"Ambry Genetics"[submitter] AND "LOC130064279"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 888667	NM_001042631.3(SDHAF1):c.46C>T (p.Arg16Cys)	LOC130064279, SDHAF1 (R16C)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2606263	NM_001042631.3(SDHAF1):c.49G>C (p.Asp17His)	LOC130064279, SDHAF1 (D17H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance