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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673097copy number variation1nstd102humanPathogenic GRCh38 chr17: 18,162,687-18,167,722 , GRCh37 chr17: 18,066,001-18,071,036 MYO15A
    nsv4676348delins1nstd102humanPathogenic GRCh37 chr17: 18,054,799-18,058,246 , GRCh38 chr17: 18,151,485-18,154,932 MYO15A, LOC105371567
    nsv3890462copy number variation1nstd102humanPathogenic GRCh37 chr17: 17,200,426-21,900,910 , GRCh38.p12 chr17: 17,297,112-22,374,304 MYO15A, LOC100132977, 179 more genes
    nsv3919368copy number variation1nstd102humanPathogenic NCBI36 chr17: 15,704,477-20,556,000 , GRCh37.p13 chr17: 15,763,752-20,615,408 , GRCh38.p12 chr17: 15,860,438-20,712,095 MYO15A, CCDC144A, 196 more genes
    nsv3910522copy number variation1nstd102humanPathogenic GRCh37 chr17: 15,754,173-20,552,548 , GRCh38 chr17: 15,850,859-20,649,235 , NCBI36 chr17: 15,694,898-20,493,140 MYO15A, EEF1A1P43, 196 more genes
    nsv3917007copy number variation1nstd102humanPathogenic NCBI36 chr17: 15,573,932-20,354,156 , GRCh37 chr17: 15,633,207-20,413,564 , GRCh38 chr17: 15,729,893-20,510,251 MYO15A, LRRC75A, 193 more genes
    nsv3922067copy number variation1nstd102humanPathogenic NCBI36 chr17: 15,727,076-20,501,923 , GRCh38 chr17: 15,883,037-20,658,018 , GRCh37 chr17: 15,786,351-20,561,331 MYO15A, KRT16P4, 196 more genes
    nsv3922810copy number variation1nstd102humanPathogenic GRCh38 chr17: 15,883,037-20,620,700 , GRCh37 chr17: 15,786,351-20,524,013 , NCBI36 chr17: 15,727,076-20,464,605 MYO15A, SNORD49B, 194 more genes
    nsv3923405copy number variation1nstd102humanPathogenic NCBI36 chr17: 15,742,071-20,464,605 , GRCh38 chr17: 15,898,032-20,620,700 , GRCh37 chr17: 15,801,346-20,524,013 MYO15A, RPL21P121, 194 more genes
    nsv3908020copy number variation1nstd102humanPathogenic GRCh37 chr17: 15,745,315-20,261,191 , GRCh38.p12 chr17: 15,842,001-20,357,878 MYO15A, PEMT, 173 more genes
    nsv3924307copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,522,249-20,404,912 , GRCh37.p13 chr17: 16,581,524-20,464,320 , GRCh38.p12 chr17: 16,678,210-20,561,007 MYO15A, TOM1L2, 161 more genes
    nsv3915856copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,522,249-20,375,243 , GRCh37.p13 chr17: 16,581,524-20,434,651 , GRCh38.p12 chr17: 16,678,210-20,531,338 MYO15A, LOC105371567, 159 more genes
    nsv3876858copy number variation1nstd102humanPathogenic GRCh38 chr17: 16,770,855-20,585,863 , GRCh37.p13 chr17: 16,674,169-20,489,176 MYO15A, SLC47A1, 161 more genes
    nsv3905330copy number variation1nstd102humanPathogenic GRCh37 chr17: 16,660,721-20,417,975 , GRCh38.p12 chr17: 16,757,407-20,514,662 MYO15A, SHMT1, 153 more genes
    nsv3897589copy number variation1nstd102humanPathogenic GRCh37 chr17: 16,741,411-20,489,023 , GRCh38.p12 chr17: 16,838,097-20,585,710 MYO15A, GRAPL-AS1, 152 more genes
    nsv3921562copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,500,201-20,234,602 , GRCh37 chr17: 16,559,476-20,294,010 , GRCh38 chr17: 16,656,162-20,390,697 MYO15A, TRW-CCA2-1, 148 more genes
    nsv3924631copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,543,855-20,272,197 , GRCh37 chr17: 16,603,130-20,331,605 , GRCh38 chr17: 16,699,816-20,428,292 MYO15A, EPN2-AS1, 148 more genes
    nsv3920728copy number variation1nstd102humanPathogenic GRCh37 chr17: 16,761,814-20,462,650 , NCBI36 chr17: 16,702,539-20,403,242 , GRCh38 chr17: 16,858,500-20,559,337 MYO15A, SMCR2, 145 more genes
    nsv3912949copy number variation1nstd102humanPathogenic GRCh38 chr17: 16,699,816-20,390,725 , GRCh37 chr17: 16,603,130-20,294,038 , NCBI36 chr17: 16,543,855-20,234,630 MYO15A, RPL7AP65, 145 more genes
    nsv3893850copy number variation1nstd102humanPathogenic GRCh37 chr17: 16,741,411-20,430,791 , GRCh38.p12 chr17: 16,838,097-20,527,478 MYO15A, KRT17P4, 146 more genes
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