"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065879	NM_001277062.2(MFF):c.-40-842dup	MFF	Duplication (splice donor variant +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	GLikely pathogenic
Select item 3065870	NM_001277062.2(MFF):c.-40-841T>G	MFF	Single nucleotide variant (splice donor variant +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	GLikely pathogenic