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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STX1B
(L274P)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GUncertain significance
STX1B
(S47*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder
GPathogenic