tpc2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 19

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3907188	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 68,815,523-68,846,399 , GRCh38.p12 chr11: 69,048,055-69,078,931	TPCN2
nsv3892515	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 68,818,936-68,846,399 , GRCh38.p12 chr11: 69,051,468-69,078,931	TPCN2
nsv3895876	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 68,819,011-68,844,747 , GRCh38.p12 chr11: 69,051,543-69,077,279	TPCN2
nsv3893434	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 68,835,840-68,846,399 , GRCh38.p12 chr11: 69,068,372-69,078,931	TPCN2
nsv3897872	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 68,840,397-68,846,399 , GRCh38.p12 chr11: 69,072,929-69,078,931	TPCN2
nsv3906413	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 68,840,397-68,844,747 , GRCh38.p12 chr11: 69,072,929-69,077,279	TPCN2
nsv3900520	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 68,840,397-68,844,693 , GRCh38.p12 chr11: 69,072,929-69,077,225	TPCN2
nsv3908316	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 68,844,147-68,846,399 , GRCh38.p12 chr11: 69,076,679-69,078,931	TPCN2
nsv3907499	copy number variation	1	nstd102	human	Benign	GRCh37 chr11: 68,844,198-68,846,399 , GRCh38.p12 chr11: 69,076,730-69,078,931	TPCN2
nsv5380796	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397	FAUP4, MMP7, 2031 more genes
nsv3893233	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 70,864-134,938,470 , GRCh38.p12 chr11: 70,864-135,068,576	LOC105376598, OSBPL9P2, 2842 more genes
nsv3900144	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 198,510-134,934,063 , GRCh38.p12 chr11: 198,510-135,064,169	RTN3, KRTAP5-13P, 2833 more genes
nsv3908873	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576	IGHMBP2, SYTL2, 2829 more genes
nsv6315537	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 32,799,481-134,938,470 , GRCh38.p12 chr11: 32,777,935-135,068,576	PYGM, ATL3, 2125 more genes
nsv3917463	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr11: 67,555,736-70,982,189 , GRCh37 chr11: 67,799,160-71,304,541 , GRCh38 chr11: 68,031,693-71,593,495	CCND1, CHKA, 71 more genes
nsv3909768	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 67,799,160-70,701,268 , GRCh38.p12 chr11: 68,031,693-70,855,163	CCND1, CHKA, 56 more genes
nsv3920906	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr11: 66,741,311-68,972,547 , GRCh37 chr11: 66,984,735-69,263,366 , GRCh38 chr11: 67,217,264-69,448,598	GRK2, ALDH3B1, 82 more genes
nsv3914930	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr11: 67,973,430-69,395,243 , GRCh38 chr11: 68,205,963-69,580,475 , NCBI36 chr11: 67,730,006-69,104,424	LINC02747, LOC105369366, 27 more genes
nsv7094093	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr11: 64,973,914-70,052,579 , GRCh38.p12 chr11: 65,206,443-70,206,473	B4GAT1, CHKA-DT, 208 more genes

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tpc2[All Fields] AND 1[has_clinical] (20)
dbVar
Mitochondrial complex III deficiency nuclear type 4
Mitochondrial complex III deficiency nuclear type 4

MedGen
C3554607[conceptid] (1)
MedGen

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