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Items: 1 to 100 of 203

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX3X, LOC130068160
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
DDX3X, LOC130068161
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
DDX3X, LOC130068161
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
DDX3X, LOC130068161
Deletion
(non-coding transcript variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
DDX3X
(N8S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(G11R)
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
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
Single nucleotide variant
(intron variant)
not provided
GBenign
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
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
Duplication
(5 prime UTR variant +1 more)
not provided
GLikely benign
DDX3X
Duplication
(5 prime UTR variant +1 more)
DDX3X-related condition
+1 more
GBenign/Likely benign
DDX3X
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, X-linked 102
+1 more
GBenign/Likely benign
DDX3X
(P41del)
Microsatellite
(inframe_deletion +3 more)
not provided
GPathogenic
DDX3X
(P40R)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GPathogenic
DDX3X
(P41S)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GPathogenic/Likely pathogenic
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
(K50*)
Single nucleotide variant
(nonsense +3 more)
not provided
GPathogenic
DDX3X
Single nucleotide variant
(splice donor variant +1 more)
not provided
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
GBenign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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)
DDX3X-related condition
+1 more
GBenign/Likely benign
DDX3X
(D40fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
DDX3X
(S58A +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(S45G +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GBenign/Likely benign
DDX3X
(D49G +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
DDX3X
(R59H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(S78* +1 more)
Single nucleotide variant
(nonsense +2 more)
Inborn genetic diseases
+1 more
GPathogenic
DDX3X
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign
DDX3X
(R79K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
Insertion
(nonsense +2 more)
not provided
GPathogenic
DDX3X
(F68C +1 more)
Single nucleotide variant
(missense variant +2 more)
DDX3X-related condition
+1 more
GConflicting classifications of pathogenicity
DDX3X
(F69fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
DDX3X
(R72C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(G73* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
DDX3X
(G78R +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX3X
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX3X
Deletion
(intron variant)
DDX3X-related condition
+1 more
GBenign/Likely benign
DDX3X
(F100L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(N108fs +1 more)
Deletion
(frameshift variant +2 more)
Intellectual disability, X-linked 102
+1 more
GPathogenic
DDX3X
(S109fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
GPathogenic
DDX3X
(D118E +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(P123R +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DDX3X
(E128G +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(Q148R +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DDX3X
(S136fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
GPathogenic
DDX3X
(S136fs +1 more)
Deletion
(frameshift variant +2 more)
Intellectual disability, X-linked 102
+1 more
GPathogenic
DDX3X
(S136F +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(N139K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(Y163* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GLikely pathogenic
DDX3X
Single nucleotide variant
(intron variant)
not provided
GPathogenic
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
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
DDX3X
(V169I +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX3X
(T198P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
DDX3X
(R16L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
DDX3X
(T188P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
DDX3X
(K192fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
DDX3X
(P212H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
DDX3X
(I198fs +2 more)
Indel
(frameshift variant +1 more)
not provided
GPathogenic
DDX3X
(L220S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
DDX3X
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
DDX3X
Inversion
(intron variant)
not provided
GLikely pathogenic
DDX3X
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX3X
Deletion
(intron variant)
not provided
GLikely benign
DDX3X
Microsatellite
(intron variant)
not provided
GBenign
DDX3X
(S224N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DDX3X
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, X-linked 102
+1 more
GPathogenic/Likely pathogenic
DDX3X
(A250T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX3X
(L235fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
DDX3X
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
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 specified
GLikely benign
DDX3X
(R247H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
DDX3X
(I252V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DDX3X
(P88fs +2 more)
Indel
(frameshift variant +1 more)
not provided
GPathogenic
DDX3X
(E91fs +2 more)
Microsatellite
(frameshift variant +1 more)
Intellectual disability, X-linked 102
+2 more
GPathogenic/Likely pathogenic
DDX3X
(K288E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
DDX3X
Indel
(splice donor variant)
not provided
GPathogenic
DDX3X
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+1 more
GPathogenic
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