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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTCF
(L40V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
CTCF
(Q72H)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
CTCF
(P195A)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
CTCF
(K206fs)
Deletion
(frameshift variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
+1 more
GPathogenic
CTCF
Single nucleotide variant
(splice acceptor variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GLikely pathogenic
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