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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NRXN1
(V1316fs +14 more)
Deletion
(frameshift variant)
NRXN1-related disorder
Gnot provided
NRXN1
(D844A +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRXN1
(Y455C +7 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins-like syndrome 2
+1 more
GUncertain significance
NRXN1
Copy number loss
Pitt-Hopkins-like syndrome 2
Gnot provided
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