plekhg7[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 11

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Number of Variants: 11

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3922777	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 73,879,477-93,189,581 , NCBI36 chr12: 72,165,744-91,713,712 , GRCh38 chr12: 73,485,697-92,795,805	PLEKHG7, RN7SL734P, 195 more genes
nsv4456763	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 77,737,623-94,330,526 , GRCh38.p12 chr12: 77,343,843-93,936,750	PLEKHG7, MIR1252, 162 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	PLEKHG7, RNA5SP369, 2454 more genes
nsv3905447	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316	PLEKHG7, LOH12CR2, 2452 more genes
nsv3897722	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059	PLEKHG7, RNU4ATAC16P, 2452 more genes
nsv3914194	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807	PLEKHG7, BTG1P1, 2451 more genes
nsv3904719	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532	PLEKHG7, OR5BT1P, 2441 more genes
nsv3924338	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 89,962,226-108,055,398 , GRCh38 chr12: 91,044,318-109,133,210 , GRCh37 chr12: 91,438,095-109,571,015	PLEKHG7, NUP37, 295 more genes
nsv3911770	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr12: 89,914,416-93,790,725 , GRCh37 chr12: 91,390,285-95,266,594 , GRCh38 chr12: 90,996,508-94,872,818	PLEKHG7, BTG1, 63 more genes
nsv3904148	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr12: 92,816,807-93,103,046 , GRCh38.p12 chr12: 92,423,031-92,709,270	PLEKHG7, CLLU1, 5 more genes
nsv3904388	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 91,621,655-96,014,946 , GRCh38.p12 chr12: 91,227,878-95,621,170	PLEKHG7, LOC100287148, 76 more genes

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plekhg7[All Fields] AND 1[has_clinical] (12)
dbVar
Homo sapiens galactokinase 2 (GALK2), transcript variant 3, mRNA
Homo sapiens galactokinase 2 (GALK2), transcript variant 3, mRNA
gi|1675016636|ref|NM_001289030.2|

Nucleotide
Homo sapiens galactokinase 2 (GALK2), transcript variant 2, mRNA
Homo sapiens galactokinase 2 (GALK2), transcript variant 2, mRNA
gi|48527956|ref|NM_001001556.1|

Nucleotide

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