edem2[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3912723	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr20: 30,288,202-45,731,170 , GRCh37.p13 chr20: 30,824,541-46,297,763 , GRCh38.p12 chr20: 32,236,738-47,669,019	EDEM2, LOC107985448, 370 more genes
nsv3910049	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr20: 33,289,165-45,693,969 , GRCh37 chr20: 33,825,749-46,260,562 , GRCh38 chr20: 35,237,946-47,631,818	NDUFB4P10, EIF4EBP2P1, 291 more genes
nsv3913594	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 32,020,169-35,450,284 , NCBI36 chr20: 31,483,830-34,883,698 , GRCh38 chr20: 33,432,363-36,821,881	EDEM2, AHCY, 93 more genes
nsv6311078	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 31,189,994-34,287,210 , GRCh38.p12 chr20: 32,602,192-35,699,288	EDEM2, EIF2S2, 93 more genes
nsv3892750	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,961,294 , GRCh38.p12 chr20: 82,603-64,329,941	EDEM2, TGIF2-RAB5IF, 1314 more genes
nsv3905072	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,948,788 , GRCh38.p12 chr20: 82,603-64,317,435	EDEM2, LRRN4, 1313 more genes
nsv3895314	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr20: 61,569-62,915,555 , GRCh38.p12 chr20: 80,928-64,284,202	EDEM2, PKIG, 1311 more genes
nsv3896520	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,912,463 , GRCh38.p12 chr20: 82,603-64,281,110	EDEM2, COMMD7, 1311 more genes
nsv3920218	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118	EDEM2, MIR3646, 1310 more genes
nsv3910142	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 9,792,081-37,945,599 , GRCh38 chr20: 9,811,433-39,316,956 , NCBI36 chr20: 9,740,081-37,379,013	EDEM2, DYNLRB1, 555 more genes
nsv3918053	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr20: 25,703,100-38,491,480 , GRCh37.p13 chr20: 25,755,100-39,058,066 , GRCh38.p12 chr20: 25,774,464-40,429,426	EDEM2, MYH7B, 300 more genes
nsv6313956	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 25,442,597-33,761,550 , GRCh38.p12 chr20: 25,461,961-35,173,747	EDEM2, LOC105372586, 193 more genes
nsv4457806	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 29,833,608-35,087,952 , GRCh38.p12 chr20: 31,245,805-36,459,549	EDEM2, EFCAB8, 162 more genes
nsv3920503	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr20: 32,062,768-35,906,606 , NCBI36 chr20: 30,114,232-33,957,942 , GRCh37 chr20: 30,650,571-34,494,528	EDEM2, UQCC1, 111 more genes
nsv3913986	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr20: 33,103,319-33,489,663 , GRCh37 chr20: 33,639,658-34,026,249 , GRCh38 chr20: 35,051,855-35,438,457	EDEM2, EIF6, 12 more genes
nsv6291578	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr20: 18,665,879-33,903,216 , GRCh38.p12 chr20: 18,685,235-35,315,413	EDEM2, AHCY, 330 more genes
nsv6637546	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr20: 29,652,122-35,603,726 , GRCh38.p12 chr20: 30,417,446-36,975,323	EDEM2, AHCY, 195 more genes
nsv6637725	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr20: 29,833,535-34,815,537 , GRCh38.p12 chr20: 31,245,732-36,227,615	EDEM2, AHCY, 160 more genes
nsv3887865	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr20: 31,996,293-33,761,838 , GRCh38.p12 chr20: 33,408,487-35,174,035	EDEM2, PXMP4, 42 more genes
nsv3910818	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr20: 25,616,026-62,435,964 , GRCh37.p13 chr20: 25,668,026-62,965,520 , GRCh38.p12 chr20: 25,687,390-64,334,167	EDEM2, RNA5SP481, 855 more genes

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Items: 20

Number of Variants: 20

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