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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPP3CA
(S396fs +1 more)
Duplication
(frameshift variant)
Epileptic encephalopathy, infantile or early childhood, 1
GPathogenic
PPP3CA
(S453P +2 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
GUncertain significance
PPP3CA, LOC129992871
Indel
(intron variant)
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
+1 more
GBenign
PPP3CA
(S375fs +1 more)
Deletion
(frameshift variant)
Epileptic encephalopathy, infantile or early childhood, 1
GPathogenic
PPP3CA
(A177G)
Single nucleotide variant
(missense variant)
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
+1 more
GLikely pathogenic
PPP3CA
(R254S)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
GPathogenic
PPP3CA
Single nucleotide variant
(intron variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GLikely benign
PPP3CA
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GBenign/Likely benign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
PPP3CA
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LOC123477793, PPP3CA
Duplication
(intron variant)
not provided
+2 more
GBenign/Likely benign
PPP3CA
Single nucleotide variant
(synonymous variant)
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
+2 more
GLikely benign
PPP3CA
Single nucleotide variant
(intron variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GBenign/Likely benign
PPP3CA
Single nucleotide variant
(synonymous variant)
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
+2 more
GBenign/Likely benign
PPP3CA
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PPP3CA
Single nucleotide variant
(intron variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GBenign/Likely benign
PPP3CA
Deletion
(intron variant)
not provided
+3 more
GLikely benign
PPP3CA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
PPP3CA
(R468Q +2 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GUncertain significance
PPP3CA
(T380M +1 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
+3 more
GUncertain significance
PPP3CA
(N513S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PPP3CA
(R42H)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GUncertain significance
PPP3CA
(K219R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PPP3CA
(I277V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PPP3CA
(S12fs)
Deletion
(frameshift variant)
Epileptic encephalopathy, infantile or early childhood, 1
GLikely pathogenic
PPP3CA
Single nucleotide variant
(intron variant)
Epileptic encephalopathy, infantile or early childhood, 1
GUncertain significance
PPP3CA
Single nucleotide variant
(intron variant)
Epileptic encephalopathy, infantile or early childhood, 1
GUncertain significance
PPP3CA
(S392fs +1 more)
Duplication
(frameshift variant)
Epileptic encephalopathy, infantile or early childhood, 1
GPathogenic
PPP3CA
(T387fs +1 more)
Duplication
(frameshift variant)
Epileptic encephalopathy, infantile or early childhood, 1
+2 more
GPathogenic/Likely pathogenic
PPP3CA
(D493N +2 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
GLikely pathogenic
PPP3CA
(S438fs +1 more)
Deletion
(frameshift variant)
Epileptic encephalopathy, infantile or early childhood, 1
GPathogenic
PPP3CA
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
PPP3CA
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy, infantile or early childhood, 1
+3 more
GBenign/Likely benign
PPP3CA
(M431fs +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
(S377fs +1 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic
PPP3CA
(E282K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PPP3CA
(H281Q)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
GLikely pathogenic
PPP3CA
(A447T +1 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 1
+1 more
GPathogenic
PPP3CA
(H92R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
PPP3CA
(Q445* +1 more)
Single nucleotide variant
(nonsense)
Epileptic encephalopathy, infantile or early childhood, 1
GPathogenic
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