elmo2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 12

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	ELMO2, 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	ELMO2, NDUFB4P10, 291 more genes
nsv6290315	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 42,985,044-48,599,046 , GRCh38.p12 chr20: 44,356,404-49,982,509	ELMO2, PABPC1L, 170 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	ELMO2, 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	ELMO2, 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	ELMO2, 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	ELMO2, 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	ELMO2, MIR3646, 1310 more genes
nsv3915005	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr20: 42,849,759-62,379,118 , GRCh37 chr20: 43,416,345-62,908,674 , GRCh38 chr20: 44,787,704-64,277,321	ELMO2, FTLP1, 472 more genes
nsv4674805	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr20: 34,980,430-46,806,549 , GRCh38.p12 chr20: 36,352,027-48,177,806	ELMO2, ADA, 266 more genes
nsv4457624	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr20: 45,002,981-45,243,034 , GRCh38.p12 chr20: 46,374,342-46,614,395	ELMO2, ZNF334, 6 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	ELMO2, RNA5SP481, 855 more genes

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