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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN2A
(L62fs)
Insertion
(frameshift variant)
Non-syndromic intellectual disability
GPathogenic
OTUD7A
(W410* +1 more)
Single nucleotide variant
(nonsense)
Non-syndromic intellectual disability
GPathogenic