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Links from MedGen

Items: 1 to 100 of 184

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXP2
(I506M +5 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(W481* +5 more)
Single nucleotide variant
(nonsense +1 more)
Childhood apraxia of speech
GLikely pathogenic
FOXP2
(R36C +5 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(V334L +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FOXP2
(Q230H +3 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(L121F +1 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(R513fs +3 more)
Deletion
(frameshift variant +1 more)
Childhood apraxia of speech
GPathogenic
FOXP2
(H37R +5 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(A111T)
Single nucleotide variant
(missense variant +2 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(P421S +3 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
+1 more
GConflicting classifications of pathogenicity
FOXP2
(S320F +3 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(W349* +3 more)
Single nucleotide variant
(nonsense +1 more)
Childhood apraxia of speech
GLikely pathogenic
FOXP2
Single nucleotide variant
(intron variant)
Childhood apraxia of speech
GUncertain significance
FOXP2
(R563* +3 more)
Single nucleotide variant
(nonsense +1 more)
Childhood apraxia of speech
+1 more
GPathogenic
FOXP2
(F537fs +3 more)
Deletion
(frameshift variant +1 more)
Childhood apraxia of speech
Gnot provided
FOXP2
(R535P +3 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
Gnot provided
FOXP2
(M405T +3 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
Gnot provided
FOXP2
(P504L +3 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
Gnot provided
FOXP2
(R477* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
FOXP2
(Q187* +2 more)
Single nucleotide variant
(nonsense +1 more)
Childhood apraxia of speech
GPathogenic
FOXP2
(Q196* +2 more)
Single nucleotide variant
(nonsense +1 more)
Childhood apraxia of speech
GPathogenic
FOXP2
(V44A)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(E4G)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(T450M +3 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(Q149H +2 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(intron variant)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(S42P)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
FOXP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
(D481N +3 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(intron variant)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(S298A +3 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
(Q210* +2 more)
Single nucleotide variant
(nonsense +1 more)
Childhood apraxia of speech
GPathogenic
FOXP2
(N645S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Childhood apraxia of speech
GUncertain significance
ZGRF1
(L48M)
Single nucleotide variant
(missense variant)
not specified
GBenign
ZGRF1
(E1363K +1 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
CDH18
Single nucleotide variant
(synonymous variant)
Childhood apraxia of speech
GUncertain significance
FOXP2
(R475* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
FOXP2
(S619N +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Childhood apraxia of speech
+1 more
GBenign/Likely benign
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Childhood apraxia of speech
+2 more
GBenign/Likely benign
FOXP2
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FOXP2
Single nucleotide variant
(splice donor variant)
Childhood apraxia of speech
GLikely pathogenic
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Duplication
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GLikely benign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GLikely benign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Deletion
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Deletion
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GLikely benign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
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