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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCL11B
(Y752* +3 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
BCL11B
(G568fs +3 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic
BCL11B
(G558fs +3 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
BCL11B
(Q546* +3 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(R415fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic
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