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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS1
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
AARS1
(T608M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+4 more
GConflicting classifications of pathogenicity
AARS1
(G102R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
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