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Items: 1 to 20 of 167

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137076copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 149,220,152-149,633,312 , GRCh38.p12 chr2: 148,462,583-148,875,743 KIF5C, UBBP3, 8 more genes
    nsv7044798inversion1nstd229human GRCh38 chr2: 148,602,726-149,090,765 , GRCh37.p13 chr2: 149,360,295-149,947,279 RNU2-9P, KIF5C-AS1, 9 more genes
    nsv7041072inversion1nstd229human GRCh38 chr2: 148,602,723-149,086,594 , GRCh37.p13 chr2: 149,360,292-149,943,108 KIF5C, LOC101928526, 9 more genes
    nsv6697799copy number variation1nstd229human GRCh38 chr2: 148,871,795-148,874,824 , GRCh37.p13 chr2: 149,629,364-149,632,393 KIF5C-AS1, USP8P2, 1 more genes
    nsv6697713copy number variation1nstd229human GRCh38 chr2: 148,881,719-148,881,852 , GRCh37.p13 chr2: 149,639,288-149,639,421 KIF5C-AS1, KIF5C
    nsv6680400copy number variation1nstd229human GRCh38 chr2: 148,881,894-148,882,032 , GRCh37.p13 chr2: 149,639,463-149,639,601 KIF5C, KIF5C-AS1
    nsv6541714inversion1nstd223human GRCh38 chr2: 148,865,353-155,671,569 , GRCh37.p13 chr2: 149,622,922-156,528,081 , LOC107985952, 79 more genes
    nsv6350919copy number variation1nstd223human GRCh38 chr2: 146,838,349-149,599,030 , GRCh37.p13 chr2: 147,595,917-150,455,544 , TXNP5, 33 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6313615copy number variation1nstd102humanUncertain significance GRCh37 chr2: 149,123,669-149,665,709 , GRCh38.p12 chr2: 148,366,100-148,908,140 LOC101928526, KIF5C, 9 more genes
    nsv6313565copy number variation1nstd102humanUncertain significance GRCh37 chr2: 148,954,840-150,800,195 , GRCh38.p12 chr2: 148,197,271-149,943,681 USP8P2, TXNP5, 24 more genes
    nsv6313481copy number variation1nstd102humanPathogenic GRCh37 chr2: 143,258,712-152,867,819 , GRCh38.p12 chr2: 142,501,143-152,011,305 STIP1P1, RNU6-715P, 98 more genes
    nsv6290982copy number variation1nstd102humanPathogenic GRCh37 chr2: 142,409,401-152,680,804 , GRCh38.p12 chr2: 141,651,832-151,824,290 LOC101928526, MTCO2P5, 101 more genes
    nsv6243227mobile element insertion1nstd215human GRCh38 chr2: 148,880,923-148,880,923 , GRCh37.p13 chr2: 149,638,492-149,638,492 KIF5C, KIF5C-AS1
    nsv6157765copy number variation1nstd214human GRCh38 chr2: 148,881,740-148,881,851 , GRCh37.p13 chr2: 149,639,309-149,639,420 KIF5C-AS1, KIF5C
    nsv6134498copy number variation1nstd213human GRCh37 chr2: 145,530,000-149,690,001 , GRCh38.p12 chr2: 144,772,433-148,932,432 , ACVR2A, 38 more genes
    nsv5899442copy number variation1nstd209human GRCh38 chr2: 148,881,719-148,881,849 , GRCh37.p13 chr2: 149,639,288-149,639,418 KIF5C, KIF5C-AS1
    nsv5569122copy number variation1nstd207human GRCh38 chr2: 148,881,718-148,881,849 , GRCh37.p13 chr2: 149,639,287-149,639,418 KIF5C, KIF5C-AS1
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5453898copy number variation1nstd206human GRCh38 chr2: 148,881,719-148,881,852 , GRCh37.p13 chr2: 149,639,288-149,639,421 KIF5C, KIF5C-AS1
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