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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX11
(P111L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX11
(A106V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX11
Deletion
(splice acceptor variant)
not provided
+1 more
GUncertain significance
DDX11
(Q162* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
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
(Q283H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DDX11
(A321D +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
DDX11
(G328R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DDX11
(R378P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
DDX11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DDX11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DDX11
(S443fs +1 more)
Duplication
(frameshift variant)
Warsaw breakage syndrome
+1 more
GPathogenic/Likely pathogenic
DDX11
(T549A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX11
(N255S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DDX11
Single nucleotide variant
(splice acceptor variant)
Warsaw breakage syndrome
+1 more
GPathogenic
DDX11
(R467H +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DDX11
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
DDX11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DDX11
(E358fs +5 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
DDX11
(A692V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDX11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX11
(C437S +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DDX11
(A719fs +2 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
DDX11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DDX11
(R741Q +2 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
+2 more
GUncertain significance
DDX11
(S755A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX11
(A781P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX11
(A798V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DDX11
(A579G +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DDX11
(P819L +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DDX11
(P877L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
DDX11
(A830fs +3 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
DDX11
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+2 more
GUncertain significance
ACSM4, CCND2
+278 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
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