elac2[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
nsv6310121	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 12,920,159-12,920,458 , GRCh38.p12 chr17: 13,016,842-13,017,141	ELAC2
nsv6310055	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	GRCh37 chr17: 12,896,135-12,921,264 , GRCh38.p12 chr17: 12,992,818-13,017,947	ELAC2
nsv6310045	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 12,896,683-12,896,998 , GRCh38 chr17: 12,993,366-12,993,681	ELAC2
nsv4578258	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 12,895,843-12,921,307 , GRCh38.p12 chr17: 12,992,526-13,017,990	ELAC2
nsv6309964	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 12,896,135-12,909,316 , GRCh38.p12 chr17: 12,992,818-13,005,999	ELAC2
nsv5564311	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 12,896,201-12,896,263 , GRCh38.p12 chr17: 12,992,884-12,992,946	ELAC2
nsv7093605	insertion	1	nstd102	human	Uncertain significance	GRCh37 chr17: 12,920,236-12,920,236 , GRCh38 chr17: 13,016,919-13,016,919	ELAC2
nsv4675147	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr17: 12,914,534-13,474,612 , GRCh38.p12 chr17: 13,011,217-13,571,295	ELAC2, HS3ST3A1, 3 more genes
nsv4457566	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 12,788,987-12,964,015 , GRCh38.p12 chr17: 12,885,670-13,060,698	ELAC2, MIR1269B, 1 more genes
nsv4457844	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 12,789,234-12,949,662 , GRCh38.p12 chr17: 12,885,917-13,046,345	ELAC2, MIR1269B, 1 more genes
nsv3903684	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004	ELAC2, MIR3185, 2366 more genes
nsv3899740	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564	ELAC2, P4HB, 2366 more genes
nsv3906245	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251	ELAC2, MIR21, 2366 more genes
nsv3907261	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062	ELAC2, SMURF2, 2366 more genes
nsv3897625	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 525-15,027,737 , GRCh38.p12 chr17: 150,732-15,124,420	ELAC2, GP1BA, 439 more genes
nsv3915354	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 150,732-14,764,202 , NCBI36 chr17: 525-14,608,244 , GRCh37 chr17: 525-14,667,519	ELAC2, KIF1C-AS1, 433 more genes
nsv3917939	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 10,892,259-17,964,282 , NCBI36 chr17: 10,736,301-17,808,321 , GRCh37 chr17: 10,795,576-17,867,596	ELAC2, MIR744, 139 more genes
nsv6315277	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 11,915,997-17,892,664 , GRCh37.p13 chr17: 11,819,314-17,795,978	ELAC2, LINC02087, 135 more genes
nsv4684245	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 10,493,837-15,099,023 , GRCh38.p12 chr17: 10,590,520-15,195,706	ELAC2, LOC100506974, 52 more genes
nsv6291529	copy number variation	1	nstd102	human	not provided	GRCh37 chr17: 12,524,223-16,047,567 , GRCh38.p12 chr17: 12,620,906-16,144,253	ELAC2, LOC107984976, 64 more genes

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Number of Variants: 20

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 21

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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