"3billion"[submitter] AND "GABRB2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973184	NM_001371727.1(GABRB2):c.754C>A (p.Pro252Thr)	GABRB2 (P252T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 92	GLikely pathogenic
Select item 1333488	NM_001371727.1(GABRB2):c.627G>T (p.Gln209His)	GABRB2 (Q209H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 92	GLikely pathogenic