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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB7A
(L129F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GPathogenic
RAB7A
(K157N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
RAB7A
(N161I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GPathogenic
RAB7A
(N161T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
RAB7A
(V162M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B
GPathogenic
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