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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064454, PRX
(E49*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease
GUncertain significance
LOC130064454, PRX
(R45G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
LOC130064454, PRX
(F43fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease
GPathogenic
LOC130064454, PRX
(K39fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease
GUncertain significance
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