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Items: 1 to 20 of 815

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148271copy number variation1nstd102humanPathogenic GRCh38 chr18: 158,286-14,124,574 , GRCh37.p13 chr18: 158,286-14,124,573 PMM2P2, EIF4A2P1, 225 more genes
    nsv7139374copy number variation1nstd232human GRCh37.p13 chr18: 5,457,105-5,457,204 , GRCh38.p12 chr18: 5,457,106-5,457,205 EPB41L3
    nsv7098917copy number variation1nstd102humanPathogenic GRCh37 chr18: 1-15,400,035 , GRCh38.p12 chr18: 10,001-15,400,036 RNU7-25P, RPL6P27, 275 more genes
    nsv7098708complex chromosomal rearrangement6nstd230human GRCh37 chr1: 63,175,753-63,175,753 , GRCh37 chr1: 64,277,270-64,277,270 , GRCh37 chr9: 14,648,284-14,648,284 , GRCh37 chr9: 14,648,284-14,648,284 , GRCh37 chr9: 18,390,132-18,390,132 , GRCh37 chr9: 18,390,138-18,390,138 , GRCh37 chr9: 20,518,296-20,518,296 , GRCh37 chr9: 20,518,297-20,518,297 , GRCh37 chr18: 5,597,977-5,597,977 , GRCh37 chr18: 5,597,983-5,597,983 , GRCh37 chr18: 51,216,426-51,216,426 , GRCh37 chr18: 59,659,103-59,659,103 , GRCh38.p12 chr1: 62,710,082-62,710,082 , GRCh38.p12 chr1: 63,811,599-63,811,599 , GRCh38.p12 chr18: 5,597,978-5,597,978 , GRCh38.p12 chr18: 5,597,984-5,597,984 , GRCh38.p12 chr18: 53,690,056-53,690,056 , GRCh38.p12 chr18: 61,991,870-61,991,870 , GRCh38.p12 chr9: 14,648,286-14,648,286 , GRCh38.p12 chr9: 14,648,286-14,648,286 , GRCh38.p12 chr9: 18,390,134-18,390,134 , GRCh38.p12 chr9: 18,390,140-18,390,140 , GRCh38.p12 chr9: 20,518,298-20,518,298 , GRCh38.p12 chr9: 20,518,299-20,518,299 MLLT3, ROR1, 4 more genes
    nsv7077004inversion1nstd229human GRCh38 chr18: 5,041,429-5,620,611 , GRCh37.p13 chr18: 5,041,428-5,620,610 ZBTB14, BOD1P2, 10 more genes
    nsv7072282inversion1nstd229human GRCh38 chr18: 5,225,526-5,700,194 , GRCh37.p13 chr18: 5,225,525-5,700,193 LOC100422274, LOC107985144, 7 more genes
    nsv7061708inversion1nstd229human GRCh38 chr18: 5,513,294-5,528,943 , GRCh37.p13 chr18: 5,513,293-5,528,942 EPB41L3
    nsv7015128copy number variation1nstd229human GRCh38 chr18: 4,434,377-14,413,632 , GRCh37.p13 chr18: 4,434,377-14,413,631 RAB31, THEMIS3P, 167 more genes
    nsv7013574copy number variation1nstd229human GRCh38 chr18: 5,573,623-5,960,453 , GRCh37.p13 chr18: 5,573,622-5,960,452 TMEM200C, MIR3976HG, 4 more genes
    nsv7012694copy number variation1nstd229human GRCh38 chr18: 5,520,947-5,526,345 , GRCh37.p13 chr18: 5,520,946-5,526,344 EPB41L3
    nsv7011896copy number variation1nstd229human GRCh38 chr18: 5,510,426-5,513,349 , GRCh37.p13 chr18: 5,510,425-5,513,348 EPB41L3
    nsv7010393copy number variation1nstd229human GRCh38 chr18: 5,502,670-5,507,522 , GRCh37.p13 chr18: 5,502,669-5,507,521 EPB41L3
    nsv7010286copy number variation1nstd229human GRCh38 chr18: 5,620,206-5,620,399 , GRCh37.p13 chr18: 5,620,205-5,620,398 LOC100286986, EPB41L3
    nsv7010126copy number variation1nstd229human GRCh38 chr18: 5,492,284-5,492,520 , GRCh37.p13 chr18: 5,492,283-5,492,519 EPB41L3
    nsv7008474copy number variation1nstd229human GRCh38 chr18: 5,558,107-5,562,973 , GRCh37.p13 chr18: 5,558,106-5,562,972 LOC107985145, EPB41L3
    nsv7007189copy number variation1nstd229human GRCh38 chr18: 5,469,213-5,474,423 , GRCh37.p13 chr18: 5,469,212-5,474,422 EPB41L3
    nsv7007008copy number variation1nstd229human GRCh38 chr18: 5,628,123-5,636,913 , GRCh37.p13 chr18: 5,628,122-5,636,912 EPB41L3, LOC100286986
    nsv7006983copy number variation1nstd229human GRCh38 chr18: 5,516,460-5,522,071 , GRCh37.p13 chr18: 5,516,459-5,522,070 EPB41L3
    nsv7006977copy number variation1nstd229human GRCh38 chr18: 5,459,776-5,462,236 , GRCh37.p13 chr18: 5,459,775-5,462,235 EPB41L3
    nsv7006671copy number variation1nstd229human GRCh38 chr18: 5,449,205-5,449,261 , GRCh37.p13 chr18: 5,449,204-5,449,260 EPB41L3
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