shank1[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
nsv3904885	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923	SHANK1, 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	SHANK1, 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	SHANK1, LENG8, 2408 more genes
nsv3919076	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 48,432,832-59,083,573 , NCBI36 chr19: 53,124,644-63,775,385 , GRCh38 chr19: 47,929,575-58,572,206	SHANK1, KCNA7, 697 more genes
nsv3911950	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 48,411,797-59,051,332 , NCBI36 chr19: 53,103,609-63,743,144 , GRCh38 chr19: 47,908,540-58,539,965	SHANK1, LOC107987270, 694 more genes
nsv4676357	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 44,738,088-53,621,561 , GRCh38.p12 chr19: 44,233,935-53,118,308	SHANK1, MIR4324, 485 more genes
nsv3924732	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 49,907,832-58,557,889 , GRCh37 chr19: 50,411,089-59,069,256 , NCBI36 chr19: 55,102,901-63,761,068	SHANK1, RPL39P37, 556 more genes
nsv4729755	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 48,463,931-57,095,254 , GRCh38.p12 chr19: 47,960,674-56,583,886	SHANK1, SIGLEC5, 574 more genes
nsv3890862	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 50,489,390-59,095,359 , GRCh38.p12 chr19: 49,986,133-58,583,992	SHANK1, SIGLECL1, 552 more genes
nsv3923909	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 55,347,589-63,784,382 , GRCh37 chr19: 50,655,777-59,092,570 , GRCh38 chr19: 50,152,520-58,581,203	SHANK1, OSCAR, 535 more genes
nsv3891963	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 50,740,074-59,097,160 , GRCh38.p12 chr19: 50,236,817-58,585,793	SHANK1, RPS9, 535 more genes
nsv3916611	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 50,694,476-59,047,185 , NCBI36 chr19: 55,386,288-63,738,997 , GRCh38 chr19: 50,191,219-58,535,818	SHANK1, RNU6-980P, 526 more genes
nsv6313906	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr19: 49,911,081-53,127,438 , GRCh38.p12 chr19: 49,407,824-52,624,185	SHANK1, AP2A1, 212 more genes
nsv4685764	copy number variation	1	nstd102	human	not provided	GRCh37 chr19: 47,939,842-54,626,871 , GRCh38.p12 chr19: 47,436,585-54,071,460	SHANK1, SNAR-G1, 453 more genes
nsv4457465	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 49,600,909-51,366,070 , GRCh38.p12 chr19: 49,097,652-50,862,814	SHANK1, MED25, 117 more genes
nsv4676347	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 50,469,730-51,916,485 , GRCh38.p12 chr19: 49,966,473-51,413,231	SHANK1, VRK3, 93 more genes
nsv6637438	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 50,883,114-51,304,591 , GRCh38.p12 chr19: 50,379,857-50,801,334	SHANK1, SMIM47, 21 more genes

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