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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFN2
(N40S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MFN2
(L76P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
MFN2
(R94W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+19 more
GPathogenic
MFN2
(R104W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
+7 more
GPathogenic
MFN2
(R104L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
MFN2
(N131S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
MFN2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
MFN2
(G298R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+2 more
GBenign
MFN2
(A383V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
MFN2
(M393I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
MFN2
(R468H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+6 more
GBenign/Likely benign
MFN2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
LOC129929426, MFN2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+4 more
GConflicting classifications of pathogenicity
MFN2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+4 more
GConflicting classifications of pathogenicity
MFN2
(V705I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+7 more
GBenign/Likely benign
MFN2
(R707W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
+9 more
GPathogenic/Likely pathogenic
MFN2
(A716T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GConflicting classifications of pathogenicity
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