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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFN2
(S431L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
(V273G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MFN2
(R707W)
Single nucleotide variant
(missense variant)
Peripheral axonal neuropathy
+8 more
GPathogenic/Likely pathogenic
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