slc17a8[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 14

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Number of Variants: 14

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4675259	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 100,815,231-100,990,942 , GRCh38.p12 chr12: 100,421,453-100,597,164	SLC17A8, PIGAP1, 2 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	SLC17A8, 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	SLC17A8, 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	SLC17A8, 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	SLC17A8, 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	SLC17A8, OR5BT1P, 2441 more genes
nsv3924338	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 89,962,226-108,055,398 , GRCh38 chr12: 91,044,318-109,133,210 , GRCh37 chr12: 91,438,095-109,571,015	SLC17A8, NUP37, 295 more genes
nsv3900015	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 94,881,995-103,635,998 , GRCh38.p12 chr12: 94,488,219-103,242,220	SLC17A8, CDK17, 140 more genes
nsv3896382	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 96,719,383-101,537,641 , GRCh38.p12 chr12: 96,325,605-101,143,863	SLC17A8, APAF1, 50 more genes
nsv3911550	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr12: 96,312,459-100,328,134 , GRCh37 chr12: 97,788,328-101,804,003 , GRCh38 chr12: 97,394,550-101,410,225	SLC17A8, APAF1, 45 more genes
nsv6313913	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 100,564,593-103,021,075 , GRCh38.p12 chr12: 100,170,815-102,627,297	SLC17A8, DEPDC4, 46 more genes
nsv3907610	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 100,580,198-105,804,075 , GRCh38.p12 chr12: 100,186,420-105,410,297	SLC17A8, ASCL1, 87 more genes
nsv3897736	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 99,725,136-100,857,873 , GRCh38.p12 chr12: 99,331,358-100,464,095	SLC17A8, SCYL2, 10 more genes
nsv3906294	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 100,667,424-101,651,880 , GRCh38.p12 chr12: 100,273,646-101,258,102	SLC17A8, PIGAP1, 8 more genes

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