pex19[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 16

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3912840	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	PEX19, CRB1, 1608 more genes
nsv3889882	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 159,815,642-177,026,983 , GRCh38.p12 chr1: 159,845,852-177,057,847	PEX19, FMO4, 403 more genes
nsv4450412	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186	PEX19, FCGR3B, 302 more genes
nsv3906717	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 159,479,887-166,895,086 , GRCh37 chr1: 159,449,677-166,864,323 , NCBI36 chr1: 157,716,301-165,130,947	PEX19, NOS1AP, 220 more genes
nsv3884593	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 157,610,062-160,185,096 , GRCh37.p13 chr1: 159,343,438-161,918,472 , GRCh38.p12 chr1: 159,373,648-161,948,682	PEX19, OR10AE1P, 148 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	PEX19, MARK1, 4930 more genes
nsv3885206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793	PEX19, SNAP47, 4927 more genes
nsv3884414	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485	PEX19, RNU1-153P, 4887 more genes
nsv3918947	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	PEX19, LOC101060227, 1608 more genes
nsv3900459	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332	PEX19, HORMAD1, 923 more genes
nsv3890224	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 157,747,246-176,021,247 , GRCh37 chr1: 157,717,036-175,990,383 , NCBI36 chr1: 155,983,660-174,257,006	PEX19, LOC101928596, 475 more genes
nsv5381285	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699	PEX19, DCST1, 2428 more genes
nsv6310595	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr1: 158,581,054-162,750,036 , GRCh38.p12 chr1: 158,611,264-162,780,246	PEX19, IGSF8, 193 more genes
nsv4450321	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 159,808,188-161,011,163 , GRCh38.p12 chr1: 159,838,398-161,041,373	PEX19, LOC107985216, 50 more genes
nsv6637035	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 159,778,364-160,770,515 , GRCh38.p12 chr1: 159,808,574-160,800,725	PEX19, SLAMF8, 43 more genes
nsv6310733	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr1: 160,090,676-160,327,063 , GRCh38.p12 chr1: 160,120,886-160,357,273	PEX19, SUMO1P3, 11 more genes

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