bbs7[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
nsv6315092	insertion	1	nstd102	human	Uncertain significance	GRCh38 chr4: 121,822,648-121,822,648 , GRCh37 chr4: 122,743,803-122,743,803	BBS7, CCNA2
nsv3917126	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr4: 116,630,862-145,429,900 , NCBI36 chr4: 117,771,466-146,570,502 , GRCh37 chr4: 117,552,018-146,351,052	BBS7, SETD7, 294 more genes
nsv6290265	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 114,872,547-138,005,267 , GRCh38.p12 chr4: 113,951,391-137,084,113	BBS7, LOC105379404, 218 more genes
nsv3922957	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 118,273,037-134,486,822 , GRCh38 chr4: 117,351,881-133,565,667 , NCBI36 chr4: 118,492,485-134,706,272	BBS7, LOC102724158, 168 more genes
nsv5381774	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 116,833,638-130,232,122 , GRCh38.p12 chr4: 115,912,482-129,310,967	BBS7, LOC112268469, 159 more genes
nsv3879381	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 116,307,857-129,302,960 , GRCh38.p12 chr4: 115,386,701-128,381,805	BBS7, SAR1AP3, 153 more genes
nsv6313750	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 116,888,785-129,649,979 , GRCh38.p12 chr4: 115,967,629-128,728,824	BBS7, LOC105377395, 152 more genes
nsv3873978	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 11,525-191,028,879 , GRCh38.p12 chr4: 11,525-190,107,724	BBS7, LOC100422029, 2358 more genes
nsv3876533	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 49,450-190,963,766 , GRCh38.p12 chr4: 49,556-190,042,611	BBS7, LOC100420289, 2347 more genes
nsv3884499	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 12,440-190,904,441 , GRCh38.p12 chr4: 12,440-189,983,286	BBS7, MTND4LP29, 2341 more genes
nsv3880085	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr4: 68,346-190,957,473 , GRCh38.p12 chr4: 68,454-190,036,318	BBS7, LOC112268460, 2345 more genes
nsv3883791	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 49,450-190,915,650 , GRCh38.p12 chr4: 49,556-189,994,495	BBS7, LOC105377343, 2341 more genes
nsv3875534	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 93,071,152-190,957,473 , GRCh38.p12 chr4: 92,150,001-190,036,318	BBS7, KLKB1, 1118 more genes
nsv6291432	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 52,866,944-143,582,507 , GRCh38.p12 chr4: 52,000,778-142,661,354	BBS7, SNHG27, 1091 more genes
nsv3874596	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 109,199,664-189,752,726 , GRCh38.p12 chr4: 108,278,508-188,831,572	BBS7, RPL6P12, 938 more genes
nsv3924008	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr4: 118,065,569-190,042,639 , GRCh37 chr4: 118,986,724-190,828,225 , NCBI36 chr4: 119,206,172-191,200,788	BBS7, PPID, 828 more genes
nsv3874610	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 119,437,495-190,904,301 , GRCh38.p12 chr4: 118,516,340-189,983,146	BBS7, OTUD4, 813 more genes
nsv3918110	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr4: 122,658,828-191,220,419 , GRCh38 chr4: 121,518,223-190,062,270 , GRCh37 chr4: 122,439,378-190,828,225	BBS7, SCRG1, 770 more genes
nsv6313878	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 104,715,235-145,252,595 , GRCh38.p12 chr4: 103,794,078-144,331,443	BBS7, LINC00613, 448 more genes
nsv3920388	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 97,014,044-137,331,362 , NCBI36 chr4: 97,233,067-137,550,812 , GRCh38 chr4: 96,092,893-136,410,207	BBS7, MIR576, 447 more genes

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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 27

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Number of Variants: 20

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Supplemental Content

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