"NDUFA9-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214721	NM_005002.5(NDUFA9):c.224G>A (p.Arg75His)	NDUFA9 (R75H)	Single nucleotide variant (missense variant)	NDUFA9-related disorder +1 more	GBenign/Likely benign
Select item 138451	NM_005002.5(NDUFA9):c.330G>T (p.Ala110=)	NDUFA9	Single nucleotide variant (synonymous variant)	NDUFA9-related disorder +2 more	GBenign
Select item 2629555	NM_005002.5(NDUFA9):c.508C>A (p.Leu170Met)	NDUFA9 (L170M)	Single nucleotide variant (missense variant)	NDUFA9-related disorder	GUncertain significance
Select item 512313	NM_005002.5(NDUFA9):c.553-9A>G	NDUFA9	Single nucleotide variant (intron variant)	NDUFA9-related disorder +2 more	GLikely benign
Select item 739092	NM_005002.5(NDUFA9):c.809G>A (p.Arg270Gln)	NDUFA9 (R270Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129687	NM_005002.5(NDUFA9):c.881C>T (p.Pro294Leu)	NDUFA9 (P294L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 214715	NM_005002.5(NDUFA9):c.942A>G (p.Ile314Met)	NDUFA9 (I314M)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26 +3 more	GConflicting classifications of pathogenicity
Select item 378244	NM_005002.5(NDUFA9):c.1104T>C (p.Asp368=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

ClinVar