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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NBEA
(K774N)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
NBEA
(R2253Q +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance