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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS1
(R633C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
+1 more
GUncertain significance
AARS1
(E363Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2N
GUncertain significance