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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
YARS1
(G524E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YARS1
(D385A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
YARS1
(Y166C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
+1 more
GUncertain significance
YARS1
(W87*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
YARS1
(I59M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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