slc16a7[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 19

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Number of Variants: 19

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3909163	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 60,164,408-60,187,843 , GRCh38.p12 chr12: 59,770,627-59,794,062	SLC16A7
nsv3894204	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 60,082,506-60,103,822 , GRCh38.p12 chr12: 59,688,725-59,710,041	SLC16A7
nsv3900678	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr12: 60,161,907-60,415,132 , GRCh38.p12 chr12: 59,768,126-60,021,351	SLC16A7, LOC100996696
nsv3904997	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 60,173,814-60,610,476 , GRCh38.p12 chr12: 59,780,033-60,216,695	SLC16A7, LOC100996696
nsv4675978	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 59,659,908-60,004,443 , GRCh38.p12 chr12: 59,266,127-59,610,662	SLC16A7, RNU6-871P, 3 more genes
nsv3911302	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 57,013,355-63,042,498 , NCBI36 chr12: 55,693,406-61,722,545 , GRCh37 chr12: 57,407,139-63,436,278	SLC16A7, CTDSP2, 97 more genes
nsv3910298	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 57,434,942-60,667,715 , GRCh38 chr12: 57,041,158-60,273,934 , NCBI36 chr12: 55,721,209-58,953,982	SLC16A7, MARS1, 72 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	SLC16A7, 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	SLC16A7, 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	SLC16A7, 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	SLC16A7, 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	SLC16A7, OR5BT1P, 2441 more genes
nsv4675143	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523	SLC16A7, OR6C71P, 183 more genes
nsv3897392	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr12: 59,167,152-60,244,566 , GRCh38.p12 chr12: 58,773,370-59,850,785	SLC16A7, LRIG3, 10 more genes
nsv6637878	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 59,615,966-61,926,383 , GRCh38.p12 chr12: 59,222,185-61,532,602	SLC16A7, LINC02448, 6 more genes
nsv3904536	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 59,840,189-60,971,215 , GRCh38.p12 chr12: 59,446,408-60,577,434	SLC16A7, RNU4-20P, 4 more genes
nsv3919612	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr12: 58,033,165-58,766,008 , GRCh37 chr12: 59,746,898-60,479,741 , GRCh38 chr12: 59,353,117-60,085,960	SLC16A7, LINC02448, 4 more genes
nsv4728909	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 59,136,522-62,410,625 , GRCh38.p12 chr12: 58,742,740-62,016,844	SLC16A7, KRT8P19, 17 more genes
nsv3911513	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr12: 58,802,649-59,703,763 , NCBI36 chr12: 57,482,698-58,383,811 , GRCh37 chr12: 59,196,431-60,097,544	SLC16A7, RPS6P22, 8 more genes

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slc16a7[All Fields] AND 1[has_clinical] (20)
dbVar
Severe postnatal growth retardation
Severe postnatal growth retardation

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C1857641[conceptid] (1)
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