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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL4B
Copy number loss
See cases
GLikely pathogenic
CUL4B
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CUL4B
(Y715fs +3 more)
Duplication
(frameshift variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
(Y715N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
(Q908* +3 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
CUL4B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
CUL4B
(D706E +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
(D706N +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
(D879fs +3 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
CUL4B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
CUL4B
(R896Q +3 more)
Single nucleotide variant
(missense variant)
Pettigrew syndrome
GLikely pathogenic
CUL4B
(R693K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
(K691N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
Single nucleotide variant
(intron variant)
X-linked intellectual disability Cabezas type
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
not provided
GBenign
CUL4B
Duplication
(intron variant)
not provided
GLikely benign
CUL4B
Duplication
(intron variant)
not provided
GBenign
CUL4B
Single nucleotide variant
(intron variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
Deletion
(nonsense)
X-linked intellectual disability Cabezas type
GLikely pathogenic
CUL4B
(Y678F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
(L846fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CUL4B
(K859N +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
(I658V +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
(R650fs +3 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic
CUL4B
(R650G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CUL4B
Deletion
(intron variant)
CUL4B-related disorder
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
X-linked intellectual disability Cabezas type
GLikely benign
CUL4B
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
CUL4B
(T635M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
(I625R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
(R624W +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
(F623fs +3 more)
Deletion
(frameshift variant)
X-linked intellectual disability Cabezas type
GLikely pathogenic
CUL4B
(K619I +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
(D608N +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
(K604R +3 more)
Single nucleotide variant
(missense variant)
CUL4B-related disorder
GUncertain significance
CUL4B
(A598V +3 more)
Single nucleotide variant
(missense variant)
CUL4B-related disorder
GUncertain significance
CUL4B
Single nucleotide variant
(synonymous variant)
X-linked intellectual disability Cabezas type
GLikely benign
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
(L589S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
Single nucleotide variant
(synonymous variant)
X-linked intellectual disability Cabezas type
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
not provided
GBenign
CUL4B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CUL4B
(E578* +3 more)
Duplication
(nonsense)
X-linked intellectual disability Cabezas type
GPathogenic
CUL4B
(T575I +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
(F735fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CUL4B
(Q548* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
X-linked intellectual disability Cabezas type
GBenign
CUL4B
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
CUL4B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
not provided
GBenign
CUL4B
Single nucleotide variant
(intron variant)
X-linked intellectual disability Cabezas type
GLikely benign
CUL4B
(E542K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
(E542* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CUL4B
(K537R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
(L536fs +3 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic
CUL4B
(C534R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
Single nucleotide variant
(synonymous variant)
X-linked intellectual disability Cabezas type
GLikely benign
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
(H520Y +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
X-linked intellectual disability Cabezas type
GBenign
CUL4B
(P503L +3 more)
Single nucleotide variant
(missense variant)
CUL4B-related disorder
GUncertain significance
CUL4B
(P699T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUL4B
(P502L +3 more)
Single nucleotide variant
(missense variant)
CUL4B-related disorder
GUncertain significance
CUL4B
(M675V +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability Cabezas type
GBenign
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CUL4B
(Y647fs +3 more)
Duplication
(frameshift variant)
not provided
GPathogenic
CUL4B
Indel
(intron variant)
not provided
GUncertain significance
CUL4B
Single nucleotide variant
(intron variant)
X-linked intellectual disability Cabezas type
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
X-linked intellectual disability Cabezas type
GBenign
CUL4B
Duplication
(intron variant)
not provided
GLikely benign
CUL4B
(F662L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
(D455E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL4B
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CUL4B
(G638V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CUL4B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CUL4B
Single nucleotide variant
(intron variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
Single nucleotide variant
(intron variant)
X-linked intellectual disability Cabezas type
GBenign
CUL4B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
CUL4B-related disorder
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
CUL4B-related disorder
GLikely benign
CUL4B
Single nucleotide variant
(intron variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
Deletion
(splice donor variant)
Inborn genetic diseases
GLikely pathogenic
CUL4B
Single nucleotide variant
(splice donor variant)
CUL4B-related X-linked intellectual disability
GPathogenic
CUL4B
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GLikely pathogenic
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
(L434P +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability Cabezas type
GUncertain significance
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
CUL4B
Single nucleotide variant
(synonymous variant)
CUL4B-related disorder
GLikely benign
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