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Items: 1 to 20 of 173

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098973copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 111,052,208-111,064,166 , GRCh38.p12 chr12: 110,614,403-110,626,361 TCTN1, RN7SL387P
    nsv7094123copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 111,079,754-111,082,915 , GRCh38.p12 chr12: 110,641,949-110,645,110 TCTN1
    nsv7093955copy number variation1nstd102humanPathogenic GRCh37 chr12: 111,064,147-111,074,326 , GRCh38.p12 chr12: 110,626,342-110,636,521 RN7SL387P, TCTN1
    nsv6931814copy number variation1nstd229human GRCh38 chr12: 110,644,312-110,644,669 , GRCh37.p13 chr12: 111,082,117-111,082,474 TCTN1
    nsv6931732copy number variation1nstd229human GRCh38 chr12: 108,914,683-113,697,537 , GRCh37.p13 chr12: 109,308,459-114,135,342 PTPN11, RPL31P49, 111 more genes
    nsv6929515copy number variation1nstd229human GRCh38 chr12: 110,633,558-110,638,329 , GRCh37.p13 chr12: 111,071,363-111,076,134 TCTN1
    nsv6929309copy number variation1nstd229human GRCh38 chr12: 110,641,948-110,645,111 , GRCh37.p13 chr12: 111,079,753-111,082,916 TCTN1
    nsv6588119inversion1nstd223human GRCh38 chr12: 110,621,586-110,622,031 , GRCh37.p13 chr12: 111,059,391-111,059,836 TCTN1
    nsv6585828inversion1nstd223human GRCh38 chr12: 110,630,977-110,631,566 , GRCh37.p13 chr12: 111,068,782-111,069,371 TCTN1
    nsv6583072inversion1nstd223human GRCh38 chr12: 110,615,169-110,615,293 , GRCh37.p13 chr12: 111,052,974-111,053,098 TCTN1
    nsv6493767copy number variation1nstd223human GRCh38 chr12: 110,627,386-110,627,980 , GRCh37.p13 chr12: 111,065,191-111,065,785 TCTN1
    nsv6483522copy number variation1nstd223human GRCh38 chr12: 110,620,140-110,621,870 , GRCh37.p13 chr12: 111,057,945-111,059,675 TCTN1
    nsv6309462copy number variation1nstd102humanPathogenic GRCh37 chr12: 111,064,147-111,064,317 , GRCh38.p12 chr12: 110,626,342-110,626,512 TCTN1, RN7SL387P
    nsv6291583copy number variation1nstd102humanPathogenic GRCh37 chr12: 104,230,462-111,984,801 , GRCh38.p12 chr12: 103,836,684-111,546,997 LOC105369964, LOC644746, 147 more genes
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132137copy number variation1nstd213human GRCh37 chr12: 110,580,000-111,480,001 , GRCh38.p12 chr12: 110,142,195-111,042,197 CUX2, IFT81, 21 more genes
    nsv6095703insertion1nstd212human GRCh38 chr12: 110,617,306-110,617,306 , GRCh37.p13 chr12: 111,055,111-111,055,111 TCTN1
    nsv6037953copy number variation1nstd212human GRCh38 chr12: 110,611,993-110,612,075 , GRCh37.p13 chr12: 111,049,798-111,049,880 TCTN1
    nsv6032998copy number variation1nstd212human GRCh38 chr12: 110,624,833-110,624,944 , GRCh37.p13 chr12: 111,062,638-111,062,749 TCTN1, RN7SL387P
    nsv6024118copy number variation1nstd212human GRCh38 chr12: 110,625,645-110,625,713 , GRCh37.p13 chr12: 111,063,450-111,063,518 RN7SL387P, TCTN1
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