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Items: 1 to 20 of 144

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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
    nsv5446682copy number variation1nstd206human GRCh38 chr2: 218,274,039-218,274,220 , GRCh37.p13 chr2: 219,138,762-219,138,943 PNKD, TMBIM1
    nsv5442204copy number variation1nstd206human GRCh38 chr2: 218,278,893-218,284,832 , GRCh37.p13 chr2: 219,143,616-219,149,555 PNKD, TMBIM1, 1 more genes
    nsv5377354translocation1nstd200human GRCh38 chr19: 36,667,948-36,667,948 , GRCh38 chr2: 218,292,933-218,292,933 , GRCh37.p13 chr19: 37,158,850-37,158,850 , GRCh37.p13 chr2: 219,157,656-219,157,656 PNKD, TMBIM1, 1 more genes
    nsv5205806copy number variation1nstd204human GRCh38.p13 chr2: 218,240,201-218,420,200 , GRCh37.p13 chr2: 219,104,924-219,284,923 CATIP, CATIP-AS1, 16 more genes
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    nsv4916892copy number variation1nstd200human GRCh38 chr2: 218,274,093-218,278,039 , GRCh37.p13 chr2: 219,138,816-219,142,762 PNKD, TMBIM1
    nsv4795988copy number variation1nstd200human GRCh37 chr2: 219,148,175-219,150,896 , GRCh38.p12 chr2: 218,283,452-218,286,173 PNKD, TMBIM1
    nsv4795987copy number variation1nstd200human GRCh37 chr2: 219,138,815-219,142,763 , GRCh38.p12 chr2: 218,274,092-218,278,040 TMBIM1, PNKD
    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
    nsv4728446copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 215,122,019-220,397,907 , GRCh38.p12 chr2: 214,257,295-219,533,185 AAMP, ATIC, 139 more genes
    nsv4673965copy number variation1nstd102humanPathogenic GRCh37 chr2: 216,883,237-220,953,003 , GRCh38.p12 chr2: 216,018,514-220,088,282 LOC105373887, STK11IP, 138 more genes
    nsv4583383copy number variation1nstd183human GRCh37 chr2: 219,157,156-219,157,328 , GRCh38.p12 chr2: 218,292,433-218,292,605 TMBIM1, PNKD
    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
    nsv4435891copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,779,657-239,879,183 , GRCh38.p12 chr2: 209,914,933-238,957,487 XRCC5, LINC01173, 494 more genes
    nsv4347291copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 218,271,898-219,825,640 , GRCh38.p12 chr2: 217,407,175-218,960,918 AAMP, BCS1L, 51 more genes
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
    nsv4084935copy number variation1nstd166human GRCh37.p13 chr2: 219,152,192-219,152,869 , GRCh38.p12 chr2: 218,287,469-218,288,146 PNKD, TMBIM1
    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
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