pomgnt2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 10

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6311985	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 43,121,181-43,122,923 , GRCh38.p12 chr3: 43,079,689-43,081,431	POMGNT2
nsv3888140	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr3: 43,079,669-43,081,451 , GRCh37 chr3: 43,121,161-43,122,943	POMGNT2
nsv3881275	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 41,104,508-44,636,698 , GRCh38.p12 chr3: 41,063,017-44,595,206	POMGNT2, LOC107986077, 69 more genes
nsv3885606	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156	POMGNT2, RNU4-62P, 2880 more genes
nsv3889228	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115	POMGNT2, NDUFB4, 2876 more genes
nsv3880617	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391	POMGNT2, RPL23AP49, 2875 more genes
nsv3885169	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 16,923,595-45,249,923 , GRCh38.p12 chr3: 16,884,818-45,208,431	POMGNT2, RNU6-243P, 382 more genes
nsv3883164	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr3: 37,028,313-49,929,220 , GRCh38.p12 chr3: 36,986,822-49,891,787	POMGNT2, ACAA1, 344 more genes
nsv6311795	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 40,924,962-43,760,024 , GRCh38.p12 chr3: 40,883,471-43,718,532	POMGNT2, VIPR1, 52 more genes
nsv6313629	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 42,984,620-43,656,876 , GRCh38.p12 chr3: 42,943,128-43,615,384	POMGNT2, RN7SL517P, 9 more genes

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