myoz1[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
nsv7137209	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 12,829,206-135,427,143 , GRCh38.p12 chr10: 12,787,207-133,613,639	MYOZ1, RNU7-12P, 1876 more genes
nsv3922335	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 60,196,226-76,174,974 , GRCh38 chr10: 58,436,466-74,415,216 , NCBI36 chr10: 59,866,232-75,844,980	MYOZ1, UNC5B-AS1, 250 more genes
nsv3917822	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr10: 63,402,579-75,296,099 , GRCh37 chr10: 65,162,339-77,055,857 , NCBI36 chr10: 64,832,345-76,725,863	MYOZ1, MYL6P3, 220 more genes
nsv6314185	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 68,735,254-78,885,714 , GRCh38.p12 chr10: 66,975,496-77,125,956	MYOZ1, SLC25A16, 204 more genes
nsv3910545	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr10: 74,150,392-77,042,138 , GRCh38 chr10: 72,720,628-75,612,374 , GRCh37 chr10: 74,480,386-77,372,132	MYOZ1, CAMK2G, 73 more genes
nsv3906389	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 73,232-135,524,321 , GRCh38.p12 chr10: 27,296-133,786,996	MYOZ1, LOC100419870, 2105 more genes
nsv3891157	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 98,087-135,477,883 , GRCh38.p12 chr10: 52,147-133,740,558	MYOZ1, AGAP14P, 2097 more genes
nsv3902271	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr10: 100,027-135,427,143 , GRCh38.p12 chr10: 54,087-133,613,639	MYOZ1, ANXA11, 2085 more genes
nsv3891958	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 93,297-135,378,918 , GRCh38.p12 chr10: 47,357-133,565,414	MYOZ1, TUBB8, 2085 more genes
nsv7137211	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 11,138,692-135,427,143 , GRCh38.p12 chr10: 11,096,729-133,613,639	MYOZ1, EXOC6, 1906 more genes
nsv3924859	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr10: 52,159,133-88,896,941 , GRCh38 chr10: 50,729,367-87,147,204 , GRCh37 chr10: 52,489,127-88,906,961	MYOZ1, BMS1P4-AGAP5, 471 more genes
nsv3917047	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr10: 42,500,760-75,145,672 , GRCh37 chr10: 43,180,754-75,475,666 , GRCh38 chr10: 42,685,306-73,715,908	MYOZ1, SLC9A3P3, 476 more genes
nsv3891070	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 69,040,366-93,194,993 , GRCh38.p12 chr10: 67,280,608-91,435,236	MYOZ1, NRG3-AS1, 441 more genes
nsv3917966	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr10: 68,626,331-80,851,819 , GRCh37 chr10: 68,956,325-81,181,813 , GRCh38 chr10: 67,196,567-79,422,057	MYOZ1, LINC02640, 231 more genes
nsv3907664	copy number variation	1	nstd102	human	drug response	GRCh37 chr10: 42,347,406-135,534,747 , GRCh38.p12 chr10: 42,101,241-133,787,422	MYOZ1, SHOC2, 1487 more genes
nsv4456093	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr10: 75,251,395-75,763,287 , GRCh38.p12 chr10: 73,491,637-74,003,529	MYOZ1, ZSWIM8-AS1, 23 more genes
nsv3894848	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr10: 75,179,409-76,009,153 , GRCh38.p12 chr10: 73,419,651-74,249,395	MYOZ1, AGAP5, 27 more genes

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myoz1[All Fields] AND 1[has_clinical] (18)
dbVar
small ribosomal subunit protein eS24 isoform d [Homo sapiens]
small ribosomal subunit protein eS24 isoform d [Homo sapiens]
gi|214010226|ref|NP_001135757.1|

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