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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSNK2A1
(R197* +1 more)
Single nucleotide variant
(nonsense)
CSNK2A1-related neurodevelopmental syndrome
GLikely pathogenic
CSNK2A1
(R176W +1 more)
Single nucleotide variant
(missense variant)
Developmental disorder
+3 more
GPathogenic/Likely pathogenic
ANGPT4, C20orf96
+19 more
Deletion
not provided
GPathogenic
C20orf202, ZCCHC3
+35 more
Deletion
not provided
GPathogenic
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