"PreventionGenetics, part of Exact Sciences"[submitter] AND "GABRA2"[g - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038829	NM_000807.4(GABRA2):c.*2T>A	GABRA2	Single nucleotide variant (3 prime UTR variant)	GABRA2-related disorder	GBenign
Select item 2630020	NM_000807.4(GABRA2):c.1214C>T (p.Ala405Val)	GABRA2 (A350V +3 more)	Single nucleotide variant (missense variant)	GABRA2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2189132	NM_000807.4(GABRA2):c.1077C>T (p.Ser359=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1614601	NM_000807.4(GABRA2):c.1059+5658C>T	GABRA2 (P334L +1 more)	Single nucleotide variant (missense variant +1 more)	GABRA2-related disorder +1 more	GLikely benign
Select item 1641539	NM_000807.4(GABRA2):c.1059+10A>G	GABRA2 (S357G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2635567	NM_000807.4(GABRA2):c.883A>T (p.Thr295Ser)	GABRA2 (T240S +1 more)	Single nucleotide variant (missense variant)	GABRA2-related disorder	GLikely pathogenic
Select item 2186329	NM_000807.4(GABRA2):c.576A>G (p.Ser192=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2961983	NM_000807.4(GABRA2):c.560-3T>C	GABRA2	Single nucleotide variant (intron variant)	GABRA2-related disorder +1 more	GBenign/Likely benign
Select item 3046650	NM_000807.4(GABRA2):c.471C>A (p.Thr157=)	GABRA2	Single nucleotide variant (synonymous variant)	GABRA2-related disorder	GLikely benign
Select item 1168077	NM_000807.4(GABRA2):c.396A>G (p.Lys132=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1600763	NM_000807.4(GABRA2):c.256-8dup	GABRA2	Duplication (intron variant)	GABRA2-related disorder +1 more	GBenign/Likely benign
Select item 1168078	NM_000807.4(GABRA2):c.188-3T>C	GABRA2	Single nucleotide variant (intron variant)	GABRA2-related disorder +1 more	GBenign
Select item 2155349	NM_000807.4(GABRA2):c.129G>A (p.Thr43=)	GABRA2 (R11Q)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1980196	NM_000807.4(GABRA2):c.26A>G (p.Asn9Ser)	GABRA2 (N9S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity