rpe65[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
nsv6310891	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 68,895,449-68,915,598 , GRCh38.p12 chr1: 68,429,766-68,449,915	RPE65
nsv7096061	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 68,910,194-68,912,563 , GRCh38.p12 chr1: 68,444,511-68,446,880	RPE65
nsv5673175	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 68,912,383-68,912,553 , GRCh38.p12 chr1: 68,446,700-68,446,870	RPE65
nsv6310569	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 68,906,599-68,906,675 , GRCh38 chr1: 68,440,916-68,440,992	RPE65
nsv6315062	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 68,896,860-68,903,869 , GRCh38.p12 chr1: 68,431,177-68,438,186	RPE65
nsv7096001	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 68,895,459-68,915,588 , GRCh38.p12 chr1: 68,429,776-68,449,905	RPE65
nsv5381137	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 68,914,307-68,919,076 , GRCh38.p12 chr1: 68,448,624-68,453,393	RPE65
nsv4682541	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 68,903,870-68,949,773 , GRCh38.p12 chr1: 68,438,187-68,484,090	RPE65, DEPDC1
nsv3901546	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 59,057,865-86,336,882 , GRCh37 chr1: 59,285,277-86,564,294 , GRCh38 chr1: 58,819,605-86,098,611	RPE65, ROR1, 333 more genes
nsv6313574	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 68,180,293-92,731,957 , GRCh38.p12 chr1: 67,714,610-92,266,400	RPE65, RNA5SP51, 315 more genes
nsv3886551	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 64,321,264-88,153,669 , GRCh38.p12 chr1: 63,855,593-87,687,986	RPE65, RNU6-1102P, 291 more genes
nsv4454000	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 67,851,233-86,101,340 , GRCh38.p12 chr1: 67,385,550-85,635,657	RPE65, NEXN, 209 more genes
nsv3884583	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 61,351,024-79,583,933 , GRCh38.p12 chr1: 60,885,352-79,118,248	RPE65, MIR7156, 243 more genes
nsv3903468	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 59,870,760-76,969,150 , GRCh37 chr1: 60,098,172-77,196,562 , GRCh38 chr1: 59,632,500-76,730,877	RPE65, WLS, 219 more genes
nsv3909388	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 57,816,246-71,791,607 , GRCh38 chr1: 57,350,574-71,325,924 , NCBI36 chr1: 57,588,834-71,564,195	RPE65, RNU6-1031P, 193 more genes
nsv4453663	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 59,922,631-72,058,653 , GRCh38.p12 chr1: 59,456,959-71,592,970	RPE65, RNU6-387P, 170 more genes
nsv3901841	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 59,760,856-71,578,052 , NCBI36 chr1: 59,999,116-71,816,323 , GRCh37 chr1: 60,226,528-72,043,735	RPE65, MIR3116-2, 169 more genes
nsv3901058	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 60,473,800-70,944,955 , NCBI36 chr1: 60,712,060-71,183,226 , GRCh37 chr1: 60,939,472-71,410,638	RPE65, UBE2U, 150 more genes
nsv3891330	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 59,057,865-69,345,379 , GRCh37 chr1: 59,285,277-69,572,791 , GRCh38 chr1: 58,819,605-69,107,108	RPE65, RPS7P4, 148 more genes
nsv3908260	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 67,330,808-77,589,066 , NCBI36 chr1: 67,103,396-77,361,654 , GRCh38 chr1: 66,865,125-77,123,381	RPE65, RNA5SP50, 119 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 33

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 33

Page of 2

Number of Variants: 20

Page of 2

Supplemental Content

Find related data

Search details

Recent activity