prkaa2[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
nsv3879473	copy number variation	1	nstd102	human	Benign	GRCh37 chr1: 57,109,660-57,189,793 , GRCh38.p12 chr1: 56,643,987-56,724,120	PRKAA2, LOC101929935, 1 more genes
nsv4768338	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280	PRKAA2, TALDO1P1, 201 more genes
nsv3895522	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 54,092,945-64,714,537 , GRCh38 chr1: 53,627,272-64,248,854 , NCBI36 chr1: 53,865,533-64,487,125	PRKAA2, FGGY, 159 more genes
nsv3893402	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 53,738,212-61,439,648 , NCBI36 chr1: 53,976,473-61,677,908 , GRCh37 chr1: 54,203,885-61,905,320	PRKAA2, LOC105378748, 107 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	PRKAA2, 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	PRKAA2, 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	PRKAA2, RNU1-153P, 4887 more genes
nsv3896927	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 53,061,024-77,233,450 , GRCh38 chr1: 52,595,352-76,767,765 , NCBI36 chr1: 52,833,612-77,006,038	PRKAA2, DNAI4, 346 more genes
nsv3899721	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr1: 53,025,763-67,578,144 , GRCh37 chr1: 53,253,175-67,805,556 , GRCh38 chr1: 52,787,503-67,339,873	PRKAA2, AK4, 230 more genes
nsv4674049	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 56,844,621-58,438,748 , GRCh38.p12 chr1: 56,378,949-57,973,076	PRKAA2, LOC105378746, 14 more genes
nsv4436181	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532	PRKAA2, LINC01776, 1853 more genes
nsv6637046	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 57,137,390-59,037,566 , GRCh38.p12 chr1: 56,671,717-58,571,894	PRKAA2, OMA1, 15 more genes
nsv3871329	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 56,897,995-57,698,341 , GRCh38.p12 chr1: 56,432,323-57,232,668	PRKAA2, LOC105378748, 10 more genes
nsv3916352	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr1: 56,632,990-57,413,029 , GRCh37.p13 chr1: 56,860,402-57,640,441 , GRCh38.p12 chr1: 56,394,730-57,174,768	PRKAA2, DAB1, 11 more genes
nsv3893165	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr1: 56,429,283-57,190,889 , GRCh37 chr1: 56,894,955-57,656,562 , NCBI36 chr1: 56,667,543-57,429,150	PRKAA2, DAB1, 10 more genes

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