prpf38b[All Fields] AND 1[has_clinical] - dbVar

loading data ...

Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6313675	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 95,046,805-114,714,931 , GRCh38.p12 chr1: 94,581,249-114,172,309	PRPF38B, LINC01307, 320 more genes
nsv5381058	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855	PRPF38B, AMYP1, 320 more genes
nsv3893941	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 97,648,746-111,014,655 , GRCh37 chr1: 97,876,158-111,213,132 , GRCh38 chr1: 97,410,602-110,670,510	PRPF38B, RPSAP19, 196 more genes
nsv3909776	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 97,737,905-109,435,760 , GRCh38 chr1: 97,272,349-108,893,138 , NCBI36 chr1: 97,510,493-109,237,283	PRPF38B, SNX7, 133 more genes
nsv3901500	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 101,856,241-112,047,173 , GRCh38 chr1: 101,618,097-111,703,028 , GRCh37 chr1: 102,083,653-112,245,650	PRPF38B, CHIAP1, 171 more genes
nsv3920130	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 103,429,843-112,252,782 , GRCh37.p13 chr1: 103,657,255-112,451,259 , GRCh38.p12 chr1: 103,191,699-111,908,637	PRPF38B, LOC105378898, 166 more genes
nsv3901806	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 105,812,437-112,534,771 , GRCh38 chr1: 105,468,292-112,190,626 , GRCh37 chr1: 106,010,914-112,733,248	PRPF38B, LOC126987, 151 more genes
nsv3909407	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 106,617,209-110,686,912 , GRCh38 chr1: 106,074,587-110,144,290 , NCBI36 chr1: 106,418,732-110,488,435	PRPF38B, PSMA5, 81 more genes
nsv7095739	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 108,679,275-111,674,176 , GRCh38.p12 chr1: 108,136,653-111,131,554	PRPF38B, RPL7L1P21, 90 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	PRPF38B, MARK1, 4930 more genes
nsv3885206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793	PRPF38B, SNAP47, 4927 more genes
nsv3884414	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485	PRPF38B, RNU1-153P, 4887 more genes
nsv3882464	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 93,837,992-121,343,783 , GRCh38.p12 chr1: 93,372,435-121,601,985	PRPF38B, LINC02607, 513 more genes
nsv3884558	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 94,054,724-111,671,707 , GRCh38.p12 chr1: 93,589,167-111,129,085	PRPF38B, SLC25A24, 265 more genes
nsv3890331	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 104,669,629-120,321,801 , GRCh37 chr1: 104,868,106-120,471,049 , GRCh38 chr1: 104,325,484-119,977,655	PRPF38B, OR11I1P, 324 more genes
nsv3875681	copy number variation	1	nstd102	human	Likely pathogenic	GRCh38 chr1: 103,175,204-111,410,059 , GRCh37.p13 chr1: 103,640,760-111,952,681	PRPF38B, ALX3, 146 more genes
nsv4436700	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 107,779,092-111,199,205 , GRCh38.p12 chr1: 107,236,470-110,656,583	PRPF38B, ALX3, 89 more genes
nsv4453642	copy number variation	1	nstd102	human	not provided	GRCh37 chr1: 108,926,313-111,266,497 , GRCh38.p12 chr1: 108,383,691-110,723,875	PRPF38B, PSMA5, 79 more genes
nsv6290678	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 108,346,477-110,177,123 , GRCh38.p12 chr1: 107,803,855-109,634,501	PRPF38B, SYPL2, 53 more genes
nsv7095693	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 108,679,275-109,493,059 , GRCh38.p12 chr1: 108,136,653-108,950,437	PRPF38B, AKNAD1, 18 more genes

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

Send to:

Search results

Items: 1 to 20 of 21

Number of Variants: 20

Send to:

Supplemental Content

Find related data

Search details

Recent activity

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 21

Page of 2

Number of Variants: 20

Page of 2

Supplemental Content

Find related data

Search details

Recent activity