eef1b2[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
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	EEF1B2, DAZAP2P1, 2991 more genes
nsv6315398	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349	EEF1B2, LOC107985785, 381 more genes
nsv3896612	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 192,938,826-215,705,052 , NCBI36 chr2: 193,511,797-216,278,020 , GRCh37 chr2: 193,803,552-216,569,775	EEF1B2, MTND4P30, 320 more genes
nsv6637127	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658	EEF1B2, LOC100421409, 310 more genes
nsv3903696	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 200,510,241-210,604,893 , GRCh37 chr2: 200,801,996-210,896,648 , GRCh38 chr2: 199,937,273-210,031,924	EEF1B2, MTND4P23, 206 more genes
nsv3895332	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 200,811,217-210,849,919 , GRCh38 chr2: 199,946,494-209,985,195 , NCBI36 chr2: 200,519,462-210,558,164	EEF1B2, CCNYL1, 203 more genes
nsv6313730	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 200,851,079-209,054,267 , GRCh38.p12 chr2: 199,986,356-208,189,543	EEF1B2, RN7SKP200, 179 more genes
nsv4728545	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 204,445,619-212,580,788 , GRCh38.p12 chr2: 203,580,896-211,716,063	EEF1B2, FASTKD2, 110 more genes
nsv3892523	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 205,771,566-210,896,173 , NCBI36 chr2: 205,479,811-210,604,418 , GRCh38 chr2: 204,906,843-210,031,449	EEF1B2, SNORD51, 84 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	EEF1B2, 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	EEF1B2, 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	EEF1B2, 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	EEF1B2, 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	EEF1B2, 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	EEF1B2, 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	EEF1B2, 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	EEF1B2, LOC101928084, 871 more genes
nsv4674383	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464	EEF1B2, SNORA41, 663 more genes
nsv3876037	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 169,829,974-215,521,436 , GRCh38.p12 chr2: 168,973,464-214,656,712	EEF1B2, LINC01953, 632 more genes
nsv3902143	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 180,513,793-224,302,848 , NCBI36 chr2: 181,086,765-224,875,809 , GRCh37 chr2: 181,378,520-225,167,565	EEF1B2, LINC00607, 644 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 30

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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