"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1329095	NM_001134363.3(RBM20):c.4G>T (p.Val2Leu)	RBM20 (V2L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 836204	NM_001134363.3(RBM20):c.5T>C (p.Val2Ala)	RBM20 (V2A)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 386030	NM_001134363.3(RBM20):c.57G>T (p.Pro19=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +3 more	GConflicting classifications of pathogenicity
Select item 44029	NM_001134363.3(RBM20):c.90G>A (p.Arg30=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign
Select item 43970	NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)	RBM20	Microsatellite (inframe_insertion)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 721298	NM_001134363.3(RBM20):c.135G>C (p.Pro45=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 43974	NM_001134363.3(RBM20):c.150A>T (p.Pro50=)	RBM20	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 202052	NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)	RBM20 (S75L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2691237	NM_001134363.3(RBM20):c.259G>A (p.Ala87Thr)	RBM20 (A87T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 416819	NM_001134363.3(RBM20):c.348C>T (p.Ala116=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 44018	NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)	RBM20 (A150T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 579014	NM_001134363.3(RBM20):c.485C>T (p.Thr162Ile)	RBM20 (T162I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 44020	NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr)	RBM20 (P173T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 44021	NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)	RBM20 (T177S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 44024	NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)	RBM20 (T177I)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 179552	NM_001134363.3(RBM20):c.536G>A (p.Gly179Asp)	RBM20 (G179D)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 44022	NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)	RBM20 (P182T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 178111	NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)	RBM20 (G227V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +5 more	GConflicting classifications of pathogenicity
Select item 1329096	NM_001134363.3(RBM20):c.688G>T (p.Glu230Ter)	RBM20 (E230*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GUncertain significance
Select item 44025	NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp)	RBM20 (G232D)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 298787	NM_001134363.3(RBM20):c.717A>T (p.Thr239=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 1265583	NM_001134363.3(RBM20):c.762G>A (p.Ser254=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 44028	NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)	RBM20 (G284R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 915668	NM_001134363.3(RBM20):c.917G>C (p.Ser306Thr)	RBM20 (S306T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691240	NM_001134363.3(RBM20):c.928_935dup (p.Gln313fs)	RBM20 (Q313fs)	Duplication (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 298791	NM_001134363.3(RBM20):c.1053C>T (p.Asp351=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 2691234	NM_001134363.3(RBM20):c.1107C>T (p.Asn369=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 298792	NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg)	RBM20 (G379R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 416824	NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43966	NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 758939	NM_001134363.3(RBM20):c.1221C>A (p.Pro407=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 180056	NM_001134363.3(RBM20):c.1275+8G>T	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD +3 more	GLikely benign
Select item 43969	NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)	RBM20 (L429P)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43971	NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)	RBM20 (S455L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 378472	NM_001134363.3(RBM20):c.1378T>C (p.Leu460=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +4 more	GConflicting classifications of pathogenicity
Select item 538020	NM_001134363.3(RBM20):c.1400C>G (p.Thr467Arg)	RBM20 (T467R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +3 more	GConflicting classifications of pathogenicity
Select item 202043	NM_001134363.3(RBM20):c.1451C>T (p.Thr484Ile)	RBM20 (T484I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +4 more	GBenign/Likely benign
Select item 43972	NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 229184	NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg)	RBM20 (S498R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 383203	NM_001134363.3(RBM20):c.1527+9G>A	RBM20	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 229186	NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)	RBM20 (F510S)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 384286	NM_001134363.3(RBM20):c.1620G>A (p.Leu540=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 378473	NM_001134363.3(RBM20):c.1659G>A (p.Ser553=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +4 more	GConflicting classifications of pathogenicity
Select item 1329090	NM_001134363.3(RBM20):c.1742T>A (p.Ile581Asn)	RBM20 (I581N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1329091	NM_001134363.3(RBM20):c.1745A>G (p.Asn582Ser)	RBM20 (N582S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GUncertain significance
Select item 202081	NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp)	RBM20 (G583D)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 572439	NM_001134363.3(RBM20):c.1766G>A (p.Arg589Gln)	RBM20 (R589Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 538034	NM_001134363.3(RBM20):c.1767G>T (p.Arg589=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 696890	NM_001134363.3(RBM20):c.1815C>T (p.Ala605=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 179707	NM_001134363.3(RBM20):c.1816G>A (p.Val606Met)	RBM20 (V606M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 470591	NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn)	RBM20 (D620N)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 43978	NM_001134363.3(RBM20):c.1880+4_1880+6dup	RBM20	Duplication (intron variant)	Dilated cardiomyopathy 1DD +5 more	GConflicting classifications of pathogenicity
Select item 43979	NM_001134363.3(RBM20):c.1881-3C>T	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD +3 more	GBenign/Likely benign
Select item 2691235	NM_001134363.3(RBM20):c.1907_1909delinsTTG (p.Arg636_Ser637delinsLeuGly)	RBM20	Indel (missense variant)	Cardiomyopathy	GPathogenic
Select item 43981	NM_001134363.3(RBM20):c.1914G>A (p.Pro638=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 202064	NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln)	RBM20 (R641Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 538015	NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=)	RBM20	Indel (synonymous variant)	Dilated cardiomyopathy 1DD +3 more	GConflicting classifications of pathogenicity
Select item 138900	NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 43983	NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 418454	NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys)	RBM20 (Y681C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2691236	NM_001134363.3(RBM20):c.2053_2056del (p.Glu685fs)	RBM20 (E685fs)	Microsatellite (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 379517	NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu)	RBM20 (P690L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1043846	NM_001134363.3(RBM20):c.2071G>T (p.Ala691Ser)	RBM20 (A691S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 43985	NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys)	RBM20 (R703K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 202046	NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)	RBM20 (P706T)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 263478	NM_001134363.3(RBM20):c.2131C>T (p.Arg711Cys)	RBM20 (R711C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 43986	NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)	RBM20 (R716Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 165040	NM_001134363.3(RBM20):c.2244T>G (p.Ser748=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 138901	NM_001134363.3(RBM20):c.2303= (p.Ser768=)	RBM20	Single nucleotide variant (no sequence alteration)	Dilated cardiomyopathy 1DD +4 more	GBenign
Select item 43988	NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu)	RBM20 (S768L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +3 more	GBenign/Likely benign
Select item 199060	NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)	RBM20 (K773R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 43989	NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val)	RBM20 (A778V)	Single nucleotide variant (missense variant)	RBM20-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1044305	NM_001134363.3(RBM20):c.2362G>T (p.Ala788Ser)	RBM20 (A788S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 470599	NM_001134363.3(RBM20):c.2371C>T (p.Arg791Trp)	RBM20 (R791W)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 43990	NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)	RBM20 (A818S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +4 more	GConflicting classifications of pathogenicity
Select item 950863	NM_001134363.3(RBM20):c.2528A>G (p.Glu843Gly)	RBM20 (E843G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GUncertain significance
Select item 43995	NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)	RBM20 (D888N)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 915717	NM_001134363.3(RBM20):c.2693A>G (p.Glu898Gly)	RBM20 (E898G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 626499	NM_001134363.3(RBM20):c.2719G>A (p.Glu907Lys)	RBM20 (E907K)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 43998	NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)	RBM20 (E913K)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 43999	NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)	RBM20 (I921V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 165046	NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu)	RBM20 (K963E)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 470606	NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)	RBM20 (V969I)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1329092	NM_001134363.3(RBM20):c.2953C>T (p.Pro985Ser)	RBM20 (P985S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 238550	NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys)	RBM20 (E1026K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 915718	NM_001134363.3(RBM20):c.3112C>A (p.His1038Asn)	RBM20 (H1038N)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 165048	NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)	RBM20 (P1039S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 44003	NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 44004	NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln)	RBM20 (R1057Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +3 more	GBenign/Likely benign
Select item 227893	NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=)	RBM20	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 538027	NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser)	RBM20 (A1076S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 847000	NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs)	RBM20 (I1090fs)	Duplication (frameshift variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 2691238	NM_001134363.3(RBM20):c.3267del (p.Ile1090fs)	RBM20 (I1090fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 179284	NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs)	RBM20 (S1087fs)	Indel (frameshift variant)	Primary dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1284637	NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala)	RBM20 (P1088A)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 957454	NM_001134363.3(RBM20):c.3262C>T (p.Pro1088Ser)	RBM20 (P1088S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GConflicting classifications of pathogenicity
Select item 1329093	NM_001134363.3(RBM20):c.3264C>T (p.Pro1088=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +3 more	GLikely benign
Select item 44006	NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)	RBM20 (P1089A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1730015	NM_001134363.3(RBM20):c.3304G>T (p.Val1102Leu)	RBM20 (V1102L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 44007	NM_001134363.3(RBM20):c.3366G>A (p.Glu1122=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign

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