ebr1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 14

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Number of Variants: 14

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5673564	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 48,601,829-48,632,780 , GRCh38.p12 chr3: 48,564,396-48,595,347	MIR711, COL7A1
nsv5673730	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 48,602,206-48,617,500 , GRCh38.p12 chr3: 48,564,773-48,580,067	MIR711, COL7A1
nsv1398424	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 48,600,388-48,624,921 , GRCh38 chr3: 48,562,955-48,587,488	UCN2, MIR711, 1 more genes
nsv6315166	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 44,948,482-49,115,809 , GRCh38.p12 chr3: 44,906,990-49,078,376	TMEM89, TGM4, 129 more genes
nsv5673729	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 48,507,870-50,340,407 , GRCh38.p12 chr3: 48,466,471-50,302,976	SEMA3B-AS1, GNAT1, 87 more genes
nsv4674083	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 48,346,677-49,630,228 , GRCh38.p12 chr3: 48,305,187-49,592,795	MIR6823, NCKIPSD, 59 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	RNU4-62P, SEMA3B-AS1, 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	NDUFB4, LOC105374108, 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	RPL23AP49, DLEC1, 2875 more genes
nsv4347762	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 45,153,770-53,878,616 , GRCh38.p12 chr3: 45,112,278-53,844,589	UQCRC1, DHX30, 291 more genes
nsv3921797	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 45,896,379-50,762,357 , GRCh38 chr3: 45,879,883-50,749,922 , GRCh37 chr3: 45,921,375-50,787,353	RBM5-AS1, PRSS42P, 185 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	ACAA1, ACVR2B, 344 more genes
nsv3879581	copy number variation	1	nstd102	human	Benign	GRCh37 chr3: 48,505,831-48,641,197 , GRCh38.p12 chr3: 48,464,432-48,603,764	SNORA94, COL7A1, 9 more genes
nsv7096805	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 45,435,946-49,137,751 , GRCh38.p12 chr3: 45,394,454-49,100,318	SNORA94, LIMD1-AS1, 120 more genes

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ebr1[All Fields] AND 1[has_clinical] (15)
dbVar
shld2 shieldin complex subunit 2 [Danio rerio]
shld2 shieldin complex subunit 2 [Danio rerio]
Gene ID:100149820

Gene

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