bbs5[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
nsv7098763	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 170,333,792-170,339,709 , GRCh38 chr2: 169,477,282-169,483,199	BBS5
nsv6311622	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 170,359,585-170,361,092 , GRCh38.p12 chr2: 169,503,075-169,504,582	BBS5
nsv7096104	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 170,349,364-170,350,366 , GRCh38.p12 chr2: 169,492,854-169,493,856	BBS5
nsv4683706	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 170,349,384-170,350,346 , GRCh38.p12 chr2: 169,492,874-169,493,836	BBS5
nsv6311621	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 170,336,064-170,336,142 , GRCh38.p12 chr2: 169,479,554-169,479,632	BBS5
nsv3892008	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 170,355,189-170,364,951 , GRCh38 chr2: 169,498,679-169,508,441	BBS5, KLHL41
nsv7096383	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 170,344,296-170,382,206 , GRCh38.p12 chr2: 169,487,786-169,525,696	BBS5, KLHL41
nsv6311352	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 170,218,811-170,382,206 , GRCh38.p12 chr2: 169,362,301-169,525,696	BBS5, LRP2, 1 more genes
nsv3888343	copy number variation	1	nstd102	human	Benign	GRCh37 chr2: 170,344,060-170,469,839 , GRCh38.p12 chr2: 169,487,550-169,613,329	BBS5, KLHL41, 2 more genes
nsv7096582	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr2: 169,853,125-170,344,644 , GRCh38.p12 chr2: 168,996,615-169,488,134	BBS5, DHRS9, 3 more genes
nsv3910630	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331	BBS5, DAZAP2P1, 2991 more genes
nsv4451512	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647	BBS5, LINC01117, 339 more genes
nsv4768307	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890	BBS5, RBM45, 258 more genes
nsv3904056	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 164,821,892-183,059,789 , NCBI36 chr2: 164,530,138-182,768,034 , GRCh38 chr2: 163,965,382-182,195,062	BBS5, PRKRA, 256 more genes
nsv6315160	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123	BBS5, EIF3EP3, 158 more genes
nsv3909452	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 165,706,627-176,423,918 , GRCh38 chr2: 164,850,117-175,559,190 , NCBI36 chr2: 165,414,873-176,132,164	BBS5, LOC107985959, 141 more genes
nsv3914220	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 166,992,294-175,094,656 , GRCh37.p13 chr2: 167,284,048-175,386,410 , GRCh38.p12 chr2: 166,427,538-174,521,682	BBS5, GPR155-DT, 111 more genes
nsv3903934	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 164,922,548-172,962,614 , NCBI36 chr2: 164,630,794-172,670,860 , GRCh38 chr2: 164,066,038-172,097,886	BBS5, LOC105373739, 95 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	BBS5, LOC112268439, 3737 more genes
nsv3874648	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305	BBS5, IGKV2OR2-10, 3737 more genes

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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 34

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Number of Variants: 20

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