U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFN2
(E539K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+1 more
GUncertain significance
MFN2
(Y752N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GUncertain significance
MFN2
(R275P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GUncertain significance
MFN2
(L699P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GUncertain significance
MFN2
(R94L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
ATP1A1, ATP1A1-AS1
(D570F +1 more)
Indel
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GUncertain significance
MFN2
(H242Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
ATP1A1, ATP1A1-AS1
(A566T +1 more)
Single nucleotide variant
(missense variant)
Charcot-marie-tooth disease, axonal, type 2DD
+1 more
GConflicting classifications of pathogenicity
MFN2
(Q235H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GPathogenic
MFN2
(R707Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+4 more
GUncertain significance
MFN2
(S743R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+1 more
GUncertain significance
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
(T232S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
MFN2
(D261H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GUncertain significance
MFN2
(S249C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely pathogenic
MFN2
(A608T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GUncertain significance
MFN2
(N107K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+1 more
GUncertain significance
MFN2
(Q172R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GUncertain significance
MFN2
(S479C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
(M234K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
MFN2
(K307E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
MFN2
(V91M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+4 more
GUncertain significance
MFN2
(H361Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely pathogenic
MFN2
(R294*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic/Likely pathogenic
MFN2
(A220T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+1 more
GPathogenic/Likely pathogenic
MFN2
(F223L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
MFN2
(S431L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
(R364L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MFN2
(R280P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
MFN2
(I213N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
MFN2
(T206A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
MFN2
(H96N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GUncertain significance
MFN2
(R7*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 2A2
GUncertain significance
MFN2
(E149K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+1 more
GUncertain significance
MFN2
(T232N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MFN2
(Q754fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 2
+2 more
GConflicting classifications of pathogenicity
MFN2
(A738V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
MFN2
(R400P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GUncertain significance
MFN2
(L710P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+1 more
GPathogenic/Likely pathogenic
MFN2
(A166V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+1 more
GPathogenic/Likely pathogenic
MFN2
(Q751*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
MFN2
(R364P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
MFN2
(E208D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GUncertain significance
ATP1A1, ATP1A1-AS1
(D811A +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-marie-tooth disease, axonal, type 2DD
+1 more
GConflicting classifications of pathogenicity
ATP1A1, ATP1A1-AS1
(I592T +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ATP1A1, ATP1A1-AS1
(P600T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ATP1A1, ATP1A1-AS1
(P600A +1 more)
Single nucleotide variant
(missense variant)
Charcot-marie-tooth disease, axonal, type 2DD
GPathogenic
ATP1A1
(L48R +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
MFN2
(L504P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
MFN2
(R476G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
MFN2
(R519C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+2 more
GUncertain significance
MFN2
(A383del)
Microsatellite
(inframe_deletion)
not provided
+3 more
GUncertain significance
2-aminoadipic 2-oxoadipic aciduria
GLikely pathogenic
MFN2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2A2
+6 more
GBenign/Likely benign
MFN2
(L218P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+2 more
GConflicting classifications of pathogenicity
MFN2
(G176S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
MFN2
(V160G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
MFN2
(R649P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GLikely pathogenic
MFN2
(V244M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+1 more
GPathogenic
MFN2
(V244L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GPathogenic
MFN2
(T236M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+5 more
GConflicting classifications of pathogenicity
MFN2
(H165R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
MFN2
(L146F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+2 more
GPathogenic/Likely pathogenic
MFN2
(Y752*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
MFN2
(M376V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
MFN2
(T105M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+3 more
GPathogenic/Likely pathogenic
MFN2
(R663C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
MFN2
(S249F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic/Likely pathogenic
MFN2
(G298R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
+8 more
GBenign/Likely benign
MFN2
(R259C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
MFN2
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
MFN2
(V705I)
Single nucleotide variant
(missense variant)
not specified
+7 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary motor and sensory, type 6A
+7 more
GBenign/Likely benign
DHTKD1
(Y485*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2Q
GLikely pathogenic
DHTKD1
(R410*)
Single nucleotide variant
(nonsense)
2-aminoadipic 2-oxoadipic aciduria
GPathogenic
DHTKD1
(G729R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DHTKD1
(M1V)
Single nucleotide variant
(missense variant +1 more)
2-aminoadipic 2-oxoadipic aciduria
+1 more
GConflicting classifications of pathogenicity
MFN2
(T362M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+6 more
GPathogenic/Likely pathogenic
MFN2
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
MFN2
(R468H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GBenign/Likely benign
MFN2
(R104W)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary motor and sensory, type 6A
+7 more
GPathogenic
MFN2
(R707W)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary motor and sensory, type 6A
+9 more
GPathogenic/Likely pathogenic
MFN2
(R364W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GPathogenic
MFN2
(Q276R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MFN2
(R94W)
Single nucleotide variant
(missense variant)
not provided
+19 more
GPathogenic
MFN2
(H165D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
MFN2
(K357N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
MFN2
(V69F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
GPathogenic
MFN2
(P251A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GPathogenic
MFN2
(R280H)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary motor and sensory, type 6A
+5 more
GPathogenic
MFN2
(L76P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
MFN2
(W740S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
MFN2
(R94Q)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary motor and sensory, type 6A
+5 more
GPathogenic
Format
Items per page
Sort by
Choose Destination