l3hypdh[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 16

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Number of Variants: 16

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4455097	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr14: 59,939,135-60,006,849 , GRCh38.p12 chr14: 59,472,417-59,540,131	L3HYPDH, CCDC175, 1 more genes
nsv3922652	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 57,507,754-67,674,948 , NCBI36 chr14: 56,577,507-66,744,701 , GRCh38 chr14: 57,041,036-67,208,231	L3HYPDH, PARP1P2, 160 more genes
nsv3924033	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 58,120,131-64,560,246 , GRCh38 chr14: 57,653,413-64,093,528 , NCBI36 chr14: 57,189,884-63,629,999	L3HYPDH, DACT1, 105 more genes
nsv3915521	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr14: 57,682,493-60,810,090 , GRCh37 chr14: 58,612,740-61,740,337 , GRCh38 chr14: 58,146,022-61,273,619	L3HYPDH, DACT1, 61 more genes
nsv3910126	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr14: 58,143,026-61,052,791 , GRCh37.p13 chr14: 59,073,273-61,983,038 , GRCh38.p12 chr14: 58,606,555-61,516,320	L3HYPDH, AKR1B1P5, 45 more genes
nsv3902883	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,000,422-107,289,053 , GRCh38.p12 chr14: 18,223,945-106,880,863	L3HYPDH, LOC440181, 1998 more genes
nsv3907460	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,280,733-107,287,663 , GRCh38.p12 chr14: 18,504,256-106,879,456	L3HYPDH, BANF1P1, 1996 more genes
nsv3899639	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,327,823-107,287,663 , GRCh38.p12 chr14: 18,551,346-106,879,456	L3HYPDH, LOC100289511, 1996 more genes
nsv3903256	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,794,561-107,234,280 , GRCh38.p12 chr14: 19,652,445-106,826,050	L3HYPDH, DHRS7, 1946 more genes
nsv3919106	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 20,511,673-107,285,437 , GRCh38 chr14: 20,043,514-106,877,229 , NCBI36 chr14: 19,581,513-106,356,482	L3HYPDH, SRMP2, 1929 more genes
nsv3904265	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 20,511,673-107,285,437 , GRCh38.p12 chr14: 20,043,514-106,877,229	L3HYPDH, CRIP1, 1929 more genes
nsv3917422	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr14: 20,151,149-106,855,263 , NCBI36 chr14: 19,689,148-106,334,523 , GRCh37 chr14: 20,619,308-107,263,478	L3HYPDH, MIR656, 1918 more genes
nsv6315524	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 37,671,058-106,985,955 , GRCh38.p12 chr14: 37,201,853-106,530,013	L3HYPDH, PAPOLA-DT, 1338 more genes
nsv6637682	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr14: 57,804,997-63,590,203 , GRCh38.p12 chr14: 57,338,279-63,123,485	L3HYPDH, PARP1P2, 91 more genes
nsv5980451	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321	L3HYPDH, ACTN1, 400 more genes
nsv3900086	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr14: 59,527,587-60,119,877 , GRCh38.p12 chr14: 59,060,869-59,653,159	L3HYPDH, CCDC175, 9 more genes

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