ClinVar for MedGen (Select 1799165) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032416	NM_138395.4(MARS2):c.494A>G (p.Tyr165Cys)	MARS2 (Y165C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 25 +1 more	GUncertain significance
Select item 1032415	NM_138395.4(MARS2):c.1032_1033del (p.Cys344fs)	MARS2 (C344fs)	Microsatellite (frameshift variant)	Combined oxidative phosphorylation defect type 25	GPathogenic
Select item 1027711	NM_138395.4(MARS2):c.928A>G (p.Lys310Glu)	MARS2 (K310E)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 25	GUncertain significance
Select item 193028	NM_138395.4(MARS2):c.424C>T (p.Arg142Trp)	MARS2 (R142W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 193027	NM_138395.4(MARS2):c.550C>T (p.Gln184Ter)	MARS2 (Q184*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 25	GPathogenic
Select item 138168	NM_138395.4(MARS2):c.1580T>C (p.Val527Ala)	MARS2 (V527A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign

ClinVar