col17a1[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
nsv3905399	copy number variation	1	nstd102	human	Benign	GRCh37 chr10: 105,675,946-105,791,929 , GRCh38.p12 chr10: 103,916,188-104,032,171	COL17A1, SLK, 3 more genes
nsv4728834	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr10: 105,839,235-105,890,455 , GRCh38.p12 chr10: 104,079,477-104,130,697	COL17A1, CFAP43, 1 more genes
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	COL17A1, 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	COL17A1, EIF2S2P3, 895 more genes
nsv3905499	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 104,030,479-115,410,590 , GRCh38.p12 chr10: 102,270,722-113,650,831	COL17A1, RPS15AP30, 156 more genes
nsv3916477	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr10: 104,481,920-115,834,854 , GRCh37 chr10: 104,491,930-115,844,864 , GRCh38 chr10: 102,732,173-114,085,105	COL17A1, XPNPEP1, 147 more genes
nsv3906389	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 73,232-135,524,321 , GRCh38.p12 chr10: 27,296-133,786,996	COL17A1, LOC100419870, 2105 more genes
nsv3891157	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 98,087-135,477,883 , GRCh38.p12 chr10: 52,147-133,740,558	COL17A1, AGAP14P, 2097 more genes
nsv3902271	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr10: 100,027-135,427,143 , GRCh38.p12 chr10: 54,087-133,613,639	COL17A1, ANXA11, 2085 more genes
nsv3891958	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 93,297-135,378,918 , GRCh38.p12 chr10: 47,357-133,565,414	COL17A1, TUBB8, 2085 more genes
nsv7137211	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 11,138,692-135,427,143 , GRCh38.p12 chr10: 11,096,729-133,613,639	COL17A1, EXOC6, 1906 more genes
nsv3905489	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 93,283,493-135,427,143 , GRCh38.p12 chr10: 91,523,736-133,613,639	COL17A1, LOC105378476, 688 more genes
nsv3890046	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 94,346,520-135,427,143 , GRCh38.p12 chr10: 92,586,763-133,613,639	COL17A1, UROS, 667 more genes
nsv3921919	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr10: 100,600,492-133,622,588 , GRCh37 chr10: 102,360,249-135,436,092 , NCBI36 chr10: 102,350,239-135,286,082	COL17A1, MIR4295, 508 more genes
nsv3898332	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 103,288,313-135,512,075 , GRCh38.p12 chr10: 101,528,556-133,774,750	COL17A1, NPS, 503 more genes
nsv3923769	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr10: 100,194,215-132,432,797 , GRCh37 chr10: 101,953,972-134,246,301 , NCBI36 chr10: 101,943,962-134,096,291	COL17A1, LOC105378493, 477 more genes
nsv3903027	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 105,613,040-135,427,143 , GRCh38.p12 chr10: 103,853,282-133,613,639	COL17A1, YWHAZP5, 415 more genes
nsv3909942	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 96,872,364-118,383,651 , GRCh38 chr10: 95,112,607-116,776,637 , NCBI36 chr10: 96,862,354-118,526,138	COL17A1, LOC102723665, 360 more genes
nsv3907664	copy number variation	1	nstd102	human	drug response	GRCh37 chr10: 42,347,406-135,534,747 , GRCh38.p12 chr10: 42,101,241-133,787,422	COL17A1, SHOC2, 1487 more genes
nsv3894450	copy number variation	1	nstd102	human	drug response	GRCh37 chr10: 85,557,432-105,804,295 , GRCh38.p12 chr10: 83,797,676-104,044,537	COL17A1, HPS1, 422 more genes

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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 24

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Number of Variants: 20

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Supplemental Content

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