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Items: 1 to 20 of 221

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147863insertion1nstd232human GRCh37.p13 chr2: 171,813,073-171,813,073 , GRCh38.p12 chr2: 170,956,563-170,956,563 GORASP2
    nsv7145014insertion1nstd232human GRCh37.p13 chr2: 171,806,800-171,806,800 , GRCh38.p12 chr2: 170,950,290-170,950,290 GORASP2
    nsv7144452insertion1nstd232human GRCh37.p13 chr2: 171,811,295-171,811,295 , GRCh38.p12 chr2: 170,954,785-170,954,785 GORASP2
    nsv7096586copy number variation1nstd102humanUncertain significance GRCh37 chr2: 171,675,102-174,232,392 , GRCh38.p12 chr2: 170,818,592-173,367,664 RNU6-182P, DCAF17, 36 more genes
    nsv6694189copy number variation1nstd229human GRCh38 chr2: 170,935,905-171,157,614 , GRCh37.p13 chr2: 171,792,415-172,014,124 GORASP2, TLK1
    nsv6693701copy number variation1nstd229human GRCh38 chr2: 170,962,948-170,965,787 , GRCh37.p13 chr2: 171,819,458-171,822,297 GORASP2
    nsv6691563copy number variation1nstd229human GRCh38 chr2: 170,962,311-170,967,740 , GRCh37.p13 chr2: 171,818,821-171,824,250 GORASP2
    nsv6686519copy number variation1nstd229human GRCh38 chr2: 170,934,001-170,937,700 , GRCh37.p13 chr2: 171,790,511-171,794,210 GORASP2
    nsv6539890inversion1nstd223human GRCh38 chr2: 170,963,168-170,963,667 , GRCh37.p13 chr2: 171,819,678-171,820,177 GORASP2
    nsv6354076copy number variation1nstd223human GRCh38 chr2: 170,964,433-170,989,755 , GRCh37.p13 chr2: 171,820,943-171,846,265 GORASP2, TLK1
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315160copy number variation1nstd102humanPathogenic GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123 EIF3EP3, FAP, 158 more genes
    nsv6315016copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,524,396-178,694,337 , GRCh38.p12 chr2: 170,667,886-177,829,610 LOC105373746, HAGLROS, 136 more genes
    nsv6300480copy number variation1nstd186human GRCh37 chr2: 171,820,974-171,846,126 , GRCh38.p12 chr2: 170,964,464-170,989,616 TLK1, GORASP2
    nsv6296836copy number variation1nstd186human GRCh37 chr2: 171,776,239-171,788,700 , GRCh38.p12 chr2: 170,919,729-170,932,190 GORASP2
    nsv6243455mobile element insertion1nstd215human GRCh38 chr2: 170,947,231-170,947,231 , GRCh37.p13 chr2: 171,803,741-171,803,741 GORASP2
    nsv6134500copy number variation1nstd213human GRCh37 chr2: 149,790,000-179,310,001 , GRCh38.p12 chr2: 148,934,069-178,445,274 , ACVR1, 394 more genes
    nsv6134160copy number variation1nstd213human GRCh37 chr2: 171,190,000-172,290,001 , GRCh38.p12 chr2: 170,333,490-171,433,491 GAD1, TLK1, 15 more genes
    nsv6050290insertion1nstd212human GRCh38 chr2: 170,951,530-170,951,530 , GRCh37.p13 chr2: 171,808,040-171,808,040 GORASP2
    nsv5905534copy number variation1nstd209human GRCh38 chr2: 170,933,987-170,937,706 , GRCh37.p13 chr2: 171,790,497-171,794,216 GORASP2
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