ift27[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
nsv3922128	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 35,729,986-39,296,182 , NCBI36 chr22: 34,059,986-37,626,128 , GRCh38 chr22: 35,333,993-38,900,177	IFT27, LOC102724378, 120 more genes
nsv1398432	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 35,680,095-38,098,981 , GRCh38.p12 chr22: 35,284,102-37,702,974	IFT27, MTCO1P20, 74 more genes
nsv7095836	copy number variation	3	nstd102	human	Uncertain significance, Pathogenic	GRCh37 chr22: 37,154,355-39,148,633 , GRCh38.p12 chr22: 36,758,311-38,752,628	IFT27, CSF2RBP1, 80 more genes
nsv3904443	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 36,877,226-38,548,989 , GRCh38.p12 chr22: 36,481,179-38,152,982	IFT27, LOC107985576, 63 more genes
nsv3914747	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr22: 35,278,369-36,395,868 , GRCh38 chr22: 36,552,376-37,669,915 , GRCh37 chr22: 36,948,423-38,065,922	IFT27, ELFN2, 35 more genes
nsv3902776	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 16,054,667-51,243,435 , GRCh38.p12 chr22: 16,367,190-50,805,007	IFT27, LOC100419811, 1084 more genes
nsv3894026	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 16,054,691-51,237,518 , GRCh38.p12 chr22: 16,367,190-50,799,090	IFT27, IGKV3OR22-2, 1084 more genes
nsv3890411	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 16,054,691-51,237,463 , GRCh38.p12 chr22: 16,367,190-50,799,035	IFT27, RNU6-495P, 1084 more genes
nsv4729926	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824	IFT27, FBXO7, 1084 more genes
nsv3902598	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 16,054,691-51,220,902 , GRCh38.p12 chr22: 16,367,190-50,782,474	IFT27, FABP5P11, 1084 more genes
nsv3907231	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 16,114,244-51,211,392 , GRCh38.p12 chr22: 16,367,190-50,772,964	IFT27, DDTL, 1084 more genes
nsv3890401	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 16,114,244-51,195,728 , GRCh38.p12 chr22: 16,367,190-50,757,300	IFT27, YPEL1, 1083 more genes
nsv4457771	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410	IFT27, IGLV3-27, 1082 more genes
nsv3891895	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr22: 16,888,900-51,197,838 , GRCh38.p12 chr22: 16,408,174-50,759,410	IFT27, POM121L7P, 1082 more genes
nsv3913775	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr22: 15,777,498-49,525,130 , GRCh38 chr22: 16,916,608-50,739,836 , GRCh37 chr22: 17,397,498-51,178,264	IFT27, ZNF280A, 1059 more genes
nsv3919881	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 17,397,633-51,178,213 , GRCh38 chr22: 16,916,743-50,739,785 , NCBI36 chr22: 15,777,633-49,525,079	IFT27, MIR12114, 1059 more genes
nsv3919085	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr22: 17,008,132-49,591,432 , GRCh37.p13 chr22: 18,628,132-51,244,566 , GRCh38.p12 chr22: 18,145,365-50,806,138	IFT27, IGLV2-28, 1023 more genes
nsv4676292	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410	IFT27, PDXP-DT, 550 more genes
nsv3914617	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 21,261,514-37,583,387 , GRCh38 chr22: 20,907,226-37,187,347 , NCBI36 chr22: 19,591,514-35,913,333	IFT27, RASL10A, 525 more genes
nsv3906962	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 35,728,929-51,220,961 , GRCh38.p12 chr22: 35,332,936-50,782,533	IFT27, UQCRFS1P1, 435 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 22

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Number of Variants: 20

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