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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFF
(V135I +2 more)
Single nucleotide variant
(missense variant +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
+1 more
GConflicting classifications of pathogenicity
MFF
(P31L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
MFF
(I153M +6 more)
Single nucleotide variant
(missense variant +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
GUncertain significance
MFF
(W216R +6 more)
Single nucleotide variant
(missense variant +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
GUncertain significance
MFF
(I202S +6 more)
Single nucleotide variant
(missense variant +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
GUncertain significance
MFF
(R145* +2 more)
Single nucleotide variant
(nonsense +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
GPathogenic
MFF
(P139T +2 more)
Single nucleotide variant
(missense variant +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
GUncertain significance
MFF
(T45fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
GPathogenic
MFF
Single nucleotide variant
(synonymous variant +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
+2 more
GBenign/Likely benign
MFF
(E77fs +2 more)
Deletion
(frameshift variant +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
GPathogenic
MFF
(R298* +6 more)
Single nucleotide variant
(nonsense +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
GPathogenic
MFF
(L62fs +1 more)
Duplication
(frameshift variant +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
GPathogenic
MFF
(Q64* +1 more)
Single nucleotide variant
(nonsense +1 more)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
+2 more
GPathogenic/Likely pathogenic
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