echdc1[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
nsv3920683	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr6: 109,372,795-132,430,553 , GRCh37 chr6: 109,266,102-132,388,860 , GRCh38 chr6: 108,944,899-132,067,720	ECHDC1, SSXP10, 298 more genes
nsv6315321	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr6: 115,941,808-133,892,653 , GRCh37.p13 chr6: 116,262,971-134,213,791	ECHDC1, SLC18B1, 223 more genes
nsv7148249	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr6: 113,857,248-130,442,177 , GRCh37.p13 chr6: 114,178,427-130,763,322	ECHDC1, TRDN-AS1, 179 more genes
nsv3924661	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr6: 115,601,230-128,514,324 , GRCh37 chr6: 115,922,394-128,835,469 , NCBI36 chr6: 116,029,087-128,877,162	ECHDC1, MCM9, 146 more genes
nsv3875316	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 122,612,641-131,564,463 , GRCh38.p12 chr6: 122,291,495-131,243,323	ECHDC1, TRDN, 88 more genes
nsv6313868	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 122,839,432-128,801,386 , GRCh38.p12 chr6: 122,518,287-128,480,241	ECHDC1, TRMT11, 61 more genes
nsv6290727	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 125,037,475-129,494,795 , GRCh38.p12 chr6: 124,716,329-129,173,650	ECHDC1, LOC100287856, 56 more genes
nsv3911415	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 126,576,700-129,752,871 , GRCh38 chr6: 126,255,554-129,431,726 , NCBI36 chr6: 126,618,393-129,794,564	ECHDC1, LOC100420743, 38 more genes
nsv3877040	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 60,107-171,054,786 , GRCh38.p12 chr6: 60,107-170,745,698	ECHDC1, LOC105378061, 2914 more genes
nsv3879811	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 108,666-170,980,171 , GRCh38.p12 chr6: 108,666-170,671,083	ECHDC1, RNU6-411P, 2910 more genes
nsv3887898	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr6: 156,975-170,919,482 , GRCh38.p12 chr6: 156,975-170,610,394	ECHDC1, SOD1P1, 2905 more genes
nsv3889814	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 165,632-170,919,470 , GRCh38.p12 chr6: 165,632-170,610,382	ECHDC1, ITPR3, 2905 more genes
nsv3919111	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr6: 74,382,807-142,040,500 , NCBI36 chr6: 75,149,243-142,403,330 , GRCh37 chr6: 75,092,523-142,361,637	ECHDC1, RNU6-770P, 810 more genes
nsv3915150	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr6: 124,322,082-156,156,864 , GRCh37.p13 chr6: 124,280,383-156,115,172 , GRCh38.p12 chr6: 123,959,238-155,794,038	ECHDC1, KATNA1, 422 more genes
nsv3913689	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr6: 121,373,749-146,289,101 , GRCh37.p13 chr6: 121,332,050-146,247,408 , GRCh38.p12 chr6: 121,010,904-145,926,272	ECHDC1, TPD52L1, 316 more genes
nsv3914024	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr6: 126,857,372-132,860,687 , GRCh37 chr6: 126,815,679-132,818,994 , GRCh38 chr6: 126,494,533-132,497,855	ECHDC1, ARG1, 74 more genes
nsv3885137	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr6: 127,303,904-128,482,021 , GRCh38.p12 chr6: 126,982,759-128,160,876	ECHDC1, C6orf58, 21 more genes
nsv3893140	copy number variation	1	nstd102	human	drug response	GRCh37 chr6: 112,939,290-132,327,952 , GRCh38.p12 chr6: 112,618,088-132,006,812	ECHDC1, LOC105377998, 220 more genes
nsv6636864	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr6: 120,059,951-130,033,233 , GRCh38.p12 chr6: 119,738,805-129,712,088	ECHDC1, LOC107986640, 93 more genes
nsv3922290	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr6: 125,342,919-128,092,979 , GRCh38 chr6: 125,021,773-127,771,834 , NCBI36 chr6: 125,384,618-128,134,672	ECHDC1, THEMIS, 45 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 22

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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