ClinVar for MedGen (Select 1634481) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25824961.	NM_007208.4(MRPL3):c.793T>C (p.Tyr265His) GRCh37: Chr3:131188563 GRCh38: Chr3:131469719	MRPL3	Y265H	Combined oxidative phosphorylation defect type 9	Uncertain significance (Feb 17, 2023)	criteria provided, single submitter
Select item 10277332.	NM_007208.4(MRPL3):c.862T>C (p.Ser288Pro) GRCh37: Chr3:131186967 GRCh38: Chr3:131468123	MRPL3	S288P	not provided, Combined oxidative phosphorylation defect type 9	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6894113.	NM_007208.4(MRPL3):c.49del (p.Arg17fs) GRCh37: Chr3:131221617 GRCh38: Chr3:131502773	MRPL3	R17fs	Combined oxidative phosphorylation defect type 9	Pathogenic (Aug 26, 2019)	no assertion criteria provided
Select item 4410354.	NM_007208.4(MRPL3):c.884G>C (p.Cys295Ser) GRCh37: Chr3:131186945 GRCh38: Chr3:131468101	MRPL3	C295S	Combined oxidative phosphorylation defect type 9	not provided	no assertion provided
Select item 306435.	NM_007208.4(MRPL3):c.950C>G (p.Pro317Arg) GRCh37: Chr3:131181664 GRCh38: Chr3:131462820	MRPL3	P317R	not provided	Likely pathogenic (Dec 27, 2019)	criteria provided, single submitter

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