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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLCB1
(S236N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLCB1
(Q272R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLCB1
(A1046T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
+1 more
GUncertain significance
PLCB1
(A1116V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLCB1
(E1202D)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 12
+2 more
GUncertain significance
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