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Links from MedGen

Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUX1
(Q677E +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(L144P +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(N701K +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GLikely benign
CUX1
(Y548* +4 more)
Single nucleotide variant
(nonsense)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(Y1295* +1 more)
Duplication
(nonsense +1 more)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(Q1186* +1 more)
Single nucleotide variant
(nonsense +1 more)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(R1325P +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(E877D +1 more)
Single nucleotide variant
(missense variant +1 more)
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
(E335Q +5 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(S1093G +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(P1376L +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(P527L +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(R421W +1 more)
Single nucleotide variant
(intron variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(P1124L +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(S1446G +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(A1330V +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(G1317S +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(A1386L +1 more)
Indel
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(E547D +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(D801N +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(L118V +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(A1433G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CUX1
(Y511* +4 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GUncertain significance
CUX1
(Q975H +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(L257* +5 more)
Single nucleotide variant
(nonsense)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1, LOC126860127
+1 more
Translocation
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(A957fs +1 more)
Deletion
(frameshift variant +1 more)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(E936K +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
(E318fs +5 more)
Deletion
(frameshift variant)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(E283* +5 more)
Single nucleotide variant
(nonsense)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(R219S +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(Q145* +4 more)
Single nucleotide variant
(nonsense)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
Deletion
(inframe_deletion +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(E1430fs +1 more)
Duplication
(frameshift variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(T1344I +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(Y1263fs +1 more)
Deletion
(frameshift variant +1 more)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(M1201L +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(W1188* +1 more)
Single nucleotide variant
(nonsense +1 more)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(R1167fs +1 more)
Microsatellite
(frameshift variant +1 more)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
Single nucleotide variant
(splice acceptor variant)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(L559fs +4 more)
Duplication
(frameshift variant)
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
GLikely benign
TAOK1
(A707fs +1 more)
Deletion
(frameshift variant)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(R661* +1 more)
Single nucleotide variant
(nonsense +1 more)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(D497N +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(R1007* +1 more)
Single nucleotide variant
(nonsense +1 more)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
Single nucleotide variant
(splice acceptor variant)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(A1449T +1 more)
Single nucleotide variant
(intron variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(S896I +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
Single nucleotide variant
(splice donor variant)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
Duplication
(intron variant)
Global developmental delay with or without impaired intellectual development
GBenign
CUX1
(A418T +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GBenign
CUX1
Single nucleotide variant
(synonymous variant +1 more)
Global developmental delay with or without impaired intellectual development
GBenign
CUX1
Single nucleotide variant
(synonymous variant)
Global developmental delay with or without impaired intellectual development
GBenign
CUX1
Single nucleotide variant
(intron variant)
Global developmental delay with or without impaired intellectual development
GBenign
CUX1
Single nucleotide variant
(intron variant)
Global developmental delay with or without impaired intellectual development
GBenign
CUX1
Single nucleotide variant
(intron variant)
Global developmental delay with or without impaired intellectual development
GBenign
CUX1, LOC126860126
Single nucleotide variant
(intron variant)
Global developmental delay with or without impaired intellectual development
GBenign
CUX1, LOC126860126
Single nucleotide variant
(intron variant)
Global developmental delay with or without impaired intellectual development
GBenign
CUX1
Single nucleotide variant
(intron variant)
Global developmental delay with or without impaired intellectual development
GBenign
CUX1
(Q612* +1 more)
Single nucleotide variant
(intron variant +1 more)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(G1229S +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(S526fs +1 more)
Deletion
(frameshift variant +1 more)
Neurodevelopmental disorder
+1 more
GPathogenic/Likely pathogenic
CUX1
(R570C +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(R1272* +1 more)
Single nucleotide variant
(nonsense +1 more)
Global developmental delay with or without impaired intellectual development
+1 more
GConflicting classifications of pathogenicity
CUX1, LOC126860126
(V103A +3 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(S857N +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
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
(splice donor variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(Q21*)
Single nucleotide variant
(nonsense)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
Deletion
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(L1251fs +1 more)
Duplication
(frameshift variant +1 more)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(A1067fs +1 more)
Duplication
(frameshift variant +1 more)
Global developmental delay with or without impaired intellectual development
+1 more
GPathogenic/Likely pathogenic
CUX1
(Q873* +1 more)
Single nucleotide variant
(nonsense +1 more)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(Q800fs +1 more)
Deletion
(frameshift variant +1 more)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
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