alms1[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
nsv4682041	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,716,751-73,830,441 , GRCh38.p12 chr2: 73,489,624-73,603,314	ALMS1
nsv6311941	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,716,751-73,786,279 , GRCh38.p12 chr2: 73,489,624-73,559,152	ALMS1
nsv6311601	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,746,892-73,800,561 , GRCh38.p12 chr2: 73,519,765-73,573,434	ALMS1
nsv7096677	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,746,892-73,777,574 , GRCh38.p12 chr2: 73,519,765-73,550,447	ALMS1
nsv5673628	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,716,751-73,747,153 , GRCh38.p12 chr2: 73,489,624-73,520,026	ALMS1
nsv5673550	copy number variation	2	nstd102	human	Pathogenic, Likely pathogenic	GRCh37 chr2: 73,777,384-73,800,561 , GRCh38.p12 chr2: 73,550,257-73,573,434	ALMS1
nsv5673465	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,746,892-73,762,086 , GRCh38.p12 chr2: 73,519,765-73,534,959	ALMS1
nsv7096910	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,651,548-73,659,429 , GRCh38.p12 chr2: 73,424,420-73,432,301	ALMS1
nsv6311430	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,716,751-73,718,635 , GRCh38.p12 chr2: 73,489,624-73,491,508	ALMS1
nsv7096914	copy number variation	2	nstd102	human	Pathogenic, Likely pathogenic	GRCh37 chr2: 73,799,379-73,800,561 , GRCh38.p12 chr2: 73,572,252-73,573,434	ALMS1
nsv6311146	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 73,452,180-73,452,588 , GRCh37 chr2: 73,679,307-73,679,715	ALMS1
nsv7096912	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,746,892-73,747,153 , GRCh38.p12 chr2: 73,519,765-73,520,026	ALMS1
nsv6311205	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 73,450,430-73,450,599 , GRCh37 chr2: 73,677,557-73,677,726	ALMS1
nsv5673713	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,659,316-73,659,429 , GRCh38.p12 chr2: 73,432,188-73,432,301	ALMS1
nsv6314587	insertion	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,799,754-73,799,754 , GRCh38 chr2: 73,572,627-73,572,627	ALMS1
nsv6314349	insertion	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,716,809-73,716,809 , GRCh38 chr2: 73,489,682-73,489,682	ALMS1
nsv5674288	insertion	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,680,306-73,680,306 , GRCh38 chr2: 73,453,179-73,453,179	ALMS1
nsv5673549	copy number variation	2	nstd102	human	Pathogenic, Likely pathogenic	GRCh37 chr2: 73,716,751-73,762,086 , GRCh38.p12 chr2: 73,489,624-73,534,959	ALMS1
nsv6315135	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 73,786,270-73,826,527 , GRCh38.p12 chr2: 73,559,143-73,599,400	ALMS1
nsv4681326	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 73,760,681-73,762,027 , GRCh38 chr2: 73,533,554-73,534,900	ALMS1

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 76

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 76

Page of 4

Number of Variants: 20

Page of 4

Supplemental Content

Find related data

Search details

Recent activity