"Revvity Omics, Revvity"[submitter] AND "GABRA1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431995	NM_001127644.2(GABRA1):c.71G>C (p.Arg24Thr)	GABRA1 (R24T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 197167	NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)	GABRA1 (P29S)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +4 more	GConflicting classifications of pathogenicity
Select item 2431993	NM_001127644.2(GABRA1):c.187+8G>A	GABRA1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 951254	NM_001127644.2(GABRA1):c.611G>A (p.Arg204His)	GABRA1 (R204H)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 4 +3 more	GUncertain significance
Select item 265161	NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)	GABRA1 (R214C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2431996	NM_001127644.2(GABRA1):c.730T>C (p.Phe244Leu)	GABRA1 (F244L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 2431994	NM_001127644.2(GABRA1):c.842C>A (p.Ala281Glu)	GABRA1 (A281E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GUncertain significance
Select item 1378537	NM_001127644.2(GABRA1):c.955G>A (p.Val319Met)	GABRA1 (V319M)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 833861	NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val)	GABRA1 (L386V)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +4 more	GConflicting classifications of pathogenicity