RBM20[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 668998	NM_001134363.1(RBM20):c.-403C>A	LOC130004732, RBM20	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1187920	NC_000010.11:g.110644216G>A	RBM20	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1270719	NC_000010.11:g.110644335C>T	RBM20	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 880261	NM_001134363.3(RBM20):c.-31T>C	RBM20	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 538050	NC_000010.11:g.(?_110644435)_(110823634_?)del	LOC111875823, LOC126861041 +3 more	Deletion	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 383297	NM_001134363.3(RBM20):c.-19C>T	RBM20	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 229188	NM_001134363.3(RBM20):c.-16G>T	RBM20	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 514315	NM_001134363.3(RBM20):c.-8C>T	RBM20	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 43962	NM_001134363.3(RBM20):c.-6C>T	RBM20	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 1798667	NM_001134363.3(RBM20):c.-2G>T	RBM20	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 1784193	NM_001134363.3(RBM20):c.-1C>T	RBM20	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
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 416823	NM_001134363.3(RBM20):c.7C>T (p.Leu3=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +2 more	GLikely benign
Select item 1368323	NM_001134363.3(RBM20):c.14C>T (p.Ala5Val)	RBM20 (A5V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GConflicting classifications of pathogenicity
Select item 1647194	NM_001134363.3(RBM20):c.15A>T (p.Ala5=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +1 more	GLikely benign
Select item 1302239	NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr)	RBM20 (A6T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1306169	NM_001134363.3(RBM20):c.19A>G (p.Met7Val)	RBM20 (M7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636542	NM_001134363.3(RBM20):c.19A>T (p.Met7Leu)	RBM20 (M7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030938	NM_001134363.3(RBM20):c.20T>G (p.Met7Arg)	RBM20 (M7R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 1785893	NM_001134363.3(RBM20):c.20T>C (p.Met7Thr)	RBM20 (M7T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1019293	NM_001134363.3(RBM20):c.25C>T (p.Gln9Ter)	RBM20 (Q9*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 957630	NM_001134363.3(RBM20):c.27G>C (p.Gln9His)	RBM20 (Q9H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 193183	NM_001134363.3(RBM20):c.32C>T (p.Ala11Val)	RBM20 (A11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390248	NM_001134363.3(RBM20):c.35A>T (p.Asp12Val)	RBM20 (D12V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3233216	NM_001134363.3(RBM20):c.36C>T (p.Asp12=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 519089	NM_001134363.3(RBM20):c.36C>A (p.Asp12Glu)	RBM20 (D12E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GConflicting classifications of pathogenicity
Select item 202076	NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg)	RBM20 (S14R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1034453	NM_001134363.3(RBM20):c.43G>C (p.Gly15Arg)	RBM20 (G15R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GBenign
Select item 470616	NM_001134363.3(RBM20):c.43G>A (p.Gly15Ser)	RBM20 (G15S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 1141660	NM_001134363.3(RBM20):c.48G>C (p.Pro16=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 871143	NM_001134363.3(RBM20):c.50A>T (p.Glu17Val)	RBM20 (E17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419055	NM_001134363.3(RBM20):c.52C>A (p.Gln18Lys)	RBM20 (Q18K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 1386561	NM_001134363.3(RBM20):c.55C>A (p.Pro19Thr)	RBM20 (P19T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 179289	NM_001134363.3(RBM20):c.56C>G (p.Pro19Arg)	RBM20 (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1447765	NM_001134363.3(RBM20):c.57_58delinsTT (p.Asp20Tyr)	RBM20 (D20Y)	Indel (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 386030	NM_001134363.3(RBM20):c.57G>T (p.Pro19=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1756053	NM_001134363.3(RBM20):c.68C>G (p.Ala23Gly)	RBM20 (A23G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 430042	NM_001134363.3(RBM20):c.68C>T (p.Ala23Val)	RBM20 (A23V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2126507	NM_001134363.3(RBM20):c.69C>T (p.Ala23=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 1014040	NM_001134363.3(RBM20):c.70T>A (p.Cys24Ser)	RBM20 (C24S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 642495	NM_001134363.3(RBM20):c.70T>C (p.Cys24Arg)	RBM20 (C24R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 1608611	NM_001134363.3(RBM20):c.72C>T (p.Cys24=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 1575431	NM_001134363.3(RBM20):c.75T>C (p.Ser25=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2497300	NM_001134363.3(RBM20):c.80C>A (p.Pro27His)	RBM20 (P27H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2779681	NM_001134363.3(RBM20):c.81T>C (p.Pro27=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 937622	NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp)	RBM20 (G28D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GConflicting classifications of pathogenicity
Select item 1514321	NM_001134363.3(RBM20):c.87_92del (p.Arg30_Ala31del)	RBM20	Deletion (inframe_deletion)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3337510	NM_001134363.3(RBM20):c.88C>T (p.Arg30Trp)	RBM20 (R30W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1765038	NM_001134363.3(RBM20):c.88C>G (p.Arg30Gly)	RBM20 (R30G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1025442	NM_001134363.3(RBM20):c.89_90delinsCA (p.Arg30Pro)	RBM20 (R30P)	Indel (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 44029	NM_001134363.3(RBM20):c.90G>A (p.Arg30=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 1395600	NM_001134363.3(RBM20):c.98del (p.Pro33fs)	RBM20 (P33fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1DD +2 more	GUncertain significance
Select item 2105729	NM_001134363.3(RBM20):c.98C>G (p.Pro33Arg)	RBM20 (P33R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2787942	NM_001134363.3(RBM20):c.99G>A (p.Pro33=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 508499	NM_001134363.3(RBM20):c.99G>C (p.Pro33=)	RBM20	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2792746	NM_001134363.3(RBM20):c.103C>T (p.Pro35Ser)	RBM20 (P35S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 1974327	NM_001134363.3(RBM20):c.103C>A (p.Pro35Thr)	RBM20 (P35T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 3313230	NM_001134363.3(RBM20):c.104C>A (p.Pro35His)	RBM20 (P35H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1424457	NM_001134363.3(RBM20):c.104C>G (p.Pro35Arg)	RBM20 (P35R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 1586971	NM_001134363.3(RBM20):c.105C>T (p.Pro35=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 1675230	NM_001134363.3(RBM20):c.109_112del (p.Gly37fs)	RBM20 (G37fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3313225	NM_001134363.3(RBM20):c.114G>A (p.Pro38=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 968798	NM_001134363.3(RBM20):c.115C>T (p.Arg39Ter)	RBM20 (R39*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 945428	NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln)	RBM20 (R39Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GConflicting classifications of pathogenicity
Select item 1741668	NM_001134363.3(RBM20):c.117A>G (p.Arg39=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1046398	NM_001134363.3(RBM20):c.118G>C (p.Gly40Arg)	RBM20 (G40R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 1446962	NM_001134363.3(RBM20):c.119G>C (p.Gly40Ala)	RBM20 (G40A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2449383	NM_001134363.3(RBM20):c.120G>A (p.Gly40=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2064780	NM_001134363.3(RBM20):c.120G>T (p.Gly40=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2163834	NM_001134363.3(RBM20):c.121A>T (p.Met41Leu)	RBM20 (M41L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3068650	NM_001134363.3(RBM20):c.122T>A (p.Met41Lys)	RBM20 (M41K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 43970	NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)	RBM20	Microsatellite (inframe_insertion)	Dilated Cardiomyopathy, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 1760338	NM_001134363.3(RBM20):c.124C>T (p.Gln42Ter)	RBM20 (Q42*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1465608	NM_001134363.3(RBM20):c.125A>G (p.Gln42Arg)	RBM20 (Q42R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 1557316	NM_001134363.3(RBM20):c.126G>A (p.Gln42=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1002521	NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3])	RBM20	Duplication (inframe_insertion)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2693203	NM_001134363.3(RBM20):c.127C>T (p.Gln43Ter)	RBM20 (Q43*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 1491588	NM_001134363.3(RBM20):c.129GCC[6] (p.Pro48dup)	RBM20	Microsatellite (inframe_insertion)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 963186	NM_001134363.3(RBM20):c.132_155dup (p.Pro47_Pro54dup)	RBM20	Duplication (inframe_insertion)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 298785	NM_001134363.3(RBM20):c.128A>C (p.Gln43Pro)	RBM20 (Q43P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 516887	NM_001134363.3(RBM20):c.129GCC[4] (p.Pro48del)	RBM20 (P48del)	Microsatellite (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2763237	NM_001134363.3(RBM20):c.130C>A (p.Pro44Thr)	RBM20 (P44T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2702018	NM_001134363.3(RBM20):c.131C>G (p.Pro44Arg)	RBM20 (P44R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 165021	NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln)	RBM20 (P44Q)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 2158476	NM_001134363.3(RBM20):c.134C>G (p.Pro45Arg)	RBM20 (P45R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 844635	NM_001134363.3(RBM20):c.134C>T (p.Pro45Leu)	RBM20 (P45L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 238543	NM_001134363.3(RBM20):c.138_149dup (p.Gln49_Pro52dup)	RBM20	Duplication (inframe_insertion)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2822258	NM_001134363.3(RBM20):c.137_145dup (p.Pro48_Gln49insProProPro)	RBM20	Duplication (inframe_insertion)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 1312959	NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup)	RBM20	Duplication (inframe_insertion)	Dilated cardiomyopathy 1DD +2 more	GUncertain significance
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 806568	NM_001134363.3(RBM20):c.141_161del (p.Pro48_Pro54del)	RBM20	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 505314	NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser)	RBM20 (P46S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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