ston1[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
nsv6315067	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 48,691,017-48,697,100 , GRCh37 chr2: 48,918,156-48,924,239	LHCGR, STON1-GTF2A1L
nsv3908265	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 48,715,407-48,842,084 , GRCh37 chr2: 48,861,903-48,988,580 , GRCh38 chr2: 48,634,764-48,761,441	GTF2A1L, STON1-GTF2A1L, 1 more genes
nsv3881749	copy number variation	1	nstd102	human	Benign	GRCh37 chr2: 48,935,392-49,129,890 , GRCh38.p12 chr2: 48,708,253-48,902,751	LHCGR, STON1-GTF2A1L, 2 more genes
nsv3887276	copy number variation	1	nstd102	human	Benign	GRCh37 chr2: 48,851,517-48,862,902 , GRCh38.p12 chr2: 48,624,378-48,635,763	GTF2A1L, STON1-GTF2A1L, 1 more genes
nsv3880331	copy number variation	1	nstd102	human	Benign	GRCh37 chr2: 48,707,080-48,763,742 , GRCh38.p12 chr2: 48,479,941-48,536,603	STON1, STON1-GTF2A1L, 2 more genes
nsv4673951	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 48,874,796-48,958,998 , GRCh38.p12 chr2: 48,647,657-48,731,859	LHCGR, STON1-GTF2A1L, 1 more genes
nsv6634330	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419	STON1, CYP1B1-AS1, 1649 more genes
nsv3875808	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 47,361,260-54,934,153 , GRCh38.p12 chr2: 47,134,121-54,707,016	STON1, FOXN2, 85 more genes
nsv3898065	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 47,033,357-50,792,676 , NCBI36 chr2: 46,886,861-50,646,180 , GRCh38 chr2: 46,806,218-50,565,538	STON1, CALM2, 49 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	STON1, LOC112268439, 3737 more genes
nsv3874648	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305	STON1, IGKV2OR2-10, 3737 more genes
nsv3885544	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609	STON1, RNU6-674P, 3735 more genes
nsv3882615	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232	STON1, MTND2P22, 3724 more genes
nsv3908605	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277	STON1, SLC35F6, 801 more genes
nsv3916821	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 47,701,031-86,783,356 , GRCh37.p13 chr2: 47,847,527-86,929,845 , GRCh38.p12 chr2: 47,620,388-86,702,722	STON1, NAGK, 595 more genes
nsv3875055	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 27,861,707-60,790,985 , GRCh38.p12 chr2: 27,638,840-60,563,850	STON1, RPL7P13, 426 more genes
nsv3879320	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 22,665,048-52,850,368 , GRCh38.p12 chr2: 22,442,176-52,623,230	STON1, ATL2, 465 more genes
nsv3882842	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 34,792,916-56,676,541 , GRCh38.p12 chr2: 34,567,849-56,449,406	STON1, MSH6, 303 more genes
nsv3905626	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 40,965,422-58,090,956 , GRCh38 chr2: 40,738,282-57,863,821 , NCBI36 chr2: 40,818,926-57,944,460	STON1, RNU6-433P, 220 more genes
nsv6314726	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196	STON1, ACTG2, 1713 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 32

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 32

Page of 2

Number of Variants: 20

Page of 2

Supplemental Content

Find related data

Search details

Recent activity