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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LITAF
(P135R)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease
GUncertain significance
LITAF
(P135S)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease
GUncertain significance
LITAF
(P135T)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GPathogenic
LITAF
(A129T)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(W116G)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GPathogenic
LITAF
(T115N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
LITAF
(G112S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+3 more
GPathogenic
LITAF
(A111G)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GPathogenic
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