C0393807[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2281	NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)	MFN2 (R104W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GPathogenic
Select item 30738	NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)	MFN2 (T362M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 930428	NM_014874.4(MFN2):c.1777T>A (p.Ser593Thr)	MFN2 (S593T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 543176	NM_014874.4(MFN2):c.1858G>A (p.Val620Ile)	MFN2 (V620I)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance
Select item 240945	NM_014874.4(MFN2):c.1946G>A (p.Arg649His)	MFN2 (R649H)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy with optic atrophy +1 more	GUncertain significance

ClinVar