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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGD4
(R275* +5 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease type 4
GPathogenic
FGD4
(M298R +5 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4
GPathogenic
FGD4
(M298T +5 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
FGD4
(R442H +6 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
FGD4
(M222I +6 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4H
Gnot provided
FGD4
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
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