smim7[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 16

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Number of Variants: 16

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3898007	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 16,665,169-16,741,745 , GRCh38.p12 chr19: 16,554,358-16,630,934	SMIM7, LOC105372295, 3 more genes
nsv6637781	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 16,665,170-16,741,745 , GRCh38.p12 chr19: 16,554,359-16,630,934	SMIM7, MED26, 3 more genes
nsv3909889	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 14,126,774-16,886,123 , GRCh38 chr19: 14,154,962-16,914,313 , GRCh37 chr19: 14,265,774-17,025,123	SMIM7, OR7A1P, 108 more genes
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	SMIM7, BABAM1, 70 more genes
nsv3899292	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 14,883,158-16,788,770 , GRCh38.p12 chr19: 14,772,346-16,677,959	SMIM7, KLF2, 80 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	SMIM7, 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	SMIM7, 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	SMIM7, 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	SMIM7, BCKDHA, 1102 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	SMIM7, 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	SMIM7, 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	SMIM7, 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	SMIM7, 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	SMIM7, NR2F6, 56 more genes
nsv7095645	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 14,847,048-17,394,124 , GRCh38.p12 chr19: 14,736,236-17,283,315	SMIM7, HAUS8, 95 more genes
nsv3916911	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 16,595,955-16,783,029 , GRCh38 chr19: 16,485,144-16,672,218 , NCBI36 chr19: 16,456,955-16,644,029	SMIM7, RN7SL146P, 8 more genes

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smim7[All Fields] AND 1[has_clinical] (17)
dbVar
References - Retinal Prostheses in the Medicare Population
References - Retinal Prostheses in the Medicare Population

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