"GeneDx"[submitter] AND "LOC130009616"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 1291267	NC_000013.11:g.40789301G>A	LOC130009616, SLC25A15	Single nucleotide variant	not provided	GBenign
Select item 312168	NM_014252.3(SLC25A15):c.-274T>C	LOC130009616, SLC25A15	Single nucleotide variant	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GBenign
Select item 312169	NM_014252.3(SLC25A15):c.-273C>G	LOC130009616, SLC25A15	Single nucleotide variant	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GConflicting classifications of pathogenicity
Select item 312170	NM_014252.3(SLC25A15):c.-259G>C	LOC130009616, SLC25A15	Single nucleotide variant	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GBenign/Likely benign

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