"Baylor Genetics"[submitter] AND "NDUFAF6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033149	NM_152416.4(NDUFAF6):c.8C>G (p.Ala3Gly)	LOC113788297, NDUFAF6 (A3G)	Single nucleotide variant (5 prime UTR variant +3 more)	Leigh syndrome	GUncertain significance
Select item 1034316	NM_152416.4(NDUFAF6):c.92C>G (p.Ala31Gly)	LOC113788297, NDUFAF6 (A31G)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 559316	NM_152416.4(NDUFAF6):c.116C>T (p.Pro39Leu)	LOC113788297, NDUFAF6 (P39L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 214212	NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)	NDUFAF6 (I124T +3 more)	Single nucleotide variant (missense variant +2 more)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1029199	NM_152416.4(NDUFAF6):c.420+1_420+2dup	NDUFAF6	Duplication (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 17	GLikely pathogenic
Select item 284262	NM_152416.4(NDUFAF6):c.715-3C>A	NDUFAF6	Single nucleotide variant (intron variant)	Leigh syndrome +3 more	GUncertain significance
Select item 449591	NM_152416.4(NDUFAF6):c.773T>C (p.Val258Ala)	NDUFAF6 (V258A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

ClinVar