atxn7[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 13

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Number of Variants: 13

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3916461	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 57,174,452-90,309,110 , NCBI36 chr3: 57,149,492-90,391,800 , GRCh38 chr3: 57,140,424-90,259,960	ATXN7, LOC105377171, 323 more genes
nsv3919181	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 54,045,018-66,060,461 , GRCh37 chr3: 54,079,045-66,046,136 , NCBI36 chr3: 54,054,085-66,021,176	ATXN7, MAGI1-AS1, 135 more genes
nsv6290933	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 59,332,508-70,686,155 , GRCh38.p12 chr3: 59,346,782-70,637,004	ATXN7, NDUFB4P1, 110 more genes
nsv4452524	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 57,076,136-65,716,956 , GRCh38.p12 chr3: 57,042,108-65,731,281	ATXN7, LOC105377114, 110 more genes
nsv3917204	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 57,430,538-64,884,522 , NCBI36 chr3: 57,391,305-64,845,237 , GRCh37 chr3: 57,416,265-64,870,197	ATXN7, C3orf49, 93 more genes
nsv3922383	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 61,956,521-68,514,983 , NCBI36 chr3: 61,931,561-68,597,673 , GRCh38 chr3: 61,970,847-68,465,832	ATXN7, UBL5P3, 73 more genes
nsv4674306	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 60,449,667-65,561,638 , GRCh38.p12 chr3: 60,463,934-65,575,963	ATXN7, THOC7-AS1, 56 more genes
nsv3885606	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156	ATXN7, RNU4-62P, 2880 more genes
nsv3889228	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115	ATXN7, NDUFB4, 2876 more genes
nsv3880617	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391	ATXN7, RPL23AP49, 2875 more genes
nsv4450340	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 60,844,727-63,983,596 , GRCh38.p12 chr3: 60,859,055-63,997,920	ATXN7, RNU2-10P, 29 more genes
nsv3920449	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr3: 63,822,831-64,433,817 , NCBI36 chr3: 63,783,547-64,394,533 , GRCh37 chr3: 63,808,507-64,419,493	ATXN7, THOC7, 12 more genes
nsv4674813	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 62,206,958-63,944,889 , GRCh38.p12 chr3: 62,221,284-63,959,213	ATXN7, RNA5SP134, 22 more genes

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