"PreventionGenetics, part of Exact Sciences"[submitter] AND "GABRB1"[g - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029793	NM_000812.4(GABRB1):c.33G>T (p.Gly11=)	GABRB1	Single nucleotide variant (synonymous variant)	GABRB1-related disorder	GLikely benign
Select item 2413618	NM_000812.4(GABRB1):c.52A>G (p.Met18Val)	GABRB1 (M18V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2139045	NM_000812.4(GABRB1):c.80+3G>A	GABRB1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1533148	NM_000812.4(GABRB1):c.408G>A (p.Val136=)	GABRB1	Single nucleotide variant (synonymous variant)	GABRB1-related disorder +1 more	GLikely benign
Select item 749074	NM_000812.4(GABRB1):c.414T>C (p.Asn138=)	GABRB1	Single nucleotide variant (synonymous variant)	GABRB1-related disorder +1 more	GLikely benign
Select item 1558483	NM_000812.4(GABRB1):c.462-5A>G	GABRB1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1299345	NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser)	GABRB1 (P253S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 708666	NM_000812.4(GABRB1):c.774A>T (p.Thr258=)	GABRB1	Single nucleotide variant (synonymous variant)	GABRB1-related disorder +1 more	GLikely benign
Select item 788780	NM_000812.4(GABRB1):c.879C>T (p.Leu293=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 769631	NM_000812.4(GABRB1):c.987C>T (p.Tyr329=)	GABRB1	Single nucleotide variant (synonymous variant)	GABRB1-related disorder +1 more	GBenign
Select item 445620	NM_000812.4(GABRB1):c.1263C>G (p.His421Gln)	GABRB1 (H421Q)	Single nucleotide variant (missense variant)	GABRB1-related disorder +1 more	GBenign/Likely benign
Select item 1158070	NM_000812.4(GABRB1):c.1277A>G (p.Lys426Arg)	GABRB1 (K426R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3034090	NM_000812.4(GABRB1):c.1389T>G (p.Leu463=)	GABRB1	Single nucleotide variant (synonymous variant)	GABRB1-related disorder	GLikely benign