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

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Items: 15

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Number of Variants: 15

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	PMVK, CRB1, 1608 more genes
nsv3906070	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 152,814,789-153,529,316 , GRCh37 chr1: 154,548,165-155,262,692 , GRCh38 chr1: 154,575,689-155,292,901	PMVK, PBXIP1, 37 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	PMVK, 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	PMVK, 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	PMVK, 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	PMVK, 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	PMVK, HORMAD1, 923 more genes
nsv3917016	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925	PMVK, SMU1P1, 152 more genes
nsv3906950	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 154,566,501-157,624,084 , NCBI36 chr1: 152,805,601-155,860,498 , GRCh37 chr1: 154,538,977-157,593,874	PMVK, ARHGEF2-AS2, 131 more genes
nsv3870644	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 153,751,465-156,660,462 , GRCh38.p12 chr1: 153,778,989-156,690,670	PMVK, ADAR, 145 more genes
nsv3909898	inversion	1	nstd102	human	Likely pathogenic	GRCh38.p12 chr1: 154,158,509-156,874,085 , GRCh37 chr1: 154,130,985-156,843,877	PMVK, ADAR, 136 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	PMVK, DCST1, 2428 more genes
nsv6310678	copy number variation	4	nstd102	human	Uncertain significance	GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642	PMVK, PRPF3, 352 more genes
nsv6310523	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 154,141,761-156,851,434 , GRCh38.p12 chr1: 154,169,285-156,881,642	PMVK, MIR555, 135 more genes
nsv4673954	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 154,898,854-155,242,457 , GRCh38.p12 chr1: 154,926,378-155,272,666	PMVK, GBA1LP, 31 more genes

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pmvk[All Fields] AND 1[has_clinical] (16)
dbVar
Component(Core) Links for Nucleotide (Select 1677530448) (4)
Nucleotide
NFASC neurofascin [Homo sapiens]
NFASC neurofascin [Homo sapiens]
Gene ID:23114

Gene
NKX1-2 NK1 homeobox 2 [Homo sapiens]
NKX1-2 NK1 homeobox 2 [Homo sapiens]
Gene ID:390010

Gene
390010[uid] AND (alive[prop]) (1)
Gene

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