"Ambry Genetics"[submitter] AND "RBM23"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2558539	NM_001077351.2(RBM23):c.1297C>T (p.Leu433Phe)	RBM23 (L477F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152259	NM_001077351.2(RBM23):c.1259C>T (p.Ala420Val)	RBM23 (A250V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289944	NM_001077351.2(RBM23):c.1220G>A (p.Gly407Glu)	RBM23 (G237E +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2224172	NM_001077351.2(RBM23):c.1037G>T (p.Gly346Val)	RBM23 (G330V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313248	NM_001077351.2(RBM23):c.1022A>C (p.Glu341Ala)	RBM23 (E171A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248250	NM_001077351.2(RBM23):c.1004G>C (p.Arg335Thr)	RBM23 (R379T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508684	NM_001077351.2(RBM23):c.975T>G (p.Asn325Lys)	RBM23 (N291K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569549	NM_001077351.2(RBM23):c.955C>T (p.Arg319Trp)	RBM23 (R319W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338945	NM_001077351.2(RBM23):c.905G>A (p.Arg302His)	RBM23 (R132H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403219	NM_001077351.2(RBM23):c.904C>T (p.Arg302Cys)	RBM23 (R286C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538998	NM_001077351.2(RBM23):c.899C>T (p.Thr300Ile)	RBM23 (T284I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277629	NM_001077351.2(RBM23):c.863A>G (p.Lys288Arg)	RBM23 (K118R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402388	NM_001077351.2(RBM23):c.776A>G (p.Asn259Ser)	RBM23 (N243S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152267	NM_001077351.2(RBM23):c.755C>G (p.Ala252Gly)	RBM23 (A296G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462686	NM_001077351.2(RBM23):c.752T>A (p.Met251Lys)	RBM23 (M217K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313246	NM_001077351.2(RBM23):c.709A>G (p.Ile237Val)	RBM23 (I221V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261504	NM_001077351.2(RBM23):c.661C>G (p.Pro221Ala)	RBM23 (P187A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152266	NM_001077351.2(RBM23):c.589A>G (p.Ile197Val)	RBM23 (I181V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343090	NM_001077351.2(RBM23):c.580G>A (p.Asp194Asn)	RBM23 (D24N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469696	NM_001077351.2(RBM23):c.539G>A (p.Arg180Gln)	RBM23 (R180Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152265	NM_001077351.2(RBM23):c.533G>A (p.Arg178Gln)	RBM23 (R162Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152264	NM_001077351.2(RBM23):c.493G>T (p.Ala165Ser)	RBM23 (A149S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468972	NM_001077351.2(RBM23):c.488G>A (p.Arg163His)	RBM23 (R163H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313247	NM_001077351.2(RBM23):c.359G>A (p.Arg120His)	RBM23 (R104H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2367304	NM_001077351.2(RBM23):c.358C>T (p.Arg120Cys)	RBM23 (R104C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328617	NM_001077351.2(RBM23):c.355C>T (p.Arg119Cys)	RBM23 (R163C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313245	NM_001077351.2(RBM23):c.346C>T (p.Arg116Trp)	RBM23 (R100W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152263	NM_001077351.2(RBM23):c.341G>A (p.Arg114Gln)	RBM23 (R98Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622857	NM_001077351.2(RBM23):c.326A>C (p.His109Pro)	RBM23 (H93P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152262	NM_001077351.2(RBM23):c.323G>A (p.Arg108Gln)	RBM23 (R92Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616294	NM_001077351.2(RBM23):c.313T>C (p.Trp105Arg)	RBM23 (W149R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217732	NM_001077351.2(RBM23):c.302G>A (p.Arg101His)	RBM23 (R85H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547770	NM_001077351.2(RBM23):c.301C>T (p.Arg101Cys)	RBM23 (R101C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152260	NM_001077351.2(RBM23):c.248G>A (p.Arg83Gln)	RBM23 (R67Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533402	NM_001077351.2(RBM23):c.247C>T (p.Arg83Trp)	RBM23 (R67W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538006	NM_001077351.2(RBM23):c.223C>T (p.Arg75Cys)	RBM23 (R75C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476033	NM_001077351.2(RBM23):c.212G>T (p.Arg71Met)	RBM23 (R71M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226897	NM_001077351.2(RBM23):c.140A>G (p.Asn47Ser)	RBM23 (N47S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3313251	NM_001077351.2(RBM23):c.83A>C (p.Lys28Thr)	RBM23 (K72T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389284	NM_001077351.2(RBM23):c.68A>T (p.Asp23Val)	RBM23 (D67V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358476	NM_001077351.2(RBM23):c.64G>C (p.Glu22Gln)	RBM23 (E22Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152261	NM_001077351.2(RBM23):c.31G>A (p.Glu11Lys)	RBM23 (E55K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 42