slc48a1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 10

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6634445	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 44,661,149-48,921,204 , GRCh38.p12 chr12: 44,267,366-48,527,421	SLC48A1, ZNF641, 77 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	SLC48A1, 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	SLC48A1, 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	SLC48A1, 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	SLC48A1, 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	SLC48A1, OR5BT1P, 2441 more genes
nsv1398632	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 31,886,971-50,360,461 , GRCh38.p12 chr12: 31,734,037-49,966,678	SLC48A1, TUBB8P5, 252 more genes
nsv3898591	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 37,857,750-49,791,459 , GRCh38.p12 chr12: 37,463,948-49,397,676	SLC48A1, ZNF75BP, 195 more genes
nsv5564512	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836	SLC48A1, ADCY6, 187 more genes
nsv3920847	inversion	1	nstd102	human	Uncertain significance	GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538	SLC48A1, ASIC1, 491 more genes

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