ptbp1[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
nsv6315510	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,911-1,319,319 , GRCh38.p12 chr19: 260,911-1,319,320	PTBP1, LOC101928450, 66 more genes
nsv3916147	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 786,550-1,297,499 , GRCh38 chr19: 786,550-1,297,500 , NCBI36 chr19: 737,550-1,248,499	PTBP1, LOC102725180, 36 more genes
nsv3904885	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923	PTBP1, ZNF321P, 2443 more genes
nsv3903203	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793	PTBP1, BABAM1, 2426 more genes
nsv3903092	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521	PTBP1, LENG8, 2408 more genes
nsv3924102	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 259,395-6,795,611 , GRCh37 chr19: 259,395-6,795,622 , NCBI36 chr19: 210,395-6,746,622	PTBP1, POLR2E, 283 more genes
nsv4457776	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,911-4,788,357 , GRCh38.p12 chr19: 260,911-4,788,345	PTBP1, BSG, 217 more genes
nsv3923561	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 184,565-4,650,484 , GRCh37 chr19: 233,565-4,699,484 , GRCh38 chr19: 233,565-4,699,472	PTBP1, DAPK3, 214 more genes
nsv4676189	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-4,384,674 , GRCh38.p12 chr19: 260,912-4,384,677	PTBP1, MRPL54, 198 more genes
nsv4676346	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,911-3,501,271 , GRCh38.p12 chr19: 260,911-3,501,273	PTBP1, AZU1, 159 more genes
nsv3909324	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,911-3,200,875 , GRCh38.p12 chr19: 260,911-3,200,877	PTBP1, LOC105372234, 152 more genes
nsv3921932	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 210,395-2,506,147 , GRCh37 chr19: 259,395-2,555,147 , GRCh38 chr19: 259,395-2,555,149	PTBP1, GZMM, 129 more genes
nsv3895304	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 277,373-2,555,164 , GRCh38.p12 chr19: 277,373-2,555,166	PTBP1, LOC100288123, 129 more genes
nsv6315518	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,911-2,256,387 , GRCh38.p12 chr19: 260,911-2,256,388	PTBP1, LOC100420586, 113 more genes
nsv3910990	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 259,395-2,068,507 , NCBI36 chr19: 210,395-2,019,506 , GRCh37 chr19: 259,395-2,068,506	PTBP1, SPMAP2, 102 more genes
nsv3922550	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 259,395-1,952,650 , GRCh37 chr19: 259,395-1,952,649 , NCBI36 chr19: 210,395-1,903,649	PTBP1, LOC102723811, 99 more genes
nsv3918029	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 226,925-1,843,275 , GRCh37 chr19: 275,925-1,892,275 , GRCh38 chr19: 275,925-1,892,276	PTBP1, GPX4, 94 more genes
nsv3899990	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-1,163,934 , GRCh38.p12 chr19: 260,912-1,163,935	PTBP1, CNN2, 52 more genes
nsv3922156	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 591,812-1,358,152 , GRCh37 chr19: 591,812-1,358,151 , NCBI36 chr19: 542,812-1,309,151	PTBP1, ARID3A, 52 more genes
nsv3923328	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 259,395-819,679 , NCBI36 chr19: 210,395-770,679 , GRCh38 chr19: 259,395-819,679	PTBP1, LOC100420586, 31 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 42

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Number of Variants: 20

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