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Items: 1 to 20 of 413

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7093540insertion1nstd102humanPathogenic GRCh37 chr2: 202,137,365-202,137,365 , GRCh38 chr2: 201,272,642-201,272,642 CASP8
    nsv7049459inversion1nstd229human GRCh38 chr2: 199,624,566-202,238,851 , GRCh37.p13 chr2: 200,489,289-203,103,574 LOC105373833, NDUFB3, 76 more genes
    nsv6697182copy number variation1nstd229human GRCh38 chr2: 192,562,889-202,434,958 , GRCh37.p13 chr2: 193,427,615-203,299,681 RNU6-915P, SLC44A3P1, 150 more genes
    nsv6695662copy number variation1nstd229human GRCh38 chr2: 201,281,935-201,284,717 , GRCh37.p13 chr2: 202,146,658-202,149,440 CASP8
    nsv6691459copy number variation1nstd229human GRCh38 chr2: 201,232,019-201,287,476 , GRCh37.p13 chr2: 202,096,742-202,152,199 FLACC1, CASP8
    nsv6690493copy number variation1nstd229human GRCh38 chr2: 201,259,135-201,290,143 , GRCh37.p13 chr2: 202,123,858-202,154,866 FLACC1, CASP8
    nsv6690255copy number variation1nstd229human GRCh38 chr2: 201,258,149-201,258,266 , GRCh37.p13 chr2: 202,122,872-202,122,989 CASP8
    nsv6688478copy number variation1nstd229human GRCh38 chr2: 201,251,865-201,257,121 , GRCh37.p13 chr2: 202,116,588-202,121,844 CASP8
    nsv6687751copy number variation1nstd229human GRCh38 chr2: 201,248,276-201,255,836 , GRCh37.p13 chr2: 202,112,999-202,120,559 CASP8
    nsv6683936copy number variation1nstd229human GRCh38 chr2: 201,211,425-201,312,149 , GRCh37.p13 chr2: 202,076,148-202,176,872 CASP10, MTND4P23, 4 more genes
    nsv6681472copy number variation1nstd229human GRCh38 chr2: 201,252,507-201,261,570 , GRCh37.p13 chr2: 202,117,230-202,126,293 CASP8
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6554122inversion1nstd223human GRCh38 chr2: 201,268,085-201,268,492 , GRCh37.p13 chr2: 202,132,808-202,133,215 CASP8
    nsv6351709copy number variation1nstd223human GRCh38 chr2: 201,232,450-201,241,113 , GRCh37.p13 chr2: 202,097,173-202,105,836 CASP8
    nsv6345866copy number variation1nstd223human GRCh38 chr2: 201,252,505-201,261,569 , GRCh37.p13 chr2: 202,117,228-202,126,292 CASP8
    nsv6341637copy number variation1nstd223human GRCh38 chr2: 201,230,360-201,232,968 , GRCh37.p13 chr2: 202,095,083-202,097,691 CASP8
    nsv6339350copy number variation1nstd223human GRCh38 chr2: 201,273,384-201,273,761 , GRCh37.p13 chr2: 202,138,107-202,138,484 CASP8
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
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