asph[All Fields] AND 1[has_clinical] - 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
nsv4455457	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 62,449,005-62,474,645 , GRCh38.p12 chr8: 61,536,446-61,562,086	ASPH
nsv7097801	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr8: 62,460,610-62,465,699 , GRCh38.p12 chr8: 61,548,051-61,553,140	ASPH
nsv3906493	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr8: 62,459,659-62,474,645 , GRCh38.p12 chr8: 61,547,100-61,562,086	ASPH
nsv4676001	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr8: 62,350,388-62,426,150 , GRCh38.p12 chr8: 61,437,829-61,513,591	ASPH, CLVS1
nsv3905625	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr8: 62,172,667-62,616,116 , GRCh38.p12 chr8: 61,260,108-61,703,557	ASPH, LOC105375870, 3 more genes
nsv3899320	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr8: 62,207,084-62,604,359 , GRCh38.p12 chr8: 61,294,525-61,691,800	ASPH, LOC105375870, 3 more genes
nsv6636395	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr8: 62,220,903-62,536,203 , GRCh38.p12 chr8: 61,308,344-61,623,644	ASPH, LOC105375870, 2 more genes
nsv3911944	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 54,237,949-62,775,577 , GRCh38 chr8: 53,325,389-61,863,018 , NCBI36 chr8: 54,400,502-62,938,131	ASPH, SOX17, 119 more genes
nsv3923110	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 57,838,371-62,604,418 , NCBI36 chr8: 58,000,925-62,766,972 , GRCh38 chr8: 56,925,812-61,691,859	ASPH, LOC105375855, 50 more genes
nsv3914936	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 61,891,506-66,191,851 , GRCh37 chr8: 61,728,952-66,029,297 , GRCh38 chr8: 60,816,393-65,117,062	ASPH, BHLHE22, 48 more genes
nsv7148134	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 61,121,294-63,502,403 , GRCh38.p12 chr8: 60,208,735-62,589,844	ASPH, LOC112268028, 23 more genes
nsv3915173	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 3,938-146,274,826 , GRCh37.p13 chr8: 13,938-146,304,022 , GRCh38.p12 chr8: 63,938-145,078,636	ASPH, RN7SL474P, 2109 more genes
nsv3901821	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 10,213-146,293,414 , GRCh38.p12 chr8: 60,213-145,068,028	ASPH, TBC1D31, 2109 more genes
nsv4349554	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-146,295,771 , GRCh38.p12 chr8: 208,048-145,070,385	ASPH, LOC101929488, 2105 more genes
nsv3916777	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-146,295,771 , GRCh38 chr8: 208,048-145,070,385 , NCBI36 chr8: 148,048-146,266,575	ASPH, RPL5P22, 2105 more genes
nsv3898123	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr8: 158,049-146,295,771 , GRCh38.p12 chr8: 208,049-145,070,385	ASPH, SPAG1, 2105 more genes
nsv3908608	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 164,984-146,293,414 , GRCh38.p12 chr8: 214,984-145,068,028	ASPH, LINC01617, 2105 more genes
nsv3893757	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,991-146,280,828 , GRCh38.p12 chr8: 208,991-145,055,442	ASPH, LOC105375890, 2105 more genes
nsv3923310	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 166,452-146,264,902 , GRCh38 chr8: 226,452-145,068,712 , GRCh37 chr8: 176,452-146,294,098	ASPH, LOC112268023, 2105 more genes
nsv3914307	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 191,605-146,280,167 , GRCh38 chr8: 241,605-145,054,781 , NCBI36 chr8: 181,605-146,250,971	ASPH, LOC107986897, 2104 more genes

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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

Search results

Items: 1 to 20 of 37

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Number of Variants: 20

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