"Ambry Genetics"[submitter] AND "GABRB2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 864042	NM_001371727.1(GABRB2):c.1513G>A (p.Val505Ile)	GABRB2 (V467I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 386175	NM_001371727.1(GABRB2):c.1383G>A (p.Ala461=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 383240	NM_001371727.1(GABRB2):c.1349G>A (p.Ser450Asn)	GABRB2 (S450N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1058426	NM_001371727.1(GABRB2):c.862A>G (p.Ile288Val)	GABRB2 (I288V)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 1043005	NM_001371727.1(GABRB2):c.663G>C (p.Lys221Asn)	GABRB2 (K221N)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 521465	NM_001371727.1(GABRB2):c.626A>C (p.Gln209Pro)	GABRB2 (Q209P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 451517	NM_001371727.1(GABRB2):c.422G>A (p.Arg141His)	GABRB2 (R141H)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GUncertain significance
Select item 2277152	NM_001371727.1(GABRB2):c.394G>T (p.Gly132Ter)	GABRB2 (G132*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2556123	NM_001371727.1(GABRB2):c.238G>C (p.Asp80His)	GABRB2 (D80H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3097828	NM_001371727.1(GABRB2):c.97A>G (p.Met33Val)	GABRB2 (M33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1302523	NM_001371727.1(GABRB2):c.58G>A (p.Ala20Thr)	GABRB2 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance