spata1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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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
nsv3879825	copy number variation	1	nstd102	human	Benign	GRCh37 chr1: 84,962,423-85,035,744 , GRCh38.p12 chr1: 84,496,740-84,570,061	SPATA1, RPF1, 2 more genes
nsv3901546	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 59,057,865-86,336,882 , GRCh37 chr1: 59,285,277-86,564,294 , GRCh38 chr1: 58,819,605-86,098,611	SPATA1, ROR1, 333 more genes
nsv6313574	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 68,180,293-92,731,957 , GRCh38.p12 chr1: 67,714,610-92,266,400	SPATA1, RNA5SP51, 315 more genes
nsv3886551	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 64,321,264-88,153,669 , GRCh38.p12 chr1: 63,855,593-87,687,986	SPATA1, RNU6-1102P, 291 more genes
nsv3885743	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 72,044,544-92,505,091 , GRCh38.p12 chr1: 71,578,861-92,039,534	SPATA1, ZNHIT6, 257 more genes
nsv4454000	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 67,851,233-86,101,340 , GRCh38.p12 chr1: 67,385,550-85,635,657	SPATA1, NEXN, 209 more genes
nsv3905989	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 76,884,987-89,094,147 , NCBI36 chr1: 76,657,575-88,866,735 , GRCh38 chr1: 76,419,302-88,628,464	SPATA1, DNAJB4, 146 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	SPATA1, MARK1, 4930 more genes
nsv3885206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793	SPATA1, SNAP47, 4927 more genes
nsv3884414	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485	SPATA1, RNU1-153P, 4887 more genes
nsv3898327	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 83,457,325-104,273,917 , GRCh37 chr1: 83,923,008-104,816,539 , NCBI36 chr1: 83,695,596-104,618,062	SPATA1, LINC01773, 322 more genes
nsv4728566	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 80,804,502-89,490,384 , GRCh38.p12 chr1: 80,338,817-89,024,701	SPATA1, CLCA1, 103 more genes
nsv4728342	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 84,959,733-85,087,864 , GRCh38.p12 chr1: 84,494,050-84,622,181	SPATA1, CTBS, 4 more genes
nsv4450384	copy number variation	1	nstd102	human	not provided	GRCh37 chr1: 66,085,524-88,429,789 , GRCh38.p12 chr1: 65,619,841-87,964,106	SPATA1, DEPDC1, 264 more genes
nsv1398038	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 84,662,362-85,035,719 , GRCh38.p12 chr1: 84,196,679-84,570,036	SPATA1, PRKACB, 7 more genes
nsv4436181	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532	SPATA1, LINC01776, 1853 more genes

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