ppfia2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 18

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Number of Variants: 18

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3898069	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 82,139,772-82,158,129 , GRCh38.p12 chr12: 81,745,993-81,764,350	PPFIA2
nsv4455192	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 82,093,845-82,205,711 , GRCh38.p12 chr12: 81,700,066-81,811,932	PPFIA2
nsv4457049	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 81,733,516-81,785,112 , GRCh38.p12 chr12: 81,339,737-81,391,333	PPFIA2, LOC105369872
nsv4455179	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 81,643,220-81,734,161 , GRCh38.p12 chr12: 81,249,441-81,340,382	PPFIA2, PPFIA2-AS1, 1 more genes
nsv3892030	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 69,608,090-89,629,345 , GRCh38.p12 chr12: 69,214,310-89,235,568	PPFIA2, LOC101928002, 197 more genes
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	PPFIA2, 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	PPFIA2, MIR1252, 162 more genes
nsv3924329	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 70,731,264-82,154,924 , GRCh38 chr12: 70,337,484-81,761,145 , NCBI36 chr12: 69,017,531-80,679,055	PPFIA2, NAV3, 118 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	PPFIA2, 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	PPFIA2, 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	PPFIA2, 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	PPFIA2, 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	PPFIA2, OR5BT1P, 2441 more genes
nsv3914424	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 76,482,668-84,288,731 , GRCh38 chr12: 77,564,757-85,370,822 , GRCh37 chr12: 77,958,537-85,764,600	PPFIA2, LOC105369875, 59 more genes
nsv3924183	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr12: 75,484,784-80,938,999 , GRCh37 chr12: 76,960,653-82,414,868 , GRCh38 chr12: 76,566,873-82,021,089	PPFIA2, CSRP2, 52 more genes
nsv4456147	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 81,327,644-82,029,969 , GRCh38.p12 chr12: 80,933,865-81,636,190	PPFIA2, ACSS3, 6 more genes
nsv4675559	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 79,302,790-82,128,250 , GRCh38.p12 chr12: 78,909,010-81,734,471	PPFIA2, NOP56P3, 31 more genes
nsv3900140	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 81,666,797-82,808,748 , GRCh38.p12 chr12: 81,273,018-82,414,969	PPFIA2, LOC105369872, 6 more genes

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