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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEKHG5
(L907P +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLEKHG5
(E879K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG5
(R842Q +3 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+3 more
GUncertain significance
PLEKHG5
(G743S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PLEKHG5
(G674D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG5
(T663M +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
PLEKHG5
(R662K +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease recessive intermediate C
+3 more
GConflicting classifications of pathogenicity
PLEKHG5
(E580* +2 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease recessive intermediate C
+2 more
GPathogenic/Likely pathogenic
PLEKHG5
(A577T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLEKHG5
(D569N +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLEKHG5
(V541M +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease recessive intermediate C
+2 more
GUncertain significance
PLEKHG5
(R520L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease recessive intermediate C
+2 more
GUncertain significance
PLEKHG5
(L477Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG5
(M496T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLEKHG5
(E450G +2 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+2 more
GUncertain significance
PLEKHG5
(G373R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG5
(N368Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG5
(I324T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PLEKHG5
(D310N +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease recessive intermediate C
+4 more
GConflicting classifications of pathogenicity
PLEKHG5
(G284R +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLEKHG5
(D240G +3 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+3 more
GConflicting classifications of pathogenicity
PLEKHG5
(D240N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PLEKHG5
(R184H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG5
(R242W +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLEKHG5
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease recessive intermediate C
+3 more
GConflicting classifications of pathogenicity
PLEKHG5
(T132I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PLEKHG5
(P29L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PLEKHG5
(P28L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
PLEKHG5
(R25W +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLEKHG5
(R5W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PLEKHG5
Single nucleotide variant
(5 prime UTR variant)
not provided
GConflicting classifications of pathogenicity
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