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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCL11B
(S745fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GLikely pathogenic
BCL11B
(H746fs +3 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
+1 more
GConflicting classifications of pathogenicity
BCL11B
(N807K +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
BCL11B
(H456fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GLikely pathogenic
BCL11B
(R262Q +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
+1 more
GConflicting classifications of pathogenicity
BCL11B
(L70fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
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