pomt1[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
nsv5674266	insertion	1	nstd102	human	Pathogenic	GRCh37 chr9: 134,381,522-134,381,522 , GRCh38 chr9: 131,506,135-131,506,135	POMT1
nsv7098429	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr9: 134,395,447-134,395,600 , GRCh38.p12 chr9: 131,520,060-131,520,213	POMT1
nsv6312848	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr9: 134,389,752-134,390,863 , GRCh38.p12 chr9: 131,514,365-131,515,476	POMT1, LOC105376301
nsv6636073	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr9: 134,388,719-134,399,194 , GRCh38.p12 chr9: 131,513,332-131,523,807	POMT1, UCK1, 1 more genes
nsv3911736	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 132,712,094-135,217,877 , NCBI36 chr9: 131,751,915-134,207,698 , GRCh38 chr9: 129,949,815-132,342,490	POMT1, HMCN2, 40 more genes
nsv3912247	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr9: 2,934-140,273,252 , GRCh37.p13 chr9: 12,934-141,153,431 , GRCh38.p12 chr9: 12,934-138,262,981	POMT1, ALOX15P2, 2184 more genes
nsv3890420	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 10,590-141,122,247 , GRCh38.p12 chr9: 10,590-138,231,797	POMT1, TBC1D13, 2183 more genes
nsv3905118	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 10,590-141,114,095 , GRCh38.p12 chr9: 10,590-138,223,645	POMT1, MIR219A2, 2183 more genes
nsv3891842	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 10,590-141,107,672 , GRCh38.p12 chr9: 10,590-138,217,222	POMT1, OR13C1P, 2183 more genes
nsv3895453	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 46,587-141,066,491 , GRCh38.p12 chr9: 46,587-138,172,039	POMT1, RPL19P15, 2176 more genes
nsv3900967	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 163,131-141,122,114 , GRCh38.p12 chr9: 163,131-138,231,664	POMT1, BANCR, 2173 more genes
nsv3907479	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 62,525-141,006,407 , GRCh38.p12 chr9: 62,525-138,111,955	POMT1, OR2AM1P, 2174 more genes
nsv3922684	copy number variation	2	nstd102	human	Pathogenic	NCBI36 chr9: 194,193-140,193,718 , GRCh38 chr9: 193,412-138,179,445 , GRCh37 chr9: 204,193-141,073,897	POMT1, TDRD7, 2170 more genes
nsv3919257	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 204,193-141,073,897 , GRCh38 chr9: 204,193-138,179,445 , NCBI36 chr9: 194,193-140,193,718	POMT1, LOC107987031, 2169 more genes
nsv3915973	copy number variation	2	nstd102	human	Pathogenic	GRCh38 chr9: 193,412-138,159,073 , GRCh37 chr9: 68,420,641-141,053,525 , NCBI36 chr9: 67,910,461-140,173,346	POMT1, CTNNAL1, 2170 more genes
nsv3911025	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr9: 193,412-138,124,524 , NCBI36 chr9: 194,090-140,138,797 , GRCh37 chr9: 204,090-141,018,976	POMT1, RORB-AS1, 2168 more genes
nsv3921598	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr9: 203,861-138,125,937 , NCBI36 chr9: 193,861-140,140,210 , GRCh37 chr9: 203,861-141,020,389	POMT1, PGAP4, 2167 more genes
nsv4457273	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 203,861-141,020,388 , GRCh38.p12 chr9: 203,861-138,125,936	POMT1, CDRT15P14, 2167 more genes
nsv3920713	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr9: 193,862-140,140,210 , GRCh38 chr9: 203,862-138,125,937 , GRCh37 chr9: 203,862-141,020,389	POMT1, ABHD17B, 2167 more genes
nsv3892307	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 203,862-141,020,389 , GRCh38.p12 chr9: 203,862-138,125,937	POMT1, PIGO, 2167 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 44

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 44

Page of 3

Number of Variants: 20

Page of 3

Supplemental Content

Find related data

Search details

Recent activity