203,422,386-203,434,797 , GRCh38.p12 chr2: 202,557,663-202,570,074	BMPR2
nsv4681705	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 203,403,129-203,415,088 , GRCh38.p12 chr2: 202,538,406-202,550,365	BMPR2

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Number of Variants: 20

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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

Search results

Items: 1 to 20 of 76

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Number of Variants: 20

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