"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44029	NM_001134363.3(RBM20):c.90G>A (p.Arg30=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +3 more	GBenign
Select item 1164295	NM_001134363.3(RBM20):c.114G>T (p.Pro38=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 43970	NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)	RBM20	Microsatellite (inframe_insertion)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 165021	NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln)	RBM20 (P44Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1297619	NM_001134363.3(RBM20):c.138G>C (p.Pro46=)	RBM20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1297555	NM_001134363.3(RBM20):c.164A>C (p.Gln55Pro)	RBM20 (Q55P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 386201	NM_001134363.3(RBM20):c.237G>A (p.Pro79=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 165022	NM_001134363.3(RBM20):c.280C>T (p.Leu94=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 44020	NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr)	RBM20 (P173T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 44025	NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp)	RBM20 (G232D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +3 more	GBenign/Likely benign
Select item 179494	NM_001134363.3(RBM20):c.774G>A (p.Ser258=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +2 more	GLikely benign
Select item 179028	NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 43963	NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)	RBM20 (H343Y)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 298791	NM_001134363.3(RBM20):c.1053C>T (p.Asp351=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 416824	NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +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 provided +5 more	GConflicting classifications of pathogenicity
Select item 180056	NM_001134363.3(RBM20):c.1275+8G>T	RBM20	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 43969	NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)	RBM20 (L429P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	not provided +5 more	GBenign/Likely benign
Select item 518224	NM_001134363.3(RBM20):c.1430-20_1430-19del	RBM20	Deletion (intron variant)	Dilated cardiomyopathy 1DD	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 1284881	NM_001134363.3(RBM20):c.1528-1G>C	RBM20	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 229186	NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)	RBM20 (F510S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 43977	NM_001134363.3(RBM20):c.1801-11G>C	RBM20	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1011868	NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln)	RBM20 (R623Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 671388	NM_001134363.3(RBM20):c.1880+23T>C	RBM20	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 411653	NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)	RBM20 (R634W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GPathogenic
Select item 269	NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)	RBM20 (R634Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GPathogenic/Likely pathogenic
Select item 43981	NM_001134363.3(RBM20):c.1914G>A (p.Pro638=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 538015	NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=)	RBM20	Indel (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1284409	NM_001134363.3(RBM20):c.1975C>T (p.His659Tyr)	RBM20 (H659Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 238546	NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln)	RBM20 (R673Q)	Single nucleotide variant (missense variant)	not provided +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)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 538028	NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)	RBM20 (R726*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1DD +3 more	GConflicting classifications of pathogenicity
Select item 1037530	NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser)	RBM20 (G758S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GConflicting classifications of pathogenicity
Select item 199060	NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)	RBM20 (K773R)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 697163	NM_001134363.3(RBM20):c.2424G>T (p.Gly808=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 43993	NM_001134363.3(RBM20):c.2655+15A>G	RBM20	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 43995	NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)	RBM20 (D888N)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 757266	NM_001134363.3(RBM20):c.2916G>A (p.Gly972=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 44003	NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 44004	NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln)	RBM20 (R1057Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 202051	NM_001134363.3(RBM20):c.3317-20C>T	RBM20	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1100986	NM_001134363.3(RBM20):c.3330C>T (p.Tyr1110=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +1 more	GLikely benign
Select item 44009	NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)	RBM20 (E1125K)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 518228	NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys)	RBM20 (Y1193C)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GUncertain significance
Select item 194356	NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)	RBM20 (S1195Y)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 44016	NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln)	RBM20 (E1223Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GBenign

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Items: 50