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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KARS1
(E120Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease recessive intermediate B
+5 more
GUncertain significance
KARS1
Deletion
(intron variant)
not provided
+4 more
GBenign/Likely benign