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Items: 1 to 20 of 792

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148271copy number variation1nstd102humanPathogenic GRCh38 chr18: 158,286-14,124,574 , GRCh37.p13 chr18: 158,286-14,124,573 PMM2P2, EIF4A2P1, 225 more genes
    nsv7144778copy number variation1nstd232human GRCh37.p13 chr18: 2,718,232-2,718,310 , GRCh38.p12 chr18: 2,718,234-2,718,312 SMCHD1
    nsv7098917copy number variation1nstd102humanPathogenic GRCh37 chr18: 1-15,400,035 , GRCh38.p12 chr18: 10,001-15,400,036 RNU7-25P, RPL6P27, 275 more genes
    nsv7095438copy number variation1nstd102humanLikely pathogenic GRCh37 chr18: 2,738,375-2,802,550 , GRCh38.p12 chr18: 2,738,377-2,802,552 SMCHD1
    nsv7095437copy number variation1nstd102humanPathogenic GRCh37 chr18: 2,656,075-2,960,838 , GRCh38.p12 chr18: 2,656,076-2,960,840 LPIN2, EMILIN2, 2 more genes
    nsv7095436copy number variation1nstd102humanPathogenic GRCh37 chr18: 2,656,075-2,688,765 , GRCh38.p12 chr18: 2,656,076-2,688,767 SMCHD1
    nsv7095376copy number variation1nstd102humanUncertain significance GRCh37 chr18: 2,760,630-2,802,550 , GRCh38.p12 chr18: 2,760,632-2,802,552 SMCHD1
    nsv7095004copy number variation1nstd102humanLikely pathogenic GRCh37 chr18: 2,718,136-2,743,946 , GRCh38.p12 chr18: 2,718,138-2,743,948 SMCHD1
    nsv7094930copy number variation1nstd102humanUncertain significance GRCh37 chr18: 2,656,075-3,457,938 , GRCh38.p12 chr18: 2,656,076-3,457,940 EMILIN2, RNU7-25P, 16 more genes
    nsv7077580inversion1nstd229human GRCh38 chr18: 2,241,965-2,709,179 , GRCh37.p13 chr18: 2,241,965-2,709,177 SMCHD1, NDC80, 6 more genes
    nsv7069073inversion1nstd229human GRCh38 chr18: 1,772,246-2,770,891 , GRCh37.p13 chr18: 1,772,247-2,770,889 AIDAP3, LOC105371957, 11 more genes
    nsv7007975copy number variation1nstd229human GRCh38 chr18: 2,778,210-2,922,012 , GRCh37.p13 chr18: 2,778,208-2,922,010 LPIN2, SMCHD1, 1 more genes
    nsv7007614copy number variation1nstd229human GRCh38 chr18: 2,692,529-2,692,947 , GRCh37.p13 chr18: 2,692,527-2,692,945 SMCHD1
    nsv7006819copy number variation1nstd229human GRCh38 chr18: 2,608,891-2,792,271 , GRCh37.p13 chr18: 2,608,890-2,792,269 NDC80, RNU6-340P, 2 more genes
    nsv7006761copy number variation1nstd229human GRCh38 chr18: 2,770,750-2,770,886 , GRCh37.p13 chr18: 2,770,748-2,770,884 SMCHD1
    nsv7006723copy number variation1nstd229human GRCh38 chr18: 2,729,601-2,749,500 , GRCh37.p13 chr18: 2,729,599-2,749,498 SMCHD1
    nsv7006420copy number variation1nstd229human GRCh38 chr18: 2,756,780-2,757,064 , GRCh37.p13 chr18: 2,756,778-2,757,062 SMCHD1
    nsv7004213copy number variation1nstd229human GRCh38 chr18: 2,655,601-2,733,700 , GRCh37.p13 chr18: 2,655,600-2,733,698 SMCHD1, CBX3P2
    nsv7001546copy number variation1nstd229human GRCh38 chr18: 2,754,536-2,764,255 , GRCh37.p13 chr18: 2,754,534-2,764,253 SMCHD1
    nsv6979047copy number variation1nstd229human GRCh38 chr18: 2,083,787-2,663,484 , GRCh37.p13 chr18: 2,083,788-2,663,483 LOC105371961, KATNBL1P3, 7 more genes
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