"GeneDx"[submitter] AND "LOC130056095"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 386276	NM_194279.4(ISCA2):c.-6A>C	ISCA2, LOC130056095	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3376048	NC_000014.9:g.74493800T>A	ISCA2, LOC130056095 +1 more (L9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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