"GeneDx"[submitter] AND "LOC130002275"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 364481	NM_005502.3(ABCA1):c.-327C>T	LOC105376196, LOC130002275 +1 more	Single nucleotide variant	Familial High Density Lipoprotein Deficiency +2 more	GBenign
Select item 369619	NM_005502.3(ABCA1):c.-412C>G	ABCA1, LOC105376196 +1 more	Single nucleotide variant	Familial High Density Lipoprotein Deficiency +2 more	GBenign

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