"Ambry Genetics"[submitter] AND "RSBN1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2377321	NM_018364.5(RSBN1):c.2395A>G (p.Thr799Ala)	RSBN1 (T799A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550244	NM_018364.5(RSBN1):c.2314C>G (p.Gln772Glu)	RSBN1 (Q772E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354703	NM_018364.5(RSBN1):c.2253G>C (p.Gln751His)	RSBN1 (Q751H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519333	NM_018364.5(RSBN1):c.2141C>G (p.Thr714Arg)	RSBN1 (T714R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548474	NM_018364.5(RSBN1):c.2105A>G (p.Lys702Arg)	RSBN1 (K702R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312400	NM_018364.5(RSBN1):c.2072C>T (p.Ala691Val)	RSBN1 (A691V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296540	NM_018364.5(RSBN1):c.1745A>G (p.His582Arg)	RSBN1 (H582R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484975	NM_018364.5(RSBN1):c.1396T>A (p.Cys466Ser)	RSBN1 (C466S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244552	NM_018364.5(RSBN1):c.1346A>G (p.Glu449Gly)	RSBN1 (E449G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335017	NM_018364.5(RSBN1):c.1159G>A (p.Glu387Lys)	RSBN1 (E387K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353827	NM_018364.5(RSBN1):c.1022A>G (p.Gln341Arg)	RSBN1 (Q341R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331553	NM_018364.5(RSBN1):c.901A>G (p.Thr301Ala)	RSBN1 (T301A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323554	NM_018364.5(RSBN1):c.841G>A (p.Val281Ile)	RSBN1 (V281I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320180	NM_018364.5(RSBN1):c.831A>T (p.Glu277Asp)	RSBN1 (E277D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306345	NM_018364.5(RSBN1):c.811C>T (p.Leu271Phe)	RSBN1 (L271F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241501	NM_018364.5(RSBN1):c.638A>C (p.His213Pro)	RSBN1 (H213P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488978	NM_018364.5(RSBN1):c.488C>T (p.Pro163Leu)	RSBN1 (P163L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276385	NM_018364.5(RSBN1):c.466C>T (p.Pro156Ser)	RSBN1 (P156S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520042	NM_018364.5(RSBN1):c.395C>T (p.Pro132Leu)	RSBN1 (P132L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300716	NM_018364.5(RSBN1):c.130G>A (p.Val44Met)	RSBN1 (V44M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311959	NM_018364.5(RSBN1):c.127T>C (p.Cys43Arg)	RSBN1 (C43R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461805	NM_018364.5(RSBN1):c.33G>C (p.Lys11Asn)	RSBN1 (K11N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235890	NM_018364.5(RSBN1):c.11C>A (p.Ser4Tyr)	RSBN1 (S4Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 23