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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
YARS1
(R400Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(E157D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1
(T44A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
YARS1, ZBTB8A
+41 more
Copy number loss
not provided
GPathogenic
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