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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RHOBTB2
(R511Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
GNAO1
(T182I)
Single nucleotide variant
(missense variant)
Dyskinesia
+1 more
GLikely pathogenic
GNAO1
(E237K)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic/Likely pathogenic
CSTB
Single nucleotide variant
(splice acceptor variant)
Microcephaly
+6 more
GPathogenic
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