BEX2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133759	NM_032621.4(BEX2):c.381G>T (p.Met127Ile)	BEX2 (M159I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133758	NM_032621.4(BEX2):c.377T>C (p.Leu126Pro)	BEX2 (L126P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133757	NM_032621.4(BEX2):c.253A>G (p.Met85Val)	BEX2 (M116V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376075	NM_032621.4(BEX2):c.202G>C (p.Asp68His)	BEX2 (D68H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661093	NM_032621.4(BEX2):c.194A>G (p.Tyr65Cys)	BEX2 (Y65C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3133756	NM_032621.4(BEX2):c.175A>G (p.Arg59Gly)	BEX2 (R59G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133755	NM_032621.4(BEX2):c.169C>T (p.Arg57Cys)	BEX2 (R88C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133753	NM_032621.4(BEX2):c.157C>T (p.Arg53Cys)	BEX2 (R85C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533894	NM_032621.4(BEX2):c.157C>A (p.Arg53Ser)	BEX2 (R53S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780714	NM_032621.4(BEX2):c.94A>G (p.Asn32Asp)	BEX2 (N64D +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2489614	NM_032621.4(BEX2):c.19C>G (p.Arg7Gly)	BEX2 (R38G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133751	NM_032621.4(BEX2):c.16G>A (p.Glu6Lys)	BEX2 (E38K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661094	NM_032621.4(BEX2):c.-7A>G	BEX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 931608	NM_032621.4(BEX2):c.-9C>A	BEX2 (P30T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2213689	NM_032621.4(BEX2):c.-12G>A	BEX2 (G28S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 208895	NM_032621.4(BEX2):c.-65G>A	BEX2 (C11Y +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 3133754	NM_032621.4(BEX2):c.-72G>A	BEX2 (A9T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133752	NM_032621.4(BEX2):c.-75G>C	BEX2 (G7R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance