"Clinical Genetics, Academic Medical Center"[submitter] AND "MFN2"[gen - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292370	NM_014874.4(MFN2):c.-4-13G>T	MFN2	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy with optic atrophy +3 more	GBenign/Likely benign
Select item 138219	NM_014874.4(MFN2):c.150C>A (p.Ile50=)	MFN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
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 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 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 378134	NM_014874.4(MFN2):c.663T>C (p.Asp221=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +3 more	GBenign/Likely benign
Select item 214653	NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)	MFN2 (R250Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 390686	NM_014874.4(MFN2):c.870C>T (p.Gly290=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GLikely benign
Select item 292373	NM_014874.4(MFN2):c.891C>T (p.Ala297=)	MFN2	Single nucleotide variant (synonymous variant)	MFN2-related disorder +6 more	GBenign/Likely benign
Select item 199133	NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)	MFN2 (G298R)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 194409	NM_014874.4(MFN2):c.1452G>A (p.Thr484=)	MFN2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 215515	NM_014874.4(MFN2):c.1495+9C>T	MFN2	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy with optic atrophy +4 more	GBenign/Likely benign
Select item 138216	NM_014874.4(MFN2):c.1641C>T (p.Leu547=)	LOC129929426, MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 700594	NM_014874.4(MFN2):c.1717-9_1717-6del	MFN2	Microsatellite (intron variant)	MFN2-related disorder +1 more	GLikely benign
Select item 476767	NM_014874.4(MFN2):c.1779G>A (p.Ser593=)	MFN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 214636	NM_014874.4(MFN2):c.1827C>T (p.Ser609=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 138217	NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)	MFN2 (V705I)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 637433	NM_014874.4(MFN2):c.2258dup (p.Gln754fs)	MFN2 (Q754fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity