ClinVar for MedGen (Select 816385) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10281651.	NM_020408.6(LYRM4):c.172A>G (p.Lys58Glu) GRCh37: Chr6:5216886 GRCh38: Chr6:5216653	LYRM4, LYRM4-AS1	K58E	Combined oxidative phosphorylation deficiency 19	Uncertain significance (Jun 19, 2019)	criteria provided, single submitter
Select item 5479012.	NM_020408.6(LYRM4):c.7G>A (p.Ala3Thr) GRCh37: Chr6:5260960 GRCh38: Chr6:5260727	FARS2, LOC129995672, LYRM4	A3T	Combined oxidative phosphorylation deficiency 19	Uncertain significance (Dec 9, 2016)	criteria provided, single submitter
Select item 3800353.	NM_020408.6(LYRM4):c.31T>G (p.Ser11Ala) GRCh37: Chr6:5260936 GRCh38: Chr6:5260703	FARS2, LOC129995672, LYRM4	S11A	not provided, Combined oxidative phosphorylation deficiency 19, not specified	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1024504.	NM_020408.6(LYRM4):c.203G>T (p.Arg68Leu) GRCh37: Chr6:5216855 GRCh38: Chr6:5216622	LYRM4, LYRM4-AS1	R68L	Combined oxidative phosphorylation deficiency 19	Pathogenic (Nov 15, 2013)	no assertion criteria provided

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