abhd8[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 17

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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
nsv3893972	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 15,959,347-17,901,296 , GRCh38.p12 chr19: 15,848,537-17,790,487	ABHD8, BABAM1, 70 more genes
nsv3904885	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923	ABHD8, ZNF321P, 2443 more genes
nsv3903203	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793	ABHD8, BABAM1, 2426 more genes
nsv3903092	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521	ABHD8, LENG8, 2408 more genes
nsv3913730	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 11,199,618-49,821,491 , GRCh37 chr19: 11,338,618-45,129,651 , GRCh38 chr19: 11,227,942-44,626,354	ABHD8, BCKDHA, 1102 more genes
nsv3914228	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 17,148,576-40,106,894 , GRCh38 chr19: 17,176,767-34,924,150 , GRCh37 chr19: 17,287,576-35,415,054	ABHD8, LOC105372355, 411 more genes
nsv3922457	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 14,085,489-28,330,584 , GRCh38 chr19: 13,974,677-27,839,676 , NCBI36 chr19: 13,946,489-33,022,424	ABHD8, REX1BD, 416 more genes
nsv3921076	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 15,133,594-24,193,591 , GRCh37 chr19: 15,244,405-24,376,393 , NCBI36 chr19: 15,105,405-24,168,233	ABHD8, MRPL34, 358 more genes
nsv3895942	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 16,526,787-24,631,604 , GRCh38.p12 chr19: 16,415,976-24,448,802	ABHD8, BNIP3P37, 307 more genes
nsv4729750	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 14,286,624-20,956,753 , GRCh38.p12 chr19: 14,175,812-20,773,947	ABHD8, LOC105372309, 269 more genes
nsv3893745	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr19: 15,921,132-17,479,860 , GRCh38.p12 chr19: 15,810,322-17,369,051	ABHD8, NR2F6, 56 more genes
nsv3896668	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 17,392,434-17,449,187 , GRCh38.p12 chr19: 17,281,625-17,338,378	ABHD8, ANKLE1, 4 more genes
nsv4457871	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 16,875,725-17,477,318 , GRCh38.p12 chr19: 16,764,914-17,366,509	ABHD8, HAUS8, 19 more genes
nsv3905183	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 17,325,373-17,840,956 , GRCh38.p12 chr19: 17,214,564-17,730,147	ABHD8, MAP1S, 26 more genes
nsv3923633	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr19: 17,246,895-17,730,147 , GRCh37 chr19: 17,357,704-17,840,956 , NCBI36 chr19: 17,218,704-17,701,956	ABHD8, ANKLE1, 23 more genes
nsv3896442	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 17,001,280-17,536,087 , GRCh38.p12 chr19: 16,890,469-17,425,278	ABHD8, USE1, 23 more genes
nsv3878379	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 17,001,280-17,536,087 , GRCh38.p12 chr19: 16,890,469-17,425,278	ABHD8, HAUS8, 23 more genes

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