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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSNK2A1
(G177S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CSNK2A1
(R43*)
Single nucleotide variant
(nonsense +1 more)
Okur-Chung neurodevelopmental syndrome
GPathogenic