uba1[All Fields] AND 1[has_clinical] - dbVar

loading data ...

Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7098560	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chrX: 47,058,202-47,074,328 , GRCh38.p12 chrX: 47,198,803-47,214,929	UBA1, INE1, 1 more genes
nsv3904162	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 10,001-156,030,895 , GRCh37 chrX: 60,001-155,260,560 , NCBI36 chrX: 1-154,913,754	UBA1, NANOGNBP3, 2154 more genes
nsv3913255	copy number variation	2	nstd102	human	Pathogenic	NCBI36 chrX: 701-154,913,754 , GRCh37.p13 chrX: 60,701-155,260,560 , GRCh38.p12 chrX: 10,701-156,030,895	UBA1, NHS-AS1, 2154 more genes
nsv3907094	copy number variation	4	nstd102	human	Pathogenic	GRCh38 chrX: 10,679-156,022,206 , GRCh37 chrX: 60,679-155,251,871 , NCBI36 chrX: 679-154,905,065	UBA1, GPR119, 2153 more genes
nsv3878553	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chrX: 60,262-155,245,765 , GRCh38.p12 chrX: 10,262-156,016,100	UBA1, H2AB2, 2152 more genes
nsv3898149	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 20,297-156,026,127 , NCBI36 chrX: 10,297-154,908,986 , GRCh37 chrX: 70,297-155,255,792	UBA1, OR3B1P, 2154 more genes
nsv3877395	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 71,267-155,255,839 , GRCh38.p12 chrX: 21,267-156,026,174	UBA1, ARMCX2, 2154 more genes
nsv3884935	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 71,267-155,255,792 , GRCh38.p12 chrX: 21,267-156,026,127	UBA1, NDUFB11, 2154 more genes
nsv3903061	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chrX: 679-154,896,026 , GRCh38 chrX: 10,679-156,013,167 , GRCh37 chrX: 60,679-155,242,832	UBA1, SLC38A5, 2152 more genes
nsv3885865	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 70,297-155,246,585 , GRCh38.p12 chrX: 20,297-156,016,920	UBA1, MIR1277, 2152 more genes
nsv6112690	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301	UBA1, LOC105373176, 2151 more genes
nsv3907545	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 64,245-155,228,958 , NCBI36 chrX: 4,245-154,882,152 , GRCh38 chrX: 14,245-155,999,293	UBA1, TMEM30BP1, 2151 more genes
nsv3884029	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 71,267-155,224,766 , GRCh38.p12 chrX: 21,267-155,995,101	UBA1, SSX4B, 2150 more genes
nsv3898185	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chrX: 76,102-155,226,096 , NCBI36 chrX: 16,102-154,879,290 , GRCh38 chrX: 26,102-155,996,431	UBA1, ANKRD11P2, 2151 more genes
nsv3891981	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 10,701-155,978,689 , NCBI36 chrX: 701-154,861,548 , GRCh37 chrX: 60,701-155,208,354	UBA1, PAICSP7, 2149 more genes
nsv3892026	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 40,904-155,998,166 , GRCh37 chrX: 90,904-155,227,831 , NCBI36 chrX: 30,904-154,881,025	UBA1, MIR934, 2151 more genes
nsv3903163	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chrX: 168,546-155,233,731 , GRCh38 chrX: 251,879-156,004,066 , NCBI36 chrX: 108,546-154,886,925	UBA1, RPL36A, 2151 more genes
nsv3887722	copy number variation	4	nstd102	human	Pathogenic	GRCh37 chrX: 168,546-155,233,731 , GRCh38.p12 chrX: 251,879-156,004,066	UBA1, CT45A3, 2151 more genes
nsv3901047	copy number variation	3	nstd102	human	Pathogenic, conflicting data from submitters	GRCh38 chrX: 251,880-156,004,066 , GRCh37 chrX: 168,547-155,233,731 , NCBI36 chrX: 108,547-154,886,925	UBA1, GPR119, 2151 more genes
nsv3890023	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chrX: 70,140-154,929,279 , NCBI36 chrX: 10,140-154,582,473 , GRCh38 chrX: 20,140-155,699,618	UBA1, MIRLET7F2, 2145 more genes

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

Send to:

Search results

Items: 1 to 20 of 148

Number of Variants: 20

Send to:

Supplemental Content

Find related data

Search details

Recent activity

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 148

Page of 8

Number of Variants: 20

Page of 8

Supplemental Content

Find related data

Search details

Recent activity