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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXP1
(H567fs +5 more)
Deletion
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
Duplication
(splice donor variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
FOXP1
(R525* +4 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
FOXP1
(F523S +4 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GConflicting classifications of pathogenicity
FOXP1
(R514C +4 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
+2 more
GPathogenic
FOXP1, LOC126806714
Duplication
(inframe_insertion +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(L313fs +4 more)
Deletion
(frameshift variant +1 more)
FOXP1-related condition
+2 more
GPathogenic
FOXP1
(T307M +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(L315fs +4 more)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
FOXP1
Duplication
(splice acceptor variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(Q161fs +3 more)
Duplication
(frameshift variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(Q127H +1 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(H53Q)
Single nucleotide variant
(missense variant +1 more)
FOXP1-related condition
+2 more
GBenign/Likely benign
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