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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GARS1
(A111V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(E71G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+2 more
GConflicting classifications of pathogenicity
GARS1
(L129P +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GARS1
(D146Y +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2D
Gnot provided
GARS1
(G240R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GARS1
(P244L +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2D
GConflicting classifications of pathogenicity
GARS1
(I334F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GARS1
(I334N +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic/Likely pathogenic
GARS1
(H472R +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
GARS1
(D500N +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2D
+2 more
GConflicting classifications of pathogenicity
GARS1
(G526R +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
GARS1
(G652A +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
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