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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBF1
(S1299R +8 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Disease, axonal, type 2GG
GUncertain significance
GBF1
(G1634A +12 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Disease, axonal, type 2GG
GUncertain significance