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Items: 1 to 100 of 450

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129992850, LOC129992851
+123 more
Copy number loss
See cases
GPathogenic
ABHD18, ADAD1
+661 more
Copy number gain
See cases
GPathogenic
FLJ20021, LINC01216
+19 more
Copy number loss
See cases
GUncertain significance
PPP3CA
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
PPP3CA
Deletion
(3 prime UTR variant)
not provided
GBenign
PPP3CA
Deletion
(3 prime UTR variant)
not provided
GBenign
PPP3CA
Deletion
(3 prime UTR variant)
not provided
GBenign
PPP3CA
Single nucleotide variant
(3 prime UTR variant)
PPP3CA-related disorder
GBenign
PPP3CA
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(I468M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(I520S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(S466del +2 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(S463N +2 more)
Single nucleotide variant
(missense variant)
Developmental disorder
GLikely benign
PPP3CA
Duplication
(inframe_insertion)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(N461fs +2 more)
Duplication
(frameshift variant)
Autism spectrum disorder
GLikely benign
PPP3CA
(N513S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(T458M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(T510S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PPP3CA
(G457S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(S453P +2 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
Duplication
(inframe_insertion)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(S446T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(N445K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP3CA
(N487I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(N497Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(N485S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(A442T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(A442S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(D493N +2 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
GLikely pathogenic
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(M438T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(R434H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
Duplication
(inframe_insertion)
not provided
GUncertain significance
PPP3CA
(R468Q +2 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GLikely benign
PPP3CA
(L424S +2 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PPP3CA
(K422T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(A421S +2 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
GPathogenic
PPP3CA
(A473T +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(E419K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(F418L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(F470L +2 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
GPathogenic
PPP3CA
(K466T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
(H413fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PPP3CA
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GLikely benign
PPP3CA
(P411R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy, infantile or early childhood, 1
+3 more
GBenign/Likely benign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP3CA
(E456K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPP3CA
(E456*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PPP3CA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
PPP3CA
(A454S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPP3CA
(I452V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PPP3CA
(A451V)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PPP3CA
(T448fs)
Deletion
(frameshift variant +1 more)
PPP3CA-related disorder
GLikely pathogenic
PPP3CA
Single nucleotide variant
(intron variant +1 more)
not provided
GPathogenic
PPP3CA
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GPathogenic/Likely pathogenic
PPP3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP3CA
Deletion
(intron variant)
not provided
GBenign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC123477793, PPP3CA
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC123477793, PPP3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC123477793, PPP3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC123477793, PPP3CA
Duplication
(intron variant)
not provided
+2 more
GBenign/Likely benign
LOC123477793, PPP3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP3CA
(A447T +1 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
+1 more
GPathogenic
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(Q445* +1 more)
Single nucleotide variant
(nonsense)
Epileptic encephalopathy, infantile or early childhood, 1
GPathogenic
PPP3CA
(S438fs +1 more)
Deletion
(frameshift variant)
Epileptic encephalopathy, infantile or early childhood, 1
GPathogenic
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(S396fs +1 more)
Duplication
(frameshift variant)
Epileptic encephalopathy, infantile or early childhood, 1
GPathogenic
PPP3CA
(S438fs +1 more)
Duplication
(frameshift variant)
Epileptic encephalopathy, infantile or early childhood, 1
GPathogenic
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(S434R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP3CA
(S392T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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