ahdc1[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
nsv3318992	copy number variation	1	nstd45	human	Pathogenic	GRCh38.p12 chr1: 27,534,245-27,603,632 , GRCh37 chr1: 27,860,756-27,930,143	AHDC1
nsv6634499	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 27,874,052-27,874,108 , GRCh38 chr1: 27,547,541-27,547,597	AHDC1
nsv6290149	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 27,491,184-27,584,566 , GRCh37.p13 chr1: 27,817,695-27,911,077	AHDC1, LOC105376892
nsv6314276	complex chromosomal rearrangement	2	nstd102	human	Pathogenic	GRCh37 chr5: 138,665,757-138,665,757 , GRCh37 chr5: 138,665,751-138,665,751 , GRCh38.p12 chr5: 139,330,062-139,330,062 , GRCh38.p12 chr5: 139,330,068-139,330,068 , GRCh38.p12 chr1: 27,600,073-27,600,073 , GRCh38.p12 chr1: 27,600,085-27,600,085 , GRCh37 chr1: 27,926,596-27,926,596 , GRCh37 chr1: 27,926,584-27,926,584	AHDC1, MATR3
nsv3896439	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 26,807,012-27,685,191 , NCBI36 chr1: 27,006,090-27,884,289 , GRCh37 chr1: 27,133,503-28,011,702	AHDC1, IFI6, 37 more genes
nsv3881533	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 27,488,298-28,138,628 , GRCh38.p12 chr1: 27,161,807-27,812,117	AHDC1, IFI6, 25 more genes
nsv3900580	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 27,800,220-28,088,539 , GRCh37 chr1: 27,927,633-28,215,952 , GRCh38 chr1: 27,601,122-27,889,441	AHDC1, IFI6, 13 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	AHDC1, 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	AHDC1, 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	AHDC1, 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	AHDC1, TMEM222, 453 more genes
nsv3907483	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 27,289,536-32,744,646 , GRCh38 chr1: 26,963,045-32,279,045 , NCBI36 chr1: 27,162,123-32,517,233	AHDC1, ATP5IF1, 138 more genes
nsv3898321	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr1: 26,854,636-27,645,829 , NCBI36 chr1: 27,053,714-27,844,927 , GRCh37 chr1: 27,181,127-27,972,340	AHDC1, NR0B2, 31 more genes
nsv3907304	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 27,755,852-28,026,075 , NCBI36 chr1: 27,628,439-27,898,662 , GRCh38 chr1: 27,429,343-27,699,564	AHDC1, RNU6-949P, 8 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	AHDC1, LINC01776, 1853 more genes
nsv6313753	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 27,543,877-32,819,121 , GRCh38.p12 chr1: 27,217,386-32,353,520	AHDC1, DCDC2B, 130 more genes

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