"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NDUFAF1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129690	NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly)	NDUFAF1 (A314G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 711134	NM_016013.4(NDUFAF1):c.926A>C (p.His309Pro)	NDUFAF1 (H309P)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 315875	NM_016013.4(NDUFAF1):c.909G>A (p.Val303=)	NDUFAF1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 211580	NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile)	NDUFAF1 (M236I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 3380259	NM_016013.4(NDUFAF1):c.617A>G (p.Asn206Ser)	NDUFAF1 (N206S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138455	NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met)	NDUFAF1 (I186M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 138454	NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys)	NDUFAF1 (E176K)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 214735	NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala)	NDUFAF1 (V123A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 129689	NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu)	NDUFAF1 (R31L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 129688	NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His)	NDUFAF1 (R9H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 138453	NM_016013.4(NDUFAF1):c.-6T>G	NDUFAF1	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity