ift172[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
nsv7096494	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 27,693,775-27,695,249 , GRCh38.p12 chr2: 27,470,908-27,472,382	IFT172
nsv4682642	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 27,685,568-27,686,048 , GRCh38.p12 chr2: 27,462,701-27,463,181	IFT172
nsv7096628	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 27,688,258-27,688,405 , GRCh38.p12 chr2: 27,465,391-27,465,538	IFT172
nsv5381578	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 27,670,372-27,670,799 , GRCh38.p12 chr2: 27,447,505-27,447,932	IFT172
nsv6311571	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 27,667,299-27,677,547 , GRCh38.p12 chr2: 27,444,432-27,454,680	IFT172, KRTCAP3
nsv7096648	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 27,712,462-27,726,506 , GRCh38.p12 chr2: 27,489,595-27,503,639	IFT172, FNDC4, 1 more genes
nsv6634330	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419	IFT172, CYP1B1-AS1, 1649 more genes
nsv3890734	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 22,656,029-28,601,557 , GRCh37 chr2: 22,802,524-28,748,053 , GRCh38 chr2: 22,579,652-28,525,186	IFT172, MAPRE3-AS1, 142 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	IFT172, 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	IFT172, IGKV2OR2-10, 3737 more genes
nsv3885544	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609	IFT172, RNU6-674P, 3735 more genes
nsv3882615	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232	IFT172, MTND2P22, 3724 more genes
nsv3908605	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277	IFT172, SLC35F6, 801 more genes
nsv3908288	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 236,816-46,210,371 , GRCh38 chr2: 236,816-45,983,232 , NCBI36 chr2: 226,816-46,063,875	IFT172, ALLC, 674 more genes
nsv6636815	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 706,460-35,523,639 , GRCh38.p12 chr2: 706,460-35,298,573	IFT172, LOC105374455, 504 more genes
nsv3908038	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 12,770-33,936,576 , NCBI36 chr2: 2,770-33,790,080 , GRCh38 chr2: 12,770-33,711,509	IFT172, LOC105373394, 507 more genes
nsv3879320	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 22,665,048-52,850,368 , GRCh38.p12 chr2: 22,442,176-52,623,230	IFT172, ATL2, 465 more genes
nsv3907033	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 20,341-28,496,035 , GRCh38 chr2: 30,341-28,419,664 , GRCh37 chr2: 30,341-28,642,531	IFT172, GTF3C2-AS1, 434 more genes
nsv6137788	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145	IFT172, GTF3C2-AS1, 316 more genes
nsv3919769	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 22,776,056-33,845,581 , GRCh37.p13 chr2: 22,922,551-33,992,077 , GRCh38.p12 chr2: 22,699,679-33,767,010	IFT172, RNA5SP88, 213 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 24

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Number of Variants: 20

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Supplemental Content

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