jpt1[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
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	JPT1, PRPSAP1, 1350 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	JPT1, MIR3185, 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	JPT1, P4HB, 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	JPT1, MIR21, 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	JPT1, SMURF2, 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	JPT1, LOC105371922, 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	JPT1, FOXK2, 958 more genes
nsv4457646	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 62,778,720-81,041,938 , GRCh38.p12 chr17: 64,782,602-83,084,062	JPT1, LOC107985089, 448 more genes
nsv3909523	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 63,689,671-81,041,938 , GRCh38.p12 chr17: 65,693,553-83,084,062	JPT1, RPL38, 428 more genes
nsv3906075	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 67,002,415-81,041,938 , GRCh38.p12 chr17: 69,006,274-83,084,062	JPT1, CEP131, 374 more genes
nsv3917654	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 64,716,815-78,637,842 , GRCh37 chr17: 67,205,220-81,044,553 , GRCh38 chr17: 69,209,079-83,086,677	JPT1, LOC101928447, 368 more genes
nsv3919156	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 69,916,435-83,102,552 , GRCh37 chr17: 67,912,576-81,048,189 , NCBI36 chr17: 65,424,171-78,653,717	JPT1, CD300A, 359 more genes
nsv4350658	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 70,720,436-73,175,266 , GRCh38.p12 chr17: 72,724,297-75,179,171	JPT1, HID1-AS1, 67 more genes
nsv7148155	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 72,718,277-74,142,256 , GRCh38.p12 chr17: 74,722,138-76,146,175	JPT1, TRIM65, 74 more genes
nsv3972399	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 64,159,738-74,891,024 , GRCh38.p12 chr17: 66,163,620-76,894,942	JPT1, AANAT, 243 more genes
nsv6314018	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 73,049,227-73,533,226 , GRCh38.p12 chr17: 75,053,132-75,537,145	JPT1, MIF4GD-DT, 21 more genes
nsv7098900	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 72,864,876-73,328,878 , GRCh38.p12 chr17: 74,868,753-75,332,797	JPT1, CDR2L, 28 more genes
nsv3893105	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 72,901,452-73,518,861 , GRCh38.p12 chr17: 74,905,358-75,522,780	JPT1, ATP5PD, 33 more genes
nsv4676145	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 72,945,415-73,414,786 , GRCh38.p12 chr17: 74,949,320-75,418,705	JPT1, MIF4GD-DT, 27 more genes
nsv3907936	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 73,057,756-73,429,731 , GRCh38.p12 chr17: 75,061,661-75,433,650	JPT1, ARMC7, 16 more genes

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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 22

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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