"3billion"[submitter] AND "GFM1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444405	NM_024996.7(GFM1):c.679G>A (p.Gly227Arg)	GFM1 (G152R +2 more)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GUncertain significance
Select item 802018	NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)	GFM1 (R419W +7 more)	Single nucleotide variant (missense variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GConflicting classifications of pathogenicity

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