"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129123	NM_001127644.2(GABRA1):c.156T>C (p.Gly52=)	GABRA1	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 4 +6 more	GBenign
Select item 670652	NM_001127644.2(GABRA1):c.188-42C>T	GABRA1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 670653	NM_001127644.2(GABRA1):c.559+80G>A	GABRA1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2687764	NM_001127644.2(GABRA1):c.701C>T (p.Thr234Ile)	GABRA1 (T234I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 670654	NM_001127644.2(GABRA1):c.703+45T>G	GABRA1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2687760	NM_001127644.2(GABRA1):c.835G>T (p.Val279Leu)	GABRA1 (V279L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 93431	NM_001127644.2(GABRA1):c.1059+15G>A	GABRA1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 19 +5 more	GBenign

ClinVar