dbVar for OMIM (Select 109400) - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5674244	insertion	1	nstd102	human	Pathogenic	GRCh37 chr9: 98,244,306-98,244,306 , GRCh38 chr9: 95,482,024-95,482,024	PTCH1
nsv5674178	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 98,204,264-98,271,831 , GRCh38.p12 chr9: 95,441,982-95,509,549	LOC100507346, PTCH1
nsv5673897	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 98,229,392-98,232,219 , GRCh38.p12 chr9: 95,467,110-95,469,937	PTCH1, LOC100507346
nsv5673832	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 98,247,957-98,248,166 , GRCh38.p12 chr9: 95,485,675-95,485,884	PTCH1
nsv5672685	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 104,352,329-104,352,491 , GRCh38.p12 chr10: 102,592,572-102,592,734	SUFU
nsv5672605	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 104,352,329-104,353,832 , GRCh38.p12 chr10: 102,592,572-102,594,075	SUFU
nsv5564503	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr9: 98,226,337-98,248,166 , GRCh38.p12 chr9: 95,464,055-95,485,884	LOC100507346, PTCH1
nsv5380786	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 104,386,922-104,392,580 , GRCh38.p12 chr10: 102,627,165-102,632,823	SUFU
nsv4683766	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 45,288,077-45,298,023 , GRCh38.p12 chr1: 44,822,405-44,832,351	LOC107984952, PTCH2
nsv4683381	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 45,288,077-45,289,067 , GRCh38.p12 chr1: 44,822,405-44,823,395	PTCH2, LOC107984952
nsv4682878	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr9: 98,209,194-98,270,643 , GRCh38.p12 chr9: 95,446,912-95,508,361	LOC100507346, PTCH1
nsv4681360	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 98,211,341-98,212,232 , GRCh38.p12 chr9: 95,449,059-95,449,950	PTCH1
nsv4681323	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 98,209,194-98,279,100 , GRCh38.p12 chr9: 95,446,912-95,516,818	LOC100507346, PTCH1
nsv4681259	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr9: 98,218,548-98,222,075 , GRCh38.p12 chr9: 95,456,266-95,459,793	PTCH1
nsv4578585	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr9: 98,240,423-98,242,924 , GRCh38 chr9: 95,478,141-95,480,642	PTCH1
nsv4454005	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr10: 102,504,143-102,550,116 , GRCh37 chr10: 104,263,900-104,309,873	SUFU
nsv4452213	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 104,309,717-104,309,873 , GRCh38 chr10: 102,549,960-102,550,116	SUFU
nsv4450326	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr9: 95,101,697-95,508,371 , GRCh37 chr9: 97,863,979-98,270,653	RNA5SP288, FANCC, 9 more genes
nsv3889830	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr9: 95,467,116-95,469,931 , GRCh37 chr9: 98,229,398-98,232,213	PTCH1, LOC100507346
nsv3885773	copy number variation	2	nstd102	human	Pathogenic	GRCh38 chr9: 95,101,700-95,508,367 , GRCh37 chr9: 97,863,982-98,270,649	FANCC, RNA5SP288, 9 more genes

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Number of Variants: 20

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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

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Items: 1 to 20 of 27

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Number of Variants: 20

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