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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
(R377H +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
+1 more
GConflicting classifications of pathogenicity
CTCF
(P643S +1 more)
Single nucleotide variant
(missense variant)
CTCF-related condition
+4 more
GBenign/Likely benign
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