pfn1[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
nsv4682665	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 4,802,021-4,851,699 , GRCh38.p12 chr17: 4,898,726-4,948,404	PFN1, CHRNE, 5 more genes
nsv3913013	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 162,016-7,697,012 , GRCh37 chr17: 45,835-7,600,330 , NCBI36 chr17: 11,807-7,541,055	PFN1, RPS4XP17, 289 more genes
nsv3915884	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 45,835-6,862,369 , GRCh38 chr17: 162,088-6,959,050 , NCBI36 chr17: 11,879-6,803,093	PFN1, LOC105371592, 222 more genes
nsv3922546	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 525-5,779,421 , GRCh38 chr17: 150,732-5,935,377 , GRCh37 chr17: 525-5,838,697	PFN1, CHRNE, 198 more genes
nsv4674912	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 8,547-5,627,408 , GRCh38.p12 chr17: 158,756-5,724,088	PFN1, SRR, 196 more genes
nsv3913795	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 43,098-5,496,266 , GRCh37 chr17: 45,835-5,555,542 , GRCh38 chr17: 193,307-5,652,222	PFN1, BHLHA9, 194 more genes
nsv3923152	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 3,451,558-7,022,067 , GRCh38 chr17: 3,601,515-7,178,024 , GRCh37 chr17: 3,504,809-7,081,343	PFN1, PSMB6, 133 more genes
nsv3920795	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 2,062,380-5,258,340 , NCBI36 chr17: 1,912,424-5,102,359 , GRCh37 chr17: 1,965,674-5,161,635	PFN1, LINC01996, 128 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	PFN1, 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	PFN1, 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	PFN1, 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	PFN1, 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	PFN1, 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	PFN1, KIF1C-AS1, 433 more genes
nsv3917059	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 45,835-12,247,218 , NCBI36 chr17: 11,807-12,187,943 , GRCh38 chr17: 162,016-12,343,901	PFN1, PSMB6, 409 more genes
nsv7148254	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 165,730-11,404,096 , GRCh37.p13 chr17: 396,627-11,307,413	PFN1, RFLNB, 401 more genes
nsv3904771	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 525-11,186,432 , GRCh38.p12 chr17: 150,732-11,283,115	PFN1, SLC2A4, 401 more genes
nsv3917777	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 50,690-7,394,448 , GRCh38 chr17: 198,748-7,491,129 , NCBI36 chr17: 48,539-7,335,172	PFN1, PAFAH1B1, 267 more genes
nsv4350781	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 47,546-6,287,620 , GRCh38.p12 chr17: 197,755-6,384,300	PFN1, SERPINF1, 201 more genes
nsv3904710	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 1,113,102-6,742,486 , GRCh38.p12 chr17: 1,209,808-6,839,167	PFN1, OR1A2, 197 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 36

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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