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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998788, LOC129998789
+227 more
Copy number loss
See cases
GPathogenic
ABCB1, ABCB4
+78 more
Copy number loss
See cases
GLikely pathogenic
CDK14, CFAP69
+30 more
Copy number gain
See cases
GUncertain significance
CDK14, CFAP69
+28 more
Copy number gain
See cases
GUncertain significance
CDK14, LOC123956176
+7 more
Copy number gain
See cases
GLikely benign
CDK14, LOC129998778
+4 more
Copy number loss
See cases
GUncertain significance
CDK14
(G14S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK14
(M1T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDK14
(V12M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CDK14
(T33A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK14
(N56D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK14
(R71W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK14
(S102N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(F83C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK14
(S127T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK14, LOC129998782
Copy number loss
See cases
GLikely benign
CDK14
(I193V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(T205M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(T249M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(M315V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(M317T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(M206I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(D211H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(R241C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(R370S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(S246G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(Q252E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(Y259C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDK14
(D265E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(R406W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14
(S467N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14, CFAP69
+5 more
Copy number gain
not provided
GUncertain significance
CDK14
Copy number loss
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ABCB1, ABCB4
+50 more
Copy number gain
not specified
GPathogenic
CDK14
Copy number loss
not provided
GLikely benign
ATP5MF-PTCD1, AZGP1
+127 more
Copy number gain
Isolated Pierre-Robin syndrome
+1 more
GPathogenic
CDK14
Copy number loss
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
CDK14
Copy number loss
not provided
GUncertain significance
CACNA2D1, ERVW-1
+91 more
Deletion
not provided
GUncertain significance
CDK14, FZD1
Copy number loss
Delayed speech and language development
+4 more
GUncertain significance
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
STEAP4, TEX47
+11 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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