ClinVar for MedGen (Select 767452) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638210	NM_014672.4(PRORP):c.1197dup (p.Ser400fs)	PRORP, PRORP-PSMA6 (S28fs +3 more)	Duplication (frameshift variant)	Combined oxidative phosphorylation deficiency 54 +9 more	GPathogenic/Likely pathogenic
Select item 638209	NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln)	PRORP, PRORP-PSMA6 (R445Q +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 54 +9 more	GPathogenic/Likely pathogenic