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Items: 1 to 20 of 170

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    nsv7145024insertion1nstd232human GRCh37.p13 chr1: 232,447,858-232,447,858 , GRCh38.p12 chr1: 232,312,112-232,312,112 LOC101929902
    nsv7099267copy number variation1nstd231human GRCh38.p12 chr1: 232,067,274-232,542,696 , GRCh37 chr1: 232,203,020-232,678,442 SIPA1L2, LOC101929902, 4 more genes
    nsv7099266copy number variation1nstd231human GRCh38.p12 chr1: 226,993,371-235,936,592 , GRCh37 chr1: 227,181,072-236,099,892 ACTA1, AGT, 223 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7048727inversion1nstd229human GRCh38 chr1: 231,257,209-234,326,619 , GRCh37.p13 chr1: 231,392,955-234,462,365 LOC105373171, LINC01744, 44 more genes
    nsv7044357inversion1nstd229human GRCh38 chr1: 230,487,375-232,830,868 , GRCh37.p13 chr1: 230,623,121-232,966,614 ARV1, C1orf131, 51 more genes
    nsv7044310inversion1nstd229human GRCh38 chr1: 230,890,958-235,370,433 , GRCh37.p13 chr1: 231,026,704-235,533,748 TARBP1, LOC105373170, 86 more genes
    nsv7042899inversion1nstd229human GRCh38 chr1: 228,807,456-232,597,605 , GRCh37.p13 chr1: 228,943,203-232,733,351 LOC102723935, LOC107985357, 73 more genes
    nsv6672675copy number variation1nstd229human GRCh38 chr1: 232,165,805-232,319,798 , GRCh37.p13 chr1: 232,301,551-232,455,544 RN7SL299P, LOC101929902
    nsv6666620copy number variation1nstd229human GRCh38 chr1: 231,917,609-232,342,098 , GRCh37.p13 chr1: 232,053,355-232,477,844 DISC1, LOC101929902, 5 more genes
    nsv6636813copy number variation1nstd102humanUncertain significance GRCh37 chr1: 231,949,332-233,142,053 , GRCh38.p12 chr1: 231,813,586-233,006,307 TSNAX-DISC1, LOC105373171, 21 more genes
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6636265copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 227,992,928-236,659,905 , GRCh38.p12 chr1: 227,805,227-236,496,605 ACTA1, AGT, 211 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6333235copy number variation1nstd223human GRCh38 chr1: 230,091,353-232,880,145 , GRCh37.p13 chr1: 230,227,100-233,015,891 LOC105373196, RN7SL837P, 53 more genes
    nsv6332216copy number variation1nstd223human GRCh38 chr1: 232,208,694-232,347,976 , GRCh37.p13 chr1: 232,344,440-232,483,722 RN7SL299P, LOC101929902
    nsv6332080copy number variation1nstd223human GRCh38 chr1: 232,309,683-232,368,271 , GRCh37.p13 chr1: 232,445,429-232,504,017 LOC101929902, LOC105373196
    nsv6225050insertion2nstd214human GRCh38 chr1: 232,312,112-232,312,112 , GRCh37.p13 chr1: 232,447,858-232,447,858 LOC101929902
    nsv6133983copy number variation1nstd213human GRCh37 chr1: 231,890,000-235,190,001 , GRCh38.p12 chr1: 231,754,254-235,054,254 KCNK1, PCNX2, 54 more genes
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