"GeneDx"[submitter] AND "SLC25A47"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 1271753	NM_207117.4(SLC25A47):c.404G>T (p.Arg135Leu)	SLC25A47 (R135L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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