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Items: 1 to 20 of 618

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098994copy number variation1nstd102humanLikely pathogenic GRCh37 chr5: 37,108,574-37,198,803 , GRCh38.p12 chr5: 37,108,472-37,198,701 CPLANE1, RBISP2
    nsv7098840copy number variation1nstd102humanPathogenic GRCh37 chr5: 36,756,763-37,112,145 , GRCh38.p12 chr5: 36,756,661-37,112,043 NIPBL, CPLANE1, 3 more genes
    nsv7097534copy number variation1nstd102humanPathogenic GRCh37 chr5: 37,201,673-37,231,171 , GRCh38.p12 chr5: 37,201,571-37,231,069 OFD1P17, CPLANE1
    nsv7097533copy number variation1nstd102humanUncertain significance GRCh37 chr5: 37,125,326-37,198,988 , GRCh38.p12 chr5: 37,125,224-37,198,886 RBISP2, CPLANE1
    nsv7097278copy number variation1nstd102humanUncertain significance GRCh37 chr5: 37,244,457-37,371,079 , GRCh38.p12 chr5: 37,244,355-37,370,977 CPLANE1, RNU7-75P, 3 more genes
    nsv7097277copy number variation1nstd102humanUncertain significance GRCh37 chr5: 37,224,614-37,371,079 , GRCh38.p12 chr5: 37,224,512-37,370,977 NUP155, RNU7-75P, 3 more genes
    nsv7097276copy number variation1nstd102humanPathogenic GRCh37 chr5: 37,187,496-37,187,964 , GRCh38.p12 chr5: 37,187,394-37,187,862 CPLANE1
    nsv7097275copy number variation1nstd102humanUncertain significance GRCh37 chr5: 37,184,870-37,371,079 , GRCh38.p12 chr5: 37,184,768-37,370,977 OFD1P17, CPLANE1, 4 more genes
    nsv7097143copy number variation1nstd102humanPathogenic GRCh37 chr5: 36,953,718-37,371,079 , GRCh38.p12 chr5: 36,953,616-37,370,977 NUP155, OFD1P17, 7 more genes
    nsv7097142copy number variation1nstd102humanUncertain significance GRCh37 chr5: 36,953,718-37,324,229 , GRCh38.p12 chr5: 36,953,616-37,324,127 NIPBL, OFD1P17, 6 more genes
    nsv7097139copy number variation1nstd102humanUncertain significance GRCh37 chr5: 33,944,753-39,364,566 , GRCh38.p12 chr5: 33,944,648-39,364,464 RNU7-75P, UGT3A1, 77 more genes
    nsv7096773copy number variation1nstd102humanUncertain significance GRCh37 chr5: 37,138,802-37,371,079 , GRCh38.p12 chr5: 37,138,700-37,370,977 CPLANE1-AS1, NUP155, 4 more genes
    nsv7057075inversion1nstd229human GRCh38 chr5: 37,097,860-37,103,601 , GRCh37.p13 chr5: 37,097,962-37,103,703 CPLANE1
    nsv7055845inversion1nstd229human GRCh38 chr5: 37,088,993-37,089,243 , GRCh37.p13 chr5: 37,089,095-37,089,345 CPLANE1
    nsv7054306inversion1nstd229human GRCh38 chr5: 37,089,015-37,090,786 , GRCh37.p13 chr5: 37,089,117-37,090,888 CPLANE1
    nsv7051344inversion1nstd229human GRCh38 chr5: 36,271,641-38,407,431 , GRCh37.p13 chr5: 36,271,743-38,407,533 OFD1P17, NIPBL-DT, 29 more genes
    nsv7051091inversion1nstd229human GRCh38 chr5: 37,090,904-37,370,586 , GRCh37.p13 chr5: 37,091,006-37,370,688 CPLANE1, OFD1P17, 5 more genes
    nsv7050297inversion1nstd229human GRCh38 chr5: 36,828,847-37,157,005 , GRCh37.p13 chr5: 36,828,949-37,157,107 CPLANE1, NIPBL, 4 more genes
    nsv7046165inversion1nstd229human GRCh38 chr5: 36,256,892-38,407,123 , GRCh37.p13 chr5: 36,256,994-38,407,225 NIPBL-DT, LINC02117, 29 more genes
    nsv7044509inversion1nstd229human GRCh38 chr5: 36,271,640-38,419,066 , GRCh37.p13 chr5: 36,271,742-38,419,168 WDR70, LINC02119, 29 more genes
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