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Links from Gene

Items: 1 to 100 of 446

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUX1
(G698V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(P1406L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(P423R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(D1320E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(D1473N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1, LOC126860126
(Q116* +3 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
CUX1
(S420N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(A1426fs +1 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
GLikely pathogenic
CUX1
(S875W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(P929L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(P1428A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(P782L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(Q612H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(K566* +1 more)
Single nucleotide variant
(nonsense +1 more)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
Copy number loss
not provided
GLikely pathogenic
CUX1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CUX1
(N959K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(R1325C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(R495C +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(N1142H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(S747C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(S1436fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
CUX1
(A571V +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CUX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUX1
(E620K +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUX1
Duplication
(inframe_insertion +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(K1068fs +1 more)
Deletion
(frameshift variant +1 more)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(F539fs +4 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
CUX1
(V27I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(P1269L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(N284I +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
(E968G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
Single nucleotide variant
(splice donor variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(E202V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CUX1
Duplication
not specified
GUncertain significance
CUX1
(M939L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(R592Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(N135D +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
(P29L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CUX1
(D1419G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(Q490R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
CUX1
(W824R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(F41L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(D1385Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126860126, CUX1
(L106M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(E146Q +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
(R8S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(A1316K +1 more)
Indel
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(V1249M +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(E904K +1 more)
Single nucleotide variant
(missense 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
(D1336G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
Microsatellite
(intron variant)
not provided
GUncertain significance
CUX1
(T1285I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(A1438P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(S552G +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
(R867H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(T1285S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
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
(P512T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
(G575R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(N437K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
Single nucleotide variant
(splice acceptor variant)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(H420Q +4 more)
Single nucleotide variant
(missense variant)
CUX1-related disorder
GUncertain significance
CUX1
(G6R)
Single nucleotide variant
(missense variant)
CUX1-related disorder
GUncertain significance
CUX1
(F1149C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(I38V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
(G543R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CUX1
(T167I +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
(Y935H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CUX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CUX1
(R902H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CUX1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
CUX1
(Q313* +5 more)
Single nucleotide variant
(nonsense)
Global developmental delay with or without impaired intellectual development
GLikely pathogenic
CUX1
(E113A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CUX1
(L1413V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
CUX1, LOC126860126
Single nucleotide variant
(splice acceptor variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(G1404R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(Q444* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
CUX1
(P1417L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
(P1451S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CUX1
Copy number loss
not provided
GPathogenic
CUX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CUX1
(D534N +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUX1
Single nucleotide variant
(splice acceptor variant)
Global developmental delay with or without impaired intellectual development
GUncertain significance
CUX1
(Q685* +1 more)
Single nucleotide variant
(nonsense +1 more)
Global developmental delay with or without impaired intellectual development
GPathogenic
CUX1
(R680K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CUX1
(S224L +4 more)
Single nucleotide variant
(missense variant)
not provided
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
(T1380I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(P1057fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
CUX1
(A1410N +1 more)
Indel
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(A428V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(M532V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CUX1
(R542W +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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