"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NDUFAF6"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136608	NM_152416.4(NDUFAF6):c.51C>A (p.Ile17=)	LOC113788297, NDUFAF6	Single nucleotide variant (intron variant +3 more)	not specified +1 more	GBenign
Select item 214210	NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala)	LOC113788297, NDUFAF6 (G28A)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +4 more	GLikely benign
Select item 870771	NC_000008.11:g.95045545del	NDUFAF6	Deletion (genic downstream transcript variant)	not provided	GLikely pathogenic
Select item 136604	NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=)	NDUFAF6	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 17 +3 more	GBenign/Likely benign
Select item 136605	NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile)	NDUFAF6 (V280I +4 more)	Single nucleotide variant (missense variant +2 more)	Fanconi renotubular syndrome 5 +3 more	GBenign/Likely benign
Select item 2658699	NM_152416.4(NDUFAF6):c.891T>C (p.Phe297=)	NDUFAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

ClinVar