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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXP1
(R525* +4 more)
Single nucleotide variant
(nonsense +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
+1 more
GPathogenic
FOXP1, LOC126806714
(R503* +4 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
+1 more
GPathogenic
FOXP1
(P466A +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
+4 more
GLikely pathogenic
FOXP1
(E40V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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