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Items: 1 to 100 of 724

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD4, ABHD12B
+3284 more
Copy number gain
See cases
GPathogenic
LOC126861998, LOC126861999
+3279 more
Copy number gain
See cases
GPathogenic
ALDH6A1, ALKBH1
+1424 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1205 more
Copy number gain
See cases
GPathogenic
LOC130056392, LOC130056393
+1073 more
Copy number gain
See cases
GPathogenic
IGHD5-18, IGHD5-24
+881 more
Copy number gain
See cases
GPathogenic
LOC130056359, LOC130056360
+663 more
Copy number gain
See cases
GPathogenic
LOC130056380, LOC130056381
+755 more
Copy number loss
See cases
GPathogenic
BCL11B, CCDC85C
+81 more
Copy number loss
See cases
GPathogenic
LOC130056535, LOC130056536
+671 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+667 more
Copy number loss
See cases
GPathogenic
BCL11B
Single nucleotide variant
(3 prime UTR variant)
BCL11B-related disorder
GLikely benign
BCL11B
(S823R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(A820fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(I816M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL11B
(I816V +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
(M801fs +3 more)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(L797fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(Y794fs +3 more)
Deletion
(frameshift variant)
BCL11B-related disorder
GLikely pathogenic
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
(E780V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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
(H774D +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
BCL11B
(T773M +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
BCL11B
(T768fs +3 more)
Deletion
(frameshift variant)
Inborn genetic diseases
GLikely pathogenic
BCL11B
(K766R +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GLikely pathogenic
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
(C754fs +3 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GLikely pathogenic
BCL11B
(Y752* +3 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
BCL11B
(E749fs +3 more)
Duplication
(frameshift variant)
Immunodeficiency 49
+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
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(G748S +3 more)
Single nucleotide variant
(missense variant)
BCL11B-related disorder
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(G820fs +3 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(T747I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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
(R743fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
BCL11B
(V741fs +3 more)
Insertion
(frameshift variant)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
GPathogenic
BCL11B
(L739F +3 more)
Single nucleotide variant
(missense variant)
BCL11B-related disorder
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(N807K +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
BCL11B
(C729* +3 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
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
(S723C +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
(R721H +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
(G711fs +3 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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
(G711fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic
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
(S700R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BCL11B
(R695C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BCL11B
(S764P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(L687M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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