"GeneDx"[submitter] AND "RBM20"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 383297	NM_001134363.3(RBM20):c.-19C>T	RBM20	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 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 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 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 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 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 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 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 1675230	NM_001134363.3(RBM20):c.109_112del (p.Gly37fs)	RBM20 (G37fs)	Deletion (frameshift variant)	not provided	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 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 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 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 1312959	NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup)	RBM20	Duplication (inframe_insertion)	Dilated cardiomyopathy 1DD +2 more	GUncertain significance
Select item 432519	NM_001134363.3(RBM20):c.152CGCCCC[3] (p.Pro53_Pro54dup)	RBM20	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 43974	NM_001134363.3(RBM20):c.150A>T (p.Pro50=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 378471	NM_001134363.3(RBM20):c.153G>T (p.Pro51=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 2577618	NM_001134363.3(RBM20):c.166G>A (p.Ala56Thr)	RBM20 (A56T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 675556	NM_001134363.3(RBM20):c.191+106C>T	RBM20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214535	NM_001134363.3(RBM20):c.192-300G>A	RBM20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294273	NM_001134363.3(RBM20):c.192-164del	RBM20	Deletion (intron variant)	not provided	GBenign
Select item 1229006	NM_001134363.3(RBM20):c.192-165_192-164del	RBM20	Deletion (intron variant)	not provided	GBenign
Select item 1272717	NM_001134363.3(RBM20):c.192-31G>A	RBM20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 943943	NM_001134363.3(RBM20):c.215A>T (p.Asn72Ile)	RBM20 (N72I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 202052	NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)	RBM20 (S75L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 386201	NM_001134363.3(RBM20):c.237G>A (p.Pro79=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +1 more	GLikely benign
Select item 138899	NM_001134363.3(RBM20):c.255A>C (p.Ser85=)	RBM20	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 165022	NM_001134363.3(RBM20):c.280C>T (p.Leu94=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3377948	NM_001134363.3(RBM20):c.284A>G (p.Gln95Arg)	RBM20 (Q95R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691820	NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe)	RBM20 (L100F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GUncertain significance
Select item 202079	NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp)	RBM20 (R102W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 298786	NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln)	RBM20 (R102Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2582009	NM_001134363.3(RBM20):c.336C>T (p.Asn112=)	RBM20	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2443619	NM_001134363.3(RBM20):c.348del (p.Ala117fs)	RBM20 (A117fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 416819	NM_001134363.3(RBM20):c.348C>T (p.Ala116=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +4 more	GLikely benign
Select item 179531	NM_001134363.3(RBM20):c.363C>T (p.Asn121=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +2 more	GLikely benign
Select item 848995	NM_001134363.3(RBM20):c.418C>A (p.Pro140Thr)	RBM20 (P140T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
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 515475	NM_001134363.3(RBM20):c.468T>A (p.Ala156=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 202041	NM_001134363.3(RBM20):c.488G>A (p.Arg163Gln)	RBM20 (R163Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2576769	NM_001134363.3(RBM20):c.517C>T (p.Pro173Ser)	RBM20 (P173S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44020	NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr)	RBM20 (P173T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1746149	NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg)	RBM20 (P174R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 44021	NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)	RBM20 (T177S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +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)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 202080	NM_001134363.3(RBM20):c.532C>T (p.Arg178Ter)	RBM20 (R178*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 373358	NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)	RBM20 (G181R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 44022	NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)	RBM20 (P182T)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1305602	NM_001134363.3(RBM20):c.551T>C (p.Met184Thr)	RBM20 (M184T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 392080	NM_001134363.3(RBM20):c.555C>T (p.Asn185=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 645186	NM_001134363.3(RBM20):c.569C>T (p.Pro190Leu)	RBM20 (P190L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 202053	NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys)	RBM20 (Q205K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 1311239	NM_001134363.3(RBM20):c.620C>T (p.Pro207Leu)	RBM20 (P207L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328861	NM_001134363.3(RBM20):c.650G>T (p.Gly217Val)	RBM20 (G217V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 202042	NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile)	RBM20 (T225I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1051356	NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr)	RBM20 (A226T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 178111	NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)	RBM20 (G227V)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 44025	NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp)	RBM20 (G232D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +4 more	GBenign/Likely benign
Select item 1265583	NM_001134363.3(RBM20):c.762G>A (p.Ser254=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +3 more	GConflicting classifications of pathogenicity
Select item 411654	NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)	RBM20 (S258L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1707931	NM_001134363.3(RBM20):c.780T>G (p.Ser260Arg)	RBM20 (S260R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382322	NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser)	RBM20 (T262S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 631626	NM_001134363.3(RBM20):c.794_795dup (p.His266fs)	RBM20 (H266fs)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2502566	NM_001134363.3(RBM20):c.817G>C (p.Asp273His)	RBM20 (D273H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311756	NM_001134363.3(RBM20):c.839A>G (p.Lys280Arg)	RBM20 (K280R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 179028	NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +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 1047660	NM_001134363.3(RBM20):c.858C>A (p.Asn286Lys)	RBM20 (N286K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 424368	NM_001134363.3(RBM20):c.901G>C (p.Ala301Pro)	RBM20 (A301P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 44030	NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg)	RBM20 (G309R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 933899	NM_001134363.3(RBM20):c.968A>G (p.His323Arg)	RBM20 (H323R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1712873	NM_001134363.3(RBM20):c.975C>A (p.Phe325Leu)	RBM20 (F325L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 229182	NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr)	RBM20 (P342T)	Single nucleotide variant (missense variant)	not provided +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)	Dilated cardiomyopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 202054	NM_001134363.3(RBM20):c.1040A>G (p.Tyr347Cys)	RBM20 (Y347C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 538049	NM_001134363.3(RBM20):c.1050C>T (p.Tyr350=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 178877	NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)	RBM20 (G365R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 514091	NM_001134363.3(RBM20):c.1095G>C (p.Gly365=)	RBM20	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 516543	NM_001134363.3(RBM20):c.1113C>T (p.Ser371=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 393136	NM_001134363.3(RBM20):c.1129G>A (p.Gly377Ser)	RBM20 (G377S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 298792	NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg)	RBM20 (G379R)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 538023	NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln)	RBM20 (R380Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 202055	NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter)	RBM20 (Q386*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 298793	NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr)	RBM20 (A387T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 383391	NM_001134363.3(RBM20):c.1162T>C (p.Leu388=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 379466	NM_001134363.3(RBM20):c.1172T>C (p.Val391Ala)	RBM20 (V391A)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2663286	NM_001134363.3(RBM20):c.1177C>A (p.Pro393Thr)	RBM20 (P393T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43966	NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 202056	NM_001134363.3(RBM20):c.1183C>T (p.Gln395Ter)	RBM20 (Q395*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 940883	NM_001134363.3(RBM20):c.1186G>T (p.Ala396Ser)	RBM20 (A396S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 842875	NM_001134363.3(RBM20):c.1232C>T (p.Pro411Leu)	RBM20 (P411L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 548140	NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn)	RBM20 (S415N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity

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