ClinVar for MedGen (Select 7349) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522942	NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)	MFN2 (R519C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 2280	NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	MFN2 (R707W)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic