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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GFM1
(G152R +2 more)
Single nucleotide variant
(missense variant +2 more)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
GUncertain significance
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