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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCL11B
(Q546* +3 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(S259I +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 49
+1 more
GUncertain significance
BCL11B
(P335fs +3 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(F331fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GLikely pathogenic
BCL11B
(A511V +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GUncertain significance
BCL11B
(R743fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(K766R +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GLikely pathogenic
BCL11B
(L797fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(A440fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GLikely pathogenic
BCL11B
(C60F +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GUncertain significance
BCL11B
(K353fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
Single nucleotide variant
(synonymous variant)
BCL11B-related condition
+3 more
GBenign/Likely benign
BCL11B
(S483fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(S488L +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
(E749fs +3 more)
Duplication
(frameshift variant)
Immunodeficiency 49
+1 more
GPathogenic
BCL11B
Single nucleotide variant
(splice donor variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(G711fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
+1 more
GPathogenic
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
(H456fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GLikely pathogenic
BCL11B
(L70fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(S764N +3 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
BCL11B
(S669F +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GUncertain significance
BCL11B
(R262Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BCL11B
(V741fs +3 more)
Insertion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(Q156* +3 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(G509fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GLikely pathogenic
BCL11B
(K519fs +3 more)
Microsatellite
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(E552Q +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
+1 more
GUncertain significance
BCL11B
(G577fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
+2 more
GPathogenic/Likely pathogenic
BCL11B
(G429fs +3 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(S612fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(E499* +3 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(C81fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(A820fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(G820fs +3 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(N807K +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
+1 more
GPathogenic/Likely pathogenic
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