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Items: 1 to 20 of 2452

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147884insertion1nstd232human GRCh37.p13 chr12: 2,323,899-2,323,899 , GRCh38.p12 chr12: 2,214,733-2,214,733 , GRCh38.p12 chr12|NW_018654718.1: 556,877-556,877 CACNA1C
    nsv7145004insertion1nstd232human GRCh37.p13 chr12: 2,681,782-2,681,782 , GRCh38.p12 chr12: 2,572,616-2,572,616 , GRCh38.p12 chr12|NW_018654718.1: 920,732-920,732 CACNA1C
    nsv7141182copy number variation1nstd232human GRCh37.p13 chr12: 2,300,995-2,301,050 , GRCh38.p12 chr12: 2,191,829-2,191,884 , GRCh38.p12 chr12|NW_018654718.1: 533,973-534,028 CACNA1C
    nsv7140175copy number variation1nstd232human GRCh37.p13 chr12: 2,516,794-2,516,896 , GRCh38.p12 chr12: 2,407,628-2,407,730 , GRCh38.p12 chr12|NW_018654718.1: 755,744-755,846 CACNA1C
    nsv7098813copy number variation1nstd102humanPathogenic GRCh37 chr12: 176,047-34,179,852 , GRCh38.p12 chr12: 66,881-34,026,917 TDGP1, RPS4XP14, 680 more genes
    nsv7094223copy number variation1nstd102humanUncertain significance GRCh37 chr12: 862,732-2,800,365 , GRCh38.p12 chr12|NW_018654718.1: 1-1,039,315 , GRCh38.p12 chr12: 753,566-2,691,199 DCP1B, CACNA1C-AS2, 28 more genes
    nsv7094211copy number variation1nstd102humanUncertain significance GRCh37 chr12: 2,690,736-2,800,365 , GRCh38.p12 chr12: 2,581,570-2,691,199 , GRCh38.p12 chr12|NW_018654718.1: 929,686-1,039,315 RPS6P18, CACNA1C-AS1, 2 more genes
    nsv7094141copy number variation1nstd102humanUncertain significance GRCh37 chr12: 2,794,882-2,795,455 , GRCh38.p12 chr12: 2,685,716-2,686,289 , GRCh38.p12 chr12|NW_018654718.1: 1,033,832-1,034,405 CACNA1C, CACNA1C-AS1
    nsv7094036copy number variation1nstd102humanUncertain significance GRCh37 chr12: 1,949,885-2,764,424 , GRCh38.p12 chr12|NW_018654718.1: 182,863-1,003,374 , GRCh38.p12 chr12: 1,840,719-2,655,258 CACNA1C-IT3, LAMP1P1, 8 more genes
    nsv7093970copy number variation1nstd102humanUncertain significance GRCh37 chr12: 2,795,312-2,800,365 , GRCh38.p12 chr12|NW_018654718.1: 1,034,262-1,039,315 , GRCh38.p12 chr12: 2,686,146-2,691,199 CACNA1C, CACNA1C-AS1
    nsv7093969copy number variation1nstd102humanUncertain significance GRCh37 chr12: 2,558,122-2,800,365 , GRCh38.p12 chr12: 2,448,956-2,691,199 , GRCh38.p12 chr12|NW_018654718.1: 797,072-1,039,315 CACNA1C, RPS6P18, 2 more genes
    nsv7093964copy number variation1nstd102humanUncertain significance GRCh37 chr12: 2,016,586-2,558,301 , GRCh38.p12 chr12: 1,907,420-2,449,135 , GRCh38.p12 chr12|NW_018654718.1: 249,564-797,251 CACNA2D4, LINC00940, 7 more genes
    nsv7071757inversion1nstd229human GRCh38 chr12: 2,390,179-3,608,024 , GRCh37.p13 chr12: 2,499,345-3,717,190 THCAT155, TSPAN9, 28 more genes
    nsv7070629inversion1nstd229human GRCh38 chr12: 2,639,056-2,639,201 , GRCh37.p13 chr12: 2,748,222-2,748,367 CACNA1C
    nsv7070399inversion1nstd229human GRCh38 chr12: 1,988,476-1,988,560 , GRCh37.p13 chr12: 2,097,642-2,097,726 CACNA1C, DCP1B
    nsv7070214inversion1nstd229human GRCh38 chr12: 2,156,406-2,156,419 , GRCh37.p13 chr12: 2,265,572-2,265,585 CACNA1C, LOC107984131
    nsv7069391inversion1nstd229human GRCh38 chr12: 2,140,337-2,142,742 , GRCh37.p13 chr12: 2,249,503-2,251,908 CACNA1C, LOC107984131
    nsv7068624inversion1nstd229human GRCh38 chr12: 2,500,360-5,372,895 , GRCh37.p13 chr12: 2,609,526-5,482,061 LOC105369607, IQSEC3P1, 62 more genes
    nsv7068144inversion1nstd229human GRCh38 chr12: 2,422,464-2,424,098 , GRCh37.p13 chr12: 2,531,630-2,533,264 CACNA1C
    nsv7067571inversion1nstd229human GRCh38 chr12: 2,418,525-2,423,076 , GRCh37.p13 chr12: 2,527,691-2,532,242 CACNA1C
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