hps4[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
nsv7096344	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 26,859,863-26,864,609 , GRCh38.p12 chr22: 26,463,897-26,468,643	HPS4
nsv6311122	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr22: 26,872,939-26,873,122 , GRCh38.p12 chr22: 26,476,973-26,477,156	HPS4
nsv3891487	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr22: 26,838,242-26,881,031 , GRCh38.p12 chr22: 26,442,276-26,485,065	HPS4, ASPHD2, 1 more genes
nsv3923205	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr22: 25,177,008-30,177,912 , GRCh37 chr22: 26,847,008-31,847,912 , GRCh38 chr22: 26,451,042-31,451,926	HPS4, DRG1, 138 more genes
nsv3924941	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr22: 26,221,273-29,477,543 , GRCh37 chr22: 26,617,239-29,873,532 , NCBI36 chr22: 24,947,239-28,203,532	HPS4, TFIP11, 66 more genes
nsv6637977	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 26,614,429-29,847,680 , GRCh38.p12 chr22: 26,218,463-29,451,691	HPS4, MIAT, 65 more genes
nsv4676280	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 26,337,910-28,489,947 , GRCh38.p12 chr22: 25,941,943-28,093,959	HPS4, LOC646216, 42 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	HPS4, 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	HPS4, 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	HPS4, 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	HPS4, 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	HPS4, 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	HPS4, 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	HPS4, 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	HPS4, 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	HPS4, 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	HPS4, 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	HPS4, 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	HPS4, IGLV2-28, 1023 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	HPS4, RASL10A, 525 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 29

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Number of Variants: 20

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Supplemental Content

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Search details

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