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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MORC2
(A183T +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
+1 more
GUncertain significance
NKAP
(E124K)
Single nucleotide variant
(missense variant)
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
GUncertain significance