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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NSD2
(W930*)
Single nucleotide variant
(nonsense)
Microcephaly
GUncertain significance
WDR11
(Q419*)
Single nucleotide variant
(nonsense)
Microcephaly
GPathogenic
WDR11
(N480fs)
Deletion
(frameshift variant)
Microcephaly
GPathogenic
WDR11
Single nucleotide variant
(splice donor variant)
Microcephaly
GPathogenic
WDR11
Microsatellite
(splice acceptor variant)
not provided
+1 more
GPathogenic
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