ift52[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 15

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Number of Variants: 15

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3895985	copy number variation	1	nstd102	human	Benign	GRCh37 chr20: 42,264,653-42,275,499 , GRCh38.p12 chr20: 43,636,013-43,646,859	IFT52
nsv3898207	copy number variation	1	nstd102	human	Benign	GRCh37 chr20: 42,264,653-42,273,800 , GRCh38.p12 chr20: 43,636,013-43,645,160	IFT52
nsv3905773	copy number variation	1	nstd102	human	Benign	GRCh37 chr20: 42,264,653-42,273,045 , GRCh38.p12 chr20: 43,636,013-43,644,405	IFT52
nsv7093141	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr20: 42,247,452-42,247,589 , GRCh38 chr20: 43,618,812-43,618,949	IFT52
nsv3912723	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr20: 30,288,202-45,731,170 , GRCh37.p13 chr20: 30,824,541-46,297,763 , GRCh38.p12 chr20: 32,236,738-47,669,019	IFT52, LOC107985448, 370 more genes
nsv3910049	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr20: 33,289,165-45,693,969 , GRCh37 chr20: 33,825,749-46,260,562 , GRCh38 chr20: 35,237,946-47,631,818	IFT52, NDUFB4P10, 291 more genes
nsv7095898	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 42,223,339-44,638,757 , GRCh38.p12 chr20: 43,594,699-46,010,118	IFT52, ADA, 99 more genes
nsv3892750	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,961,294 , GRCh38.p12 chr20: 82,603-64,329,941	IFT52, TGIF2-RAB5IF, 1314 more genes
nsv3905072	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,948,788 , GRCh38.p12 chr20: 82,603-64,317,435	IFT52, LRRN4, 1313 more genes
nsv3895314	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr20: 61,569-62,915,555 , GRCh38.p12 chr20: 80,928-64,284,202	IFT52, PKIG, 1311 more genes
nsv3896520	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 63,244-62,912,463 , GRCh38.p12 chr20: 82,603-64,281,110	IFT52, COMMD7, 1311 more genes
nsv3920218	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118	IFT52, MIR3646, 1310 more genes
nsv4674805	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr20: 34,980,430-46,806,549 , GRCh38.p12 chr20: 36,352,027-48,177,806	IFT52, ADA, 266 more genes
nsv4457373	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr20: 42,087,848-42,275,167 , GRCh38.p12 chr20: 43,459,208-43,646,527	IFT52, SRSF6, 4 more genes
nsv3910818	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr20: 25,616,026-62,435,964 , GRCh37.p13 chr20: 25,668,026-62,965,520 , GRCh38.p12 chr20: 25,687,390-64,334,167	IFT52, RNA5SP481, 855 more genes

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ift52[All Fields] AND 1[has_clinical] (16)
dbVar
Coryphopterus kuna[orgn] (21)
Nucleotide
RecName: Full=ATP-binding cassette sub-family G member 1; AltName: Full=ATP-bind...
RecName: Full=ATP-binding cassette sub-family G member 1; AltName: Full=ATP-binding cassette transporter 8; AltName: Full=White protein homolog
gi|17433715|sp|P45844.3|ABCG1_HUMAN

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