sptbn2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 15

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Number of Variants: 15

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3909645	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 66,456,590-66,475,184 , GRCh38.p12 chr11: 66,689,119-66,707,713	SPTBN2
nsv3909001	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 66,457,639-66,475,184 , GRCh38.p12 chr11: 66,690,168-66,707,713	SPTBN2
nsv3908620	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 66,468,173-66,475,184 , GRCh38.p12 chr11: 66,700,702-66,707,713	SPTBN2
nsv5380796	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397	SPTBN2, FAUP4, 2031 more genes
nsv3921639	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr11: 65,265,478-67,229,716 , GRCh37 chr11: 65,508,902-67,473,140 , GRCh38 chr11: 65,741,431-67,705,669	SPTBN2, MIR6860, 106 more genes
nsv3893233	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 70,864-134,938,470 , GRCh38.p12 chr11: 70,864-135,068,576	SPTBN2, LOC105376598, 2842 more genes
nsv3900144	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 198,510-134,934,063 , GRCh38.p12 chr11: 198,510-135,064,169	SPTBN2, RTN3, 2833 more genes
nsv3908873	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576	SPTBN2, IGHMBP2, 2829 more genes
nsv6315537	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 32,799,481-134,938,470 , GRCh38.p12 chr11: 32,777,935-135,068,576	SPTBN2, PYGM, 2125 more genes
nsv4349000	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 65,138,976-67,574,402 , GRCh38.p12 chr11: 65,371,505-67,806,931	SPTBN2, SNORD13F, 141 more genes
nsv3911732	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 66,193,502-67,890,770 , GRCh37 chr11: 65,960,973-67,658,241 , NCBI36 chr11: 65,717,549-67,414,817	SPTBN2, B4GAT1, 90 more genes
nsv3902272	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 64,501,919-67,129,258 , GRCh38.p12 chr11: 64,734,447-67,361,787	SPTBN2, ACTN3, 157 more genes
nsv6290938	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 65,963,737-66,581,485 , GRCh38.p12 chr11: 66,196,266-66,814,014	SPTBN2, CCS, 38 more genes
nsv7094093	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr11: 64,973,914-70,052,579 , GRCh38.p12 chr11: 65,206,443-70,206,473	SPTBN2, B4GAT1, 208 more genes
nsv3904873	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 66,024,774-67,430,781 , GRCh38.p12 chr11: 66,257,303-67,663,310	SPTBN2, B4GAT1-DT, 79 more genes

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