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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(Q680fs +1 more)
Deletion
(frameshift variant)
CACNA1A-related disorder
+4 more
GPathogenic/Likely pathogenic
MECP2
(E38fs +1 more)
Deletion
(frameshift variant +1 more)
Bulbar palsy
+11 more
GLikely pathogenic