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Items: 1 to 20 of 196

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7049659inversion1nstd229human GRCh38 chr2: 154,441,588-154,441,632 , GRCh37.p13 chr2: 155,298,100-155,298,144 GALNT13, GALNT13-AS1
    nsv7038090inversion1nstd229human GRCh38 chr2: 152,079,952-160,943,714 , GRCh37.p13 chr2: 152,936,466-161,800,225 , ITGB6, 105 more genes
    nsv6693496copy number variation1nstd229human GRCh38 chr2: 154,452,222-154,476,474 , GRCh37.p13 chr2: 155,308,734-155,332,986 GALNT13, LOC105373694, 1 more genes
    nsv6691783copy number variation1nstd229human GRCh38 chr2: 154,457,701-154,460,300 , GRCh37.p13 chr2: 155,314,213-155,316,812 GALNT13-AS1
    nsv6679239copy number variation1nstd229human GRCh38 chr2: 154,400,060-154,529,675 , GRCh37.p13 chr2: 155,256,572-155,386,187 GALNT13, LOC105373693, 2 more genes
    nsv6627274copy number variation1nstd224human GRCh37 chr2: 155,287,778-155,335,367 , GRCh38.p12 chr2: 154,431,266-154,478,855 GALNT13, LOC105373694, 1 more genes
    nsv6548394inversion1nstd223human GRCh38 chr2: 154,437,069-154,437,582 , GRCh37.p13 chr2: 155,293,581-155,294,094 GALNT13-AS1, GALNT13
    nsv6545135inversion1nstd223human GRCh38 chr2: 151,746,038-156,373,752 , GRCh37.p13 chr2: 152,602,552-157,230,264 , PRPF40A, 46 more genes
    nsv6541714inversion1nstd223human GRCh38 chr2: 148,865,353-155,671,569 , GRCh37.p13 chr2: 149,622,922-156,528,081 , LOC107985952, 79 more genes
    nsv6536596inversion1nstd223human GRCh38 chr2: 153,997,341-155,671,570 , GRCh37.p13 chr2: 154,853,854-156,528,082 LOC107985953, MTND4P28, 21 more genes
    nsv6354960copy number variation1nstd223human GRCh38 chr2: 154,442,801-154,443,800 , GRCh37.p13 chr2: 155,299,313-155,300,312 GALNT13-AS1, GALNT13
    nsv6342223copy number variation1nstd223human GRCh38 chr2: 154,446,801-154,447,300 , GRCh37.p13 chr2: 155,303,313-155,303,812 GALNT13, GALNT13-AS1
    nsv6339710copy number variation1nstd223human GRCh38 chr2: 154,452,091-154,452,736 , GRCh37.p13 chr2: 155,308,603-155,309,248 GALNT13-AS1, GALNT13
    nsv6338096copy number variation1nstd223human GRCh38 chr2: 154,444,601-154,445,500 , GRCh37.p13 chr2: 155,301,113-155,302,012 GALNT13-AS1, GALNT13
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6291446copy number variation1nstd102humanPathogenic GRCh37 chr2: 154,328,530-158,759,642 , GRCh38.p12 chr2: 153,472,016-157,903,130 RNU6-1001P, LOC105373709, 47 more genes
    nsv6291262copy number variation1nstd102humannot provided GRCh37 chr2: 152,967,964-160,089,210 , GRCh38.p12 chr2: 152,111,450-159,232,699 GALNT13-AS1, ARL6IP6, 85 more genes
    nsv6291000copy number variation1nstd102humanPathogenic GRCh37 chr2: 154,852,961-159,126,250 , GRCh38.p12 chr2: 153,996,448-158,269,738 LINC01876, ACVR1C, 52 more genes
    nsv6134506copy number variation1nstd213human GRCh37 chr2: 155,050,000-155,510,001 , GRCh38.p12 chr2: 154,193,487-154,653,489 GALNT13, GALNT13-AS1, 4 more genes
    nsv6134500copy number variation1nstd213human GRCh37 chr2: 149,790,000-179,310,001 , GRCh38.p12 chr2: 148,934,069-178,445,274 , ACVR1, 394 more genes
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