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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTCF
(R339Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
+1 more
GConflicting classifications of pathogenicity
CTCF
(R238H +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
CTCF
(R567W +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
+3 more
GPathogenic
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