"Ambry Genetics"[submitter] AND "GLRA2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100325	NM_002063.4(GLRA2):c.115T>C (p.Ser39Pro)	GLRA2 (S39P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3281626	NM_002063.4(GLRA2):c.191C>A (p.Pro64Gln)	GLRA2 (P64Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613269	NM_002063.4(GLRA2):c.433G>A (p.Val145Ile)	GLRA2 (V145I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232252	NM_002063.4(GLRA2):c.931-18TC[7]	FANCB, GLRA2	Microsatellite (intron variant)	Inborn genetic diseases	GBenign
Select item 3281628	NM_002063.4(GLRA2):c.1010C>T (p.Ala337Val)	FANCB, GLRA2 (A337V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1705404	NM_002063.4(GLRA2):c.1048C>T (p.Arg350Cys)	FANCB, GLRA2 (R261C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2239083	NM_002063.4(GLRA2):c.1081-5G>A	FANCB, GLRA2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3281627	NM_002063.4(GLRA2):c.1091T>A (p.Val364Asp)	FANCB, GLRA2 (V364D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100326	NM_002063.4(GLRA2):c.1162G>C (p.Ala388Pro)	FANCB, GLRA2 (A299P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335008	NM_002063.4(GLRA2):c.1259C>T (p.Thr420Met)	FANCB, GLRA2 (T331M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance