C4721887[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585245	NM_014874.4(MFN2):c.281G>T (p.Arg94Leu)	MFN2 (R94L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 2268	NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	MFN2 (R94Q)	Single nucleotide variant (missense variant)	Neuropathy, hereditary motor and sensory, type 6A +5 more	GPathogenic
Select item 214652	NM_014874.4(MFN2):c.314C>T (p.Thr105Met)	MFN2 (T105M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GPathogenic/Likely pathogenic
Select item 1042450	NM_014874.4(MFN2):c.321T>G (p.Asn107Lys)	MFN2 (N107K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GUncertain significance
Select item 587402	NM_014874.4(MFN2):c.334G>A (p.Val112Met)	MFN2 (V112M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +3 more	GPathogenic/Likely pathogenic
Select item 653774	NM_014874.4(MFN2):c.445G>A (p.Glu149Lys)	MFN2 (E149K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GUncertain significance
Select item 217164	NM_014874.4(MFN2):c.494A>G (p.His165Arg)	MFN2 (H165R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary motor and sensory, type 6A +3 more	GPathogenic
Select item 2585501	NM_014874.4(MFN2):c.2096T>C (p.Leu699Pro)	MFN2 (L699P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GUncertain significance