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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUX1, LOC126860126
(V103A +3 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(E335Q +5 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(S857N +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(R1272* +1 more)
Single nucleotide variant
(nonsense +1 more)
Global developmental delay with or without impaired intellectual development
+1 more
GConflicting classifications of pathogenicity
CUX1
(R570C +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
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