abca3[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
nsv3906108	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 61,451-90,294,632 , GRCh38.p12 chr16: 11,451-90,228,224	ABCA3, CKLF, 1882 more genes
nsv3904593	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 69,193-90,274,381 , GRCh38.p12 chr16: 19,193-90,207,973	ABCA3, LOC100128079, 1879 more genes
nsv3901410	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 88,165-90,274,695 , GRCh38.p12 chr16: 38,165-90,208,287	ABCA3, LINC02175, 1877 more genes
nsv3909417	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 88,165-90,163,275 , GRCh38.p12 chr16: 38,165-90,096,867	ABCA3, PRSS53, 1868 more genes
nsv3892266	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr16: 85,881-90,155,062 , GRCh38.p12 chr16: 35,881-90,088,654	ABCA3, FTLP14, 1868 more genes
nsv1398297	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 102,839-28,327,676 , GRCh38.p12 chr16: 52,839-28,316,355	ABCA3, BMERB1, 701 more genes
nsv3903116	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 85,880-22,442,007 , GRCh38.p12 chr16: 35,880-22,430,686	ABCA3, NPIPA8, 616 more genes
nsv3900978	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 85,880-19,806,921 , GRCh38.p12 chr16: 35,880-19,795,599	ABCA3, LOC105371091, 543 more genes
nsv3915829	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr16: 656,663-15,744,462 , GRCh38 chr16: 666,662-15,743,104 , GRCh37 chr16: 716,662-15,836,961	ABCA3, RPL35AP34, 429 more genes
nsv3923267	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 93,732-13,420,663 , GRCh38 chr16: 43,732-13,326,806 , NCBI36 chr16: 33,732-13,328,164	ABCA3, METRN, 413 more genes
nsv3917929	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 96,766-11,619,372 , GRCh38 chr16: 46,766-11,525,516 , NCBI36 chr16: 36,766-11,526,873	ABCA3, LOC100130283, 386 more genes
nsv3913858	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 73,141-11,390,552 , GRCh38 chr16: 23,141-11,296,695 , NCBI36 chr16: 13,141-11,298,053	ABCA3, TPSP1, 382 more genes
nsv3904496	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 85,880-11,209,288 , GRCh38.p12 chr16: 35,880-11,115,431	ABCA3, HBA2, 372 more genes
nsv3896813	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 85,880-9,883,129 , GRCh38.p12 chr16: 35,880-9,789,272	ABCA3, HMOX2, 348 more genes
nsv3904669	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 78,801-9,169,448 , GRCh38.p12 chr16: 28,801-9,075,591	ABCA3, CARHSP1, 337 more genes
nsv6634427	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 111,043-6,627,459 , GRCh38.p12 chr16: 61,045-6,577,458	ABCA3, HBA1, 312 more genes
nsv6112797	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 84,485-5,251,013 , GRCh38.p12 chr16: 34,485-5,201,012	ABCA3, ANTKMT, 307 more genes
nsv4729241	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 85,880-5,249,457 , GRCh38.p12 chr16: 35,880-5,199,456	ABCA3, MTRNR2L4, 307 more genes
nsv3907093	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 97,133-5,122,974 , GRCh38.p12 chr16: 47,133-5,072,973	ABCA3, MIR6768, 303 more genes
nsv4349832	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 109,978-4,316,797 , GRCh38.p12 chr16: 59,980-4,266,796	ABCA3, LINC00235, 269 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

Search results

Items: 1 to 20 of 42

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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