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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTCF
Single nucleotide variant
(splice acceptor variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GLikely pathogenic
CTCF
(H373Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GLikely pathogenic