U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPP2R1A
(A410T +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 2
+1 more
GUncertain significance
PPP2R1A
(R319L +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 2
GLikely pathogenic
PPP2R1A
(V291A +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 2
GUncertain significance
PPP2R1A
(D103fs +1 more)
Duplication
(frameshift variant +1 more)
Houge-Janssens syndrome 2
GPathogenic
PPP2R1A
(I32M)
Single nucleotide variant
(5 prime UTR variant +2 more)
Houge-Janssens syndrome 2
GLikely pathogenic
PPP2R1A
Single nucleotide variant
(5 prime UTR variant +2 more)
Houge-Janssens syndrome 2
GUncertain significance
PPP2R1A
(A251T +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 2
GUncertain significance
PPP2R1A
(N315fs +1 more)
Deletion
(frameshift variant +1 more)
Houge-Janssens syndrome 2
GUncertain significance
PPP2R1A
(T178A)
Single nucleotide variant
(5 prime UTR variant +2 more)
Houge-Janssens syndrome 2
GLikely pathogenic
PPP2R1A
(R113W)
Single nucleotide variant
(5 prime UTR variant +2 more)
Houge-Janssens syndrome 2
GUncertain significance
PPP2R1A
(P179H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Houge-Janssens syndrome 2
GLikely pathogenic
PPP2R1A
(S159A)
Single nucleotide variant
(5 prime UTR variant +2 more)
Houge-Janssens syndrome 2
GUncertain significance
PPP2R1A
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
PPP2R1A
(I115V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
PPP2R1A
(M180V +1 more)
Single nucleotide variant
(missense variant +2 more)
Houge-Janssens syndrome 2
+1 more
GPathogenic
PPP2R1A
(R144C)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PPP2R1A
(V259I +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 2
GUncertain significance
PPP2R1A
(V436M +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 2
GUncertain significance
PPP2R1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Houge-Janssens syndrome 2
GUncertain significance
PPP2R1A
(D5E)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 2
GUncertain significance
PPP2R1A
(P92L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Houge-Janssens syndrome 2
+1 more
GConflicting classifications of pathogenicity
PPP2R1A
(E118K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PPP2R1A
(S219P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
PPP2R1A
(A252T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PPP2R1A
(M180T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
PPP2R1A
(S219L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
PPP2R1A
(R183Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 2
+1 more
GConflicting classifications of pathogenicity
PPP2R1A
(R183W +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 2
+1 more
GPathogenic/Likely pathogenic
PPP2R1A
(R258H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+11 more
GPathogenic/Likely pathogenic
PPP2R1A
(P179L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GPathogenic
PPP2R1A
(R182W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
PPP2R1A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination