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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXP1
(P482S +5 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FOXP1
(R413P +4 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1, LOC126806714
(Y391C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXP1
(Y369F +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(V316fs +4 more)
Duplication
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(V215fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(Q161* +3 more)
Single nucleotide variant
(nonsense +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(A15V)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
FOXP1
Deletion
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
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