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Links from MedGen

Items: 1 to 100 of 136

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXP1
Single nucleotide variant
(intron variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Single nucleotide variant
(intron variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
LOC126806714, FOXP1
Single nucleotide variant
(intron variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Single nucleotide variant
(intron variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
+1 more
GConflicting classifications of pathogenicity
FOXP1, LOC126806714
(K408fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(G203* +4 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(S168T +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Single nucleotide variant
(splice acceptor variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(W209* +4 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(M476* +5 more)
Indel
(nonsense +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(P83T)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Gnot provided
FOXP1
Copy number loss
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Gnot provided
FOXP1
(L548P +6 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(S417fs +4 more)
Duplication
(frameshift variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1, LOC126806714
Single nucleotide variant
(splice donor variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(K341fs +4 more)
Duplication
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(H204fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(L32I)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(A463T +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXP1
(E217K +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Duplication
(splice acceptor variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
+1 more
GUncertain significance
FOXP1
(M328R +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(G47R)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(S20L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1, LOC126806714
Single nucleotide variant
(splice acceptor variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(M101V +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GUncertain significance
FOXP1
(Q60del)
Microsatellite
(inframe_deletion +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
+1 more
GUncertain significance
FOXP1
(L419P +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXP1
(E53D +6 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
+1 more
GConflicting classifications of pathogenicity
FOXP1
(I106V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FOXP1
(G39A)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(Q127H +1 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(Q161fs +3 more)
Duplication
(frameshift variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(T307M +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
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
Duplication
(splice acceptor variant)
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
(Q118* +4 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(Q116fs +4 more)
Duplication
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(V423fs +4 more)
Insertion
(frameshift variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(I107F +1 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(I323V +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(E259fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(L142fs +3 more)
Deletion
(frameshift variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(G164fs +3 more)
Deletion
(frameshift variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
Duplication
(intron variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(H567fs +5 more)
Deletion
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(H53Q)
Single nucleotide variant
(missense variant +1 more)
FOXP1-related condition
+2 more
GBenign/Likely benign
FOXP1
(S189T +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(N146fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(G13V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Single nucleotide variant
(intron variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(R525K)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Single nucleotide variant
(intron variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(N572fs +5 more)
Deletion
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(S175fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(H162fs +3 more)
Deletion
(frameshift variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(Q300* +4 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(V242G +4 more)
Single nucleotide variant
(missense variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(Q161* +3 more)
Single nucleotide variant
(nonsense +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(F560S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FOXP1
Single nucleotide variant
(intron variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(Q375P +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(H530Y +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FOXP1
Deletion
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(A411fs +4 more)
Duplication
(frameshift variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(S417N +4 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(V529M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXP1
(N12Y)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(L454P +5 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
(R362Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FOXP1
Deletion
(splice donor variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(I373fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1, LOC126806714
(L387fs +4 more)
Duplication
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(Q60R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FOXP1
(Q3R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
FOXP1
(H414R +4 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(P482S +5 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1, LOC126806714
(Y391C +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
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
(R413P +4 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(H267fs +4 more)
Duplication
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(I373fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(L315fs +4 more)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
FOXP1
(E40V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
FOXP1
(Q120fs +4 more)
Duplication
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(T368I +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
+1 more
GLikely pathogenic
FOXP1
(Y369F +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(L136H +1 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Deletion
(splice donor variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(A64T +3 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(T331fs +4 more)
Duplication
(frameshift variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
FOXP1
(L416R +4 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GLikely pathogenic
FOXP1
(S524G +5 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GUncertain significance
FOXP1
Single nucleotide variant
(splice donor variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
+1 more
GPathogenic
FOXP1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability-severe speech delay-mild dysmorphism syndrome
GPathogenic
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