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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPP2R5D
(P53S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Hogue-Janssens syndrome 1
GPathogenic
PPP2R5D
(E197K +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MEA1, PPP2R5D
(E198K +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic
PPP2R5D
(E200K +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PPP2R5D
(P201R +3 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PPP2R5D
(W207R +3 more)
Single nucleotide variant
(missense variant)
Hogue-Janssens syndrome 1
GPathogenic
PPP2R5D
(E420K +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic
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