ClinVar for MedGen (Select 1711127) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1292552	NM_152416.4(NDUFAF6):c.*16T>C	NDUFAF6	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 17 +2 more	GBenign
Select item 917900	NM_152416.4(NDUFAF6):c.298-768T>C	NDUFAF6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 559318	NM_152416.4(NDUFAF6):c.420+15dup	NDUFAF6	Duplication (intron variant)	not provided +2 more	GBenign
Select item 517080	NM_152416.4(NDUFAF6):c.421-13_421-12del	NDUFAF6	Microsatellite (intron variant)	Fanconi renotubular syndrome 5 +2 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)	not provided +4 more	GLikely 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 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

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