phf5a[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
nsv7095947	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 41,865,151-41,865,206 , GRCh38.p12 chr22: 41,469,147-41,469,202	PHF5A, ACO2
nsv6311196	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr22: 41,865,151-41,924,617 , GRCh38.p12 chr22: 41,469,147-41,528,613	PHF5A, ACO2, 1 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	PHF5A, 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	PHF5A, 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	PHF5A, 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	PHF5A, 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	PHF5A, 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	PHF5A, 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	PHF5A, 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	PHF5A, 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	PHF5A, 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	PHF5A, 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	PHF5A, 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	PHF5A, 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	PHF5A, PDXP-DT, 550 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	PHF5A, UQCRFS1P1, 435 more genes
nsv3910634	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr22: 37,061,769-50,738,932 , NCBI36 chr22: 35,787,755-49,524,226 , GRCh37 chr22: 37,457,809-51,177,360	PHF5A, HDAC10, 381 more genes
nsv3910659	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr22: 37,642,438-49,574,364 , GRCh37.p13 chr22: 39,312,492-51,227,498 , GRCh38.p12 chr22: 38,916,487-50,789,070	PHF5A, LOC100506472, 314 more genes
nsv3905365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 40,425,714-51,220,961 , GRCh38.p12 chr22: 40,029,710-50,782,533	PHF5A, NDUFA6, 277 more genes
nsv4676232	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 40,502,364-51,197,838 , GRCh38.p12 chr22: 40,106,360-50,759,410	PHF5A, MIR378I, 274 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 30

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Number of Variants: 20

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Supplemental Content

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Search details

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