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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IRF2BPL
(Y431*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
GLikely pathogenic
IRF2BPL
(A102fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder
GLikely pathogenic