stk40[All Fields] AND 1[has_clinical] - dbVar - NCBI

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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
nsv6636592	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 35,104,233-37,357,913 , GRCh38.p12 chr1: 34,638,632-36,892,312	STK40, EFCAB14P1, 56 more genes
nsv3883608	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 34,830,287-36,945,093 , GRCh38.p12 chr1: 34,364,686-36,479,492	STK40, LSM10, 52 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	STK40, 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	STK40, 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	STK40, RNU1-153P, 4887 more genes
nsv3901163	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937	STK40, TMEM222, 453 more genes
nsv6313688	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139	STK40, LOC107984940, 407 more genes
nsv3874782	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 31,562,164-37,421,958 , GRCh38.p12 chr1: 31,089,317-36,956,357	STK40, LOC101929444, 143 more genes
nsv3893192	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr1: 36,172,405-37,060,187 , GRCh37 chr1: 36,399,818-37,287,600 , GRCh38 chr1: 35,934,217-36,821,999	STK40, COL8A2, 23 more genes
nsv6313765	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 36,041,366-39,112,237 , GRCh38.p12 chr1: 35,575,765-38,646,565	STK40, RNU6-510P, 78 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	STK40, LINC01776, 1853 more genes
nsv3878135	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841	STK40, LINC02786, 365 more genes
nsv4450729	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 36,496,921-36,829,945 , GRCh38.p12 chr1: 36,031,320-36,364,344	STK40, UBE2V2P4, 11 more genes

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