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Items: 1 to 20 of 463

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5892831copy number variation1nstd209human GRCh38 chr2: 168,975,340-168,975,635 , GRCh37.p13 chr2: 169,831,850-169,832,145 ABCB11
    nsv5673374copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 169,842,610-169,853,242 , GRCh38.p12 chr2: 168,986,100-168,996,732 ABCB11
    nsv5673373copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 169,814,464-169,814,648 , GRCh38.p12 chr2: 168,957,954-168,958,138 ABCB11
    nsv5673295copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 169,842,610-169,852,002 , GRCh38.p12 chr2: 168,986,100-168,995,492 ABCB11
    nsv5673211copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 169,783,666-169,783,872 , GRCh38.p12 chr2: 168,927,156-168,927,362 , GRCh38.p12 chr2|NW_003315909.1: 113,783-113,989 ABCB11
    nsv5622716insertion1nstd207human GRCh38 chr2: 168,975,544-168,975,544 , GRCh37.p13 chr2: 169,832,054-169,832,054 ABCB11
    nsv5622439insertion1nstd207human GRCh38 chr2: 168,975,303-168,975,303 , GRCh37.p13 chr2: 169,831,813-169,831,813 ABCB11
    nsv5619110insertion1nstd207human GRCh38 chr2: 168,975,305-168,975,305 , GRCh37.p13 chr2: 169,831,815-169,831,815 ABCB11
    nsv5614806insertion1nstd207human GRCh38 chr2: 168,975,476-168,975,476 , GRCh37.p13 chr2: 169,831,986-169,831,986 ABCB11
    nsv5610946insertion1nstd207human GRCh38 chr2: 168,975,362-168,975,362 , GRCh37.p13 chr2: 169,831,872-169,831,872 ABCB11
    nsv5610105insertion1nstd207human GRCh38 chr2: 168,975,437-168,975,437 , GRCh37.p13 chr2: 169,831,947-169,831,947 ABCB11
    nsv5574315copy number variation1nstd207human GRCh38 chr2: 169,029,711-169,030,037 , GRCh37.p13 chr2: 169,886,221-169,886,547 ABCB11
    nsv5574002copy number variation1nstd207human GRCh38 chr2: 168,946,157-168,946,254 , GRCh37.p13 chr2: 169,802,667-169,802,764 ABCB11
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5536290insertion1nstd206human GRCh38 chr2: 168,934,516-168,934,550 , GRCh37.p13 chr2: 169,791,026-169,791,060 ABCB11
    nsv5452863copy number variation1nstd206human GRCh38 chr2: 168,946,152-168,946,260 , GRCh37.p13 chr2: 169,802,662-169,802,770 ABCB11
    nsv5447726copy number variation1nstd206human GRCh38 chr2: 169,029,726-169,030,038 , GRCh37.p13 chr2: 169,886,236-169,886,548 ABCB11
    nsv5384565mobile element deletion2nstd186human GRCh37 chr2: 169,886,236-169,886,548 , GRCh38.p12 chr2: 169,029,726-169,030,038 ABCB11
    nsv5350983translocation1nstd200human GRCh38 chr2: 168,946,260-168,946,260 , GRCh38 chr2: 168,946,152-168,946,152 , GRCh37.p13 chr2: 169,802,662-169,802,662 , GRCh37.p13 chr2: 169,802,770-169,802,770 ABCB11
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