"Revvity Omics, Revvity"[submitter] AND "GABRB2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432005	NM_001371727.1(GABRB2):c.1292T>C (p.Met431Thr)	GABRB2 (M393T +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance
Select item 2432008	NM_001371727.1(GABRB2):c.1279C>G (p.Pro427Ala)	GABRB2 (P389A +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance
Select item 2432004	NM_001371727.1(GABRB2):c.1049A>G (p.Asn350Ser)	GABRB2 (N350S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance
Select item 949052	NM_001371727.1(GABRB2):c.860C>T (p.Thr287Ile)	GABRB2 (T287I)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 2432006	NM_001371727.1(GABRB2):c.255G>A (p.Met85Ile)	GABRB2 (M85I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance
Select item 2432007	NM_001371727.1(GABRB2):c.250A>T (p.Thr84Ser)	GABRB2 (T84S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance

ClinVar