efhd1[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
nsv4451079	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 233,490,958-233,556,080 , GRCh38.p12 chr2: 232,626,248-232,691,370	EFHD1, RN7SL359P
nsv3910630	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331	EFHD1, DAZAP2P1, 2991 more genes
nsv6313668	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062	EFHD1, LOC105373947, 357 more genes
nsv3898929	copy number variation	2	nstd102	human	Pathogenic	GRCh38 chr2: 231,770,279-242,126,245 , GRCh37 chr2: 232,634,989-243,059,659 , NCBI36 chr2: 232,343,233-242,717,069	EFHD1, PDE6D, 227 more genes
nsv3893827	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 227,551,089-237,459,981 , GRCh38 chr2: 226,978,129-236,886,599 , GRCh37 chr2: 227,842,845-237,795,242	EFHD1, B3GNT7, 193 more genes
nsv4768328	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 233,110,452-243,028,452 , GRCh38.p12 chr2: 232,245,742-242,086,301	EFHD1, LOC107985836, 217 more genes
nsv6315436	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 233,227,837-242,783,384 , GRCh38.p12 chr2: 232,363,127-241,841,232	EFHD1, LOC105373929, 204 more genes
nsv3906029	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 227,916,238-235,912,551 , GRCh38 chr2: 227,343,278-235,339,168 , GRCh37 chr2: 228,207,994-236,247,812	EFHD1, SP110, 167 more genes
nsv6313683	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 228,807,574-235,475,892 , GRCh38.p12 chr2: 227,942,858-234,567,248	EFHD1, RNU7-9P, 143 more genes
nsv3902527	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 232,756,751-233,517,015 , NCBI36 chr2: 232,464,995-233,225,259 , GRCh38 chr2: 231,892,041-232,652,305	EFHD1, CHRND, 20 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	EFHD1, LOC112268439, 3737 more genes
nsv3874648	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305	EFHD1, IGKV2OR2-10, 3737 more genes
nsv3885544	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609	EFHD1, RNU6-674P, 3735 more genes
nsv3882615	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232	EFHD1, MTND2P22, 3724 more genes
nsv4728725	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306	EFHD1, LOC105376755, 1013 more genes
nsv3890898	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 188,818,195-242,065,208 , NCBI36 chr2: 189,391,166-242,656,032 , GRCh37 chr2: 189,682,921-243,007,359	EFHD1, LOC105373909, 901 more genes
nsv3896499	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 190,300,875-242,783,384 , NCBI36 chr2: 190,009,120-242,432,057 , GRCh38 chr2: 189,436,149-241,841,232	EFHD1, RNU6-1206P, 883 more genes
nsv3908112	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 190,310,736-241,892,770 , NCBI36 chr2: 190,883,707-242,483,594 , GRCh37 chr2: 191,175,462-242,834,921	EFHD1, LOC101928084, 871 more genes
nsv3892046	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 195,763,507-237,382,556 , NCBI36 chr2: 195,471,752-237,047,295 , GRCh38 chr2: 194,898,783-236,473,913	EFHD1, NPM1P46, 706 more genes
nsv3892823	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 211,444,400-243,059,659 , GRCh38 chr2: 210,579,676-242,126,245 , NCBI36 chr2: 211,152,645-242,717,069	EFHD1, RPL19P5, 567 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 38

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 38

Page of 2

Number of Variants: 20

Page of 2

Supplemental Content

Find related data

Search details

Recent activity