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GeneReviews

Pagon RA, Adam MP, Ardinger HH, et al., editors

University of Washington (Seattle WA); 1993-2014.

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Items: 1 to 20 of 229

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv1197580copy number variation1nstd51humanPathogenic GRCh37.p13 chr7: 69,364,485-69,900,737 , GRCh38 chr7: 69,899,499-70,435,751 AUTS2
    nsv1197588copy number variation1nstd51humanPathogenic GRCh37.p13 chr3: 71,041,636-71,229,421 , GRCh38 chr3: 70,992,485-71,180,270 FOXP1
    nsv1197543copy number variation1nstd51humanPathogenic GRCh37 chr5: 178,585,881-178,770,767 , GRCh38.p12 chr5: 179,158,880-179,343,766 , GRCh38.p12 chr5|NW_016107298.1: 1-108,473 ADAMTS2
    nsv1197527copy number variation1nstd51humanPathogenic GRCh38 chr19: 7,112,255-7,249,328 , GRCh37.p13 chr19: 7,112,266-7,249,339 INSR
    nsv1067898copy number variation1nstd51humanPathogenic GRCh38.p12 chr9: 4,406,529-4,490,826 , GRCh37 chr9: 4,406,529-4,490,826 SLC1A1
    nsv1197554copy number variation1nstd51humanPathogenic GRCh38.p12 chr16: 78,099,430-78,164,289 , GRCh37 chr16: 78,133,327-78,198,186 WWOX
    nsv1067860copy number variation1nstd51humanPathogenic GRCh38.p12 chr8: 52,623,768-52,685,459 , GRCh37 chr8: 53,536,328-53,598,019 RB1CC1
    nsv1197509copy number variation1nstd51humanPathogenic GRCh37.p13 chr5: 44,304,328-44,357,425 , GRCh38 chr5: 44,304,226-44,357,323 FGF10
    nsv1197571copy number variation1nstd51humanPathogenic GRCh38.p12 chr21: 37,502,327-37,554,828 , GRCh37 chr21: 38,874,630-38,927,130 DYRK1A
    nsv1067838copy number variation1nstd51humanPathogenic GRCh37 chrX: 44,866,302-44,912,718 , GRCh38.p12 chrX: 45,007,057-45,053,473 KDM6A
    nsv1197597copy number variation1nstd51humanPathogenic GRCh38 chr16: 89,751,224-89,795,381 , GRCh37.p13 chr16: 89,817,632-89,861,789 FANCA
    nsv1067861copy number variation1nstd51humanPathogenic GRCh38.p12 chr8: 52,624,761-52,661,660 , GRCh37 chr8: 53,537,321-53,574,220 RB1CC1
    nsv1197511copy number variation1nstd51humanPathogenic GRCh38 chr19: 13,335,910-13,371,687 , GRCh37.p13 chr19: 13,446,724-13,482,501 CACNA1A
    nsv1197546copy number variation1nstd51humanPathogenic GRCh37 chr7: 16,401,191-16,431,594 , GRCh38.p12 chr7: 16,361,566-16,391,969 CRPPA
    nsv1197521copy number variation1nstd51humanPathogenic GRCh37.p13 chrX: 30,719,023-30,746,860 , GRCh38 chrX: 30,700,906-30,728,743 GK
    nsv1197576copy number variation1nstd51humanPathogenic GRCh38.p12 chr16: 74,712,955-74,740,022 , GRCh37 chr16: 74,746,853-74,773,920 FA2H
    nsv1197518copy number variation1nstd51humanPathogenic GRCh37.p13 chrX: 148,560,295-148,586,884 , GRCh38 chrX: 149,478,764-149,505,354 , GRCh37.p13 chrX|NW_004070890.2: 5,003,162-5,029,752 IDS
    nsv513788copy number variation1nstd51humanPathogenic GRCh38.p12 chr1: 7,958,785-7,984,894 , GRCh37 chr1: 8,018,845-8,044,954 PARK7
    nsv1197593copy number variation1nstd51humanPathogenic GRCh37.p13 chrX: 39,910,499-39,934,433 , GRCh38 chrX: 40,051,246-40,075,180 BCOR
    nsv513768copy number variation1nstd51humanPathogenic GRCh37 chr7: 117,138,363-117,159,446 , GRCh38.p12 chr7: 117,498,309-117,519,392 CFTR
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