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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCL11B
(R102S +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 49
GUncertain significance
BCL11B
(S259I +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 49
+1 more
GUncertain significance
BCL11B
(R175H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
Immunodeficiency 49
+2 more
GBenign/Likely benign
BCL11B
(P231Q +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 49
GUncertain significance
BCL11B
(E749fs +3 more)
Duplication
(frameshift variant)
Immunodeficiency 49
+1 more
GPathogenic
BCL11B
(G558fs +3 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
BCL11B
(H230Q +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 49
GUncertain significance
BCL11B
(P99L +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 49
GUncertain significance
BCL11B
(M334V +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 49
GUncertain significance
BCL11B
(N807K +3 more)
Single nucleotide variant
(missense variant)
BCL11B-related BAFopathy
+2 more
GPathogenic/Likely pathogenic
BCL11B
(N441K +3 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency
+1 more
GPathogenic
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