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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLCB1
(T39I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
GUncertain significance
PLCB1
(V571M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
GUncertain significance
PLCB1
(K825R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
GUncertain significance
PLCB1
(R1032Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PLCB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
PLCB1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 12
GUncertain significance
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