"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KCNB1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 390369	NM_004975.4(KCNB1):c.2364G>A (p.Thr788=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 384973	NM_004975.4(KCNB1):c.2334C>T (p.Leu778=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +2 more	GBenign
Select item 385907	NM_004975.4(KCNB1):c.1389T>A (p.Ile463=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +2 more	GBenign/Likely benign
Select item 420881	NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)	KCNB1 (R433*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1199933	NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu)	KCNB1 (G379E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GPathogenic/Likely pathogenic
Select item 385726	NM_004975.4(KCNB1):c.51G>A (p.Pro17=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +1 more	GLikely benign

ClinVar