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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCL11B
(G711fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
+1 more
GPathogenic
BCL11B
(C388* +3 more)
Single nucleotide variant
(nonsense)
See cases
GPathogenic
BCL11B
(R175H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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