"GeneDx"[submitter] AND "LOC130004522"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 1289530	NC_000010.11:g.100186257C>G	ERLIN1, LOC130004522	Single nucleotide variant	not provided	GBenign
Select item 1279981	NC_000010.11:g.100186276G>A	ERLIN1, LOC130004522	Single nucleotide variant	not provided	GBenign

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