"nstd102"[study] AND "Pathogenic/Likely pathogenic"[Clinical Interpret - dbVar - NCBI

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Number of Variants: 17

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3920070	copy number variation	2	nstd102	human	Pathogenic, Pathogenic/Likely pathogenic	GRCh37 chr7: 80,256,737-80,280,613 , NCBI36 chr7: 80,094,673-80,118,549 , GRCh38 chr7: 80,627,421-80,651,297	CD36
nsv3877933	copy number variation	2	nstd102	human	Pathogenic, Pathogenic/Likely pathogenic	GRCh37 chr17: 41,267,743-41,267,796 , GRCh38 chr17: 43,115,726-43,115,779	BRCA1
nsv5673066	copy number variation	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr19: 11,230,812-11,235,081 , GRCh38 chr19: 11,120,136-11,124,405	LDLR
nsv3886158	copy number variation	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr19: 11,204,259-11,218,486 , GRCh38 chr19: 11,093,583-11,107,810	LDLR
nsv4768330	copy number variation	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr19: 11,221,454-11,221,454 , GRCh38 chr19: 11,104,770-11,104,771	LDLR
nsv3887173	copy number variation	2	nstd102	human	Pathogenic, Pathogenic/Likely pathogenic	GRCh38 chr19: 11,107,515-11,113,277 , GRCh37 chr19: 11,218,191-11,223,953	LDLR, MIR6886
nsv3878504	copy number variation	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr19: 11,221,448-11,223,953 , GRCh38.p12 chr19: 11,110,772-11,113,277	LDLR, MIR6886
nsv3924558	delins	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr15: 72,662,933-72,670,877 , GRCh38 chr15: 72,370,592-72,378,536	HEXA, HEXA-AS1, 1 more genes
nsv3899666	copy number variation	13	nstd102	human	Pathogenic, Pathogenic/Likely pathogenic	GRCh37 chr1: 145,987,156-148,545,520 , NCBI36 chr1: 144,698,513-146,812,144 , GRCh38 chr1: 145,215,697-149,076,087	ANKRD34A, LOC107985593, 136 more genes
nsv3913948	copy number variation	3	nstd102	human	Pathogenic, Pathogenic/Likely pathogenic	GRCh38 chr16: 29,662,633-30,179,247 , NCBI36 chr16: 29,581,455-30,098,069 , GRCh37 chr16: 29,673,954-30,190,568	PAGR1, ASPHD1, 31 more genes
nsv3914582	copy number variation	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr15: 32,065,000-32,676,855 , NCBI36 chr15: 29,852,292-30,464,147 , GRCh38 chr15: 31,772,797-32,384,654	CHRNA7, OTUD7A, 5 more genes
nsv3916578	copy number variation	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr16: 15,492,307-18,366,738 , NCBI36 chr16: 15,399,808-18,274,239 , GRCh38 chr16: 15,398,450-18,272,881	ABCC6, ABCC1, 38 more genes
nsv3917026	copy number variation	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr22: 21,808,950-22,905,068 , NCBI36 chr22: 20,138,950-21,235,068 , GRCh38 chr22: 21,454,661-22,562,663	IGL, MAPK1, 76 more genes
nsv3919861	copy number variation	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr16: 15,492,307-16,305,677 , NCBI36 chr16: 15,399,808-16,213,178 , GRCh38 chr16: 15,398,450-16,211,820	ABCC6, ABCC1, 14 more genes
nsv3893544	copy number variation	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr16: 28,826,162-29,043,901 , GRCh38.p12 chr16: 28,814,841-29,032,580	ATP2A1, CD19, 10 more genes
nsv3874583	copy number variation	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr1: 145,415,190-148,809,863 , NCBI36 chr1: 144,126,547-147,076,487 , GRCh38.p12 chr1: 146,349,909-149,563,337	BCL9, FMO5, 98 more genes
nsv3898281	copy number variation	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr1: 146,507,649-147,824,212 , GRCh38 chr1: 147,036,093-148,352,084	BCL9, FMO5, 53 more genes

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