2H-Isoindole-1-carboxylic acid - 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
nsv6309088	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 90,974,565-91,007,425 , GRCh38.p12 chr10: 89,214,808-89,247,668	LIPA
nsv7094700	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 8,839,838-8,870,367 , GRCh38.p12 chr16: 8,745,981-8,776,510	ABAT
nsv3888658	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 74,746,853-74,773,920 , GRCh38 chr16: 74,712,955-74,740,022	FA2H
nsv6634494	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 90,986,762-91,005,432 , GRCh38.p12 chr10: 89,227,005-89,245,675	LIPA
nsv7093696	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 6,404,342-6,413,015 , GRCh38.p12 chr11: 6,383,112-6,391,785	SMPD1
nsv6635975	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,082,407-78,090,766 , GRCh38.p12 chr17: 80,108,608-80,116,967	GAA
nsv5672957	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 80,108,677-80,116,950 , GRCh37 chr17: 78,082,476-78,090,749	GAA
nsv7094923	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,085,283-78,092,476 , GRCh38.p12 chr17: 80,111,484-80,118,677	GAA
nsv5673025	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 80,111,484-80,118,677 , GRCh37 chr17: 78,085,283-78,092,476	GAA
nsv6309089	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 90,982,258-90,988,165 , GRCh38.p12 chr10: 89,222,501-89,228,408	LIPA
nsv4578243	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 15,677,140-15,682,898 , GRCh38.p12 chrX: 15,659,017-15,664,775	CLTRN
nsv6312593	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 74,304,790-74,310,174 , GRCh38.p12 chr6: 73,595,067-73,600,451	SLC17A5
nsv4682950	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,082,476-78,087,185 , GRCh38.p12 chr17: 80,108,677-80,113,386	GAA
nsv6310200	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,082,486-78,087,175 , GRCh38.p12 chr17: 80,108,687-80,113,376	GAA
nsv4681544	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,083,734-78,087,175 , GRCh38.p12 chr17: 80,109,935-80,113,376	GAA
nsv4578594	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 80,104,729-80,107,784 , GRCh37 chr17: 78,078,528-78,081,583	GAA
nsv4451806	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr6: 73,641,681-73,644,613 , GRCh37 chr6: 74,351,404-74,354,336	SLC17A5
nsv5672695	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 91,005,423-91,007,415 , GRCh38.p12 chr10: 89,245,666-89,247,658	LIPA
nsv6310340	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,090,757-78,092,614 , GRCh38.p12 chr17: 80,116,958-80,118,815	GAA
nsv3887930	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 94,982,035-94,983,793 , GRCh38 chr1: 94,516,479-94,518,237	ABCD3

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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 110

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Number of Variants: 20

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