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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS1
(G931S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+2 more
GBenign/Likely benign
AARS1
(R729W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
AARS1
(T562I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GBenign/Likely benign
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