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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBR1
(S549fs)
Duplication
(frameshift variant)
Delayed fine motor development
+4 more
GLikely pathogenic
TBR1
(Q552fs)
Duplication
(frameshift variant)
Severe global developmental delay
+9 more
GLikely pathogenic