ClinVar for MedGen (Select 1682102) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363127	NM_022100.3(MRPS14):c.205-21dup	MRPS14	Duplication (intron variant)	Combined oxidative phosphorylation deficiency 38	GUncertain significance
Select item 625168	NM_022100.3(MRPS14):c.322C>T (p.Arg108Cys)	MRPS14 (R108C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic