ClinVar for MedGen (Select 3093) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17463	NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	COL7A1 (R2069C)	Single nucleotide variant (missense variant)	Decreased body weight +23 more	GPathogenic/Likely pathogenic
Select item 17462	NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)	COL7A1 (R236*)	Single nucleotide variant (nonsense)	not provided +15 more	GPathogenic
Select item 2276	NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	MFN2 (R94W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +19 more	GPathogenic

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