"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 243073	NM_014874.4(MFN2):c.479T>G (p.Val160Gly)	MFN2 (V160G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 243074	NM_014874.4(MFN2):c.526G>A (p.Gly176Ser)	MFN2 (G176S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 243066	NM_014874.4(MFN2):c.730G>A (p.Val244Met)	MFN2 (V244M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GPathogenic
Select item 243057	NM_014874.4(MFN2):c.730G>T (p.Val244Leu)	MFN2 (V244L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GPathogenic
Select item 202171	NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)	MFN2 (S249F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GPathogenic/Likely pathogenic
Select item 243067	NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro)	MFN2 (R649P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely 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