ptrh1[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
nsv4675346	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,363,849-130,455,691 , GRCh38.p12 chr9: 127,601,570-127,693,412	PTRH1, STXBP1, 1 more genes
nsv3895169	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,373,225-130,453,427 , GRCh38.p12 chr9: 127,610,946-127,691,148	PTRH1, MIR3911, 1 more genes
nsv4681296	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,374,663-130,453,156 , GRCh38.p12 chr9: 127,612,384-127,690,877	PTRH1, STXBP1, 1 more genes
nsv4685697	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,435,492-130,485,618 , GRCh38.p12 chr9: 127,673,213-127,723,339	PTRH1, CFAP157, 3 more genes
nsv4681549	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,413,862-130,453,156 , GRCh38.p12 chr9: 127,651,583-127,690,877	PTRH1, STXBP1, 1 more genes
nsv4683503	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,443,991-130,454,451 , GRCh38.p12 chr9: 127,681,712-127,692,172	PTRH1, STXBP1, 1 more genes
nsv997143	copy number variation	1	nstd45	human	Pathogenic	GRCh38.p12 chr9: 127,612,207-127,692,716 , GRCh37 chr9: 130,374,486-130,454,995	PTRH1, STXBP1, 1 more genes
nsv3889135	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr9: 130,440,690-130,453,156 , GRCh38 chr9: 127,678,411-127,690,877	PTRH1, STXBP1, 1 more genes
nsv6314154	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,306,022-130,522,616 , GRCh38.p12 chr9: 127,543,743-127,760,337	PTRH1, STXBP1, 6 more genes
nsv4350379	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,335,766-130,517,907 , GRCh38.p12 chr9: 127,573,487-127,755,628	PTRH1, STXBP1, 6 more genes
nsv6314148	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,392,953-130,526,044 , GRCh38.p12 chr9: 127,630,674-127,763,765	PTRH1, STXBP1, 5 more genes
nsv3899776	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 129,370,440-133,866,894 , GRCh38.p12 chr9: 126,608,161-130,991,507	PTRH1, FNBP1, 136 more genes
nsv3917587	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr9: 127,795,683-131,484,475 , GRCh38 chr9: 125,993,583-129,682,375 , GRCh37 chr9: 128,755,862-132,444,654	PTRH1, DYNC2I2, 115 more genes
nsv3924370	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr9: 126,857,965-130,440,046 , GRCh38 chr9: 125,055,865-128,637,946 , GRCh37 chr9: 127,818,144-131,400,225	PTRH1, MVB12B, 97 more genes
nsv3903209	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,390,139-132,760,275 , GRCh38.p12 chr9: 127,627,860-129,997,996	PTRH1, DOLK, 99 more genes
nsv4768372	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 128,512,347-130,702,572 , GRCh38.p12 chr9: 125,750,068-127,940,293	PTRH1, LOC105379841, 47 more genes
nsv3897949	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 129,079,208-130,851,795 , GRCh38.p12 chr9: 126,316,929-128,089,516	PTRH1, EEIG1, 44 more genes
nsv3921944	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr9: 126,081,595-127,781,685 , NCBI36 chr9: 127,883,695-129,583,785 , GRCh37 chr9: 128,843,874-130,543,964	PTRH1, LOC101929116, 30 more genes
nsv5564479	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	GRCh37 chr9: 129,376,729-131,016,993 , GRCh38.p12 chr9: 126,614,450-128,254,714	PTRH1, PIP5KL1, 50 more genes
nsv4768374	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,412,438-131,423,964 , GRCh38.p12 chr9: 127,650,159-128,661,685	PTRH1, COQ4, 53 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 52

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Number of Variants: 20

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