ClinVar for MedGen (Select 1634481) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341348	NM_007208.4(MRPL3):c.379T>C (p.Cys127Arg)	MRPL3 (C127R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 9	GUncertain significance
Select item 3067933	NM_007208.4(MRPL3):c.93-2A>C	MRPL3	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 9	GLikely pathogenic
Select item 2582496	NM_007208.4(MRPL3):c.793T>C (p.Tyr265His)	MRPL3 (Y265H)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 9	GUncertain significance
Select item 1027733	NM_007208.4(MRPL3):c.862T>C (p.Ser288Pro)	MRPL3 (S288P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 9 +1 more	GUncertain significance
Select item 689411	NM_007208.4(MRPL3):c.49del (p.Arg17fs)	LOC105374114, MRPL3 (R17fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 9	GPathogenic
Select item 441035	NM_007208.4(MRPL3):c.884G>C (p.Cys295Ser)	MRPL3 (C295S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 9	Gnot provided
Select item 30643	NM_007208.4(MRPL3):c.950C>G (p.Pro317Arg)	MRPL3 (P317R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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