pus1[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
nsv4683441	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 132,414,258-132,428,141 , GRCh38.p12 chr12: 131,929,713-131,943,596	PUS1
nsv6309404	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 132,423,708-132,423,830 , GRCh38.p12 chr12: 131,939,163-131,939,285	PUS1
nsv6309403	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 132,416,710-132,416,867 , GRCh38.p12 chr12: 131,932,165-131,932,322	PUS1
nsv6309305	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 132,414,268-132,428,131 , GRCh38.p12 chr12: 131,929,723-131,943,586	PUS1
nsv7094132	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 132,423,698-132,428,131 , GRCh38.p12 chr12: 131,939,153-131,943,586	PUS1
nsv3903020	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 132,401,039-132,409,252 , GRCh38.p12 chr12: 131,916,494-131,924,707	ULK1, PUS1-AS1
nsv3893570	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 132,401,085-132,409,252 , GRCh38.p12 chr12: 131,916,540-131,924,707	PUS1-AS1, ULK1
nsv3909816	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 132,393,315-132,560,241 , GRCh38.p12 chr12: 131,908,770-132,075,696	PUS1, PUS1-AS1, 3 more genes
nsv3917290	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr12: 130,975,140-131,130,284 , GRCh37.p13 chr12: 132,409,187-132,564,331 , GRCh38.p12 chr12: 131,924,642-132,079,786	PUS1, EP400, 2 more genes
nsv4455667	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 132,395,175-132,545,601 , GRCh38.p12 chr12: 131,910,630-132,061,056	PUS1, PUS1-AS1, 3 more genes
nsv4456101	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 132,343,915-132,462,319 , GRCh38.p12 chr12: 131,859,370-131,977,774	PUS1, PUS1-AS1, 2 more genes
nsv3911519	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 130,701,040-132,278,059 , GRCh38 chr12: 131,650,542-133,191,400 , GRCh37 chr12: 132,135,087-133,767,986	PUS1, GALNT9-AS1, 54 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	PUS1, RNA5SP369, 2454 more genes
nsv3905447	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316	PUS1, LOH12CR2, 2452 more genes
nsv3897722	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059	PUS1, RNU4ATAC16P, 2452 more genes
nsv3914194	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807	PUS1, BTG1P1, 2451 more genes
nsv3904719	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532	PUS1, OR5BT1P, 2441 more genes
nsv3913894	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 113,190,591-132,287,975 , GRCh38 chr12: 114,268,403-133,201,316 , GRCh37 chr12: 114,706,208-133,777,902	PUS1, TAOK3, 386 more genes
nsv3924220	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 115,131,583-133,166,920 , NCBI36 chr12: 114,053,771-132,253,579 , GRCh37 chr12: 115,569,388-133,743,506	PUS1, LOC105370080, 376 more genes
nsv3920557	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 118,603,264-133,758,908 , GRCh38 chr12: 118,165,459-133,182,322 , NCBI36 chr12: 117,087,647-132,268,981	PUS1, TMED2, 339 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 42

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Number of Variants: 20

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Supplemental Content

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