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Items: 1 to 100 of 426

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
FOXP2, LOC110120618
+11 more
Copy number gain
See cases
GUncertain significance
FOXP2, LINC01393
+21 more
Copy number gain
See cases
GPathogenic
ASZ1, CAPZA2
+131 more
Copy number loss
Autism spectrum disorder
GPathogenic
AASS, ANKRD7
+248 more
Copy number loss
See cases
GPathogenic
AASS, ANKRD7
+253 more
Copy number loss
See cases
GPathogenic
FOXP2
Copy number loss
Childhood apraxia of speech
GBenign
CAPZA2, CAV1
+98 more
Copy number loss
See cases
GPathogenic
FOXP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Childhood apraxia of speech
+1 more
GConflicting classifications of pathogenicity
FOXP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Childhood apraxia of speech
+1 more
GBenign
FOXP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
(E4G)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
(Q17L)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
+2 more
GConflicting classifications of pathogenicity
FOXP2
(N18D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FOXP2
(G30D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FOXP2
(S36P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
FOXP2
(T40S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FOXP2
(S42T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FOXP2
(S42P)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(S42C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FOXP2
(V44A)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(L66*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
FOXP2
(Q67E)
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, LOC123956212
Copy number loss
See cases
GUncertain significance
FOXP2
Single nucleotide variant
(intron variant)
Childhood apraxia of speech
GUncertain significance
FOXP2
Single nucleotide variant
(intron variant)
not provided
GBenign
FOXP2
(D103E)
Single nucleotide variant
(missense variant +2 more)
FOXP2-related disorder
GUncertain significance
FOXP2
(A111T)
Single nucleotide variant
(missense variant +2 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(A111V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FOXP2
Microsatellite
(intron variant)
not provided
GUncertain significance
FOXP2
(V87L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FOXP2
(M119I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
(I124F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FOXP2
(L113fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(P115S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FOXP2
(P115A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FOXP2
(Q117H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
FOXP2
(L121F +1 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(Q123* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
FOXP2
(Q125* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
(V153F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FOXP2
(M129T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FOXP2
(L135fs)
Duplication
(intron variant +2 more)
not provided
GUncertain significance
FOXP2
(A144V)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
FOXP2
(Q149H +2 more)
Single nucleotide variant
(missense variant +1 more)
Childhood apraxia of speech
GUncertain significance
FOXP2
(Q216del +2 more)
Microsatellite
(inframe_deletion +1 more)
not specified
GLikely benign
FOXP2
(Q154* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
FOXP2
Microsatellite
(inframe_insertion +1 more)
not specified
GLikely benign
FOXP2
Microsatellite
(inframe_insertion +1 more)
Childhood apraxia of speech
+1 more
GLikely benign
FOXP2
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
Indel
(inframe_deletion +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
FOXP2
Deletion
(inframe_deletion +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
(Q165H +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GLikely benign
FOXP2
(Q168* +2 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
FOXP2-related disorder
GLikely benign
FOXP2
(Q168H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
FOXP2
(Q169* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
FOXP2
(Q216del +2 more)
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
FOXP2
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
(Q173K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Childhood apraxia of speech
GBenign
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
FOXP2
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
+1 more
GLikely benign
FOXP2
Microsatellite
(inframe_insertion +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
(Q216del +2 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
FOXP2
(Q196R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
FOXP2
(Q180* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
FOXP2
(Q210* +2 more)
Single nucleotide variant
(nonsense +1 more)
Childhood apraxia of speech
GPathogenic
FOXP2
(Q186* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
FOXP2
(Q187* +2 more)
Single nucleotide variant
(nonsense +1 more)
Childhood apraxia of speech
GPathogenic
FOXP2
Duplication
(inframe_insertion +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GBenign
FOXP2
(Q196* +2 more)
Single nucleotide variant
(nonsense +1 more)
Childhood apraxia of speech
GPathogenic
FOXP2
Single nucleotide variant
(synonymous variant +1 more)
FOXP2-related disorder
GLikely benign
FOXP2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
FOXP2
Single nucleotide variant
(intron variant)
Childhood apraxia of speech
+1 more
GBenign/Likely benign
FOXP2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
FOXP2
Microsatellite
not provided
+3 more
GBenign/Likely benign
FOXP2
Microsatellite
Inborn genetic diseases
GLikely benign
FOXP2
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity

Items: 1 to 100 of 426

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