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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFN2
(R707Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
+4 more
GUncertain significance
MFN2
(R155del)
Microsatellite
(inframe_deletion +1 more)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
MFN2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
GPathogenic
MFN2
(Y462C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GUncertain significance
MFN2
(R418Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GUncertain significance
MFN2
Copy number loss
Charcot-Marie-Tooth disease type 2A2
+2 more
Gnot provided
MFN2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2A2
+4 more
GUncertain significance
MFN2
(V91M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+4 more
GUncertain significance
MFN2
(K655E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
GUncertain significance
MFN2
(S431L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
(G108R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
+1 more
GConflicting classifications of pathogenicity
MFN2
(Q754fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 2
+2 more
GConflicting classifications of pathogenicity
MFN2
(V112M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
MFN2
(V91L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
+1 more
GConflicting classifications of pathogenicity
MFN2
(E52K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
GLikely pathogenic
MFN2
(R135Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MFN2
(A164V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
GUncertain significance
MFN2
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
+1 more
GLikely pathogenic
MFN2
(L504P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MFN2
(R519C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
MFN2
(Q367H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GConflicting classifications of pathogenicity
MFN2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GBenign/Likely benign
MFN2
(G176S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
MFN2
(C281S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
+6 more
GConflicting classifications of pathogenicity
MFN2
(G298R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+8 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign/Likely benign
MFN2
(V705I)
Single nucleotide variant
(missense variant)
not provided
+7 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
MFN2
(T362M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic/Likely pathogenic
MFN2
Deletion
LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH AXONAL PERIPHERAL NEUROPATHY
+1 more
GPathogenic
MFN2
(F216S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MFN2
(K38del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
MFN2
(R104W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GPathogenic
MFN2
(R707W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+8 more
GPathogenic/Likely pathogenic
MFN2
(R94W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+21 more
GPathogenic
MFN2
(W740S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
+7 more
GPathogenic/Likely pathogenic
MFN2
(R94Q)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary motor and sensory, type 6A
+5 more
GPathogenic
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