pdzd7[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
nsv7093778	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 102,783,173-102,783,845 , GRCh38.p12 chr10: 101,023,416-101,024,088	PDZD7
nsv4674032	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 215,901,727-215,940,022 , GRCh38.p12 chr1: 215,728,385-215,766,680	USH2A
nsv6290673	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 216,184,673-216,184,786 , GRCh38 chr1: 216,011,331-216,011,444	USH2A
nsv6634513	copy number variation	1	nstd102	human	Likely pathogenic	GRCh38 chr1: 216,108,034-216,108,100 , GRCh37.p13 chr1: 216,281,376-216,281,442	USH2A
nsv7093439	delins	1	nstd102	human	Likely pathogenic	GRCh38 chr10: 101,017,287-101,018,201 , GRCh37 chr10: 102,777,044-102,777,958	PDZD7
nsv7148060	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr10: 101,010,331-101,010,332 , GRCh37 chr10: 102,770,088-102,770,089	PDZD7
nsv7137087	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 216,138,660-216,270,555 , GRCh38.p12 chr1: 215,965,318-216,097,213	USH2A, USH2A-AS2
nsv3877378	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 215,667,901-215,927,476 , GRCh38.p12 chr1: 215,494,558-215,754,134	KCTD3, USH2A
nsv3883920	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 216,144,119-216,591,855 , GRCh38 chr1: 215,970,777-216,418,513	USH2A, USH2A-AS2, 2 more genes
nsv3870906	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 216,073,301-216,364,952 , GRCh37.p13 chr1: 216,246,643-216,538,294	USH2A, MRPS18BP1, 2 more genes
nsv7148176	copy number variation	1	nstd102	human	Likely pathogenic	GRCh38 chr1: 216,190,126-216,251,196 , GRCh37.p13 chr1: 216,363,468-216,424,538	USH2A, MRPS18BP1, 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	PDZD7, 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	PDZD7, EIF2S2P3, 895 more genes
nsv3911437	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr10: 93,181,201-101,356,779 , NCBI36 chr10: 94,930,948-103,106,526 , GRCh37 chr10: 94,940,958-103,116,536	PDZD7, SLF2, 171 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	PDZD7, 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	PDZD7, 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	PDZD7, 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	PDZD7, 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	PDZD7, 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	PDZD7, LOC105378476, 688 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 29

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Number of Variants: 20

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Supplemental Content

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