atp6v1h[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
nsv3897861	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr8: 54,606,702-54,692,283 , GRCh38.p12 chr8: 53,694,142-53,779,723	ATP6V1H, LOC100129667
nsv6291313	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr8: 54,475,345-54,756,939 , GRCh38.p12 chr8: 53,562,785-53,844,379	ATP6V1H, LOC100129667
nsv3893125	copy number variation	1	nstd102	human	Benign	GRCh37 chr8: 54,444,169-54,651,305 , GRCh38.p12 chr8: 53,531,609-53,738,745	ATP6V1H, LOC100129667, 2 more genes
nsv3893439	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 49,822,483-58,822,602 , GRCh38.p12 chr8: 48,909,924-57,910,043	ATP6V1H, SEPTIN10P1, 110 more genes
nsv3911944	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 54,237,949-62,775,577 , GRCh38 chr8: 53,325,389-61,863,018 , NCBI36 chr8: 54,400,502-62,938,131	ATP6V1H, SOX17, 119 more genes
nsv3924755	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 50,546,890-58,900,583 , GRCh37 chr8: 50,384,337-58,738,029 , GRCh38 chr8: 49,471,778-57,825,470	ATP6V1H, LOC105375849, 103 more genes
nsv3919070	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 54,569,654-58,566,126 , GRCh37.p13 chr8: 54,407,101-58,403,572 , GRCh38.p12 chr8: 53,494,541-57,491,013	ATP6V1H, BPNT2, 73 more genes
nsv3915173	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 3,938-146,274,826 , GRCh37.p13 chr8: 13,938-146,304,022 , GRCh38.p12 chr8: 63,938-145,078,636	ATP6V1H, RN7SL474P, 2109 more genes
nsv3901821	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 10,213-146,293,414 , GRCh38.p12 chr8: 60,213-145,068,028	ATP6V1H, TBC1D31, 2109 more genes
nsv4349554	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-146,295,771 , GRCh38.p12 chr8: 208,048-145,070,385	ATP6V1H, LOC101929488, 2105 more genes
nsv3916777	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-146,295,771 , GRCh38 chr8: 208,048-145,070,385 , NCBI36 chr8: 148,048-146,266,575	ATP6V1H, RPL5P22, 2105 more genes
nsv3898123	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr8: 158,049-146,295,771 , GRCh38.p12 chr8: 208,049-145,070,385	ATP6V1H, SPAG1, 2105 more genes
nsv3908608	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 164,984-146,293,414 , GRCh38.p12 chr8: 214,984-145,068,028	ATP6V1H, LINC01617, 2105 more genes
nsv3893757	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,991-146,280,828 , GRCh38.p12 chr8: 208,991-145,055,442	ATP6V1H, LOC105375890, 2105 more genes
nsv3923310	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 166,452-146,264,902 , GRCh38 chr8: 226,452-145,068,712 , GRCh37 chr8: 176,452-146,294,098	ATP6V1H, LOC112268023, 2105 more genes
nsv3914307	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 191,605-146,280,167 , GRCh38 chr8: 241,605-145,054,781 , NCBI36 chr8: 181,605-146,250,971	ATP6V1H, LOC107986897, 2104 more genes
nsv3919282	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 191,530-146,280,020 , GRCh38 chr8: 241,530-145,054,634 , NCBI36 chr8: 181,530-146,250,824	ATP6V1H, MIR4662B, 2104 more genes
nsv3919200	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 241,530-145,049,449 , GRCh37 chr8: 191,530-146,274,835 , NCBI36 chr8: 181,530-146,245,639	ATP6V1H, LOC112268023, 2103 more genes
nsv3906425	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 12,490,999-146,295,771 , GRCh38.p12 chr8: 12,633,490-145,070,385	ATP6V1H, LOC112268016, 1819 more genes
nsv3915762	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 21,193,313-146,266,575 , GRCh38 chr8: 21,291,522-145,070,385 , GRCh37 chr8: 21,149,033-146,295,771	ATP6V1H, LOC105375693, 1718 more genes

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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 30

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Number of Variants: 20

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Supplemental Content

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Search details

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