"Revvity Omics, Revvity"[submitter] AND "GABRB3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447364	NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu)	GABRB3 (P422L +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 1324443	NM_000814.6(GABRB3):c.914C>T (p.Ala305Val)	GABRB3 (A220V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GLikely pathogenic
Select item 16190	NM_000814.6(GABRB3):c.650G>A (p.Arg217His)	GABRB3 (R132H +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43 +3 more	GConflicting classifications of pathogenicity
Select item 1205481	NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln)	GABRB3 (R109Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 537293	NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr)	GABRB3 (A98T +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 5 +2 more	GUncertain significance
Select item 1170843	NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg)	GABRB3 (G7R)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 43 +3 more	GBenign/Likely benign

ClinVar