"GABRA1-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205513	NM_001127644.2(GABRA1):c.-4C>T	GABRA1	Single nucleotide variant (5 prime UTR variant)	GABRA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 196289	NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu)	GABRA1 (D9E)	Single nucleotide variant (missense variant)	GABRA1-related condition +6 more	GBenign/Likely benign
Select item 137410	NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)	GABRA1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +6 more	GConflicting classifications of pathogenicity
Select item 3029442	NM_001127644.2(GABRA1):c.608C>A (p.Ala203Glu)	GABRA1 (A203E)	Single nucleotide variant (missense variant)	GABRA1-related condition	GUncertain significance
Select item 2633263	NM_001127644.2(GABRA1):c.793G>T (p.Val265Leu)	GABRA1 (V265L)	Single nucleotide variant (missense variant)	GABRA1-related condition	GUncertain significance
Select item 3040416	NM_001127644.2(GABRA1):c.857-10_857-9dup	GABRA1	Duplication (intron variant)	GABRA1-related condition	GLikely benign
Select item 1601417	NM_001127644.2(GABRA1):c.857-3C>T	GABRA1	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 4 +3 more	GBenign/Likely benign
Select item 137414	NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)	GABRA1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +6 more	GConflicting classifications of pathogenicity
Select item 944837	NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu)	GABRA1 (K398E)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +3 more	GConflicting classifications of pathogenicity