"PreventionGenetics, part of Exact Sciences"[submitter] AND "NDUFAF6"[ - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045807	NM_152416.4(NDUFAF6):c.21C>T (p.Gly7=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	NDUFAF6-related disorder	GLikely benign
Select item 214210	NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala)	LOC113788297, NDUFAF6 (G28A)	Single nucleotide variant (5 prime UTR variant +3 more)	Fanconi renotubular syndrome 5 +4 more	GLikely benign
Select item 3032010	NM_152416.4(NDUFAF6):c.327T>C (p.Ile109=)	NDUFAF6	Single nucleotide variant (synonymous variant +2 more)	NDUFAF6-related disorder	GLikely benign
Select item 720472	NM_152416.4(NDUFAF6):c.390A>G (p.Pro130=)	NDUFAF6	Single nucleotide variant (synonymous variant +2 more)	NDUFAF6-related disorder +1 more	GLikely benign
Select item 1203946	NM_152416.4(NDUFAF6):c.641T>C (p.Val214Ala)	NDUFAF6 (V103A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 136603	NM_152416.4(NDUFAF6):c.642C>T (p.Val214=)	NDUFAF6	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 211581	NM_152416.4(NDUFAF6):c.738T>C (p.Phe246=)	NDUFAF6	Single nucleotide variant (synonymous variant +1 more)	NDUFAF6-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3053519	NM_152416.4(NDUFAF6):c.*6T>C	NDUFAF6	Single nucleotide variant (3 prime UTR variant +2 more)	NDUFAF6-related disorder	GLikely benign