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Items: 1 to 20 of 281

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7138563copy number variation1nstd232human GRCh37.p13 chr17: 78,094,107-78,094,180 , GRCh38.p12 chr17: 80,120,308-80,120,381 GAA
    nsv7137153insertion1nstd102humanLikely pathogenic GRCh37.p13 chr17: 78,087,985-78,087,985 , GRCh38 chr17: 80,114,186-80,114,186 GAA
    nsv7099003copy number variation1nstd102humanPathogenic GRCh37 chr17: 78,091,549-78,092,451 , GRCh38.p12 chr17: 80,117,750-80,118,652 GAA
    nsv7095420copy number variation1nstd102humanPathogenic GRCh37 chr17: 78,084,516-78,084,834 , GRCh38.p12 chr17: 80,110,717-80,111,035 GAA
    nsv7095419copy number variation1nstd102humanUncertain significance GRCh37 chr17: 78,071,024-78,073,574 , GRCh38.p12 chr17: 80,097,225-80,099,775 GAA, MIR1268B, 1 more genes
    nsv7094924copy number variation1nstd102humanUncertain significance GRCh37 chr17: 78,090,747-78,110,154 , GRCh38.p12 chr17: 80,116,948-80,136,355 EIF4A3, GAA
    nsv7094923copy number variation1nstd102humanPathogenic GRCh37 chr17: 78,085,283-78,092,476 , GRCh38.p12 chr17: 80,111,484-80,118,677 GAA
    nsv7094921copy number variation1nstd102humanUncertain significance GRCh37 chr17: 76,851,749-78,367,298 , GRCh38.p12 chr17: 78,855,667-80,393,498 RNF213-AS1, EIF4A3, 25 more genes
    nsv7072983inversion1nstd229human GRCh38 chr17: 79,606,852-81,315,890 , GRCh37.p13 chr17: 77,766,017-79,289,690 MIR4739, MIR4730, 44 more genes
    nsv7071296inversion1nstd229human GRCh38 chr17: 79,045,634-82,531,412 , GRCh37.p13 chr17: 77,041,716-80,489,288 , ENPP7, 111 more genes
    nsv7069017inversion1nstd229human GRCh38 chr17: 80,104,000-80,130,928 , GRCh37.p13 chr17: 78,077,799-78,104,727 GAA
    nsv7067212inversion1nstd229human GRCh38 chr17: 79,320,851-81,127,081 , GRCh37.p13 chr17: 77,316,933-79,100,881 RPL32P31, RPTOR, 35 more genes
    nsv7065384inversion1nstd229human GRCh38 chr17: 79,173,003-81,030,493 , GRCh37.p13 chr17: 77,169,085-79,004,293 GAA, ENPP7, 30 more genes
    nsv7061803inversion1nstd229human GRCh38 chr17: 79,169,515-81,031,248 , GRCh37.p13 chr17: 77,165,597-79,005,048 CBX4, SLC26A11, 30 more genes
    nsv6996549copy number variation1nstd229human GRCh38 chr17: 80,114,173-80,114,391 , GRCh37.p13 chr17: 78,087,972-78,088,190 GAA
    nsv6996373copy number variation1nstd229human GRCh38 chr17: 79,887,682-80,319,110 , GRCh37.p13 chr17: 77,861,481-78,292,910 LINC01979, GAA, 9 more genes
    nsv6994777copy number variation1nstd229human GRCh38 chr17: 80,049,040-80,129,247 , GRCh37.p13 chr17: 78,022,839-78,103,046 CCDC40, GAA, 1 more genes
    nsv6994775copy number variation1nstd229human GRCh38 chr17: 79,887,308-80,099,761 , GRCh37.p13 chr17: 77,861,107-78,073,560 TBC1D16, LINC01979, 4 more genes
    nsv6993667copy number variation1nstd229human GRCh38 chr17: 78,709,580-81,173,842 , GRCh37.p13 chr17: 76,705,662-79,147,642 C1QTNF1-AS1, NPTX1, 47 more genes
    nsv6990971copy number variation1nstd229human GRCh38 chr17: 80,096,142-80,101,291 , GRCh37.p13 chr17: 78,069,941-78,075,090 GAA, MIR1268B, 1 more genes
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