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Items: 1 to 20 of 121

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728307copy number variation1nstd102humanUncertain significance GRCh37 chr2: 203,658,040-203,743,708 , GRCh38.p12 chr2: 202,793,317-202,878,985 WDR12, ICA1L, 1 more genes
    nsv4674597copy number variation1nstd102humanPathogenic GRCh37 chr2: 201,106,432-204,901,548 , GRCh38.p12 chr2: 200,241,709-204,036,825 KIAA2012-AS1, SNORD11, 113 more genes
    nsv4674491copy number variation1nstd102humanPathogenic GRCh37 chr2: 202,772,963-205,218,660 , GRCh38.p12 chr2: 201,908,240-204,353,937 LOC100287425, WDR12, 55 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4674175copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,228,906-203,905,293 , GRCh38.p12 chr2: 202,364,183-203,040,570 BMPR2, WDR12, 18 more genes
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
    nsv4072606copy number variation1nstd166human GRCh37.p13 chr2: 203,652,097-203,743,378 , GRCh38.p12 chr2: 202,787,374-202,878,655 WDR12, ICA1L, 1 more genes
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3908231copy number variation1nstd102humanPathogenic NCBI36 chr2: 196,233,563-204,542,456 , GRCh38 chr2: 195,660,594-203,969,488 , GRCh37 chr2: 196,525,318-204,834,211 LINC01877, MAIP1, 170 more genes
    nsv3908112copy number variation1nstd102humanPathogenic GRCh38 chr2: 190,310,736-241,892,770 , NCBI36 chr2: 190,883,707-242,483,594 , GRCh37 chr2: 191,175,462-242,834,921 LOC101928084, ECEL1P1, 871 more genes
    nsv3906622copy number variation1nstd102humanPathogenic GRCh38 chr2: 202,631,428-204,929,860 , NCBI36 chr2: 203,204,396-205,502,828 , GRCh37 chr2: 203,496,151-205,794,583 ICOS, FAM117B, 31 more genes
    nsv3903696copy number variation1nstd102humanPathogenic NCBI36 chr2: 200,510,241-210,604,893 , GRCh37 chr2: 200,801,996-210,896,648 , GRCh38 chr2: 199,937,273-210,031,924 MTND4P23, BICD1P1, 206 more genes
    nsv3902143copy number variation1nstd102humanPathogenic GRCh38 chr2: 180,513,793-224,302,848 , NCBI36 chr2: 181,086,765-224,875,809 , GRCh37 chr2: 181,378,520-225,167,565 LINC00607, ABCA12, 644 more genes
    nsv3896612copy number variation1nstd102humanPathogenic GRCh38 chr2: 192,938,826-215,705,052 , NCBI36 chr2: 193,511,797-216,278,020 , GRCh37 chr2: 193,803,552-216,569,775 MTND4P30, NPM1P46, 320 more genes
    nsv3896499copy number variation1nstd102humanPathogenic GRCh37 chr2: 190,300,875-242,783,384 , NCBI36 chr2: 190,009,120-242,432,057 , GRCh38 chr2: 189,436,149-241,841,232 RNU6-1206P, MIR3131, 883 more genes
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