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Items: 1 to 100 of 530

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCL11B
(S823R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(I816M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(D813N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(N813fs +3 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(L809V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(H809Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
BCL11B
(E807D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(E807K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(G807S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(Q848* +3 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
BCL11B
(S764N +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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
(R816W +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(R744W +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(R714Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
BCL11B
(R714P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(G710R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(G780R +3 more)
Indel
(missense variant)
not provided
GUncertain significance
BCL11B
(G780S +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(G701R +3 more)
Single nucleotide variant
(missense variant)
BCL11B-related disorder
+1 more
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(P754L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(S681del +3 more)
Deletion
(inframe_deletion)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(S678G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(N676H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(E670D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(D660E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(A715G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(V641A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(V636L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(S632P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(P631R +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(A699V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(A627G +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
BCL11B
(A627T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(P625L +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
BCL11B
(P625S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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