"GeneDx"[submitter] AND "LOC129995673"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 676278	NM_020408.6(LYRM4):c.-170C>T	FARS2, LOC129995673 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 676277	NM_020408.5(LYRM4):c.-297G>A	LYRM4, FARS2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

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