U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTCF
(E105K)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
CTCF
Duplication
(inframe_insertion +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
CTCF
(Q192P)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
CTCF
(R213H)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
CTCF
(F266L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
CTCF
(R368C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic
CTCF
(G254V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
CTCF
(S281Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GUncertain significance
ACD, AGRP
+47 more
Copy number loss
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination