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Items: 1 to 20 of 181

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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
    nsv5310020copy number variation1nstd204human GRCh38.p13 chr2: 197,465,509-197,467,122 , GRCh37.p13 chr2: 198,330,233-198,331,846 COQ10B
    nsv5207708copy number variation1nstd204human GRCh38.p13 chr2: 197,462,501-197,474,400 , GRCh37.p13 chr2: 198,327,225-198,339,124 COQ10B
    nsv4913798copy number variation1nstd200human GRCh38 chr2: 197,449,800-197,458,991 , GRCh37.p13 chr2: 198,314,524-198,323,715 COQ10B
    nsv4804532copy number variation1nstd200human GRCh37 chr2: 198,314,498-198,323,755 , GRCh38.p12 chr2: 197,449,774-197,459,031 COQ10B
    nsv4768322copy number variation1nstd102humanPathogenic GRCh37 chr2: 197,359,024-201,383,462 , GRCh38.p12 chr2: 196,494,300-200,518,739 ANKRD44-DT, ATP5MC2P3, 48 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
    nsv4716529copy number variation1nstd102humanPathogenic GRCh37 chr2: 190,345,272-200,212,289 , GRCh38.p12 chr2: 189,480,546-199,347,566 C2orf66, LINC01821, 105 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
    nsv4583160copy number variation1nstd183human GRCh37 chr2: 198,327,341-198,340,000 , GRCh38.p12 chr2: 197,462,617-197,475,276 COQ10B
    nsv4453090copy number variation1nstd102humanPathogenic GRCh37 chr2: 195,786,723-200,531,127 , GRCh38.p12 chr2: 194,921,999-199,666,404 RFTN2, HECW2, 54 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
    nsv4091593copy number variation1nstd166human GRCh37.p13 chr2: 198,319,508-198,319,923 , GRCh38.p12 chr2: 197,454,784-197,455,199 COQ10B
    nsv4088685copy number variation1nstd166human GRCh37.p13 chr2: 198,314,582-198,323,692 , GRCh38.p12 chr2: 197,449,858-197,458,968 COQ10B
    nsv4074409copy number variation1nstd166human GRCh37.p13 chr2: 198,327,543-198,328,200 , GRCh38.p12 chr2: 197,462,819-197,463,476 COQ10B
    nsv4073098copy number variation1nstd166human GRCh37.p13 chr2: 198,336,000-198,341,000 , GRCh38.p12 chr2: 197,471,276-197,476,276 COQ10B
    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
    nsv3923866copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 195,941,520-200,787,299 , GRCh37.p13 chr2: 196,233,275-201,079,054 , GRCh38.p12 chr2: 195,368,551-200,214,331 HSPD1, HSPE1, 60 more genes
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