echs1[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
nsv3888248	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 135,175,966-135,182,426 , GRCh38 chr10: 133,362,462-133,368,922	ECHS1
nsv6308902	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	GRCh37 chr10: 135,176,372-135,180,517 , GRCh38.p12 chr10: 133,362,868-133,367,013	ECHS1
nsv6308986	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr10: 135,176,372-135,186,837 , GRCh38.p12 chr10: 133,362,868-133,373,333	ECHS1, MIR3944
nsv6309142	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr10: 135,178,142-135,186,837 , GRCh38.p12 chr10: 133,364,638-133,373,333	ECHS1, MIR3944
nsv7137209	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 12,829,206-135,427,143 , GRCh38.p12 chr10: 12,787,207-133,613,639	ECHS1, RNU7-12P, 1876 more genes
nsv3920295	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr10: 81,675,342-135,374,737 , GRCh37.p13 chr10: 81,685,362-135,524,747 , GRCh38.p12 chr10: 79,925,606-133,787,422	ECHS1, EIF2S2P3, 895 more genes
nsv3909943	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 122,213,942-135,434,178 , GRCh38 chr10: 120,454,430-133,620,674 , NCBI36 chr10: 122,203,932-135,284,168	ECHS1, TEX36-AS1, 198 more genes
nsv3892639	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 122,443,197-135,477,883 , GRCh38.p12 chr10: 120,683,685-133,740,558	ECHS1, OR6L2P, 208 more genes
nsv3896819	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 122,343,861-135,427,143 , GRCh38.p12 chr10: 120,584,349-133,613,639	ECHS1, MMP21, 198 more genes
nsv3906646	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 122,509,781-135,427,143 , GRCh38.p12 chr10: 120,750,269-133,613,639	ECHS1, LOC105378560, 196 more genes
nsv7098893	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 122,610,933-135,439,810 , GRCh38.p12 chr10: 120,851,421-133,626,306	ECHS1, LOC105378571, 196 more genes
nsv3919728	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr10: 120,970,558-133,622,588 , NCBI36 chr10: 122,720,061-135,286,082 , GRCh37 chr10: 122,730,071-135,436,092	ECHS1, BANF1P2, 194 more genes
nsv5980446	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 122,785,023-135,457,222 , GRCh38.p12 chr10: 121,025,510-133,643,718	ECHS1, LINC02641, 194 more genes
nsv3909245	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 123,019,239-135,427,143 , GRCh38.p12 chr10: 121,259,725-133,613,639	ECHS1, LOC105378565, 187 more genes
nsv3921792	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr10: 123,338,496-135,284,168 , GRCh37 chr10: 123,348,506-135,434,178 , GRCh38 chr10: 121,588,992-133,620,674	ECHS1, LINC02641, 185 more genes
nsv7137208	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 123,477,898-135,427,143 , GRCh38.p12 chr10: 121,718,384-133,613,639	ECHS1, ZRANB1, 182 more genes
nsv3919634	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr10: 121,918,547-133,620,674 , GRCh37 chr10: 123,678,062-135,434,178 , NCBI36 chr10: 123,668,052-135,284,168	ECHS1, LOC107984185, 182 more genes
nsv1398004	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 123,731,209-135,353,867 , GRCh38.p12 chr10: 121,971,694-133,540,363	ECHS1, C10orf88B, 177 more genes
nsv3916315	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr10: 122,265,252-133,620,674 , GRCh37 chr10: 124,024,767-135,434,178 , NCBI36 chr10: 124,014,757-135,284,168	ECHS1, EBF3-AS1, 178 more genes
nsv3907402	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 124,147,428-135,370,736 , GRCh38.p12 chr10: 122,387,912-133,557,232	ECHS1, BNIP3, 174 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 117

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Number of Variants: 20

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Supplemental Content

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