ClinVar for MedGen (Select 416441) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254894	NM_001134363.3(RBM20):c.1002dup (p.Ala335fs)	RBM20 (A335fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1DD	GLikely pathogenic
Select item 3254891	NM_001134363.3(RBM20):c.1639A>G (p.Asn547Asp)	RBM20 (N547D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3254887	NM_001134363.3(RBM20):c.419del (p.Pro140fs)	RBM20 (P140fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1DD	GLikely pathogenic
Select item 3244897	NC_000010.10:g.(?_112570121)_(112583392_?)del	RBM20	Deletion	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3244896	NC_000010.10:g.(?_112590799)_(112595736_?)del	RBM20	Deletion	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3244895	NC_000010.10:g.(?_112579810)_(112583392_?)del	RBM20	Deletion	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3244894	NC_000010.10:g.(?_112570121)_(112570240_?)del	RBM20	Deletion	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3244892	NC_000010.10:g.(?_112590799)_(112590960_?)del	RBM20	Deletion	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3235689	NM_001134363.3(RBM20):c.1310C>A (p.Ala437Asp)	RBM20 (A437D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3066072	NM_001134363.3(RBM20):c.2550G>A (p.Glu850=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3022421	NM_001134363.3(RBM20):c.700G>C (p.Ala234Pro)	RBM20 (A234P)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3022289	NM_001134363.3(RBM20):c.1596G>T (p.Glu532Asp)	RBM20 (E532D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3022131	NM_001134363.3(RBM20):c.1531G>T (p.Ala511Ser)	RBM20 (A511S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3020956	NM_001134363.3(RBM20):c.1338-4C>T	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 3020918	NM_001134363.3(RBM20):c.1946C>T (p.Thr649Ile)	RBM20 (T649I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3020461	NM_001134363.3(RBM20):c.2655+18T>C	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 3015702	NM_001134363.3(RBM20):c.2453C>A (p.Ala818Asp)	RBM20 (A818D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3014419	NM_001134363.3(RBM20):c.1632G>T (p.Lys544Asn)	RBM20 (K544N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3014121	NM_001134363.3(RBM20):c.602G>C (p.Gly201Ala)	RBM20 (G201A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3014008	NM_001134363.3(RBM20):c.1400C>T (p.Thr467Ile)	RBM20 (T467I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3013967	NM_001134363.3(RBM20):c.332C>T (p.Thr111Ile)	RBM20 (T111I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 3012630	NM_001134363.3(RBM20):c.2100G>A (p.Lys700=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 3009762	NM_001134363.3(RBM20):c.606A>G (p.Val202=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 3006916	NM_001134363.3(RBM20):c.3574-18C>T	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 3005368	NM_001134363.3(RBM20):c.454G>T (p.Val152Phe)	RBM20 (V152F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 3005215	NM_001134363.3(RBM20):c.2950C>T (p.Leu984=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2999239	NM_001134363.3(RBM20):c.3211A>G (p.Thr1071Ala)	RBM20 (T1071A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2996578	NM_001134363.3(RBM20):c.854C>T (p.Pro285Leu)	RBM20 (P285L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2994241	NM_001134363.3(RBM20):c.1907G>T (p.Arg636Leu)	RBM20 (R636L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GPathogenic/Likely pathogenic
Select item 2989598	NM_001134363.3(RBM20):c.1097G>T (p.Gly366Val)	RBM20 (G366V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2988579	NM_001134363.3(RBM20):c.853C>A (p.Pro285Thr)	RBM20 (P285T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2988227	NM_001134363.3(RBM20):c.3574-10C>T	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2985989	NM_001134363.3(RBM20):c.2374dup (p.Glu792fs)	RBM20 (E792fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2985619	NM_001134363.3(RBM20):c.857A>G (p.Asn286Ser)	RBM20 (N286S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2985311	NM_001134363.3(RBM20):c.741G>T (p.Gln247His)	RBM20 (Q247H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2984794	NM_001134363.3(RBM20):c.2501A>G (p.Asp834Gly)	RBM20 (D834G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2983836	NM_001134363.3(RBM20):c.1834G>A (p.Asp612Asn)	RBM20 (D612N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2982823	NM_001134363.3(RBM20):c.1021C>G (p.Pro341Ala)	RBM20 (P341A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2982316	NM_001134363.3(RBM20):c.3191A>G (p.Asp1064Gly)	RBM20 (D1064G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2980299	NM_001134363.3(RBM20):c.2207A>C (p.Lys736Thr)	RBM20 (K736T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2973589	NM_001134363.3(RBM20):c.2496T>C (p.Asp832=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2972672	NM_001134363.3(RBM20):c.3316+1G>A	RBM20	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2970282	NM_001134363.3(RBM20):c.1728A>C (p.Glu576Asp)	RBM20 (E576D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2964357	NM_001134363.3(RBM20):c.3205A>C (p.Arg1069=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2963811	NM_001134363.3(RBM20):c.710G>A (p.Gly237Asp)	RBM20 (G237D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2961612	NM_001134363.3(RBM20):c.1940C>T (p.Ser647Phe)	RBM20 (S647F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2961108	NM_001134363.3(RBM20):c.1476G>A (p.Arg492=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2958261	NM_001134363.3(RBM20):c.2346C>T (p.Ser782=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2954587	NM_001134363.3(RBM20):c.2627C>A (p.Ser876Tyr)	RBM20 (S876Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2920051	NM_001134363.3(RBM20):c.1669-3T>G	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2919566	NM_001134363.3(RBM20):c.2787G>A (p.Leu929=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2919308	NM_001134363.3(RBM20):c.1669-16T>G	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2918338	NM_001134363.3(RBM20):c.2109G>T (p.Arg703Ser)	RBM20 (R703S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2917895	NM_001134363.3(RBM20):c.924C>G (p.Val308=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2916823	NM_001134363.3(RBM20):c.3451+16A>G	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2916595	NM_001134363.3(RBM20):c.3452-11T>A	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2915511	NM_001134363.3(RBM20):c.937C>A (p.Gln313Lys)	RBM20 (Q313K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GBenign
Select item 2915402	NM_001134363.3(RBM20):c.1339G>A (p.Ala447Thr)	RBM20 (A447T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2915020	NM_001134363.3(RBM20):c.3565A>G (p.Asn1189Asp)	RBM20 (N1189D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2914424	NM_001134363.3(RBM20):c.1323G>A (p.Leu441=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2913375	NM_001134363.3(RBM20):c.732A>G (p.Thr244=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2913249	NM_001134363.3(RBM20):c.155C>T (p.Pro52Leu)	RBM20 (P52L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2912872	NM_001134363.3(RBM20):c.3394C>T (p.Leu1132Phe)	RBM20 (L1132F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2912871	NM_001134363.3(RBM20):c.639C>G (p.Ile213Met)	RBM20 (I213M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2912853	NM_001134363.3(RBM20):c.2189G>A (p.Gly730Glu)	RBM20 (G730E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2912478	NM_001134363.3(RBM20):c.521C>T (p.Pro174Leu)	RBM20 (P174L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2912286	NM_001134363.3(RBM20):c.1571A>G (p.Asn524Ser)	RBM20 (N524S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2912032	NM_001134363.3(RBM20):c.2051G>A (p.Arg684Lys)	RBM20 (R684K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2910081	NM_001134363.3(RBM20):c.194C>T (p.Ala65Val)	RBM20 (A65V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2909940	NM_001134363.3(RBM20):c.1880+14_1880+20del	RBM20	Microsatellite (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2906412	NM_001134363.3(RBM20):c.544C>T (p.Pro182Ser)	RBM20 (P182S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2906362	NM_001134363.3(RBM20):c.1012A>G (p.Met338Val)	RBM20 (M338V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2903523	NM_001134363.3(RBM20):c.2288A>G (p.Glu763Gly)	RBM20 (E763G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GConflicting classifications of pathogenicity
Select item 2903206	NM_001134363.3(RBM20):c.902C>T (p.Ala301Val)	RBM20 (A301V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2903108	NM_001134363.3(RBM20):c.3316+19C>T	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2898123	NM_001134363.3(RBM20):c.1276-17C>T	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2895654	NM_001134363.3(RBM20):c.3225G>T (p.Gly1075=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2894412	NM_001134363.3(RBM20):c.3288C>T (p.Asn1096=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2894274	NM_001134363.3(RBM20):c.2106C>G (p.Asp702Glu)	RBM20 (D702E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2894067	NM_001134363.3(RBM20):c.184A>G (p.Ile62Val)	RBM20 (I62V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2892477	NM_001134363.3(RBM20):c.2817C>G (p.Asp939Glu)	RBM20 (D939E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2890873	NM_001134363.3(RBM20):c.3573+12C>G	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2889881	NM_001134363.3(RBM20):c.3359C>T (p.Ser1120Leu)	RBM20 (S1120L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2889652	NM_001134363.3(RBM20):c.1174C>G (p.Arg392Gly)	RBM20 (R392G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2886563	NM_001134363.3(RBM20):c.3451+9A>G	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2885895	NM_001134363.3(RBM20):c.3585C>T (p.Ser1195=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2885726	NM_001134363.3(RBM20):c.900G>T (p.Gln300His)	RBM20 (Q300H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2884095	NM_001134363.3(RBM20):c.174A>G (p.Leu58=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2882450	NM_001134363.3(RBM20):c.1880+11A>G	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2881927	NM_001134363.3(RBM20):c.1430-9A>G	RBM20	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2881786	NM_001134363.3(RBM20):c.1521G>T (p.Gly507=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2876131	NM_001134363.3(RBM20):c.2367G>A (p.Arg789=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2875248	NM_001134363.3(RBM20):c.3646A>G (p.Ser1216Gly)	RBM20 (S1216G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2874934	NM_001134363.3(RBM20):c.503C>T (p.Ala168Val)	RBM20 (A168V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2874616	NM_001134363.3(RBM20):c.1007G>A (p.Gly336Asp)	RBM20 (G336D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2868392	NM_001134363.3(RBM20):c.3145C>T (p.Pro1049Ser)	RBM20 (P1049S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 2867953	NM_001134363.3(RBM20):c.1149G>A (p.Lys383=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GBenign
Select item 2867840	NM_001134363.3(RBM20):c.982C>T (p.Gln328Ter)	RBM20 (Q328*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2866309	NM_001134363.3(RBM20):c.3455T>G (p.Val1152Gly)	RBM20 (V1152G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 2862878	NM_001134363.3(RBM20):c.751C>T (p.Leu251=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD	GLikely benign

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