efhc2[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
nsv3907661	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chrX: 44,072,238-44,086,208 , GRCh38 chrX: 44,328,048-44,342,018 , GRCh37 chrX: 44,187,294-44,201,264	EFHC2
nsv6636476	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chrX: 43,615,734-44,011,605 , GRCh38.p12 chrX: 43,756,487-44,152,359	EFHC2, RBM39P1, 3 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, 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	EFHC2, GPR119, 2151 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 149

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Number of Variants: 20

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