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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GARS1
(I334N +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic/Likely pathogenic
GARS1
(G652R +1 more)
Single nucleotide variant
(missense variant)
Spinal muscular atrophy, infantile, James type
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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