"Ambry Genetics"[submitter] AND "SNTB2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2569530	NM_006750.4(SNTB2):c.16G>C (p.Ala6Pro)	SNTB2 (A6P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209460	NM_006750.4(SNTB2):c.20C>T (p.Thr7Ile)	SNTB2 (T7I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590501	NM_006750.4(SNTB2):c.57G>C (p.Trp19Cys)	SNTB2 (W19C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589476	NM_006750.4(SNTB2):c.229G>T (p.Gly77Cys)	SNTB2 (G77C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407373	NM_006750.4(SNTB2):c.272T>G (p.Leu91Arg)	SNTB2 (L91R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257819	NM_006750.4(SNTB2):c.283A>C (p.Ser95Arg)	SNTB2 (S95R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523005	NM_006750.4(SNTB2):c.614A>C (p.Lys205Thr)	SNTB2 (K205T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623249	NM_006750.4(SNTB2):c.658C>A (p.Pro220Thr)	SNTB2 (P220T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457403	NM_006750.4(SNTB2):c.698C>T (p.Ser233Leu)	SNTB2 (S233L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254465	NM_006750.4(SNTB2):c.708C>A (p.His236Gln)	SNTB2 (H236Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337103	NM_006750.4(SNTB2):c.842G>A (p.Arg281His)	SNTB2 (R281H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560874	NM_006750.4(SNTB2):c.877G>A (p.Val293Ile)	SNTB2 (V293I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295470	NM_006750.4(SNTB2):c.964G>A (p.Gly322Ser)	SNTB2 (G322S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332453	NM_006750.4(SNTB2):c.1193C>G (p.Ser398Cys)	SNTB2 (S398C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518715	NM_006750.4(SNTB2):c.1267C>T (p.Arg423Trp)	SNTB2 (R423W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359852	NM_006750.4(SNTB2):c.1322A>T (p.Glu441Val)	SNTB2 (E441V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219543	NM_006750.4(SNTB2):c.1595A>G (p.Lys532Arg)	SNTB2 (K532R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394154	NM_006750.4(SNTB2):c.1604G>A (p.Arg535His)	SNTB2 (R535H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance