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Items: 1 to 100 of 679

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
ESRRB, EVL
+1421 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1202 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+1071 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+880 more
Copy number gain
See cases
GPathogenic
ZFYVE21, ZNF839
+662 more
Copy number gain
See cases
GPathogenic
SNORD114-11, SNORD114-12
+754 more
Copy number loss
See cases
GPathogenic
BCL11B, CCDC85C
+81 more
Copy number loss
See cases
GPathogenic
LOC130056455, LOC130056456
+670 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+666 more
Copy number loss
See cases
GPathogenic
BCL11B
Single nucleotide variant
(3 prime UTR variant)
BCL11B-related condition
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)
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
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 condition
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 provided
GLikely benign
BCL11B
(H774D +3 more)
Single nucleotide variant
(missense variant)
not provided
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
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
(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 condition
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
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 provided
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 condition
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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
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
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)
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
+1 more
GPathogenic
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
+1 more
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
BCL11B-related condition
+1 more
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 provided
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 condition
+1 more
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BCL11B
(S764P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BCL11B
Single nucleotide variant
(synonymous variant)
BCL11B-related condition
+1 more
GLikely benign
BCL11B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCL11B
(L758V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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
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