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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTCF
(K206fs)
Deletion
(frameshift variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
+1 more
GPathogenic
CTCF
(Y226C)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
+1 more
GPathogenic
CTCF
(K260fs)
Microsatellite
(frameshift variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GPathogenic
CTCF
(R371C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
CTCF
(A369S +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
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