"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PLCB1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 567284	NM_015192.4(PLCB1):c.116C>T (p.Thr39Ile)	PLCB1 (T39I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 538884	NM_015192.4(PLCB1):c.1711G>A (p.Val571Met)	PLCB1 (V571M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 538885	NM_015192.4(PLCB1):c.2474A>G (p.Lys825Arg)	PLCB1 (K825R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 538880	NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln)	PLCB1 (R1032Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +2 more	GUncertain significance
Select item 129911	NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +3 more	GBenign/Likely benign
Select item 856933	NM_015192.4(PLCB1):c.3336+3A>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance

ClinVar