"Ambry Genetics"[submitter] AND "RBM10"[gene] - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2219121	NM_005676.5(RBM10):c.115A>G (p.Met39Val)	RBM10 (M39V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2105513	NM_005676.5(RBM10):c.133C>A (p.Pro45Thr)	RBM10 (P45T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2607793	NM_005676.5(RBM10):c.189G>T (p.Glu63Asp)	RBM10 (E128D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1998793	NM_005676.5(RBM10):c.218C>T (p.Ser73Phe)	RBM10 (S138F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2512355	NM_005676.5(RBM10):c.221C>T (p.Pro74Leu)	RBM10 (P74L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2164115	NM_005676.5(RBM10):c.242GGC[4] (p.Arg85del)	RBM10 (R150del +1 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2184334	NM_005676.5(RBM10):c.251G>A (p.Arg84Gln)	RBM10 (R149Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2012902	NM_005676.5(RBM10):c.274G>A (p.Gly92Ser)	RBM10 (G157S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 432653	NM_005676.5(RBM10):c.457G>A (p.Gly153Ser)	RBM10 (G153S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2286950	NM_005676.5(RBM10):c.773T>C (p.Leu258Pro)	LOC126863252, RBM10 (L181P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2229177	NM_005676.5(RBM10):c.918C>G (p.Asn306Lys)	RBM10 (N371K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520756	NM_005676.5(RBM10):c.1100A>C (p.His367Pro)	RBM10 (H367P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 428617	NM_005676.5(RBM10):c.1352_1353del (p.Glu451fs)	RBM10 (E373fs +4 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 522056	NM_005676.5(RBM10):c.1473_1474del (p.Ser492fs)	RBM10 (S414fs +4 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2283602	NM_005676.5(RBM10):c.2125A>C (p.Thr709Pro)	RBM10 (T709P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2074702	NM_005676.5(RBM10):c.2177G>A (p.Arg726Gln)	RBM10 (R649Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2323105	NM_005676.5(RBM10):c.2431-3C>A	RBM10	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2339651	NM_005676.5(RBM10):c.2726C>G (p.Thr909Ser)	RBM10 (T908S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269660	NM_005676.5(RBM10):c.2755C>T (p.His919Tyr)	RBM10 (H842Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance