ClinVar for MedGen (Select 1648370) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237476	NM_002488.5(NDUFA2):c.209-39G>A	NDUFA2, TMCO6 (V73M)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 13	GUncertain significance
Select item 2434083	NM_002488.5(NDUFA2):c.199G>T (p.Ala67Ser)	NDUFA2, TMCO6 (A67S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 13	GUncertain significance
Select item 978071	NM_002488.5(NDUFA2):c.170A>C (p.Glu57Ala)	NDUFA2, TMCO6 (E57A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 13	GPathogenic
Select item 214712	NM_002488.5(NDUFA2):c.225del (p.Asn76fs)	NDUFA2, TMCO6 (N76fs)	Deletion (3 prime UTR variant +2 more)	Cystic Leukoencephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 214711	NM_002488.5(NDUFA2):c.134A>C (p.Lys45Thr)	NDUFA2, TMCO6 (K45T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cystic Leukoencephalopathy	GPathogenic
Select item 7515	NM_002488.5(NDUFA2):c.208+5G>A	TMCO6, NDUFA2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 13	GPathogenic

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