"SIB Swiss Institute of Bioinformatics"[submitter] AND "EME2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438635	NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	MRPS34, EME2 (Q32*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 32 +1 more	GPathogenic/Likely pathogenic
Select item 430585	NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)	LOC130058184, MRPS34 +1 more (E13K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 32	GLikely pathogenic