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

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Items: 19

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Number of Variants: 19

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7095246	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 155,261,527-155,261,748 , GRCh38.p12 chr1: 155,291,736-155,291,957 , GRCh38.p12 chr1\|NW_003315906.1: 96,759-96,980	PKLR
nsv7095704	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 155,271,067-155,271,280 , GRCh38.p12 chr1: 155,301,276-155,301,489 , GRCh38.p12 chr1\|NW_003315906.1: 106,299-106,512	PKLR
nsv4451749	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 155,252,202-155,293,625 , GRCh38 chr1: 155,282,411-155,323,834	PKLR, FDPS, 3 more genes
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	PKLR, 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	PKLR, 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	PKLR, 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	PKLR, 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	PKLR, 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	PKLR, 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	PKLR, 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	PKLR, 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	PKLR, 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	PKLR, 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	PKLR, 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	PKLR, 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	PKLR, 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	PKLR, MIR555, 135 more genes
nsv3892457	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr1: 155,182,457-155,787,428 , GRCh37 chr1: 155,154,933-155,757,219 , NCBI36 chr1: 153,421,557-154,023,843	PKLR, DAP3P1, 35 more genes
nsv3890833	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr1: 153,245,646-153,700,678 , GRCh37 chr1: 154,979,022-155,434,054 , GRCh38 chr1: 155,006,546-155,464,263	PKLR, CLK2, 32 more genes

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pklr[All Fields] AND 1[has_clinical] (20)
dbVar
Gene Links for GEO Profiles (Select 80028932) (1)
Gene
NNT nicotinamide nucleotide transhydrogenase [Homo sapiens]
NNT nicotinamide nucleotide transhydrogenase [Homo sapiens]
Gene ID:23530

Gene
CCL28 C-C motif chemokine ligand 28 [Homo sapiens]
CCL28 C-C motif chemokine ligand 28 [Homo sapiens]
Gene ID:56477

Gene
Profile neighbors for GEO Profiles (Select 80021123) (200)
GEO Profiles

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