pth[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7093762	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 13,513,952-13,514,402 , GRCh38.p12 chr11: 13,492,405-13,492,855	PTH
nsv4716521	copy number variation	1	nstd102	human	Likely pathogenic	GRCh38 chr17: 59,679,324-59,702,065 , GRCh37.p13 chr17: 57,756,685-57,779,426	CLTC, PTRH2
nsv6314193	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 57,665,341-57,873,701 , GRCh38.p12 chr17: 59,587,980-59,796,340	PTRH2, CLTC, 2 more genes
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	PTH, FAUP4, 2031 more genes
nsv3911811	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577	PRPSAP1, CACNG1, 1350 more genes
nsv3915585	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr11: 9,967,639-16,803,929 , GRCh37 chr11: 10,011,063-16,847,353 , GRCh38 chr11: 9,989,516-16,825,806	PTH, BTBD10, 86 more genes
nsv3895056	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 56,623,275-60,285,107 , GRCh38.p12 chr17: 58,545,914-62,207,746	MIR454, VMP1, 87 more genes
nsv3914957	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 55,496,167-57,812,825 , GRCh38 chr17: 57,418,806-59,735,464 , NCBI36 chr17: 52,851,166-55,167,607	CLTC, LOC101927557, 67 more genes
nsv6291649	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 57,605,300-59,389,547 , GRCh38.p12 chr17: 59,527,939-61,312,186	RNU4-13P, PTRH2, 48 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	PTH, LOC105376598, 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	PTH, RTN3, 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	PTH, IGHMBP2, 2829 more genes
nsv3903684	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004	MIR3185, YWHAEP6, 2366 more genes
nsv3899740	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564	P4HB, LOC105371808, 2366 more genes
nsv3906245	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251	MIR21, LOC105371899, 2366 more genes
nsv3907261	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062	SMURF2, LOC112268199, 2366 more genes
nsv3914783	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577	LOC105371922, GJD3, 1855 more genes
nsv3909511	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846	FOXK2, SOCS3-DT, 958 more genes
nsv3913552	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225	RNU6-131P, ZNF652, 1075 more genes
nsv3898926	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 230,615-37,698,540 , GRCh38.p12 chr11: 230,615-37,676,990	PTH, OR51L1, 771 more genes

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Number of Variants: 20

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 37

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Number of Variants: 20

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