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Items: 1 to 100 of 766

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX3X
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
DDX3X
(M1V)
Single nucleotide variant
(missense variant +3 more)
not provided
GPathogenic
DDX3X
(M1I)
Single nucleotide variant
(missense variant +3 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(M1I)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GPathogenic
DDX3X
(M1I)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GPathogenic
DDX3X
(H3fs)
Duplication
(frameshift variant +2 more)
DDX3X-Related Neurodevelopmental Disorder
GLikely pathogenic
DDX3X
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DDX3X
(N8S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DDX3X
(G11R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(D13G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(Q14*)
Single nucleotide variant
(nonsense +2 more)
Intellectual disability
+1 more
GPathogenic
DDX3X
(Q14H)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability, X-linked 102
GBenign
DDX3X
(Q15*)
Single nucleotide variant
(nonsense +2 more)
Neoplasm
OUncertain significance
DDX3X
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
DDX3X
Single nucleotide variant
(splice donor variant)
Intellectual disability, X-linked 102
GLikely pathogenic
DDX3X
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
DDX3X
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Duplication
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
(A17G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(D20Y)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability, X-linked 102
GUncertain significance
DDX3X
(D25fs)
Duplication
(frameshift variant +2 more)
not provided
GLikely pathogenic
DDX3X
Duplication
(inframe_insertion +2 more)
Intellectual disability, X-linked 102
GUncertain significance
DDX3X
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DDX3X
(S24*)
Single nucleotide variant
(nonsense +2 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DDX3X
(N26fs)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
DDX3X
(Q27fs)
Insertion
(frameshift variant +2 more)
not provided
GPathogenic
DDX3X
(Q27*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic/Likely pathogenic
DDX3X
(S28fs)
Duplication
(frameshift variant +2 more)
not provided
GPathogenic
DDX3X
(Q27P)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(S28fs)
Microsatellite
(frameshift variant +2 more)
not provided
GPathogenic
DDX3X
(G30V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(S35fs +1 more)
Microsatellite
(frameshift variant +2 more)
Intellectual disability, X-linked 102
GPathogenic
DDX3X
(T32fs)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
DDX3X
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DDX3X
Duplication
(splice donor variant)
not provided
GPathogenic
DDX3X
Single nucleotide variant
(splice donor variant)
Intellectual disability
GPathogenic
DDX3X
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 102
GLikely pathogenic
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Duplication
(intron variant)
not provided
GLikely benign
DDX3X
Deletion
(intron variant)
not provided
GBenign
DDX3X
Deletion
(intron variant)
not provided
GBenign
DDX3X
Duplication
(5 prime UTR variant +1 more)
not provided
GBenign
DDX3X
Microsatellite
(5 prime UTR variant +1 more)
DDX3X-related disorder
GLikely benign
DDX3X
Microsatellite
(5 prime UTR variant +1 more)
DDX3X-related disorder
GBenign
DDX3X
Duplication
(5 prime UTR variant +1 more)
not provided
GLikely benign
DDX3X
Duplication
(5 prime UTR variant +1 more)
not provided
GBenign/Likely benign
DDX3X
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
DDX3X
(Y38fs)
Microsatellite
(frameshift variant +3 more)
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
DDX3X
(Y38C)
Single nucleotide variant
(missense variant +3 more)
Intellectual disability, X-linked 102
+1 more
GPathogenic/Likely pathogenic
DDX3X
(P41del)
Microsatellite
(inframe_deletion +3 more)
not provided
GPathogenic
DDX3X
(P40S)
Single nucleotide variant
(missense variant +3 more)
Intellectual disability, X-linked 102
+1 more
GLikely pathogenic
DDX3X
(P40L)
Single nucleotide variant
(missense variant +3 more)
Intellectual disability, X-linked 102
GLikely pathogenic
DDX3X
(P40R)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GPathogenic
DDX3X
(P41S)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
DDX3X
(P41H)
Single nucleotide variant
(missense variant +3 more)
Intellectual disability, X-linked 102
GUncertain significance
DDX3X
Single nucleotide variant
(synonymous variant +3 more)
Inborn genetic diseases
GLikely benign
DDX3X
(N45Y)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
DDX3X
(R46*)
Single nucleotide variant
(nonsense +3 more)
Intellectual disability, X-linked 102
+1 more
GPathogenic
DDX3X
(G51fs)
Deletion
(frameshift variant +3 more)
Marfanoid habitus and intellectual disability
GLikely pathogenic
DDX3X
(K50*)
Single nucleotide variant
(nonsense +3 more)
not provided
GPathogenic
DDX3X
Single nucleotide variant
(splice donor variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DDX3X
Deletion
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Deletion
(intron variant)
not specified
+1 more
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX3X
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
DDX3X
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
DDX3X
(G51D +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign/Likely benign
DDX3X
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DDX3X
(D40fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
GPathogenic
DDX3X
(D56fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
DDX3X
(D40fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
DDX3X
(S41N +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GBenign/Likely benign
DDX3X
(S57R +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
DDX3X
(S58A +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(S58* +1 more)
Single nucleotide variant
(nonsense +2 more)
Intellectual disability, X-linked 102
GPathogenic/Likely pathogenic
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