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Items: 1 to 100 of 395

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
ACHE, ACTL6B
+310 more
Copy number loss
See cases
GPathogenic
ACHE, ACTL6B
+283 more
Copy number gain
See cases
GUncertain significance
ACHE, ACTL6B
+207 more
Copy number loss
See cases
GPathogenic
ALKBH4, ARMC10
+149 more
Copy number gain
See cases
GPathogenic
CUX1
Single nucleotide variant
not provided
GLikely benign
ALKBH4, ARMC10
+292 more
Copy number loss
See cases
GPathogenic
CUX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUX1
(G6R)
Single nucleotide variant
(missense variant)
CUX1-related disorder
GUncertain significance
CUX1
(K13R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUX1
(Q21*)
Single nucleotide variant
(nonsense)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
Single nucleotide variant
(splice donor variant)
Global developmental delay with or without impaired intellectual development
+1 more
GConflicting classifications of pathogenicity
CUX1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
CUX1
(T18M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(R33W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CUX1
(K54N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
Single nucleotide variant
(intron variant)
CUX1-related disorder
GBenign
CUX1
(A28G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CUX1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CUX1
Single nucleotide variant
(splice acceptor variant)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(I38V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
(V62I +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
CUX1
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GLikely pathogenic
CUX1, LOC126860126
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CUX1, LOC126860126
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CUX1, LOC126860126
Single nucleotide variant
(splice acceptor variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1, LOC126860126
(V103A +3 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1, LOC126860126
(D107H +3 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1, LOC126860126
(E115K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126860126, CUX1
(V106M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CUX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUX1
(E113A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CUX1
(T117A +4 more)
Single nucleotide variant
(missense variant)
CUX1-related disorder
GUncertain significance
CUX1
(L118V +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(K119T +4 more)
Single nucleotide variant
(missense variant)
CUX1-related disorder
GUncertain significance
CUX1
(I134T +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUX1
(A156D +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUX1
(L162F +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CUX1
(Q131E +4 more)
Single nucleotide variant
(missense variant)
CUX1-related disorder
GUncertain significance
CUX1
(Q131H +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUX1
Single nucleotide variant
(splice donor variant)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(L144P +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(Q145* +4 more)
Single nucleotide variant
(nonsense)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(M158V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
(M149R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
(A158T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUX1
(T167I +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
Single nucleotide variant
(intron variant)
Global developmental delay with or without impaired intellectual development
+1 more
GBenign
CUX1
(R173Q +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
CUX1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CUX1
Single nucleotide variant
(intron variant)
Global developmental delay with or without impaired intellectual development
+1 more
GBenign
CUX1
Single nucleotide variant
(intron variant)
Global developmental delay with or without impaired intellectual development
+1 more
GBenign
CUX1
(A200T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CUX1
(M196V +4 more)
Single nucleotide variant
(missense variant)
Duane retraction syndrome
GUncertain significance
CUX1
(Q206K +4 more)
Single nucleotide variant
(missense variant)
CUX1-related disorder
GUncertain significance
CUX1
(R219S +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(S224L +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
Single nucleotide variant
(synonymous variant)
CUX1-related disorder
GLikely benign
CUX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUX1
(V241M +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUX1
(L257* +5 more)
Single nucleotide variant
(nonsense)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(A289T +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUX1
(L278F +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CUX1
(T323I +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
(E283* +5 more)
Single nucleotide variant
(nonsense)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUX1
(Q313* +5 more)
Single nucleotide variant
(nonsense)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(E318fs +5 more)
Deletion
(frameshift variant)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
Single nucleotide variant
(intron variant)
CUX1-related disorder
GLikely benign
CUX1
Single nucleotide variant
(synonymous variant)
Global developmental delay with or without impaired intellectual development
+1 more
GBenign
CUX1
(E335Q +5 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(E347G +5 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(L358M +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CUX1
(R421W +1 more)
Single nucleotide variant
(intron variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(P431fs +1 more)
Duplication
(frameshift variant +1 more)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(A428V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(P430A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CUX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CUX1
(Q444* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
CUX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CUX1
(G439fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
CUX1
(E440* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CUX1
(E451A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(Q450K +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(A454V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CUX1
(S469G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CUX1
Single nucleotide variant
(synonymous variant +1 more)
CUX1-related disorder
GLikely benign
CUX1
(M508I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
CUX1
(S513I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(Q520* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
CUX1
(S526fs +1 more)
Deletion
(frameshift variant +1 more)
Neurodevelopmental disorder
+1 more
GPathogenic/Likely pathogenic
CUX1
(P527L +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(M532fs +1 more)
Deletion
(frameshift variant +1 more)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(M532V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(G543R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(S544R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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