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Links from MedGen

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX11
(R111G +1 more)
Single nucleotide variant
(missense variant +3 more)
Warsaw breakage syndrome
GUncertain significance
DDX11
Single nucleotide variant
(splice donor variant)
Warsaw breakage syndrome
GLikely pathogenic
DDX11
(A222P +5 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GUncertain significance
DDX11
(C374Y +5 more)
Single nucleotide variant
(missense variant +1 more)
Warsaw breakage syndrome
GUncertain significance
DDX11
(G125S +5 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GUncertain significance
DDX11
(H117Y +4 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GUncertain significance
DDX11
(E107K +5 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GUncertain significance
DDX11
(R741Q +2 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
+2 more
GUncertain significance
DDX11
(T596fs +1 more)
Duplication
(frameshift variant)
Warsaw breakage syndrome
GPathogenic
DDX11
(N463I +1 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GUncertain significance
DDX11
(V673A +1 more)
Single nucleotide variant
(missense variant +1 more)
Warsaw breakage syndrome
GUncertain significance
DDX11
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+2 more
GUncertain significance
DDX11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DDX11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DDX11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX11
Single nucleotide variant
(splice acceptor variant)
Warsaw breakage syndrome
GPathogenic
DDX11
Single nucleotide variant
(splice donor variant)
Warsaw breakage syndrome
GPathogenic
DDX11
Single nucleotide variant
(splice acceptor variant)
Warsaw breakage syndrome
GLikely pathogenic
DDX11
(S443fs +1 more)
Duplication
(frameshift variant)
Warsaw breakage syndrome
+1 more
GPathogenic/Likely pathogenic
DDX11
(R532* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
DDX11
(E647* +1 more)
Single nucleotide variant
(nonsense)
Warsaw breakage syndrome
GPathogenic
DDX11
(Q694* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
DDX11
(V858I +3 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
+1 more
GBenign
DDX11
(A607P +1 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
+1 more
GBenign/Likely benign
DDX11
(Q541E +1 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
+1 more
GBenign
DDX11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX11
Single nucleotide variant
(splice donor variant)
Warsaw breakage syndrome
GPathogenic
DDX11
(V859G +3 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GUncertain significance
DDX11
(R604fs +1 more)
Deletion
(frameshift variant)
Warsaw breakage syndrome
Gnot provided
DDX11
(P877L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
DDX11
(R378P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
DDX11
Single nucleotide variant
(splice acceptor variant)
Warsaw breakage syndrome
+1 more
GPathogenic
DDX11
(R263Q +1 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GPathogenic
DDX11
(K897del +3 more)
Deletion
(inframe_deletion)
Warsaw breakage syndrome
GPathogenic
DDX11
Single nucleotide variant
(splice donor variant)
Warsaw breakage syndrome
GPathogenic
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