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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX11
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
DDX11
(Q694* +2 more)
Single nucleotide variant
(nonsense)
Warsaw breakage syndrome
+1 more
GPathogenic/Likely pathogenic