C0393807[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138220	NM_014874.4(MFN2):c.165C>T (p.Thr55=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +7 more	GBenign/Likely benign
Select item 873748	NM_014874.4(MFN2):c.271G>A (p.Val91Met)	MFN2 (V91M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +4 more	GUncertain significance
Select item 2281	NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)	MFN2 (R104W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more	GPathogenic
Select item 138210	NM_014874.4(MFN2):c.408A>T (p.Val136=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +7 more	GBenign/Likely benign
Select item 199133	NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)	MFN2 (G298R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +8 more	GBenign/Likely benign
Select item 138217	NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)	MFN2 (V705I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +7 more	GBenign/Likely benign
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
Select item 2269	NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)	MFN2 (W740S)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy with optic atrophy +7 more	GPathogenic/Likely pathogenic