pafah1b1[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
nsv7095136	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 2,541,583-2,573,645 , GRCh38.p12 chr17: 2,638,289-2,670,351	PAFAH1B1
nsv3916279	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 2,442,930-2,459,050 , GRCh37 chr17: 2,496,180-2,512,300 , GRCh38 chr17: 2,592,886-2,609,006	PAFAH1B1
nsv7093392	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 2,575,949-2,579,900 , GRCh38.p12 chr17: 2,672,655-2,676,606	PAFAH1B1
nsv7095082	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 2,573,437-2,576,071 , GRCh38.p12 chr17: 2,670,143-2,672,777	PAFAH1B1
nsv3900652	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 2,496,180-2,498,568 , GRCh38.p12 chr17: 2,592,886-2,595,274	PAFAH1B1
nsv7094864	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 2,568,646-2,570,512 , GRCh38.p12 chr17: 2,665,352-2,667,218	PAFAH1B1
nsv6310131	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 2,573,437-2,573,645 , GRCh38.p12 chr17: 2,670,143-2,670,351	PAFAH1B1
nsv7095137	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 2,568,646-2,579,920 , GRCh38.p12 chr17: 2,665,352-2,676,626	PAFAH1B1
nsv3871111	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 2,541,532-2,541,639 , GRCh38 chr17: 2,638,238-2,638,345	PAFAH1B1
nsv7095138	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 2,569,290-2,576,071 , GRCh38.p12 chr17: 2,665,996-2,672,777	PAFAH1B1
nsv6309973	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 2,541,583-2,541,634 , GRCh38.p12 chr17: 2,638,289-2,638,340	PAFAH1B1
nsv3914820	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 2,465,015-2,529,221 , GRCh37.p13 chr17: 2,518,265-2,582,471 , GRCh38.p12 chr17: 2,614,971-2,679,177	PAFAH1B1, RN7SL608P
nsv6309974	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	GRCh37 chr17: 2,568,646-2,585,096 , GRCh38.p12 chr17: 2,665,352-2,681,802	PAFAH1B1, RN7SL608P
nsv4578598	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 2,680,132-2,680,191 , GRCh37 chr17: 2,583,426-2,583,485	PAFAH1B1, RN7SL608P
nsv3915657	copy number variation	1	nstd102	human	Conflicting interpretations of pathogenicity	GRCh37 chr17: 2,502,864-2,528,223 , NCBI36 chr17: 2,449,614-2,474,973 , GRCh38 chr17: 2,599,570-2,624,929	PAFAH1B1, SAMD11P1
nsv6309975	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 2,573,437-2,585,096 , GRCh38.p12 chr17: 2,670,143-2,681,802	PAFAH1B1, RN7SL608P
nsv3879568	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 2,583,433-2,585,146 , GRCh38 chr17: 2,680,139-2,681,852	PAFAH1B1, RN7SL608P
nsv3896766	copy number variation	1	nstd102	human	Benign	GRCh37 chr17: 2,498,767-2,529,611 , GRCh38.p12 chr17: 2,595,473-2,626,317	PAFAH1B1, SAMD11P1
nsv3913315	copy number variation	1	nstd102	human	Likely benign	NCBI36 chr17: 2,449,627-2,475,038 , GRCh37 chr17: 2,502,877-2,528,288 , GRCh38 chr17: 2,599,583-2,624,994	PAFAH1B1, SAMD11P1
nsv7094961	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 2,585,003-2,585,096 , GRCh38.p12 chr17: 2,681,709-2,681,802	PAFAH1B1, RN7SL608P

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Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

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Items: 1 to 20 of 103

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Number of Variants: 20

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