pyroglutamyl aminopeptidase II - 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
nsv5672579	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 28,143,225-28,339,403 , GRCh38.p12 chr15\|NW_011332701.1: 32,366-228,556 , GRCh38.p12 chr15: 27,898,079-28,094,257 , GRCh38.p12 chr15\|NT_187660.1: 32,366-228,556	OCA2
nsv4681130	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 44,117,783-44,265,938 , GRCh38.p12 chr11: 44,096,233-44,244,388	EXT2
nsv3882078	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr15: 27,926,498-28,073,963 , GRCh37.p13 chr15: 28,171,644-28,319,109	OCA2
nsv3881710	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 202,377,474-202,514,887 , GRCh37 chr2: 203,242,197-203,379,610	BMPR2
nsv3881069	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 203,242,197-203,378,441 , GRCh38 chr2: 202,377,474-202,513,718	BMPR2
nsv3881297	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 202,376,935-202,464,808 , GRCh37 chr2: 203,241,658-203,329,531	BMPR2
nsv3876077	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 203,242,197-203,329,531 , GRCh38 chr2: 202,377,474-202,464,808	BMPR2
nsv4681598	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 241,656,781-241,737,169 , GRCh38.p12 chr2: 240,717,364-240,797,752	KIF1A
nsv6311125	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	GRCh37 chr22: 30,032,730-30,090,791 , GRCh38.p12 chr22: 29,636,741-29,694,802	NF2
nsv3872432	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 44,144,227-44,198,038 , GRCh37 chr11: 44,165,777-44,219,588	EXT2
nsv6311366	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 203,329,522-203,379,712 , GRCh38.p12 chr2: 202,464,799-202,514,989	BMPR2
nsv3883753	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr2: 203,332,222-203,379,722 , GRCh38 chr2: 202,467,499-202,514,999	BMPR2
nsv4681913	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 10,971,168-11,017,180 , GRCh38.p12 chr16: 10,877,311-10,923,323	CIITA
nsv4681231	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 44,193,141-44,228,529 , GRCh38.p12 chr11: 44,171,591-44,206,979	EXT2
nsv4683778	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 44,117,783-44,151,708 , GRCh38.p12 chr11: 44,096,233-44,130,158	EXT2
nsv7095822	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 30,032,730-30,064,445 , GRCh38.p12 chr22: 29,636,741-29,668,456	NF2
nsv4683122	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 10,529,125-10,557,595 , GRCh38.p12 chr6\|NW_018654713.1: 39,776-68,246 , GRCh38.p12 chr6: 10,528,892-10,557,362	GCNT2
nsv3874002	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 149,478,764-149,505,354 , GRCh37.p13 chrX\|NW_004070890.2: 5,003,162-5,029,752 , GRCh37.p13 chrX: 148,560,295-148,586,884	IDS
nsv6310010	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 55,513,392-55,539,354 , GRCh38.p12 chr16: 55,479,480-55,505,442	MMP2
nsv3884397	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr22: 29,636,741-29,661,349 , GRCh37 chr22: 30,032,730-30,057,338	NF2

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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

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Items: 1 to 20 of 24791

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Number of Variants: 20

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Supplemental Content

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