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Results: 1 to 20 of 22082

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Number of Variants: 20

Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
nsv1067896copy number variation1nstd51humanPathogenic GRCh38 (hg38) chr17: 68,522,756-68,522,926 , GRCh37 (hg19) chr17: 66,518,897-66,519,067 PRKAR1A
nsv1067885complex1nstd51humanPathogenic GRCh38 (hg38) chr12: 112,459,655-112,474,339 , GRCh37 (hg19) chr12: 112,897,459-112,912,143 PTPN11
nsv1067879copy number variation1nstd51humanPathogenic GRCh38 (hg38) chr19: 33,301,464-33,301,490 , GRCh37 (hg19) chr19: 33,792,370-33,792,396 CEBPA
nsv1067878copy number variation1nstd51humanPathogenic GRCh38 (hg38) chr19: 33,301,424-33,301,480 , GRCh37 (hg19) chr19: 33,792,330-33,792,386 CEBPA
nsv1067876copy number variation1nstd51humanPathogenic GRCh37 (hg19) chr19: 54,410,146-54,410,247 , GRCh38 (hg38) chr19: 53,906,892-53,906,993 PRKCG
esv3643566copy number variation1estd214human GRCh37 (hg19) chr19: 6,802,616-6,817,261 , GRCh38 (hg38) chr19: 6,802,605-6,817,250 VAV1
esv3593354copy number variation96estd214human GRCh37 (hg19) chr2: 172,831,488-172,842,076 HAT1
esv3618824copy number variation1estd214human GRCh37 (hg19) chr8: 131,111,562-131,122,132 , GRCh38 (hg38) chr8: 130,099,316-130,109,886 ASAP1
esv3629489copy number variation6estd214human GRCh37 (hg19) chr12: 51,175,021-51,189,044 , GRCh38 (hg38) chr12: 50,781,238-50,795,261 ATF1
esv3613232copy number variation2estd214human GRCh37 (hg19) chr7: 55,158,860-55,168,748 , GRCh38 (hg38) chr7: 55,091,167-55,101,055 EGFR
esv3595329copy number variation1estd214human GRCh37 (hg19) chr3: 12,659,884-12,678,489 , GRCh38 (hg38) chr3: 12,618,385-12,636,990 RAF1
esv3586036copy number variation1estd214human GRCh37 (hg19) chr1: 51,950,521-51,968,204 , GRCh38 (hg38) chr1: 51,484,849-51,502,532 EPS15
esv3607921copy number variation4estd214human GRCh37 (hg19) chr6: 3,070,299-3,073,113 , GRCh38 (hg38) chr6: 3,070,065-3,072,879 RIPK1
esv3598835copy number variation17estd214human GRCh37 (hg19) chr3: 178,878,240-178,884,263 , GRCh38 (hg38) chr3: 179,160,452-179,166,475 PIK3CA
esv3624545copy number variation1estd214human GRCh37 (hg19) chr10: 112,707,389-112,748,438 , GRCh38 (hg38) chr10: 110,947,631-110,988,680 SHOC2
esv3636790copy number variation637estd214human GRCh37 (hg19) chr15: 67,867,966-67,869,790 , GRCh38 (hg38) chr15: 67,575,628-67,577,452 MAP2K5
esv3645700copy number variation1estd214human GRCh37 (hg19) chr20: 33,012,301-33,017,125 , GRCh38 (hg38) chr20: 34,424,495-34,429,319 ITCH
esv3619853copy number variation3estd214human GRCh37 (hg19) chr9: 17,701,349-17,706,394 , GRCh38 (hg38) chr9: 17,701,351-17,706,396 SH3GL2
esv3586746copy number variation3estd214human GRCh37 (hg19) chr1: 89,257,648-89,260,132 , GRCh38 (hg38) chr1: 88,791,965-88,794,449 PKN2
esv3641067copy number variation3estd214human GRCh37 (hg19) chr17: 64,555,837-64,570,066 , GRCh38 (hg38) chr17: 66,559,719-66,573,948 PRKCA

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