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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD8
(K1845fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic
CHD8
Deletion
(splice donor variant)
Intellectual developmental disorder with autism and macrocephaly
GLikely pathogenic