atp13a4[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
nsv3873450	copy number variation	1	nstd102	human	Benign	GRCh37 chr3: 193,136,476-193,152,594 , GRCh38.p12 chr3: 193,418,687-193,434,805	ATP13A4
nsv3880375	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 193,120,725-193,212,766 , GRCh38.p12 chr3: 193,402,936-193,494,977	ATP13A4
nsv6311975	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 193,311,167-193,311,218 , GRCh38.p12 chr3: 193,593,378-193,593,429	ATP13A4, OPA1
nsv3882935	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr3: 193,204,359-193,353,796 , GRCh38.p12 chr3: 193,486,570-193,636,007	ATP13A4, EEF1A1P23, 3 more genes
nsv4728637	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 193,212,765-193,346,333 , GRCh38.p12 chr3: 193,494,976-193,628,544	ATP13A4, ATP13A4-AS1, 3 more genes
nsv3915488	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 185,203,637-197,837,049 , NCBI36 chr3: 186,686,331-199,321,446 , GRCh38 chr3: 185,485,849-198,110,178	ATP13A4, SNAR-I, 260 more genes
nsv3920607	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 187,082,628-197,946,692 , GRCh37.p13 chr3: 185,599,934-196,462,295 , GRCh38.p12 chr3: 185,882,146-196,735,424	ATP13A4, FGF12, 212 more genes
nsv3872972	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 189,101,446-197,838,262 , GRCh38.p12 chr3: 189,383,657-198,111,391	ATP13A4, TMEM44, 187 more genes
nsv6290259	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 189,608,636-197,532,175 , GRCh38.p12 chr3: 189,890,847-197,805,304	ATP13A4, LINC01972, 174 more genes
nsv3918718	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 186,482,937-194,130,145 , NCBI36 chr3: 187,965,631-195,611,434 , GRCh38 chr3: 186,765,148-194,409,416	ATP13A4, TPRG1-AS1, 114 more genes
nsv3920718	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 188,646,713-196,231,151 , GRCh37 chr3: 187,164,019-194,749,862 , GRCh38 chr3: 187,446,231-195,029,133	ATP13A4, LOC105374283, 105 more genes
nsv6290248	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 191,866,466-197,842,171 , GRCh38.p12 chr3: 192,148,677-198,115,300	ATP13A4, PIGZ, 156 more genes
nsv3885606	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156	ATP13A4, RNU4-62P, 2880 more genes
nsv3889228	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115	ATP13A4, NDUFB4, 2876 more genes
nsv3880617	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391	ATP13A4, RPL23AP49, 2875 more genes
nsv3918981	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 103,145,726-197,837,049 , GRCh38 chr3: 103,426,882-198,110,178 , NCBI36 chr3: 104,628,416-199,321,446	ATP13A4, LINC02614, 1469 more genes
nsv3918692	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 147,521,892-198,096,565 , GRCh37 chr3: 147,239,679-197,823,436 , NCBI36 chr3: 148,722,369-199,307,833	ATP13A4, LOC105374179, 785 more genes
nsv3918066	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 152,100,512-198,118,383 , NCBI36 chr3: 153,300,991-199,329,651 , GRCh37 chr3: 151,818,301-197,845,254	ATP13A4, LOC105374260, 696 more genes
nsv3918149	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 155,836,230-197,851,986 , GRCh38 chr3: 156,118,441-198,125,115 , NCBI36 chr3: 157,318,924-199,336,383	ATP13A4, LINC02031, 647 more genes
nsv3913128	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 156,321,878-198,113,452 , NCBI36 chr3: 157,522,361-199,324,720 , GRCh37 chr3: 156,039,667-197,840,323	ATP13A4, SNORA4, 644 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 44

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Number of Variants: 20

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