C4693466[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417680	NM_017646.6(TRIT1):c.1256A>C (p.His419Pro)	TRIT1 (H419P +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 35	GUncertain significance
Select item 417682	NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter)	TRIT1 (R402* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 492943	NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln)	TRIT1 (R323Q +1 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 35 +1 more	GPathogenic/Likely pathogenic
Select item 417683	NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu)	TRIT1 (K286E +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 35	GUncertain significance
Select item 417681	NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser)	TRIT1 (I283S +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 35 +1 more	GConflicting classifications of pathogenicity
Select item 417684	NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)	MYCL-AS1, TRIT1 (R8*)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation deficiency 35 +2 more	GPathogenic/Likely pathogenic

ClinVar