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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFN2
(R135L)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary motor and sensory, type 6A
GUncertain significance
MFN2
(T232N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance