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Links from MedGen

Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFN2
Copy number loss
Charcot-Marie-Tooth disease type 2A2
+2 more
Gnot provided
MTRFR
(L6fs)
Deletion
(frameshift variant)
Hereditary motor and sensory neuropathy with optic atrophy
GLikely pathogenic
MFN2
(S593T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
LOC129929423, MFN2
Single nucleotide variant
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(synonymous variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
LOC129929423, MFN2
Single nucleotide variant
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(synonymous variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
LOC129929426, MFN2
Single nucleotide variant
(intron variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GConflicting classifications of pathogenicity
MFN2
(H544R)
Single nucleotide variant
(missense variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(intron variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GConflicting classifications of pathogenicity
MFN2
(V91M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+4 more
GUncertain significance
MFN2
(V69I)
Single nucleotide variant
(missense variant)
Hereditary motor and sensory neuropathy with optic atrophy
+2 more
GConflicting classifications of pathogenicity
LOC129929423, MFN2
Single nucleotide variant
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
(L504P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MFN2
(V620I)
Single nucleotide variant
(missense variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
MFN2
(T614fs)
Duplication
(frameshift variant)
Hereditary motor and sensory neuropathy with optic atrophy
GLikely pathogenic
MFN2
(F240L)
Single nucleotide variant
(missense variant)
Hereditary motor and sensory neuropathy with optic atrophy
GLikely pathogenic
MFN2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+4 more
GConflicting classifications of pathogenicity
MFN2
(R418*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 2
+2 more
GPathogenic/Likely pathogenic
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MFN2
Single nucleotide variant
(synonymous variant)
Hereditary motor and sensory neuropathy with optic atrophy
+2 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(synonymous variant)
Hereditary motor and sensory neuropathy with optic atrophy
+2 more
GLikely benign
LOC129929426, MFN2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(synonymous variant)
Hereditary motor and sensory neuropathy with optic atrophy
+3 more
GConflicting classifications of pathogenicity
MFN2
Single nucleotide variant
(synonymous variant)
Hereditary motor and sensory neuropathy with optic atrophy
+6 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(intron variant)
MFN2-related disorder
+3 more
GConflicting classifications of pathogenicity
MFN2
(Q51H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 2
+2 more
GBenign/Likely benign
MFN2, PLOD1
Single nucleotide variant
Hereditary motor and sensory neuropathy with optic atrophy
+4 more
GBenign
MFN2
Single nucleotide variant
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
not provided
+3 more
GBenign/Likely benign
MFN2
Single nucleotide variant
Hereditary motor and sensory neuropathy with optic atrophy
+3 more
GBenign/Likely benign
LOC129929423, MFN2
Single nucleotide variant
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
LOC129929423, MFN2
Single nucleotide variant
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
LOC129929423, MFN2
+1 more
Single nucleotide variant
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+4 more
GBenign
MFN2
(T60M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GConflicting classifications of pathogenicity
MFN2
(R649H)
Single nucleotide variant
(missense variant)
Hereditary motor and sensory neuropathy with optic atrophy
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MFN2
(M376V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
MFN2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+4 more
GBenign/Likely benign
MFN2
(H20Y)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MFN2
(A716T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GConflicting classifications of pathogenicity
MFN2
(R663C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+4 more
GConflicting classifications of pathogenicity
MFN2
(R300C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GConflicting classifications of pathogenicity
MFN2
(C281S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
+6 more
GConflicting classifications of pathogenicity
MFN2
Single nucleotide variant
(synonymous variant)
Hereditary motor and sensory neuropathy with optic atrophy
+4 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+4 more
GBenign
MFN2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+5 more
GBenign/Likely benign
MFN2
(G298R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
+8 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(synonymous variant)
Hereditary motor and sensory neuropathy with optic atrophy
+5 more
GConflicting classifications of pathogenicity
MFN2
Single nucleotide variant
(synonymous variant)
Hereditary motor and sensory neuropathy with optic atrophy
+5 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+2 more
GBenign
MFN2
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
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