Emd Variant Search Result - Rat Genome Database

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589 records found for search term Emd

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8562232	CV26219	deletion	EMD, 5-BP DEL, NT631	X-linked Emery-Dreifuss muscular dystrophy [RCV000011930]	pathogenic				Human		name , alternate_id
10049309	CV190211	single nucleotide variant	NM_000117.3(EMD):c.-7A>C	not provided [RCV000173065]	uncertain significance	X	154379478	154379478	Human		name
150435924	CV1270882	single nucleotide variant	NM_000117.3(EMD):c.*60C>T	not provided [RCV001689432]	benign	X	154381257	154381257	Human		name
150450933	CV1276529	single nucleotide variant	NM_000117.3(EMD):c.*59G>C	not provided [RCV001708318]	benign	X	154381256	154381256	Human		name
12835553	CV377993	single nucleotide variant	NM_000117.3(EMD):c.-24C>T	not specified [RCV000421883]	likely benign	X	154379461	154379461	Human		name
127239066	CV1086460	single nucleotide variant	NM_000117.3(EMD):c.82+9C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV001397447]	likely benign	X	154379575	154379575	Human	1	name
150420911	CV1199452	single nucleotide variant	NM_000117.3(EMD):c.-134A>G	not provided [RCV001577815]	likely benign	X	154379351	154379351	Human		name
9690602	CV178281	single nucleotide variant	NM_000117.3(EMD):c.83-2A>G	Neuromuscular disease [RCV000156286]	likely pathogenic	X	154379688	154379688	Human	1	name
156439004	CV1943862	single nucleotide variant	NM_000117.3(EMD):c.82+4C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003108956]	uncertain significance	X	154379570	154379570	Human	1	name
243058611	CV2409876	single nucleotide variant	NM_000117.3(EMD):c.82+3A>G	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492841]\|X-linked Emery-Dreifuss muscular dystrophy [RCV003638913]	uncertain significance	X	154379569	154379569	Human	2	name
11637297	CV267526	single nucleotide variant	NM_000117.3(EMD):c.82+4C>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003522954]\|not provided [RCV000283476]	uncertain significance	X	154379570	154379570	Human	1	name
405184566	CV2996134	single nucleotide variant	NM_000117.3(EMD):c.83-9T>C	X-linked Emery-Dreifuss muscular dystrophy [RCV003640070]	likely benign	X	154379681	154379681	Human	1	name
405184292	CV2999087	single nucleotide variant	NM_000117.3(EMD):c.83-6G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003640037]	uncertain significance	X	154379684	154379684	Human	1	name
405286110	CV3196521	single nucleotide variant	NM_000117.3(EMD):c.-117G>A	EMD-related disorder [RCV003981393]	likely benign	X	154379368	154379368	Human		name , trait , alternate_id
597970685	CV3802046	single nucleotide variant	NM_000117.3(EMD):c.82+8G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV005141838]	likely benign	X	154379574	154379574	Human	1	name
597932392	CV3838020	single nucleotide variant	NM_000117.3(EMD):c.83-7C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV005185989]	likely benign	X	154379683	154379683	Human	1	name
597906776	CV3853226	single nucleotide variant	NM_000117.3(EMD):c.83-3C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV005202883]	uncertain significance	X	154379687	154379687	Human	1	name
13211785	CV426737	single nucleotide variant	NM_000117.3(EMD):c.82+1G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV000497910]	pathogenic	X	154379567	154379567	Human	1	name
26894173	CV853032	single nucleotide variant	NM_000117.3(EMD):c.83-2A>C	X-linked Emery-Dreifuss muscular dystrophy [RCV001063271]	pathogenic	X	154379688	154379688	Human	1	name
38598155	CV963192	single nucleotide variant	NM_000117.3(EMD):c.82+1G>A	Charcot-Marie-Tooth disease type 2 [RCV002221161]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001251168]	likely pathogenic	X	154379567	154379567	Human	2	name
127237288	CV1036902	single nucleotide variant	NM_000117.3(EMD):c.449+1G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV001376154]	pathogenic	X	154380803	154380803	Human	1	name
127279842	CV1086462	single nucleotide variant	NM_000117.3(EMD):c.188-6A>T	X-linked Emery-Dreifuss muscular dystrophy [RCV001409363]	likely benign	X	154379936	154379936	Human	1	name
127231419	CV1086465	single nucleotide variant	NM_000117.3(EMD):c.400-4G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV001395325]	likely benign	X	154380749	154380749	Human	1	name
127333570	CV1129550	single nucleotide variant	NM_000117.3(EMD):c.188-7A>G	X-linked Emery-Dreifuss muscular dystrophy [RCV001473015]	likely benign	X	154379935	154379935	Human	1	name
127314025	CV1129553	single nucleotide variant	NM_000117.3(EMD):c.266-9C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV001457592]	likely benign	X	154380225	154380225	Human	1	name
127304681	CV1150599	single nucleotide variant	NM_000117.3(EMD):c.400-6C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV001499706]\|not specified [RCV005405636]	likely benign	X	154380747	154380747	Human	1	name
151234514	CV1320986	single nucleotide variant	NM_000117.3(EMD):c.188-6A>G	X-linked Emery-Dreifuss muscular dystrophy [RCV001801337]	pathogenic\|conflicting interpretations of pathogenicity	X	154379936	154379936	Human	1	name
151349652	CV1321532	single nucleotide variant	NM_000117.3(EMD):c.187+1G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV001802514]	pathogenic	X	154379795	154379795	Human	1	name
151841362	CV1428650	single nucleotide variant	NM_000117.3(EMD):c.399+1G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV001994790]	pathogenic	X	154380368	154380368	Human	1	name
151821727	CV1449654	single nucleotide variant	NM_000117.3(EMD):c.187+4A>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002013451]	uncertain significance	X	154379798	154379798	Human	1	name
151806505	CV1453451	single nucleotide variant	NM_000117.3(EMD):c.266-3A>G	X-linked Emery-Dreifuss muscular dystrophy [RCV001877850]	pathogenic\|likely pathogenic\|uncertain significance	X	154380231	154380231	Human	1	name
152137932	CV1525338	single nucleotide variant	NM_000117.3(EMD):c.83-17G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV002137798]	likely benign	X	154379673	154379673	Human	1	name
152097984	CV1534421	single nucleotide variant	NM_000117.3(EMD):c.82+17G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV002095117]	likely benign	X	154379583	154379583	Human	1	name
152029276	CV1653134	single nucleotide variant	NM_000117.3(EMD):c.83-18C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002085748]	likely benign	X	154379672	154379672	Human	1	name
9691626	CV176795	single nucleotide variant	NM_000117.3(EMD):c.266-2A>G	Emery-Dreifuss muscular dystrophy [RCV001280616]\|Neuromuscular disease [RCV000150647]\|X-linked Emery-Dreifuss muscular dystrophy [RCV005089732]\|not provided [RCV000727586]	pathogenic	X	154380232	154380232	Human	2	name
155695773	CV1793997	single nucleotide variant	NM_000117.3(EMD):c.400-3C>T	Cardiovascular phenotype [RCV002357823]\|X-linked Emery-Dreifuss muscular dystrophy [RCV003638830]	uncertain significance	X	154380750	154380750	Human	2	name
156231095	CV1885116	single nucleotide variant	NM_000117.3(EMD):c.82+12C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003085368]	likely benign	X	154379578	154379578	Human	1	name
156124377	CV1953074	single nucleotide variant	NM_000117.3(EMD):c.450-6C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002571988]	likely benign	X	154380876	154380876	Human	1	name
10055768	CV198543	single nucleotide variant	NM_000117.3(EMD):c.187+1G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV001037353]\|not provided [RCV000497569]	pathogenic	X	154379795	154379795	Human	1	name
10055769	CV198545	single nucleotide variant	NM_000117.3(EMD):c.449+5G>A	Cardiovascular phenotype [RCV002326991]\|Emery-Dreifuss muscular dystrophy [RCV001271616]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000804499]\|not provided [RCV000183442]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380807	154380807	Human	2	name
155940735	CV2071636	single nucleotide variant	NM_000117.3(EMD):c.449+7A>G	X-linked Emery-Dreifuss muscular dystrophy [RCV002861762]	likely benign	X	154380809	154380809	Human	1	name
156097227	CV2110711	duplication	NM_000117.3(EMD):c.266-9dup	X-linked Emery-Dreifuss muscular dystrophy [RCV002926906]	benign	X	154380219	154380220	Human	1	name
156119632	CV2115889	single nucleotide variant	NM_000117.3(EMD):c.450-8T>C	X-linked Emery-Dreifuss muscular dystrophy [RCV002927761]	likely benign	X	154380874	154380874	Human	1	name
11093012	CV231344	single nucleotide variant	NM_000117.3(EMD):c.400-9C>T	Emery-Dreifuss muscular dystrophy [RCV001828062]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000608494]\|not provided [RCV000726976]\|not specified [RCV000219256]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380744	154380744	Human	1	name
329379833	CV2429985	single nucleotide variant	NM_000117.3(EMD):c.449+3G>A	Cardiovascular phenotype [RCV003187377]	uncertain significance	X	154380805	154380805	Human		name
11659479	CV267558	single nucleotide variant	NM_000117.3(EMD):c.449+4C>T	Cardiovascular phenotype [RCV002328766]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001315779]\|not provided [RCV000358209]	uncertain significance	X	154380806	154380806	Human	2	name
405073298	CV2862286	single nucleotide variant	NM_000117.3(EMD):c.187+5G>C	X-linked Emery-Dreifuss muscular dystrophy [RCV003523981]	uncertain significance	X	154379799	154379799	Human	1	name
404990813	CV2889829	single nucleotide variant	NM_000117.3(EMD):c.83-12G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003525039]	likely benign	X	154379678	154379678	Human	1	name
405182130	CV2973332	single nucleotide variant	NM_000117.3(EMD):c.83-16C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003639758]	likely benign	X	154379674	154379674	Human	1	name
405182815	CV2982360	single nucleotide variant	NM_000117.3(EMD):c.187+2T>G	X-linked Emery-Dreifuss muscular dystrophy [RCV003639870]	pathogenic	X	154379796	154379796	Human	1	name
405185023	CV2993633	single nucleotide variant	NM_000117.3(EMD):c.188-8C>G	X-linked Emery-Dreifuss muscular dystrophy [RCV003640120]	likely benign	X	154379934	154379934	Human	1	name
405184144	CV2995107	single nucleotide variant	NM_000117.3(EMD):c.399+2T>C	X-linked Emery-Dreifuss muscular dystrophy [RCV003640017]	pathogenic	X	154380369	154380369	Human	1	name
405169245	CV3034327	single nucleotide variant	NM_000117.3(EMD):c.266-9C>G	X-linked Emery-Dreifuss muscular dystrophy [RCV003638244]	likely benign	X	154380225	154380225	Human	1	name
405168767	CV3037780	single nucleotide variant	NM_000117.3(EMD):c.265+8A>G	X-linked Emery-Dreifuss muscular dystrophy [RCV003638252]	likely benign	X	154380027	154380027	Human	1	name
405178259	CV3072627	single nucleotide variant	NM_000117.3(EMD):c.83-13C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003639349]	likely benign	X	154379677	154379677	Human	1	name
405188733	CV3121333	single nucleotide variant	NM_000117.3(EMD):c.82+20A>C	X-linked Emery-Dreifuss muscular dystrophy [RCV003820789]	likely benign	X	154379586	154379586	Human	1	name
405203369	CV3165196	single nucleotide variant	NM_000117.3(EMD):c.187+7G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003861057]	likely benign	X	154379801	154379801	Human	1	name
402514051	CV3178776	single nucleotide variant	NM_000117.3(EMD):c.82+19G>C	X-linked Emery-Dreifuss muscular dystrophy [RCV003879209]	likely benign	X	154379585	154379585	Human	1	name
402497896	CV3179376	single nucleotide variant	NM_000117.3(EMD):c.187+7G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003877643]	likely benign	X	154379801	154379801	Human	1	name
405868382	CV3400372	single nucleotide variant	NM_000117.3(EMD):c.450-1G>A	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV004576374]	likely pathogenic	X	154380881	154380881	Human	1	name
597871153	CV3768287	single nucleotide variant	NM_000117.3(EMD):c.82+10G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV005122666]	likely benign	X	154379576	154379576	Human	1	name
13522829	CV492335	single nucleotide variant	NM_000117.3(EMD):c.449+4C>G	not provided [RCV000592236]	uncertain significance	X	154380806	154380806	Human		name
13531989	CV508078	single nucleotide variant	NM_000117.3(EMD):c.188-4C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002529400]\|not specified [RCV000606654]	likely benign	X	154379938	154379938	Human	1	name
8605125	CV51449	single nucleotide variant	NM_000117.3(EMD):c.83-13C>G	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV005229847]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002054555]\|not provided [RCV001682725]\|not specified [RCV000035112]	benign\|likely benign	X	154379677	154379677	Human	2	name
14975433	CV672464	single nucleotide variant	NM_000117.3(EMD):c.265+2T>A	Primary familial dilated cardiomyopathy [RCV000845433]	likely pathogenic	X	154380021	154380021	Human	1	name
8639367	CV98350	single nucleotide variant	NM_000117.3(EMD):c.450-2A>G	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492432]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000816244]\|not provided [RCV000078132]	pathogenic\|likely pathogenic\|uncertain significance	X	154380880	154380880	Human	2	name
150339220	CV1167798	single nucleotide variant	NM_000117.3(EMD):c.399+64T>C	not provided [RCV001534108]	likely benign	X	154380431	154380431	Human		name
150409759	CV1178701	single nucleotide variant	NM_000117.3(EMD):c.188-12C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002071996]\|not provided [RCV001546359]\|not specified [RCV003487475]	benign\|likely benign	X	154379930	154379930	Human	1	name
150487345	CV1251508	single nucleotide variant	NM_000117.3(EMD):c.399+49G>A	not provided [RCV001674179]	benign	X	154380416	154380416	Human		name
151232960	CV1320038	single nucleotide variant	NM_000117.3(EMD):c.266-10C>T	Cardiomyopathy [RCV001799394]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002077232]	likely benign	X	154380224	154380224	Human	3	name
8690955	CV140910	single nucleotide variant	NM_000117.3(EMD):c.399+18C>T	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV005229945]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002055529]\|not provided [RCV001725985]\|not specified [RCV000124887]	benign\|likely benign	X	154380385	154380385	Human	2	name
152137747	CV1563436	single nucleotide variant	NM_000117.3(EMD):c.188-16C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002200174]	likely benign	X	154379926	154379926	Human	1	name
152092645	CV1571269	single nucleotide variant	NM_000117.3(EMD):c.449+10G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002150789]	likely benign	X	154380812	154380812	Human	1	name
152104052	CV1574714	single nucleotide variant	NM_000117.3(EMD):c.450-19C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002095907]	likely benign	X	154380863	154380863	Human	1	name
152161598	CV1584525	single nucleotide variant	NM_000117.3(EMD):c.450-12C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002123298]	likely benign	X	154380870	154380870	Human	1	name
152031230	CV1593431	single nucleotide variant	NM_000117.3(EMD):c.450-13T>C	X-linked Emery-Dreifuss muscular dystrophy [RCV002106105]	likely benign	X	154380869	154380869	Human	1	name
152113301	CV1605780	single nucleotide variant	NM_000117.3(EMD):c.449+12G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV002116842]	likely benign	X	154380814	154380814	Human	1	name
152074877	CV1620489	single nucleotide variant	NM_000117.3(EMD):c.399+18C>A	X-linked Emery-Dreifuss muscular dystrophy [RCV002111961]	likely benign	X	154380385	154380385	Human	1	name
152176163	CV1628335	single nucleotide variant	NM_000117.3(EMD):c.450-13T>G	X-linked Emery-Dreifuss muscular dystrophy [RCV002164304]\|not specified [RCV005058125]	likely benign	X	154380869	154380869	Human	1	name
156116682	CV1877342	single nucleotide variant	NM_000117.3(EMD):c.400-13C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003081265]	likely benign	X	154380740	154380740	Human	1	name
156253042	CV1967292	single nucleotide variant	NM_000117.3(EMD):c.187+12G>C	X-linked Emery-Dreifuss muscular dystrophy [RCV002597533]	likely benign	X	154379806	154379806	Human	1	name
155914485	CV2066105	single nucleotide variant	NM_000117.3(EMD):c.450-11T>C	X-linked Emery-Dreifuss muscular dystrophy [RCV002837961]	likely benign	X	154380871	154380871	Human	1	name
156011103	CV2126893	single nucleotide variant	NM_000117.3(EMD):c.266-13C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002975651]	likely benign	X	154380221	154380221	Human	1	name
156110400	CV2146011	single nucleotide variant	NM_000117.3(EMD):c.449+11G>C	X-linked Emery-Dreifuss muscular dystrophy [RCV003021387]	benign	X	154380813	154380813	Human	1	name
155941143	CV2158072	single nucleotide variant	NM_000117.3(EMD):c.187+16G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003014275]	likely benign	X	154379810	154379810	Human	1	name
11636726	CV266193	single nucleotide variant	NM_000117.3(EMD):c.449+10G>C	X-linked Emery-Dreifuss muscular dystrophy [RCV001424183]\|not provided [RCV000272940]	likely benign\|uncertain significance	X	154380812	154380812	Human	1	name
405074102	CV2859858	deletion	NM_000117.3(EMD):c.266-19del	X-linked Emery-Dreifuss muscular dystrophy [RCV003524033]	likely benign	X	154380214	154380214	Human	1	name
405051940	CV2873178	single nucleotide variant	NM_000117.3(EMD):c.399+19G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003522215]	likely benign	X	154380386	154380386	Human	1	name
405054655	CV2888131	single nucleotide variant	NM_000117.3(EMD):c.265+17G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003522445]	likely benign	X	154380036	154380036	Human	1	name
404992500	CV2890818	single nucleotide variant	NM_000117.3(EMD):c.187+18G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003525229]	likely benign	X	154379812	154379812	Human	1	name
405067121	CV2896280	single nucleotide variant	NM_000117.3(EMD):c.188-14T>C	X-linked Emery-Dreifuss muscular dystrophy [RCV003523579]	likely benign	X	154379928	154379928	Human	1	name
405079219	CV2908657	single nucleotide variant	NM_000117.3(EMD):c.188-18C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003524417]	likely benign	X	154379924	154379924	Human	1	name
405056882	CV2931780	single nucleotide variant	NM_000117.3(EMD):c.399+19G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003522611]	likely benign	X	154380386	154380386	Human	1	name
405178557	CV2938416	single nucleotide variant	NM_000117.3(EMD):c.187+13C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003639382]	likely benign	X	154379807	154379807	Human	1	name
405175931	CV2947693	single nucleotide variant	NM_000117.3(EMD):c.450-17C>G	X-linked Emery-Dreifuss muscular dystrophy [RCV003639026]	likely benign	X	154380865	154380865	Human	1	name
405182775	CV2978762	deletion	NM_000117.3(EMD):c.188-20del	X-linked Emery-Dreifuss muscular dystrophy [RCV003639864]	likely benign	X	154379922	154379922	Human	1	name
405182904	CV2989078	single nucleotide variant	NM_000117.3(EMD):c.450-14C>G	X-linked Emery-Dreifuss muscular dystrophy [RCV003639881]	likely benign	X	154380868	154380868	Human	1	name
405184638	CV2992827	single nucleotide variant	NM_000117.3(EMD):c.187+11C>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003640078]	likely benign	X	154379805	154379805	Human	1	name
405184511	CV2995883	single nucleotide variant	NM_000117.3(EMD):c.265+10G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003640064]	likely benign	X	154380029	154380029	Human	1	name
405183834	CV3001418	single nucleotide variant	NM_000117.3(EMD):c.399+16G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003640001]	likely benign	X	154380383	154380383	Human	1	name
405186792	CV3021678	single nucleotide variant	NM_000117.3(EMD):c.188-12C>G	X-linked Emery-Dreifuss muscular dystrophy [RCV003640324]	likely benign	X	154379930	154379930	Human	1	name
405166720	CV3022517	single nucleotide variant	NM_000117.3(EMD):c.449+18C>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003638129]	likely benign	X	154380820	154380820	Human	1	name
405168033	CV3023974	single nucleotide variant	NM_000117.3(EMD):c.450-17C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003638214]	likely benign	X	154380865	154380865	Human	1	name
405167676	CV3029975	single nucleotide variant	NM_000117.3(EMD):c.449+17C>G	X-linked Emery-Dreifuss muscular dystrophy [RCV003638183]	likely benign	X	154380819	154380819	Human	1	name
405169648	CV3046466	single nucleotide variant	NM_000117.3(EMD):c.187+20G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003638383]	benign	X	154379814	154379814	Human	1	name
405171099	CV3055847	single nucleotide variant	NM_000117.3(EMD):c.449+20A>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003638514]	likely benign	X	154380822	154380822	Human	1	name
405176235	CV3058960	single nucleotide variant	NM_000117.3(EMD):c.400-12T>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003639137]	likely benign	X	154380741	154380741	Human	1	name
404983897	CV3121569	single nucleotide variant	NM_000117.3(EMD):c.265+12G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003826368]	likely benign	X	154380031	154380031	Human	1	name
405184413	CV3124147	single nucleotide variant	NM_000117.3(EMD):c.265+11G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003820345]	likely benign	X	154380030	154380030	Human	1	name
405216902	CV3124772	single nucleotide variant	NM_000117.3(EMD):c.400-15G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003824135]	likely benign	X	154380738	154380738	Human	1	name
405106999	CV3136213	single nucleotide variant	NM_000117.3(EMD):c.266-13C>A	X-linked Emery-Dreifuss muscular dystrophy [RCV003835559]	likely benign	X	154380221	154380221	Human	1	name
405083668	CV3137599	single nucleotide variant	NM_000117.3(EMD):c.400-11C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV003834308]	likely benign	X	154380742	154380742	Human	1	name
405067061	CV3148934	single nucleotide variant	NM_000117.3(EMD):c.400-15G>C	X-linked Emery-Dreifuss muscular dystrophy [RCV003850696]	likely benign	X	154380738	154380738	Human	1	name
405233311	CV3168010	single nucleotide variant	NM_000117.3(EMD):c.188-15C>G	X-linked Emery-Dreifuss muscular dystrophy [RCV003865678]	likely benign	X	154379927	154379927	Human	1	name
402488926	CV3182248	single nucleotide variant	NM_000117.3(EMD):c.400-17C>G	X-linked Emery-Dreifuss muscular dystrophy [RCV003876734]	likely benign	X	154380736	154380736	Human	1	name
597950404	CV3768645	single nucleotide variant	NM_000117.3(EMD):c.449+19C>G	X-linked Emery-Dreifuss muscular dystrophy [RCV005120831]	likely benign	X	154380821	154380821	Human	1	name
597941224	CV3769106	single nucleotide variant	NM_000117.3(EMD):c.399+17G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV005118601]	likely benign	X	154380384	154380384	Human	1	name
597877072	CV3776095	single nucleotide variant	NM_000117.3(EMD):c.449+11G>T	X-linked Emery-Dreifuss muscular dystrophy [RCV005123623]	likely benign	X	154380813	154380813	Human	1	name
12839959	CV378000	single nucleotide variant	NM_000117.3(EMD):c.400-20G>A	X-linked Emery-Dreifuss muscular dystrophy [RCV002061384]\|not specified [RCV000429784]	benign\|likely benign	X	154380733	154380733	Human	1	name
12845338	CV379132	single nucleotide variant	NM_000117.3(EMD):c.400-14A>G	X-linked Emery-Dreifuss muscular dystrophy [RCV002062450]\|not specified [RCV000439636]	benign\|likely benign	X	154380739	154380739	Human	1	name
12845195	CV379233	single nucleotide variant	NM_000117.3(EMD):c.266-19C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002059004]\|not specified [RCV000439370]	likely benign	X	154380215	154380215	Human	1	name
12838688	CV379993	single nucleotide variant	NM_000117.3(EMD):c.188-18C>G	X-linked Emery-Dreifuss muscular dystrophy [RCV002064963]\|not specified [RCV000427410]	likely benign	X	154379924	154379924	Human	1	name
12848082	CV379994	single nucleotide variant	NM_000117.3(EMD):c.188-13C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV002062600]\|not provided [RCV001703799]	likely benign	X	154379929	154379929	Human	1	name
597949628	CV3852993	single nucleotide variant	NM_000117.3(EMD):c.187+11C>T	X-linked Emery-Dreifuss muscular dystrophy [RCV005189874]	likely benign	X	154379805	154379805	Human	1	name
616937151	CV4011318	single nucleotide variant	NM_000117.3(EMD):c.266-96A>G	not specified [RCV005405164]	likely benign	X	154380138	154380138	Human		name
14729523	CV671094	single nucleotide variant	NM_000117.3(EMD):c.188-52G>A	not provided [RCV000835261]	likely benign	X	154379890	154379890	Human		name
26918727	CV852474	single nucleotide variant	NM_000117.3(EMD):c.399+10C>T	Emery-Dreifuss muscular dystrophy [RCV001827269]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001044139]\|not specified [RCV005418964]	likely benign\|uncertain significance	X	154380377	154380377	Human	1	name
13211689	CV426738	deletion	NM_000117.3(EMD):c.46_82+6del	not provided [RCV000497779]	likely pathogenic	X	154379530	154379572	Human		name
13533365	CV507957	microsatellite	NM_000117.3(EMD):c.400-13CT[2]	X-linked Emery-Dreifuss muscular dystrophy [RCV002064329]\|not provided [RCV001698049]	benign\|likely benign	X	154380740	154380741	Human		name
150414962	CV1178702	microsatellite	NM_000117.3(EMD):c.*88AGGGGC[1]	not provided [RCV001548365]	likely benign	X	154381280	154381285	Human		name
8562227	CV26214	single nucleotide variant	EMD, IVSAS, A-G, -3, 214-BP INS	X-linked Emery-Dreifuss muscular dystrophy [RCV000011925]	pathogenic				Human		name , alternate_id
597882456	CV3857583	deletion	NM_000117.3(EMD):c.439_449+3del	X-linked Emery-Dreifuss muscular dystrophy [RCV005199207]	pathogenic	X	154380791	154380804	Human	1	name
156003011	CV2170313	single nucleotide variant	NM_000117.3(EMD):c.9C>T (p.Asn3=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003017363]	likely benign	X	154379493	154379493	Human	1	name
152078285	CV1557714	single nucleotide variant	NM_000117.3(EMD):c.15A>G (p.Ala5=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002170217]	likely benign	X	154379499	154379499	Human	1	name
11637382	CV274863	single nucleotide variant	NM_000117.3(EMD):c.12C>T (p.Tyr4=)	Cardiomyopathy [RCV003150155]\|Cardiovascular phenotype [RCV002379153]\|EMD-related disorder [RCV003949950]\|Emery-Dreifuss muscular dystrophy [RCV001833411]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001085328]\|not provided [RCV000726522]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154379496	154379496	Human	4	name , trait , alternate_id
405186068	CV3016138	deletion	NM_000117.3(EMD):c.266-10_266-9del	X-linked Emery-Dreifuss muscular dystrophy [RCV003640239]	likely benign	X	154380220	154380221	Human	1	name
597903327	CV3845927	duplication	NM_000117.3(EMD):c.400-11_400-5dup	X-linked Emery-Dreifuss muscular dystrophy [RCV005181549]	likely benign	X	154380739	154380740	Human	1	name
597931643	CV3863254	single nucleotide variant	NM_000117.3(EMD):c.27T>C (p.Asp9=)	X-linked Emery-Dreifuss muscular dystrophy [RCV005206780]	likely benign	X	154379511	154379511	Human	1	name
127265383	CV1065237	single nucleotide variant	NM_000117.3(EMD):c.2T>G (p.Met1Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV001388435]	pathogenic	X	154379486	154379486	Human	1	name
127255103	CV1086458	single nucleotide variant	NM_000117.3(EMD):c.30C>G (p.Thr10=)	Cardiovascular phenotype [RCV002322432]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001418679]	likely benign	X	154379514	154379514	Human	2	name
127265352	CV1086459	single nucleotide variant	NM_000117.3(EMD):c.39C>T (p.Thr13=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001403551]	likely benign	X	154379523	154379523	Human	1	name
127317052	CV1129548	single nucleotide variant	NM_000117.3(EMD):c.33G>A (p.Glu11=)	Cardiovascular phenotype [RCV002456794]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001465722]	likely benign	X	154379517	154379517	Human	2	name
127314002	CV1129549	single nucleotide variant	NM_000117.3(EMD):c.46C>T (p.Leu16=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001464817]	likely benign	X	154379530	154379530	Human	1	name
127316835	CV1150593	single nucleotide variant	NM_000117.3(EMD):c.39C>A (p.Thr13=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001503155]	likely benign	X	154379523	154379523	Human	1	name
150336005	CV1173557	duplication	NM_000117.3(EMD):c.266-35_266-18dup	Emery-Dreifuss muscular dystrophy [RCV001826387]\|not provided [RCV001540797]\|not specified [RCV001797844]	benign	X	154380194	154380195	Human	1	name
151846567	CV1495224	single nucleotide variant	NM_000117.3(EMD):c.52C>A (p.Arg18=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001978359]	uncertain significance	X	154379536	154379536	Human	1	name
155674452	CV1810144	single nucleotide variant	NM_000117.3(EMD):c.54G>A (p.Arg18=)	Cardiovascular phenotype [RCV002351645]	likely benign	X	154379538	154379538	Human		name
155729041	CV1822723	single nucleotide variant	NM_000117.3(EMD):c.72G>T (p.Gly24=)	Cardiovascular phenotype [RCV002382781]	likely benign	X	154379556	154379556	Human		name
156407777	CV1872991	single nucleotide variant	NM_000117.3(EMD):c.63C>T (p.Ile21=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003071010]	likely benign	X	154379547	154379547	Human	1	name
156215434	CV2015209	single nucleotide variant	NM_000117.3(EMD):c.66G>T (p.Pro22=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002700794]	likely benign	X	154379550	154379550	Human	1	name
156318421	CV2090477	single nucleotide variant	NM_000117.3(EMD):c.96G>A (p.Arg32=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002899134]	likely benign	X	154379703	154379703	Human	1	name
156266952	CV2189280	single nucleotide variant	NM_000117.3(EMD):c.30C>T (p.Thr10=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003044317]	likely benign	X	154379514	154379514	Human	1	name
11095391	CV231345	single nucleotide variant	NM_000117.3(EMD):c.57C>T (p.Tyr19=)	X-linked Emery-Dreifuss muscular dystrophy [RCV000232450]\|not specified [RCV000222250]	likely benign	X	154379541	154379541	Human	1	name
11347903	CV243723	duplication	NM_000117.2(EMD):c.-248_*326dup1339	X-linked Emery-Dreifuss muscular dystrophy [RCV000233688]	uncertain significance	X	154379237	154381523	Human	1	name
8562224	CV26211	single nucleotide variant	NM_000117.3(EMD):c.1A>G (p.Met1Val)	X-linked Emery-Dreifuss muscular dystrophy [RCV000802953]\|not provided [RCV000254894]	pathogenic	X	154379485	154379485	Human	1	name
11658812	CV265324	single nucleotide variant	NM_000117.3(EMD):c.3G>A (p.Met1Ile)	X-linked Emery-Dreifuss muscular dystrophy [RCV001068392]\|not provided [RCV000518435]	pathogenic	X	154379487	154379487	Human	1	name
405062798	CV2863435	single nucleotide variant	NM_000117.3(EMD):c.66G>A (p.Pro22=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003523211]	likely benign	X	154379550	154379550	Human	1	name
405185984	CV3005635	single nucleotide variant	NM_000117.3(EMD):c.48G>T (p.Leu16=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003640230]	likely benign	X	154379532	154379532	Human	1	name
405185456	CV3014726	single nucleotide variant	NM_000117.3(EMD):c.87A>G (p.Ser29=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003640169]	likely benign	X	154379694	154379694	Human	1	name
405261961	CV3184854	deletion	NM_000117.3(EMD):c.22del (p.Ser8fs)	X-linked myopathy with postural muscle atrophy [RCV003885427]	pathogenic\|likely pathogenic	X	154379504	154379504	Human	1	name
597838224	CV3758191	single nucleotide variant	NM_000117.3(EMD):c.69C>T (p.His23=)	X-linked Emery-Dreifuss muscular dystrophy [RCV005086025]	likely benign	X	154379553	154379553	Human	1	name
597892289	CV3822881	single nucleotide variant	NM_000117.3(EMD):c.51C>T (p.Arg17=)	X-linked Emery-Dreifuss muscular dystrophy [RCV005179957]	likely benign	X	154379535	154379535	Human	1	name
597878083	CV3860355	single nucleotide variant	NM_000117.3(EMD):c.9C>G (p.Asn3Lys)	X-linked Emery-Dreifuss muscular dystrophy [RCV005198564]	uncertain significance	X	154379493	154379493	Human	1	name
616934272	CV4012267	deletion	NM_000117.3(EMD):c.400-15_400-12del	not specified [RCV005409303]	likely benign	X	154380736	154380739	Human		name
14351803	CV608976	deletion	NM_000117.3(EMD):c.16del (p.Asp6fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV000754753]	likely pathogenic	X	154379500	154379500	Human	1	name
127257336	CV1086461	single nucleotide variant	NM_000117.3(EMD):c.117C>T (p.Phe39=)	Cardiovascular phenotype [RCV004038166]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001419250]	likely benign	X	154379724	154379724	Human	2	name
127251232	CV1086463	single nucleotide variant	NM_000117.3(EMD):c.189C>T (p.Asp63=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001417739]	likely benign	X	154379943	154379943	Human	1	name
127249023	CV1108184	single nucleotide variant	NM_000117.3(EMD):c.246T>A (p.Ala82=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001425036]	likely benign	X	154380000	154380000	Human	1	name
127247317	CV1108185	single nucleotide variant	NM_000117.3(EMD):c.252C>T (p.Leu84=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001424669]	likely benign	X	154380006	154380006	Human	1	name
127273334	CV1108186	single nucleotide variant	NM_000117.3(EMD):c.294C>T (p.Ser98=)	Cardiovascular phenotype [RCV002439004]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001431603]	likely benign	X	154380262	154380262	Human	2	name
127301207	CV1129551	single nucleotide variant	NM_000117.3(EMD):c.198G>T (p.Ser66=)	Cardiovascular phenotype [RCV004038602]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001461325]	likely benign	X	154379952	154379952	Human	2	name
127300074	CV1129552	single nucleotide variant	NM_000117.3(EMD):c.240G>A (p.Glu80=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001461012]	likely benign	X	154379994	154379994	Human	1	name
127310881	CV1150594	single nucleotide variant	NM_000117.3(EMD):c.129C>T (p.Thr43=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001481265]	likely benign	X	154379736	154379736	Human	1	name
127333711	CV1150595	single nucleotide variant	NM_000117.3(EMD):c.153C>G (p.Pro51=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001490341]	likely benign	X	154379760	154379760	Human	1	name
127334772	CV1150596	single nucleotide variant	NM_000117.3(EMD):c.183C>T (p.Phe61=)	Cardiovascular phenotype [RCV002414189]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001491098]	likely benign	X	154379790	154379790	Human	2	name
127319830	CV1150597	single nucleotide variant	NM_000117.3(EMD):c.255C>T (p.Tyr85=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001483992]	likely benign	X	154380009	154380009	Human	1	name
127327512	CV1150598	single nucleotide variant	NM_000117.3(EMD):c.297C>T (p.Tyr99=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001486381]	likely benign	X	154380265	154380265	Human	1	name
150404285	CV1189377	single nucleotide variant	NM_000117.3(EMD):c.285T>C (p.Tyr95=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001563916]	conflicting interpretations of pathogenicity\|uncertain significance	X	154380253	154380253	Human	1	name
151811655	CV1359491	single nucleotide variant	NM_000117.3(EMD):c.23C>T (p.Ser8Leu)	X-linked Emery-Dreifuss muscular dystrophy [RCV001991887]	uncertain significance	X	154379507	154379507	Human	1	name
151741347	CV1494796	single nucleotide variant	NM_000117.3(EMD):c.207G>A (p.Gly69=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001968174]	likely benign	X	154379961	154379961	Human	1	name
152048388	CV1519911	single nucleotide variant	NM_000117.3(EMD):c.270C>T (p.Tyr90=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002145356]	likely benign	X	154380238	154380238	Human	1	name
152111846	CV1539135	single nucleotide variant	NM_000117.3(EMD):c.114C>A (p.Ile38=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002080360]	likely benign	X	154379721	154379721	Human	1	name
152157105	CV1541705	single nucleotide variant	NM_000117.3(EMD):c.231C>T (p.Pro77=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002103086]	likely benign	X	154379985	154379985	Human	1	name
152125697	CV1630277	single nucleotide variant	NM_000117.3(EMD):c.114C>T (p.Ile38=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002154840]	likely benign	X	154379721	154379721	Human	1	name
155713539	CV1830050	single nucleotide variant	NM_000117.3(EMD):c.147G>T (p.Ser49=)	Cardiovascular phenotype [RCV002397118]	likely benign	X	154379754	154379754	Human		name
155733642	CV1842674	single nucleotide variant	NM_000117.3(EMD):c.18T>A (p.Asp6Glu)	Cardiovascular phenotype [RCV002408245]	uncertain significance	X	154379502	154379502	Human		name
156397134	CV1871011	single nucleotide variant	NM_000117.3(EMD):c.180C>T (p.Ser60=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003068746]	likely benign	X	154379787	154379787	Human	1	name
156288993	CV1926412	single nucleotide variant	NM_000117.3(EMD):c.177T>C (p.Tyr59=)	Cardiovascular phenotype [RCV004070723]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002628733]	benign\|likely benign	X	154379784	154379784	Human	2	name
156298248	CV1955420	single nucleotide variant	NM_000117.3(EMD):c.231C>G (p.Pro77=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002578108]	likely benign	X	154379985	154379985	Human	1	name
10055774	CV198539	single nucleotide variant	NM_000117.3(EMD):c.20T>A (p.Leu7His)	X-linked Emery-Dreifuss muscular dystrophy [RCV001852356]\|not provided [RCV000183447]	uncertain significance	X	154379504	154379504	Human	1	name
155981726	CV2078468	single nucleotide variant	NM_000117.3(EMD):c.105G>A (p.Glu35=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002863801]	likely benign	X	154379712	154379712	Human	1	name
11040387	CV224584	single nucleotide variant	NM_000117.3(EMD):c.23C>G (p.Ser8Trp)	Primary dilated cardiomyopathy [RCV000208426]\|X-linked Emery-Dreifuss muscular dystrophy [RCV003522948]	uncertain significance	X	154379507	154379507	Human	2	name
11632768	CV264819	deletion	NM_000117.3(EMD):c.60del (p.Asn20fs)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492025]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000526347]\|not provided [RCV000283932]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	X	154379544	154379544	Human	2	name
404990333	CV2882980	single nucleotide variant	NM_000117.3(EMD):c.162C>T (p.Ser54=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003524988]	likely benign	X	154379769	154379769	Human	1	name
404993430	CV2894974	single nucleotide variant	NM_000117.3(EMD):c.102C>T (p.Tyr34=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003525337]	likely benign	X	154379709	154379709	Human	1	name
405180907	CV2954817	single nucleotide variant	NM_000117.3(EMD):c.249A>G (p.Leu83=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003639522]	likely benign	X	154380003	154380003	Human	1	name
405698099	CV3385183	single nucleotide variant	NM_000117.3(EMD):c.225T>C (p.Asp75=)	Cardiovascular phenotype [RCV004520490]	likely benign	X	154379979	154379979	Human		name
597951092	CV3765324	single nucleotide variant	NM_000117.3(EMD):c.198G>C (p.Ser66=)	X-linked Emery-Dreifuss muscular dystrophy [RCV005120968]	likely benign	X	154379952	154379952	Human	1	name
12844113	CV379991	single nucleotide variant	NM_000117.3(EMD):c.108G>A (p.Lys36=)	Cardiovascular phenotype [RCV004022343]\|X-linked Emery-Dreifuss muscular dystrophy [RCV003522967]\|not provided [RCV000437417]\|not specified [RCV001700370]	benign\|likely benign	X	154379715	154379715	Human	2	name
12835234	CV379992	single nucleotide variant	NM_000117.3(EMD):c.171C>T (p.Ser57=)	Cardiovascular phenotype [RCV002411328]\|Emery-Dreifuss muscular dystrophy [RCV001828412]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001400969]\|not provided [RCV000726639]\|not specified [RCV000421335]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154379778	154379778	Human	2	name
597974433	CV3831639	single nucleotide variant	NM_000117.3(EMD):c.252C>G (p.Leu84=)	X-linked Emery-Dreifuss muscular dystrophy [RCV005168578]	likely benign	X	154380006	154380006	Human	1	name
13503400	CV472104	single nucleotide variant	NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV000543940]	pathogenic	X	154379496	154379496	Human	1	name
13522510	CV492103	single nucleotide variant	NM_000117.3(EMD):c.243C>T (p.Asp81=)	Cardiovascular phenotype [RCV002456307]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001088435]\|not provided [RCV000591828]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154379997	154379997	Human	2	name
13523421	CV492207	single nucleotide variant	NM_000117.3(EMD):c.144C>G (p.Leu48=)	Cardiovascular phenotype [RCV002395530]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001441780]\|not provided [RCV000592967]	likely benign\|uncertain significance	X	154379751	154379751	Human	2	name
13519754	CV492363	single nucleotide variant	NM_000117.3(EMD):c.168C>T (p.Ala56=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002532555]\|not provided [RCV000598121]	likely benign\|uncertain significance	X	154379775	154379775	Human	1	name
8605117	CV51441	single nucleotide variant	NM_000117.3(EMD):c.144C>T (p.Leu48=)	Cardiomyopathy [RCV000770586]\|Cardiovascular phenotype [RCV000617921]\|EMD-related disorder [RCV003904897]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000461030]\|not specified [RCV000035104]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154379751	154379751	Human	4	name , trait , alternate_id
13815393	CV573733	single nucleotide variant	NM_000117.3(EMD):c.267C>G (p.Gly89=)	Cardiovascular phenotype [RCV002424714]\|Emery-Dreifuss muscular dystrophy [RCV001830561]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000705677]	likely benign\|uncertain significance	X	154380235	154380235	Human	2	name
14689695	CV621689	single nucleotide variant	NM_000117.3(EMD):c.276C>T (p.Asp92=)	Cardiovascular phenotype [RCV003344039]\|EMD-related disorder [RCV004756035]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000862711]\|not provided [RCV001702560]\|not specified [RCV000780222]	likely benign\|uncertain significance	X	154380244	154380244	Human	2	name , trait , alternate_id
15140818	CV694841	single nucleotide variant	NM_000117.3(EMD):c.132G>A (p.Gln44=)	Emery-Dreifuss muscular dystrophy [RCV001825774]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001490496]	likely benign	X	154379739	154379739	Human	1	name
15137136	CV773911	single nucleotide variant	NM_000117.3(EMD):c.153C>A (p.Pro51=)	Emery-Dreifuss muscular dystrophy [RCV001279589]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000943189]	likely benign	X	154379760	154379760	Human	1	name
15143295	CV773912	single nucleotide variant	NM_000117.3(EMD):c.153C>T (p.Pro51=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001476499]	likely benign	X	154379760	154379760	Human	1	name
15192992	CV773913	single nucleotide variant	NM_000117.3(EMD):c.234G>A (p.Lys78=)	Cardiovascular phenotype [RCV004994128]\|Emery-Dreifuss muscular dystrophy [RCV001832125]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000933240]\|not provided [RCV001726375]\|not specified [RCV001700511]	benign\|likely benign	X	154379988	154379988	Human	2	name
21073870	CV792171	single nucleotide variant	NM_000117.3(EMD):c.12C>A (p.Tyr4Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV000991009]	pathogenic	X	154379496	154379496	Human	1	name
26897064	CV849826	duplication	NM_000117.3(EMD):c.77dup (p.Val27fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001065164]	pathogenic	X	154379560	154379561	Human	1	name
39456245	CV966495	single nucleotide variant	NM_000117.3(EMD):c.19C>T (p.Leu7Phe)	Cardiovascular phenotype [RCV005400759]	uncertain significance	X	154379503	154379503	Human		name
126756166	CV1014834	single nucleotide variant	NM_000117.3(EMD):c.74C>T (p.Pro25Leu)	X-linked Emery-Dreifuss muscular dystrophy [RCV001327918]	uncertain significance	X	154379558	154379558	Human	1	name
126912230	CV1052352	single nucleotide variant	NM_000117.3(EMD):c.31G>A (p.Glu11Lys)	Cardiovascular phenotype [RCV005330776]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001369629]	uncertain significance	X	154379515	154379515	Human	2	name
127265391	CV1065239	deletion	NM_000117.3(EMD):c.153del (p.Ser52fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001388437]	pathogenic	X	154379755	154379755	Human	1	name
127271524	CV1086464	single nucleotide variant	NM_000117.3(EMD):c.351C>T (p.Val117=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001405365]	likely benign	X	154380319	154380319	Human	1	name
127254764	CV1086466	single nucleotide variant	NM_000117.3(EMD):c.492C>T (p.Ile164=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001400864]	likely benign	X	154380924	154380924	Human	1	name
127251851	CV1086467	single nucleotide variant	NM_000117.3(EMD):c.510T>C (p.Val170=)	Cardiovascular phenotype [RCV004995752]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001400218]	likely benign	X	154380942	154380942	Human	2	name
127262542	CV1086468	single nucleotide variant	NM_000117.3(EMD):c.579C>A (p.Ser193=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001402670]	likely benign	X	154381011	154381011	Human	1	name
127264966	CV1086469	single nucleotide variant	NM_000117.3(EMD):c.582A>G (p.Ser194=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001403452]	likely benign	X	154381014	154381014	Human	1	name
127283281	CV1086470	single nucleotide variant	NM_000117.3(EMD):c.672G>A (p.Pro224=)	Cardiovascular phenotype [RCV002368287]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001411672]\|not provided [RCV004704533]	likely benign	X	154381104	154381104	Human	2	name
127231377	CV1086471	single nucleotide variant	NM_000117.3(EMD):c.688C>T (p.Leu230=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001395293]	likely benign	X	154381120	154381120	Human	1	name
127275175	CV1108187	single nucleotide variant	NM_000117.3(EMD):c.339G>A (p.Pro113=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001443227]	likely benign	X	154380307	154380307	Human	1	name
127275382	CV1108188	single nucleotide variant	NM_000117.3(EMD):c.369A>G (p.Ser123=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001443302]	likely benign	X	154380337	154380337	Human	1	name
127232449	CV1108189	single nucleotide variant	NM_000117.3(EMD):c.390C>T (p.Phe130=)	Cardiovascular phenotype [RCV003365387]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001421316]	likely benign	X	154380358	154380358	Human	2	name
127256343	CV1108190	single nucleotide variant	NM_000117.3(EMD):c.456C>T (p.Arg152=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001437670]	likely benign	X	154380888	154380888	Human	1	name
127311209	CV1129554	single nucleotide variant	NM_000117.3(EMD):c.558C>T (p.Ser186=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001456815]	likely benign	X	154380990	154380990	Human	1	name
127291166	CV1129555	single nucleotide variant	NM_000117.3(EMD):c.591C>G (p.Ser197=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001451429]	likely benign	X	154381023	154381023	Human	1	name
127289445	CV1129556	single nucleotide variant	NM_000117.3(EMD):c.717C>T (p.Leu239=)	Emery-Dreifuss muscular dystrophy [RCV001832583]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001450907]	likely benign	X	154381149	154381149	Human	1	name
127307759	CV1150600	single nucleotide variant	NM_000117.3(EMD):c.459C>G (p.Pro153=)	Cardiovascular phenotype [RCV004037204]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001480390]	likely benign	X	154380891	154380891	Human	2	name
127306921	CV1150601	single nucleotide variant	NM_000117.3(EMD):c.720C>T (p.Phe240=)	Cardiovascular phenotype [RCV002377825]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001480203]	likely benign	X	154381152	154381152	Human	2	name
150332906	CV1164592	single nucleotide variant	NM_000117.3(EMD):c.603C>T (p.Leu201=)	Cardiovascular phenotype [RCV004616751]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002070346]\|not provided [RCV001528539]	likely benign	X	154381035	154381035	Human	2	name
150338541	CV1174395	deletion	NM_000117.3(EMD):c.125del (p.Glu42fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001542506]	pathogenic	X	154379732	154379732	Human	1	name
151878867	CV1383580	single nucleotide variant	NM_000117.3(EMD):c.37A>C (p.Thr13Pro)	X-linked Emery-Dreifuss muscular dystrophy [RCV001907410]	uncertain significance	X	154379521	154379521	Human	1	name
151764998	CV1407739	single nucleotide variant	NM_000117.3(EMD):c.82G>C (p.Gly28Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV002044690]	uncertain significance	X	154379566	154379566	Human	1	name
151763552	CV1433989	single nucleotide variant	NM_000117.3(EMD):c.92G>T (p.Arg31Leu)	Cardiovascular phenotype [RCV002372816]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002024651]	uncertain significance	X	154379699	154379699	Human	2	name
151737373	CV1489834	single nucleotide variant	NM_000117.3(EMD):c.74C>G (p.Pro25Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV001892915]	uncertain significance	X	154379558	154379558	Human	1	name
152175539	CV1526874	single nucleotide variant	NM_000117.3(EMD):c.321G>A (p.Glu107=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002163674]	likely benign	X	154380289	154380289	Human	1	name
152038781	CV1538147	single nucleotide variant	NM_000117.3(EMD):c.33G>C (p.Glu11Asp)	X-linked Emery-Dreifuss muscular dystrophy [RCV002206021]	likely benign	X	154379517	154379517	Human	1	name
152073553	CV1556651	single nucleotide variant	NM_000117.3(EMD):c.735C>T (p.Phe245=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002111788]	likely benign	X	154381167	154381167	Human	1	name
152093884	CV1561683	single nucleotide variant	NM_000117.3(EMD):c.534C>T (p.Asp178=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002194655]	likely benign	X	154380966	154380966	Human	1	name
152044114	CV1584170	single nucleotide variant	NM_000117.3(EMD):c.309G>A (p.Arg103=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002071392]	likely benign	X	154380277	154380277	Human	1	name
152035055	CV1590289	single nucleotide variant	NM_000117.3(EMD):c.402G>C (p.Val134=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002205447]	likely benign	X	154380755	154380755	Human	1	name
152096773	CV1623465	single nucleotide variant	NM_000117.3(EMD):c.591C>T (p.Ser197=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002213463]	likely benign	X	154381023	154381023	Human	1	name
152088192	CV1626111	single nucleotide variant	NM_000117.3(EMD):c.535C>T (p.Leu179=)	Cardiovascular phenotype [RCV002346501]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002131714]	likely benign	X	154380967	154380967	Human	2	name
152029971	CV1664874	single nucleotide variant	NM_000117.3(EMD):c.411C>T (p.Asp137=)	Cardiovascular phenotype [RCV003161519]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002105769]	likely benign	X	154380764	154380764	Human	2	name
9691627	CV176797	single nucleotide variant	NM_000117.3(EMD):c.711C>T (p.Ile237=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001416485]\|not specified [RCV000150649]	likely benign	X	154381143	154381143	Human	1	name
9690215	CV178262	single nucleotide variant	NM_000117.3(EMD):c.70G>A (p.Gly24Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV000638218]\|not provided [RCV001571701]\|not specified [RCV000155888]	uncertain significance	X	154379554	154379554	Human	1	name
9690765	CV178291	single nucleotide variant	NM_000117.3(EMD):c.77T>C (p.Val26Ala)	Cardiovascular phenotype [RCV002408699]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV004719718]\|Emery-Dreifuss muscular dystrophy [RCV001826851]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001049941]\|not specified [RCV000156455]	likely pathogenic\|uncertain significance	X	154379561	154379561	Human	2	name
155683819	CV1792532	single nucleotide variant	NM_000117.3(EMD):c.345G>A (p.Arg115=)	Cardiovascular phenotype [RCV002457244]\|X-linked Emery-Dreifuss muscular dystrophy [RCV005096279]	likely benign	X	154380313	154380313	Human	2	name
155733422	CV1802047	single nucleotide variant	NM_000117.3(EMD):c.486G>A (p.Gln162=)	Cardiovascular phenotype [RCV002340410]	likely benign	X	154380918	154380918	Human		name
155665589	CV1804146	single nucleotide variant	NM_000117.3(EMD):c.621G>T (p.Arg207=)	Cardiovascular phenotype [RCV002366524]	likely benign	X	154381053	154381053	Human		name
155674009	CV1825678	single nucleotide variant	NM_000117.3(EMD):c.97C>G (p.Leu33Val)	Cardiovascular phenotype [RCV002387227]	uncertain significance	X	154379704	154379704	Human		name
155722139	CV1840762	duplication	NM_000117.3(EMD):c.217dup (p.Met73fs)	Cardiovascular phenotype [RCV002432875]	pathogenic	X	154379970	154379971	Human		name
156085400	CV1919486	single nucleotide variant	NM_000117.3(EMD):c.741G>A (p.Gln247=)	Cardiovascular phenotype [RCV003294530]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002591717]	likely benign	X	154381173	154381173	Human	2	name
156435362	CV1940719	single nucleotide variant	NM_000117.3(EMD):c.576C>G (p.Ser192=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003104824]	likely benign	X	154381008	154381008	Human	1	name
156437457	CV1947465	single nucleotide variant	NM_000117.3(EMD):c.555C>T (p.Ser185=)	Cardiovascular phenotype [RCV004621752]\|X-linked Emery-Dreifuss muscular dystrophy [RCV003106995]	likely benign	X	154380987	154380987	Human	2	name
156137068	CV1962970	single nucleotide variant	NM_000117.3(EMD):c.639T>G (p.Pro213=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002572435]	likely benign	X	154381071	154381071	Human	1	name
156329542	CV1969846	single nucleotide variant	NM_000117.3(EMD):c.723C>T (p.Phe241=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002600717]	likely benign	X	154381155	154381155	Human	1	name
156009068	CV1981569	single nucleotide variant	NM_000117.3(EMD):c.303C>T (p.Thr101=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002618808]	likely benign	X	154380271	154380271	Human	1	name
10055775	CV198540	single nucleotide variant	NM_000117.3(EMD):c.65C>T (p.Pro22Leu)	X-linked Emery-Dreifuss muscular dystrophy [RCV001348561]\|not provided [RCV000183448]	uncertain significance	X	154379549	154379549	Human	1	name
156035589	CV2052513	single nucleotide variant	NM_000117.3(EMD):c.69C>G (p.His23Gln)	X-linked Emery-Dreifuss muscular dystrophy [RCV002796237]	uncertain significance	X	154379553	154379553	Human	1	name
155939340	CV2054818	single nucleotide variant	NM_000117.3(EMD):c.59A>G (p.Asn20Ser)	X-linked Emery-Dreifuss muscular dystrophy [RCV002815586]	uncertain significance	X	154379543	154379543	Human	1	name
155914836	CV2066139	single nucleotide variant	NM_000117.3(EMD):c.32A>G (p.Glu11Gly)	X-linked Emery-Dreifuss muscular dystrophy [RCV002837986]	uncertain significance	X	154379516	154379516	Human	1	name
156359563	CV2162359	single nucleotide variant	NM_000117.3(EMD):c.672G>C (p.Pro224=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003031464]	likely benign	X	154381104	154381104	Human	1	name
156172889	CV2166128	single nucleotide variant	NM_000117.3(EMD):c.520A>C (p.Arg174=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003023570]	likely benign	X	154380952	154380952	Human	1	name
156300497	CV2170111	single nucleotide variant	NM_000117.3(EMD):c.681C>A (p.Gly227=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003045527]	likely benign	X	154381113	154381113	Human	1	name
11345058	CV236821	single nucleotide variant	NM_000117.3(EMD):c.73C>A (p.Pro25Thr)	X-linked Emery-Dreifuss muscular dystrophy [RCV000806966]\|not provided [RCV001786347]\|not specified [RCV000223860]	uncertain significance	X	154379557	154379557	Human	1	name
11350540	CV236822	duplication	NM_000117.3(EMD):c.153dup (p.Ser52fs)	Cardiovascular phenotype [RCV000246169]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000697180]\|not provided [RCV000223909]	pathogenic	X	154379754	154379755	Human	2	name
329379834	CV2429986	single nucleotide variant	NM_000117.3(EMD):c.513A>G (p.Ser171=)	Cardiovascular phenotype [RCV003187378]	uncertain significance	X	154380945	154380945	Human		name
11641707	CV269284	single nucleotide variant	NM_000117.3(EMD):c.525C>T (p.Ser175=)	Cardiovascular phenotype [RCV002338845]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001082980]\|not provided [RCV000725575]\|not specified [RCV001795484]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380957	154380957	Human	2	name
11652626	CV270501	single nucleotide variant	NM_000117.3(EMD):c.549T>C (p.Pro183=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001476279]\|not provided [RCV000305985]	likely benign\|uncertain significance	X	154380981	154380981	Human	1	name
401929907	CV2824369	single nucleotide variant	NM_000117.3(EMD):c.648G>A (p.Gly216=)	not provided [RCV003440046]	likely benign	X	154381080	154381080	Human		name
405071729	CV2861508	single nucleotide variant	NM_000117.3(EMD):c.621G>C (p.Arg207=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003523872]	likely benign	X	154381053	154381053	Human	1	name
405051782	CV2876618	duplication	NM_000117.3(EMD):c.143dup (p.Ser49fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV003522201]	pathogenic	X	154379749	154379750	Human	1	name
404990193	CV2886613	single nucleotide variant	NM_000117.3(EMD):c.663C>T (p.Arg221=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003524974]	likely benign	X	154381095	154381095	Human	1	name
405068166	CV2900394	single nucleotide variant	NM_000117.3(EMD):c.86C>T (p.Ser29Leu)	X-linked Emery-Dreifuss muscular dystrophy [RCV003523629]	uncertain significance	X	154379693	154379693	Human	1	name
404986996	CV2910276	single nucleotide variant	NM_000117.3(EMD):c.95G>C (p.Arg32Thr)	X-linked Emery-Dreifuss muscular dystrophy [RCV003524657]	uncertain significance	X	154379702	154379702	Human	1	name
404986984	CV2915017	single nucleotide variant	NM_000117.3(EMD):c.92G>C (p.Arg31Pro)	X-linked Emery-Dreifuss muscular dystrophy [RCV003524656]	uncertain significance	X	154379699	154379699	Human	1	name
404986786	CV2917493	single nucleotide variant	NM_000117.3(EMD):c.327G>A (p.Glu109=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003524631]	likely benign	X	154380295	154380295	Human	1	name
405178643	CV2948565	single nucleotide variant	NM_000117.3(EMD):c.529C>T (p.Leu177=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003639391]	likely benign	X	154380961	154380961	Human	1	name
405184089	CV2998469	single nucleotide variant	NM_000117.3(EMD):c.561C>T (p.Ser187=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003640010]	likely benign	X	154380993	154380993	Human	1	name
405171571	CV3059798	single nucleotide variant	NM_000117.3(EMD):c.41C>A (p.Thr14Asn)	X-linked Emery-Dreifuss muscular dystrophy [RCV003638558]	uncertain significance	X	154379525	154379525	Human	1	name
405176798	CV3070368	single nucleotide variant	NM_000117.3(EMD):c.669C>T (p.Val223=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003639197]	likely benign	X	154381101	154381101	Human	1	name
405061407	CV3129572	single nucleotide variant	NM_000117.3(EMD):c.70G>C (p.Gly24Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV003832841]	uncertain significance	X	154379554	154379554	Human	1	name
405141013	CV3131205	single nucleotide variant	NM_000117.3(EMD):c.438G>A (p.Glu146=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003839245]	likely benign	X	154380791	154380791	Human	1	name
405202552	CV3165091	single nucleotide variant	NM_000117.3(EMD):c.543T>C (p.Tyr181=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003860952]	likely benign	X	154380975	154380975	Human	1	name
405196512	CV3168098	single nucleotide variant	NM_000117.3(EMD):c.516C>T (p.Ala172=)	X-linked Emery-Dreifuss muscular dystrophy [RCV003860230]	likely benign	X	154380948	154380948	Human	1	name
408393413	CV3525514	deletion	NM_000117.3(EMD):c.178del (p.Ser60fs)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV004771400]	pathogenic	X	154379785	154379785	Human	1	name
597732251	CV3667659	single nucleotide variant	NM_000117.3(EMD):c.393T>C (p.His131=)	Cardiovascular phenotype [RCV004996755]\|X-linked Emery-Dreifuss muscular dystrophy [RCV005110218]	likely benign	X	154380361	154380361	Human	2	name
597732255	CV3667662	single nucleotide variant	NM_000117.3(EMD):c.89C>T (p.Thr30Ile)	Cardiovascular phenotype [RCV004996757]	uncertain significance	X	154379696	154379696	Human		name
597732260	CV3667663	single nucleotide variant	NM_000117.3(EMD):c.336C>G (p.Gly112=)	Cardiovascular phenotype [RCV004996758]	likely benign	X	154380304	154380304	Human		name
12846855	CV379241	single nucleotide variant	NM_000117.3(EMD):c.702C>T (p.Val234=)	X-linked Emery-Dreifuss muscular dystrophy [RCV002521587]\|not specified [RCV000442442]	likely benign	X	154381134	154381134	Human	1	name
597975425	CV3799131	single nucleotide variant	NM_000117.3(EMD):c.71G>T (p.Gly24Val)	X-linked Emery-Dreifuss muscular dystrophy [RCV005144527]	uncertain significance	X	154379555	154379555	Human	1	name
12835082	CV379995	single nucleotide variant	NM_000117.3(EMD):c.333C>T (p.Ala111=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001397968]\|not specified [RCV000421076]	likely benign	X	154380301	154380301	Human	1	name
12835165	CV379996	single nucleotide variant	NM_000117.3(EMD):c.444G>A (p.Lys148=)	Cardiovascular phenotype [RCV005328264]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000866390]\|not specified [RCV000421217]	likely benign	X	154380797	154380797	Human	2	name
597878626	CV3825953	single nucleotide variant	NM_000117.3(EMD):c.447T>C (p.Asp149=)	X-linked Emery-Dreifuss muscular dystrophy [RCV005177827]	likely benign	X	154380800	154380800	Human	1	name
597975299	CV3832323	single nucleotide variant	NM_000117.3(EMD):c.306C>A (p.Thr102=)	X-linked Emery-Dreifuss muscular dystrophy [RCV005169060]	likely benign	X	154380274	154380274	Human	1	name
597913578	CV3850987	single nucleotide variant	NM_000117.3(EMD):c.753C>T (p.Gly251=)	X-linked Emery-Dreifuss muscular dystrophy [RCV005203955]	uncertain significance	X	154381185	154381185	Human	1	name
598129238	CV3888532	single nucleotide variant	NM_000117.3(EMD):c.58A>G (p.Asn20Asp)	not provided [RCV005244706]	uncertain significance	X	154379542	154379542	Human		name
12898224	CV404179	single nucleotide variant	NM_000117.3(EMD):c.432A>G (p.Glu144=)	Cardiovascular phenotype [RCV002329064]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000473962]\|not provided [RCV001704560]	benign\|likely benign\|uncertain significance	X	154380785	154380785	Human	2	name
12898194	CV404181	single nucleotide variant	NM_000117.3(EMD):c.489C>T (p.Ser163=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001445647]	likely benign	X	154380921	154380921	Human	1	name
12905727	CV413851	single nucleotide variant	NM_000117.3(EMD):c.82G>A (p.Gly28Arg)	Cardiovascular phenotype [RCV002431424]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001865504]\|not provided [RCV000487908]	likely pathogenic\|uncertain significance	X	154379566	154379566	Human	2	name
13477658	CV442404	single nucleotide variant	NM_000117.3(EMD):c.537G>A (p.Leu179=)	Cardiovascular phenotype [RCV002350136]\|Emery-Dreifuss muscular dystrophy [RCV001834665]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001081000]\|not provided [RCV000726975]\|not specified [RCV000516427]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380969	154380969	Human	2	name
13518248	CV489264	single nucleotide variant	NM_000117.3(EMD):c.423T>G (p.Ser141=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001459224]\|not provided [RCV000597174]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380776	154380776	Human	1	name
13518076	CV489682	single nucleotide variant	NM_000117.3(EMD):c.495G>T (p.Thr165=)	Cardiovascular phenotype [RCV002341518]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001089082]\|not provided [RCV000597033]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380927	154380927	Human	2	name
13527732	CV510928	single nucleotide variant	NM_000117.3(EMD):c.330T>C (p.Ser110=)	Cardiovascular phenotype [RCV000620188]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002066921]	likely benign	X	154380298	154380298	Human	2	name
13612007	CV514128	duplication	NM_000117.3(EMD):c.184dup (p.Ser62fs)	Myopathy [RCV000626613]	pathogenic	X	154379790	154379791	Human	2	name
8605119	CV51443	single nucleotide variant	NM_000117.3(EMD):c.396C>T (p.His132=)	Cardiomyopathy [RCV000770589]\|Cardiovascular phenotype [RCV000621249]\|EMD-related disorder [RCV003934887]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000474105]\|not provided [RCV001727518]\|not specified [RCV000035106]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	154380364	154380364	Human	4	name , trait , alternate_id
8605120	CV51444	single nucleotide variant	NM_000117.3(EMD):c.465C>T (p.Tyr155=)	Cardiomyopathy [RCV000770591]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003761740]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000234779]\|not provided [RCV004713178]\|not specified [RCV000035107]	benign	X	154380897	154380897	Human	4	name
8605122	CV51446	single nucleotide variant	NM_000117.3(EMD):c.495G>A (p.Thr165=)	Cardiovascular phenotype [RCV000248685]\|EMD-related disorder [RCV003934888]\|Emery-Dreifuss muscular dystrophy [RCV001826540]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000228467]\|not provided [RCV001705643]\|not specified [RCV000035109]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	X	154380927	154380927	Human	2	name , trait , alternate_id
13606385	CV534737	single nucleotide variant	NM_000117.3(EMD):c.83G>A (p.Gly28Glu)	X-linked Emery-Dreifuss muscular dystrophy [RCV000638220]	uncertain significance	X	154379690	154379690	Human	1	name
13606381	CV535110	duplication	NM_000117.3(EMD):c.135dup (p.Arg46fs)	Emery-Dreifuss muscular dystrophy [RCV001553580]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000638214]	pathogenic\|likely pathogenic	X	154379740	154379741	Human	1	name
13606389	CV535111	single nucleotide variant	NM_000117.3(EMD):c.315T>C (p.Tyr105=)	Cardiovascular phenotype [RCV003162853]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001480462]	likely benign	X	154380283	154380283	Human	2	name
13833965	CV585205	single nucleotide variant	NM_000117.3(EMD):c.408T>C (p.Asp136=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001492329]\|not provided [RCV000729359]	likely benign\|uncertain significance	X	154380761	154380761	Human	1	name
14689165	CV615181	single nucleotide variant	NM_000117.3(EMD):c.759C>G (p.Pro253=)	Cardiomyopathy [RCV000770593]	uncertain significance	X	154381191	154381191	Human	2	name
14740053	CV656755	single nucleotide variant	NM_000117.3(EMD):c.459C>T (p.Pro153=)	Cardiovascular phenotype [RCV002336739]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001086059]\|not provided [RCV000840171]	likely benign	X	154380891	154380891	Human	2	name
15128457	CV684975	single nucleotide variant	NM_000117.3(EMD):c.384C>T (p.Asp128=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001483226]	likely benign	X	154380352	154380352	Human	1	name
15132137	CV684976	single nucleotide variant	NM_000117.3(EMD):c.618C>T (p.Ile206=)	Cardiovascular phenotype [RCV002352515]\|Emery-Dreifuss muscular dystrophy [RCV001830870]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000863749]\|not provided [RCV001638001]	benign\|likely benign	X	154381050	154381050	Human	2	name
15103919	CV689435	single nucleotide variant	NM_000117.3(EMD):c.306C>T (p.Thr102=)	Cardiovascular phenotype [RCV004619444]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000870764]	likely benign	X	154380274	154380274	Human	2	name
15142636	CV689436	single nucleotide variant	NM_000117.3(EMD):c.585A>G (p.Ser195=)	Cardiovascular phenotype [RCV002352530]\|Emery-Dreifuss muscular dystrophy [RCV001279591]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000865584]	likely benign	X	154381017	154381017	Human	2	name
15139637	CV694842	single nucleotide variant	NM_000117.3(EMD):c.639T>C (p.Pro213=)	Cardiovascular phenotype [RCV002354700]\|Emery-Dreifuss muscular dystrophy [RCV001830928]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000877348]\|not provided [RCV001546716]\|not specified [RCV002469312]	benign\|likely benign	X	154381071	154381071	Human	2	name
15148684	CV758387	single nucleotide variant	NM_000117.3(EMD):c.330T>A (p.Ser110=)	X-linked Emery-Dreifuss muscular dystrophy [RCV000923142]	likely benign	X	154380298	154380298	Human	1	name
15142749	CV758388	single nucleotide variant	NM_000117.3(EMD):c.714C>T (p.Val238=)	Cardiovascular phenotype [RCV002363383]\|Emery-Dreifuss muscular dystrophy [RCV001832081]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000922075]	likely benign	X	154381146	154381146	Human	2	name
15112371	CV773914	single nucleotide variant	NM_000117.3(EMD):c.762C>T (p.Phe254=)	X-linked Emery-Dreifuss muscular dystrophy [RCV000938931]	likely benign	X	154381194	154381194	Human	1	name
15142790	CV786753	single nucleotide variant	NM_000117.3(EMD):c.330T>G (p.Ser110=)	X-linked Emery-Dreifuss muscular dystrophy [RCV000983217]	likely benign	X	154380298	154380298	Human	1	name
15102664	CV786754	single nucleotide variant	NM_000117.3(EMD):c.582A>C (p.Ser194=)	Cardiovascular phenotype [RCV002354866]\|Emery-Dreifuss muscular dystrophy [RCV001271617]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000975849]\|not specified [RCV005405467]	likely benign	X	154381014	154381014	Human	2	name
15101892	CV786755	single nucleotide variant	NM_000117.3(EMD):c.697C>T (p.Leu233=)	X-linked Emery-Dreifuss muscular dystrophy [RCV001487187]	likely benign	X	154381129	154381129	Human	1	name
38456327	CV951684	single nucleotide variant	NM_000117.3(EMD):c.651G>A (p.Leu217=)	Emery-Dreifuss muscular dystrophy [RCV001833972]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001228320]	likely benign\|uncertain significance	X	154381083	154381083	Human	1	name
126739752	CV999691	single nucleotide variant	NM_000117.3(EMD):c.85T>C (p.Ser29Pro)	X-linked Emery-Dreifuss muscular dystrophy [RCV001295658]	uncertain significance	X	154379692	154379692	Human	1	name
126769639	CV1014835	single nucleotide variant	NM_000117.3(EMD):c.242A>G (p.Asp81Gly)	Cardiovascular phenotype [RCV003166868]\|Emery-Dreifuss muscular dystrophy [RCV001830345]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001322086]	uncertain significance	X	154379996	154379996	Human	2	name
127237293	CV1036901	single nucleotide variant	NM_000117.3(EMD):c.173C>T (p.Ser58Phe)	Cardiovascular phenotype [RCV003365355]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001376155]	conflicting interpretations of pathogenicity\|uncertain significance	X	154379780	154379780	Human	2	name
127237286	CV1036903	deletion	NM_000117.3(EMD):c.631del (p.Arg211fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001376153]	pathogenic	X	154381062	154381062	Human	1	name
126922656	CV1052353	single nucleotide variant	NM_000117.3(EMD):c.176A>G (p.Tyr59Cys)	Cardiovascular phenotype [RCV002404869]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001364926]	uncertain significance	X	154379783	154379783	Human	2	name
126911687	CV1052354	single nucleotide variant	NM_000117.3(EMD):c.208G>T (p.Asp70Tyr)	X-linked Emery-Dreifuss muscular dystrophy [RCV001369340]	uncertain significance	X	154379962	154379962	Human	1	name
127265387	CV1065238	single nucleotide variant	NM_000117.3(EMD):c.102C>G (p.Tyr34Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV001388436]	pathogenic	X	154379709	154379709	Human	1	name
127252053	CV1065241	duplication	NM_000117.3(EMD):c.570dup (p.Met191fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001385621]	pathogenic	X	154380998	154380999	Human	1	name
150481614	CV1265656	single nucleotide variant	NM_000117.3(EMD):c.282C>A (p.Tyr94Ter)	not provided [RCV001682652]	pathogenic	X	154380250	154380250	Human		name
150448369	CV1274547	single nucleotide variant	NM_000117.3(EMD):c.148C>T (p.Pro50Ser)	Cardiovascular phenotype [RCV002388633]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001882774]\|not provided [RCV001700617]	uncertain significance	X	154379755	154379755	Human	2	name
150451601	CV1274849	single nucleotide variant	NM_000117.3(EMD):c.212C>T (p.Ala71Val)	not provided [RCV001703003]	likely benign	X	154379966	154379966	Human		name
150556213	CV1296760	single nucleotide variant	NM_000117.3(EMD):c.266G>A (p.Gly89Asp)	not provided [RCV001774050]	uncertain significance	X	154380234	154380234	Human		name
150555593	CV1304742	single nucleotide variant	NM_000117.3(EMD):c.124G>A (p.Glu42Lys)	not provided [RCV001772990]	uncertain significance	X	154379731	154379731	Human		name
151232958	CV1320037	single nucleotide variant	NM_000117.3(EMD):c.143T>G (p.Leu48Arg)	Cardiomyopathy [RCV001799393]	uncertain significance	X	154379750	154379750	Human	2	name
151348556	CV1324091	deletion	NM_000117.3(EMD):c.406del (p.Asp136fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001808004]	likely pathogenic	X	154380759	154380759	Human	1	name
151837516	CV1371657	single nucleotide variant	NM_000117.3(EMD):c.241G>A (p.Asp81Asn)	X-linked Emery-Dreifuss muscular dystrophy [RCV001921143]\|not provided [RCV002556420]	uncertain significance	X	154379995	154379995	Human	1	name
151860935	CV1374143	single nucleotide variant	NM_000117.3(EMD):c.137G>A (p.Arg46Gln)	X-linked Emery-Dreifuss muscular dystrophy [RCV001938533]	uncertain significance	X	154379744	154379744	Human	1	name
151744058	CV1427636	single nucleotide variant	NM_000117.3(EMD):c.218T>C (p.Met73Thr)	X-linked Emery-Dreifuss muscular dystrophy [RCV001893568]	uncertain significance	X	154379972	154379972	Human	1	name
151785772	CV1477736	deletion	NM_000117.3(EMD):c.570del (p.Phe190fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001972522]	pathogenic	X	154380999	154380999	Human	1	name
155670354	CV1852062	single nucleotide variant	NM_000117.3(EMD):c.264G>C (p.Lys88Asn)	Cardiomyopathy [RCV003150568]\|Cardiovascular phenotype [RCV002453058]\|X-linked Emery-Dreifuss muscular dystrophy [RCV005098235]	uncertain significance	X	154380018	154380018	Human	4	name
10055776	CV198541	single nucleotide variant	NM_000117.3(EMD):c.103G>A (p.Glu35Lys)	Cardiovascular phenotype [RCV002390469]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003491933]\|Emery-Dreifuss muscular dystrophy [RCV001827988]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000465491]	uncertain significance	X	154379710	154379710	Human	2	name
10055779	CV198544	single nucleotide variant	NM_000117.3(EMD):c.215A>T (p.Asp72Val)	Cardiovascular phenotype [RCV002415780]\|Emery-Dreifuss muscular dystrophy [RCV001827990]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001852357]\|not provided [RCV000726925]\|not specified [RCV001420800]	uncertain significance	X	154379969	154379969	Human	2	name
156349338	CV1989334	single nucleotide variant	NM_000117.3(EMD):c.110A>G (p.Lys37Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV002631865]	uncertain significance	X	154379717	154379717	Human	1	name
156028860	CV2039759	single nucleotide variant	NM_000117.3(EMD):c.139C>T (p.Arg47Trp)	X-linked Emery-Dreifuss muscular dystrophy [RCV002781024]	uncertain significance	X	154379746	154379746	Human	1	name
156317360	CV2082589	deletion	NM_000117.3(EMD):c.674del (p.Leu225fs)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492783]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002899074]	pathogenic\|likely pathogenic	X	154381106	154381106	Human	2	name
156310377	CV2133203	single nucleotide variant	NM_000117.3(EMD):c.206G>A (p.Gly69Glu)	Cardiovascular phenotype [RCV003308405]\|X-linked Emery-Dreifuss muscular dystrophy [RCV003011075]	uncertain significance	X	154379960	154379960	Human	2	name
155954050	CV2166243	single nucleotide variant	NM_000117.3(EMD):c.235A>G (p.Lys79Glu)	X-linked Emery-Dreifuss muscular dystrophy [RCV003015003]	uncertain significance	X	154379989	154379989	Human	1	name
8562228	CV26215	single nucleotide variant	NM_000117.3(EMD):c.130C>T (p.Gln44Ter)	Cardiovascular phenotype [RCV002381248]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000011926]\|not provided [RCV000078128]	pathogenic	X	154379737	154379737	Human	2	name
8562229	CV26216	deletion	NM_000117.3(EMD):c.615del (p.Ile206fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV000011927]	pathogenic	X	154381046	154381046	Human	1	name
11634192	CV264820	single nucleotide variant	NM_000117.3(EMD):c.103G>T (p.Glu35Ter)	not provided [RCV000406349]	pathogenic	X	154379710	154379710	Human		name
11636515	CV269401	single nucleotide variant	NM_000117.3(EMD):c.149C>A (p.Pro50His)	Cardiovascular phenotype [RCV004021174]\|Emery-Dreifuss muscular dystrophy [RCV001828211]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001370198]\|not provided [RCV000270229]	likely benign\|uncertain significance	X	154379756	154379756	Human	2	name
11640362	CV274742	single nucleotide variant	NM_000117.3(EMD):c.295T>C (p.Tyr99His)	X-linked Emery-Dreifuss muscular dystrophy [RCV000822646]\|not provided [RCV000336509]	uncertain significance	X	154380263	154380263	Human	1	name
401856575	CV2752489	single nucleotide variant	NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003340827]\|X-linked Emery-Dreifuss muscular dystrophy [RCV003523160]	pathogenic\|likely pathogenic	X	154380250	154380250	Human	2	name
401940757	CV2834299	single nucleotide variant	NM_000117.3(EMD):c.161C>T (p.Ser54Phe)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003460021]\|not specified [RCV005407160]	likely pathogenic\|uncertain significance	X	154379768	154379768	Human	1	name
405076620	CV2870961	single nucleotide variant	NM_000117.3(EMD):c.262A>T (p.Lys88Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV003524202]	pathogenic	X	154380016	154380016	Human	1	name
405066875	CV2902095	single nucleotide variant	NM_000117.3(EMD):c.256C>T (p.Gln86Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV003523391]	pathogenic	X	154380010	154380010	Human	1	name
405185007	CV2993402	single nucleotide variant	NM_000117.3(EMD):c.236A>G (p.Lys79Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV003640118]	uncertain significance	X	154379990	154379990	Human	1	name
405185082	CV3003741	single nucleotide variant	NM_000117.3(EMD):c.121T>G (p.Tyr41Asp)	X-linked Emery-Dreifuss muscular dystrophy [RCV003640127]	uncertain significance	X	154379728	154379728	Human	1	name
405186988	CV3024990	deletion	NM_000117.3(EMD):c.643del (p.Ala215fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV003640346]	pathogenic	X	154381072	154381072	Human	1	name
405171253	CV3054100	single nucleotide variant	NM_000117.3(EMD):c.152C>G (p.Pro51Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV003638410]	uncertain significance	X	154379759	154379759	Human	1	name
405176205	CV3062332	single nucleotide variant	NM_000117.3(EMD):c.237A>C (p.Lys79Asn)	X-linked Emery-Dreifuss muscular dystrophy [RCV003639134]	uncertain significance	X	154379991	154379991	Human	1	name
597732254	CV3667661	single nucleotide variant	NM_000117.3(EMD):c.277G>T (p.Asp93Tyr)	Cardiovascular phenotype [RCV004996756]\|X-linked Emery-Dreifuss muscular dystrophy [RCV005110219]	uncertain significance	X	154380245	154380245	Human	2	name
597732264	CV3667664	deletion	NM_000117.3(EMD):c.313del (p.Tyr105fs)	Cardiovascular phenotype [RCV004996759]	pathogenic	X	154380280	154380280	Human		name
12836184	CV377994	single nucleotide variant	NM_000117.3(EMD):c.166G>A (p.Ala56Thr)	Cardiovascular phenotype [RCV002402135]\|Emery-Dreifuss muscular dystrophy [RCV001828405]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000537218]\|not provided [RCV000422963]	likely benign\|uncertain significance	X	154379773	154379773	Human	2	name
597953436	CV3795541	single nucleotide variant	NM_000117.3(EMD):c.250C>G (p.Leu84Val)	X-linked Emery-Dreifuss muscular dystrophy [RCV005136551]	uncertain significance	X	154380004	154380004	Human	1	name
597954138	CV3795709	single nucleotide variant	NM_000117.3(EMD):c.284A>T (p.Tyr95Phe)	X-linked Emery-Dreifuss muscular dystrophy [RCV005136719]	uncertain significance	X	154380252	154380252	Human	1	name
597867900	CV3803273	single nucleotide variant	NM_000117.3(EMD):c.226C>T (p.Leu76Phe)	X-linked Emery-Dreifuss muscular dystrophy [RCV005147870]	uncertain significance	X	154379980	154379980	Human	1	name
597970931	CV3832683	single nucleotide variant	NM_000117.3(EMD):c.209A>G (p.Asp70Gly)	X-linked Emery-Dreifuss muscular dystrophy [RCV005166762]	uncertain significance	X	154379963	154379963	Human	1	name
597921925	CV3843162	single nucleotide variant	NM_000117.3(EMD):c.208G>A (p.Asp70Asn)	X-linked Emery-Dreifuss muscular dystrophy [RCV005184454]	uncertain significance	X	154379962	154379962	Human	1	name
597907073	CV3853520	single nucleotide variant	NM_000117.3(EMD):c.275A>G (p.Asp92Gly)	X-linked Emery-Dreifuss muscular dystrophy [RCV005202999]	uncertain significance	X	154380243	154380243	Human	1	name
12897179	CV404492	single nucleotide variant	NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV000458523]	pathogenic	X	154379730	154379730	Human	1	name
12906545	CV415752	single nucleotide variant	NM_000117.3(EMD):c.110A>T (p.Lys37Met)	Cardiovascular phenotype [RCV002431430]\|Emery-Dreifuss muscular dystrophy [RCV001834587]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001058405]\|not provided [RCV000489349]	uncertain significance	X	154379717	154379717	Human	2	name
13211429	CV426732	deletion	NM_000117.3(EMD):c.621del (p.Pro208fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV000697863]\|not provided [RCV000497431]	pathogenic	X	154381052	154381052	Human	1	name
13214116	CV430733	single nucleotide variant	NM_000117.3(EMD):c.229C>T (p.Pro77Ser)	X-linked Emery-Dreifuss muscular dystrophy [RCV001349031]\|not specified [RCV000500737]	uncertain significance	X	154379983	154379983	Human	1	name
8605118	CV51442	single nucleotide variant	NM_000117.3(EMD):c.272A>G (p.Asn91Ser)	Cardiomyopathy [RCV000770588]\|Cardiovascular phenotype [RCV002426545]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001085397]\|not provided [RCV000756071]\|not specified [RCV000035105]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380240	154380240	Human	4	name
13606386	CV534655	single nucleotide variant	NM_000117.3(EMD):c.188A>G (p.Asp63Gly)	Emery-Dreifuss muscular dystrophy [RCV001835028]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000638221]	uncertain significance	X	154379942	154379942	Human	1	name
13816717	CV574371	deletion	NM_000117.3(EMD):c.607del (p.Arg203fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV000706552]	pathogenic	X	154381037	154381037	Human	1	name
14393309	CV609159	duplication	NM_000117.3(EMD):c.101dup (p.Tyr34Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV000755015]	pathogenic	X	154379707	154379708	Human	1	name
14393595	CV610205	single nucleotide variant	NM_000117.3(EMD):c.128C>G (p.Thr43Ser)	not provided [RCV000756072]	uncertain significance	X	154379735	154379735	Human		name
14689163	CV615180	single nucleotide variant	NM_000117.3(EMD):c.167C>T (p.Ala56Val)	Cardiomyopathy [RCV000770587]	uncertain significance	X	154379774	154379774	Human	2	name
26904899	CV849827	single nucleotide variant	NM_000117.3(EMD):c.136C>T (p.Arg46Trp)	X-linked Emery-Dreifuss muscular dystrophy [RCV001071300]	uncertain significance	X	154379743	154379743	Human	1	name
26917554	CV849828	single nucleotide variant	NM_000117.3(EMD):c.271A>G (p.Asn91Asp)	Emery-Dreifuss muscular dystrophy [RCV001827254]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001042030]	uncertain significance	X	154380239	154380239	Human	1	name
38489117	CV929628	single nucleotide variant	NM_000117.3(EMD):c.192G>C (p.Leu64Phe)	X-linked Emery-Dreifuss muscular dystrophy [RCV001221567]	uncertain significance	X	154379946	154379946	Human	1	name
38461826	CV939502	single nucleotide variant	NM_000117.3(EMD):c.118G>C (p.Glu40Gln)	X-linked Emery-Dreifuss muscular dystrophy [RCV001212098]	uncertain significance	X	154379725	154379725	Human	1	name
38477980	CV939503	single nucleotide variant	NM_000117.3(EMD):c.180C>G (p.Ser60Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV001205342]	uncertain significance	X	154379787	154379787	Human	1	name
38465581	CV939504	deletion	NM_000117.3(EMD):c.619del (p.Arg207fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001212666]	pathogenic	X	154381050	154381050	Human	1	name
126741106	CV1014836	single nucleotide variant	NM_000117.3(EMD):c.343A>T (p.Arg115Trp)	X-linked Emery-Dreifuss muscular dystrophy [RCV001314471]	uncertain significance	X	154380311	154380311	Human	1	name
126767449	CV1014837	single nucleotide variant	NM_000117.3(EMD):c.525C>G (p.Ser175Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV001320854]	uncertain significance	X	154380957	154380957	Human	1	name
126753280	CV1014838	single nucleotide variant	NM_000117.3(EMD):c.593C>T (p.Ser198Phe)	X-linked Emery-Dreifuss muscular dystrophy [RCV001316452]	uncertain significance	X	154381025	154381025	Human	1	name
126759038	CV1035428	single nucleotide variant	NM_000117.3(EMD):c.542A>G (p.Tyr181Cys)	X-linked Emery-Dreifuss muscular dystrophy [RCV001340013]	uncertain significance	X	154380974	154380974	Human	1	name
126764107	CV1035429	single nucleotide variant	NM_000117.3(EMD):c.547C>T (p.Pro183Ser)	Cardiovascular phenotype [RCV004995692]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001341532]	likely benign\|uncertain significance	X	154380979	154380979	Human	2	name
127244130	CV1065240	single nucleotide variant	NM_000117.3(EMD):c.483C>G (p.Tyr161Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV001384139]	pathogenic	X	154380915	154380915	Human	1	name
150404283	CV1189378	single nucleotide variant	NM_000117.3(EMD):c.433G>A (p.Glu145Lys)	X-linked Emery-Dreifuss muscular dystrophy [RCV001563915]\|not provided [RCV004797950]	uncertain significance	X	154380786	154380786	Human	1	name
150404281	CV1189379	single nucleotide variant	NM_000117.3(EMD):c.632G>A (p.Arg211His)	X-linked Emery-Dreifuss muscular dystrophy [RCV001563914]	uncertain significance	X	154381064	154381064	Human	1	name
150404287	CV1189380	single nucleotide variant	NM_000117.3(EMD):c.715C>T (p.Leu239Phe)	Cardiovascular phenotype [RCV002368583]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001563917]	uncertain significance	X	154381147	154381147	Human	2	name
150551476	CV1297386	single nucleotide variant	NM_000117.3(EMD):c.619C>T (p.Arg207Trp)	X-linked Emery-Dreifuss muscular dystrophy [RCV001861093]\|not provided [RCV001767068]	uncertain significance	X	154381051	154381051	Human	1	name
150555971	CV1305480	single nucleotide variant	NM_000117.3(EMD):c.620G>A (p.Arg207Gln)	X-linked Emery-Dreifuss muscular dystrophy [RCV002506800]\|not provided [RCV001773413]	uncertain significance	X	154381052	154381052	Human	1	name
151759331	CV1340668	single nucleotide variant	NM_000117.3(EMD):c.557C>T (p.Ser186Phe)	X-linked Emery-Dreifuss muscular dystrophy [RCV001913796]	uncertain significance	X	154380989	154380989	Human	1	name
151751236	CV1359230	single nucleotide variant	NM_000117.3(EMD):c.618C>G (p.Ile206Met)	X-linked Emery-Dreifuss muscular dystrophy [RCV001969207]	uncertain significance	X	154381050	154381050	Human	1	name
151815275	CV1360778	single nucleotide variant	NM_000117.3(EMD):c.311C>A (p.Thr104Asn)	X-linked Emery-Dreifuss muscular dystrophy [RCV001878674]	likely benign\|uncertain significance	X	154380279	154380279	Human	1	name
151744172	CV1368047	single nucleotide variant	NM_000117.3(EMD):c.677G>C (p.Trp226Ser)	Cardiovascular phenotype [RCV002361162]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001871327]	likely benign\|uncertain significance	X	154381109	154381109	Human	2	name
151802244	CV1378892	single nucleotide variant	NM_000117.3(EMD):c.437A>G (p.Glu146Gly)	X-linked Emery-Dreifuss muscular dystrophy [RCV001877475]	uncertain significance	X	154380790	154380790	Human	1	name
151874737	CV1380599	single nucleotide variant	NM_000117.3(EMD):c.641G>C (p.Gly214Ala)	X-linked Emery-Dreifuss muscular dystrophy [RCV001998794]	uncertain significance	X	154381073	154381073	Human	1	name
151749572	CV1380938	single nucleotide variant	NM_000117.3(EMD):c.631C>T (p.Arg211Cys)	X-linked Emery-Dreifuss muscular dystrophy [RCV002023234]	uncertain significance	X	154381063	154381063	Human	1	name
151823368	CV1385485	single nucleotide variant	NM_000117.3(EMD):c.623C>G (p.Pro208Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV001975961]	uncertain significance	X	154381055	154381055	Human	1	name
151728750	CV1388697	single nucleotide variant	NM_000117.3(EMD):c.578C>T (p.Ser193Phe)	X-linked Emery-Dreifuss muscular dystrophy [RCV001966893]	uncertain significance	X	154381010	154381010	Human	1	name
151711579	CV1395136	single nucleotide variant	NM_000117.3(EMD):c.411C>G (p.Asp137Glu)	X-linked Emery-Dreifuss muscular dystrophy [RCV001964410]	uncertain significance	X	154380764	154380764	Human	1	name
151857830	CV1402093	single nucleotide variant	NM_000117.3(EMD):c.406G>A (p.Asp136Asn)	X-linked Emery-Dreifuss muscular dystrophy [RCV002017398]	uncertain significance	X	154380759	154380759	Human	1	name
151788957	CV1403423	single nucleotide variant	NM_000117.3(EMD):c.497A>G (p.His166Arg)	Cardiovascular phenotype [RCV003167234]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001916625]	uncertain significance	X	154380929	154380929	Human	2	name
151845337	CV1415013	single nucleotide variant	NM_000117.3(EMD):c.317G>A (p.Gly106Glu)	Cardiovascular phenotype [RCV002324289]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001903353]	uncertain significance	X	154380285	154380285	Human	2	name
151820126	CV1416108	single nucleotide variant	NM_000117.3(EMD):c.533A>G (p.Asp178Gly)	X-linked Emery-Dreifuss muscular dystrophy [RCV001919484]	uncertain significance	X	154380965	154380965	Human	1	name
151729823	CV1440992	single nucleotide variant	NM_000117.3(EMD):c.662G>A (p.Arg221His)	X-linked Emery-Dreifuss muscular dystrophy [RCV001945923]	uncertain significance	X	154381094	154381094	Human	1	name
151786014	CV1446158	single nucleotide variant	NM_000117.3(EMD):c.631C>G (p.Arg211Gly)	X-linked Emery-Dreifuss muscular dystrophy [RCV002010192]	uncertain significance	X	154381063	154381063	Human	1	name
151774249	CV1461914	single nucleotide variant	NM_000117.3(EMD):c.487A>G (p.Ser163Gly)	X-linked Emery-Dreifuss muscular dystrophy [RCV001950458]	uncertain significance	X	154380919	154380919	Human	1	name
151841165	CV1462781	single nucleotide variant	NM_000117.3(EMD):c.422C>T (p.Ser141Phe)	Cardiovascular phenotype [RCV002331592]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492720]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002015350]	likely benign\|uncertain significance	X	154380775	154380775	Human	2	name
151778012	CV1463241	single nucleotide variant	NM_000117.3(EMD):c.709A>G (p.Ile237Val)	X-linked Emery-Dreifuss muscular dystrophy [RCV001875091]	uncertain significance	X	154381141	154381141	Human	1	name
151848204	CV1484144	single nucleotide variant	NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)	Cardiovascular phenotype [RCV003303357]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492697]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001903735]	uncertain significance	X	154380932	154380932	Human	2	name
151853847	CV1510906	single nucleotide variant	NM_000117.3(EMD):c.670C>T (p.Pro224Ser)	X-linked Emery-Dreifuss muscular dystrophy [RCV001979284]	uncertain significance	X	154381102	154381102	Human	1	name
152067881	CV1588938	single nucleotide variant	NM_000117.3(EMD):c.403C>T (p.His135Tyr)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492731]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002209591]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380756	154380756	Human	2	name
152050655	CV1665029	single nucleotide variant	NM_000117.3(EMD):c.469C>T (p.Arg157Trp)	X-linked Emery-Dreifuss muscular dystrophy [RCV002127210]	likely benign	X	154380901	154380901	Human	1	name
153000092	CV1682857	single nucleotide variant	NM_000117.3(EMD):c.748G>A (p.Glu250Lys)	See cases [RCV002252867]	likely benign	X	154381180	154381180	Human		name
9687756	CV176796	single nucleotide variant	NM_000117.3(EMD):c.598T>C (p.Trp200Arg)	Cardiovascular phenotype [RCV002354342]\|Emery-Dreifuss muscular dystrophy [RCV001831937]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000638213]\|not provided [RCV001560049]\|not specified [RCV000150648]	conflicting interpretations of pathogenicity\|uncertain significance	X	154381030	154381030	Human	2	name
155717456	CV1780606	single nucleotide variant	NM_000117.3(EMD):c.550A>C (p.Thr184Pro)	not provided [RCV002306211]	uncertain significance	X	154380982	154380982	Human		name
155711263	CV1795194	single nucleotide variant	NM_000117.3(EMD):c.325G>C (p.Glu109Gln)	Cardiovascular phenotype [RCV002324956]	uncertain significance	X	154380293	154380293	Human		name
155669290	CV1856279	single nucleotide variant	NM_000117.3(EMD):c.302C>G (p.Thr101Ser)	Cardiovascular phenotype [RCV002435981]\|X-linked Emery-Dreifuss muscular dystrophy [RCV005058855]	uncertain significance	X	154380270	154380270	Human	2	name
156383586	CV1878461	single nucleotide variant	NM_000117.3(EMD):c.397C>T (p.Gln133Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV003050681]	pathogenic	X	154380365	154380365	Human	1	name
156083251	CV1893768	single nucleotide variant	NM_000117.3(EMD):c.534C>A (p.Asp178Glu)	Cardiovascular phenotype [RCV004071887]\|X-linked Emery-Dreifuss muscular dystrophy [RCV003079942]	likely benign\|uncertain significance	X	154380966	154380966	Human	2	name
10052711	CV195204	single nucleotide variant	NM_000117.3(EMD):c.454C>T (p.Arg152Cys)	Cardiovascular phenotype [RCV005328223]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003491930]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000616618]\|not provided [RCV000179255]\|not specified [RCV002298506]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380886	154380886	Human	2	name
10055767	CV198546	single nucleotide variant	NM_000117.3(EMD):c.466G>A (p.Gly156Ser)	Cardiovascular phenotype [RCV002336466]\|EMD-related disorder [RCV004755792]\|Emery-Dreifuss muscular dystrophy [RCV001833106]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000467850]\|not provided [RCV001721139]\|not specified [RCV000183440]	benign\|likely benign	X	154380898	154380898	Human	2	name , trait , alternate_id
10055770	CV198548	single nucleotide variant	NM_000117.3(EMD):c.559T>C (p.Ser187Pro)	not provided [RCV000183443]	uncertain significance	X	154380991	154380991	Human		name
10055771	CV198549	single nucleotide variant	NM_000117.3(EMD):c.608G>A (p.Arg203His)	Cardiovascular phenotype [RCV004020214]\|Emery-Dreifuss muscular dystrophy [RCV001271618]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000551176]\|not provided [RCV000183444]	uncertain significance	X	154381040	154381040	Human	2	name
10055772	CV198550	single nucleotide variant	NM_000117.3(EMD):c.610C>T (p.Arg204Cys)	Cardiovascular phenotype [RCV004992067]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003491931]\|Emery-Dreifuss muscular dystrophy [RCV001271619]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000638225]\|not provided [RCV000183445]	pathogenic\|likely pathogenic\|uncertain significance	X	154381042	154381042	Human	2	name
10055773	CV198551	single nucleotide variant	NM_000117.3(EMD):c.671C>T (p.Pro224Leu)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003491932]\|Emery-Dreifuss muscular dystrophy [RCV001271620]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000638226]\|not provided [RCV000183446]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154381103	154381103	Human	2	name
155993717	CV1990644	single nucleotide variant	NM_000117.3(EMD):c.706G>A (p.Val236Met)	X-linked Emery-Dreifuss muscular dystrophy [RCV002618135]	uncertain significance	X	154381138	154381138	Human	1	name
155902494	CV2010268	single nucleotide variant	NM_000117.3(EMD):c.656A>G (p.Gln219Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV002726269]	uncertain significance	X	154381088	154381088	Human	1	name
156019061	CV2044344	single nucleotide variant	NM_000117.3(EMD):c.671C>G (p.Pro224Arg)	Cardiovascular phenotype [RCV003167769]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002795496]	uncertain significance	X	154381103	154381103	Human	2	name
156318505	CV2071205	single nucleotide variant	NM_000117.3(EMD):c.587C>G (p.Ser196Cys)	X-linked Emery-Dreifuss muscular dystrophy [RCV002834547]	uncertain significance	X	154381019	154381019	Human	1	name
155995588	CV2095735	single nucleotide variant	NM_000117.3(EMD):c.448A>G (p.Arg150Gly)	X-linked Emery-Dreifuss muscular dystrophy [RCV002908367]	uncertain significance	X	154380801	154380801	Human	1	name
156296286	CV2119253	single nucleotide variant	NM_000117.3(EMD):c.581C>G (p.Ser194Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV002961933]	pathogenic	X	154381013	154381013	Human	1	name
155981139	CV2140444	single nucleotide variant	NM_000117.3(EMD):c.718T>C (p.Phe240Leu)	X-linked Emery-Dreifuss muscular dystrophy [RCV002996105]\|not provided [RCV004779395]	likely benign\|uncertain significance	X	154381150	154381150	Human	1	name
155941881	CV2143003	single nucleotide variant	NM_000117.3(EMD):c.321G>T (p.Glu107Asp)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492791]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002994107]	uncertain significance	X	154380289	154380289	Human	2	name
156073752	CV2172787	single nucleotide variant	NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV003053797]	pathogenic	X	154380978	154380978	Human	1	name
156367911	CV2177839	single nucleotide variant	NM_000117.3(EMD):c.399G>C (p.Gln133His)	X-linked Emery-Dreifuss muscular dystrophy [RCV003049473]	uncertain significance	X	154380367	154380367	Human	1	name
11039950	CV224585	single nucleotide variant	NM_000117.3(EMD):c.406G>C (p.Asp136His)	Primary familial hypertrophic cardiomyopathy [RCV000208067]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001217687]	uncertain significance	X	154380759	154380759	Human	2	name
11091726	CV231407	single nucleotide variant	NM_000117.3(EMD):c.711C>G (p.Ile237Met)	not specified [RCV000217652]	uncertain significance	X	154381143	154381143	Human		name
243051981	CV2409873	single nucleotide variant	NM_000117.3(EMD):c.553T>C (p.Ser185Pro)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492838]\|X-linked Emery-Dreifuss muscular dystrophy [RCV003147047]	uncertain significance	X	154380985	154380985	Human	2	name
243058607	CV2409874	single nucleotide variant	NM_000117.3(EMD):c.455G>A (p.Arg152His)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492839]	uncertain significance	X	154380887	154380887	Human	1	name
243058609	CV2409875	single nucleotide variant	NM_000117.3(EMD):c.524G>A (p.Ser175Asn)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492840]\|X-linked Emery-Dreifuss muscular dystrophy [RCV003523146]	uncertain significance	X	154380956	154380956	Human	2	name
11346480	CV243778	single nucleotide variant	NM_000117.3(EMD):c.428C>T (p.Ser143Phe)	Cardiomyopathy [RCV000770590]\|Cardiovascular phenotype [RCV002327099]\|Emery-Dreifuss muscular dystrophy [RCV001828104]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001081535]\|not provided [RCV000725641]\|not specified [RCV001729471]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380781	154380781	Human	4	name
11349507	CV243779	single nucleotide variant	NM_000117.3(EMD):c.445G>C (p.Asp149His)	Cardiomyopathy [RCV000853050]\|Cardiovascular phenotype [RCV002327100]\|Emery-Dreifuss muscular dystrophy [RCV001271615]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000230785]\|not provided [RCV001310759]\|not specified [RCV000594536]	benign\|likely benign	X	154380798	154380798	Human	4	name
8562230	CV26217	single nucleotide variant	NM_000117.3(EMD):c.548C>A (p.Pro183His)	X-linked Emery-Dreifuss muscular dystrophy [RCV001224353]	pathogenic	X	154380980	154380980	Human	1	name
8562231	CV26218	single nucleotide variant	NM_000117.3(EMD):c.547C>A (p.Pro183Thr)	X-linked Emery-Dreifuss muscular dystrophy [RCV000011929]	pathogenic	X	154380979	154380979	Human	1	name
11640134	CV266418	single nucleotide variant	NM_000117.3(EMD):c.662G>T (p.Arg221Leu)	Cardiovascular phenotype [RCV002365299]\|Emery-Dreifuss muscular dystrophy [RCV001833317]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001446491]\|not provided [RCV000725045]\|not specified [RCV000331953]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154381094	154381094	Human	2	name
11664225	CV269369	single nucleotide variant	NM_000117.3(EMD):c.502C>T (p.Arg168Cys)	Cardiovascular phenotype [RCV002347999]\|Emery-Dreifuss muscular dystrophy [RCV001833342]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000638223]\|not provided [RCV000403886]	uncertain significance	X	154380934	154380934	Human	2	name
11638469	CV269944	single nucleotide variant	NM_000117.3(EMD):c.548C>T (p.Pro183Leu)	X-linked Emery-Dreifuss muscular dystrophy [RCV002519189]\|not provided [RCV000303060]	conflicting interpretations of pathogenicity\|uncertain significance	X	154380980	154380980	Human	1	name
11640923	CV270689	single nucleotide variant	NM_000117.3(EMD):c.610C>G (p.Arg204Gly)	Cardiovascular phenotype [RCV004619245]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492028]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001088437]\|not provided [RCV000725843]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154381042	154381042	Human	2	name
401777475	CV2728928	single nucleotide variant	NM_000117.3(EMD):c.548C>G (p.Pro183Arg)	Cardiovascular phenotype [RCV003306399]	uncertain significance	X	154380980	154380980	Human		name
11640901	CV273999	single nucleotide variant	NM_000117.3(EMD):c.460A>G (p.Met154Val)	Cardiovascular phenotype [RCV002338859]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002494887]\|not provided [RCV000347322]	likely benign\|uncertain significance	X	154380892	154380892	Human	2	name
11643599	CV274394	single nucleotide variant	NM_000117.3(EMD):c.466G>C (p.Gly156Arg)	Cardiovascular phenotype [RCV003298348]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000695175]\|not provided [RCV000726441]\|not specified [RCV000396796]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380898	154380898	Human	2	name
11648745	CV274496	single nucleotide variant	NM_000117.3(EMD):c.512C>A (p.Ser171Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV002518125]\|not provided [RCV000498046]	pathogenic	X	154380944	154380944	Human	1	name
11638152	CV274933	single nucleotide variant	NM_000117.3(EMD):c.385G>A (p.Ala129Thr)	Cardiovascular phenotype [RCV002356396]\|not provided [RCV000298255]	likely benign\|uncertain significance	X	154380353	154380353	Human		name
401917515	CV2795415	single nucleotide variant	NM_000117.3(EMD):c.441C>A (p.Cys147Ter)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003389291]	likely pathogenic	X	154380794	154380794	Human	1	name
401929905	CV2824368	single nucleotide variant	NM_000117.3(EMD):c.616A>G (p.Ile206Val)	not provided [RCV003440045]	uncertain significance	X	154381048	154381048	Human		name
401947110	CV2832509	single nucleotide variant	NM_000117.3(EMD):c.605C>T (p.Thr202Ile)	Hypertrophic cardiomyopathy [RCV003447916]	uncertain significance	X	154381037	154381037	Human	2	name
401962577	CV2845223	single nucleotide variant	NM_000117.3(EMD):c.682C>T (p.Gln228Ter)	not provided [RCV003482684]	likely pathogenic	X	154381114	154381114	Human		name
405073104	CV2854968	single nucleotide variant	NM_000117.3(EMD):c.334G>A (p.Gly112Ser)	X-linked Emery-Dreifuss muscular dystrophy [RCV003523888]	uncertain significance	X	154380302	154380302	Human	1	name
405073604	CV2855773	single nucleotide variant	NM_000117.3(EMD):c.551C>T (p.Thr184Ile)	X-linked Emery-Dreifuss muscular dystrophy [RCV003524002]	uncertain significance	X	154380983	154380983	Human	1	name
405066826	CV2864931	single nucleotide variant	NM_000117.3(EMD):c.490A>G (p.Ile164Val)	X-linked Emery-Dreifuss muscular dystrophy [RCV003523367]	uncertain significance	X	154380922	154380922	Human	1	name
405068184	CV2900405	single nucleotide variant	NM_000117.3(EMD):c.503G>T (p.Arg168Leu)	X-linked Emery-Dreifuss muscular dystrophy [RCV003523630]	uncertain significance	X	154380935	154380935	Human	1	name
405068128	CV2903371	single nucleotide variant	NM_000117.3(EMD):c.356A>G (p.Gln119Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV003523626]	uncertain significance	X	154380324	154380324	Human	1	name
404988688	CV2928218	single nucleotide variant	NM_000117.3(EMD):c.683A>G (p.Gln228Arg)	X-linked Emery-Dreifuss muscular dystrophy [RCV003524816]	uncertain significance	X	154381115	154381115	Human	1	name
405178693	CV2945603	single nucleotide variant	NM_000117.3(EMD):c.457C>T (p.Pro153Ser)	X-linked Emery-Dreifuss muscular dystrophy [RCV003639396]	uncertain significance	X	154380889	154380889	Human	1	name
405181773	CV2976162	single nucleotide variant	NM_000117.3(EMD):c.377A>G (p.Asp126Gly)	X-linked Emery-Dreifuss muscular dystrophy [RCV003639737]	uncertain significance	X	154380345	154380345	Human	1	name
405183001	CV2982713	single nucleotide variant	NM_000117.3(EMD):c.762C>G (p.Phe254Leu)	X-linked Emery-Dreifuss muscular dystrophy [RCV003639894]	uncertain significance	X	154381194	154381194	Human	1	name
405183372	CV2984071	single nucleotide variant	NM_000117.3(EMD):c.599G>T (p.Trp200Leu)	X-linked Emery-Dreifuss muscular dystrophy [RCV003639782]	uncertain significance	X	154381031	154381031	Human	1	name
405150420	CV3162865	single nucleotide variant	NM_000117.3(EMD):c.307A>G (p.Arg103Gly)	X-linked Emery-Dreifuss muscular dystrophy [RCV003856308]	uncertain significance	X	154380275	154380275	Human	1	name
402468959	CV3174639	single nucleotide variant	NM_000117.3(EMD):c.667G>A (p.Val223Ile)	X-linked Emery-Dreifuss muscular dystrophy [RCV003873749]	uncertain significance	X	154381099	154381099	Human	1	name
405698105	CV3385184	single nucleotide variant	NM_000117.3(EMD):c.410A>G (p.Asp137Gly)	Cardiovascular phenotype [RCV004520491]	uncertain significance	X	154380763	154380763	Human		name
405698112	CV3385185	single nucleotide variant	NM_000117.3(EMD):c.415C>T (p.Leu139Phe)	Cardiovascular phenotype [RCV004520492]\|X-linked Emery-Dreifuss muscular dystrophy [RCV005059485]	likely benign\|uncertain significance	X	154380768	154380768	Human	2	name
405698115	CV3385186	single nucleotide variant	NM_000117.3(EMD):c.661C>T (p.Arg221Cys)	Cardiovascular phenotype [RCV004520493]	uncertain significance	X	154381093	154381093	Human		name
405855326	CV3394088	single nucleotide variant	NM_000117.3(EMD):c.512C>G (p.Ser171Ter)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV004547315]	pathogenic	X	154380944	154380944	Human	1	name
596920804	CV3534194	single nucleotide variant	NM_000117.3(EMD):c.382G>A (p.Asp128Asn)	not specified [RCV004783413]	uncertain significance	X	154380350	154380350	Human		name
12741079	CV360662	single nucleotide variant	NM_000117.3(EMD):c.436G>A (p.Glu146Lys)	Cardiovascular phenotype [RCV002328901]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001865293]\|not specified [RCV000414020]	uncertain significance	X	154380789	154380789	Human	2	name
597887160	CV3741901	single nucleotide variant	NM_000117.3(EMD):c.442A>G (p.Lys148Glu)	X-linked Emery-Dreifuss muscular dystrophy [RCV005070621]	uncertain significance	X	154380795	154380795	Human	1	name
597845722	CV3761605	single nucleotide variant	NM_000117.3(EMD):c.449G>A (p.Arg150Lys)	X-linked Emery-Dreifuss muscular dystrophy [RCV005087205]	uncertain significance	X	154380802	154380802	Human	1	name
597933128	CV3780873	single nucleotide variant	NM_000117.3(EMD):c.752G>A (p.Gly251Asp)	X-linked Emery-Dreifuss muscular dystrophy [RCV005116985]	uncertain significance	X	154381184	154381184	Human	1	name
597906256	CV3785108	single nucleotide variant	NM_000117.3(EMD):c.527C>T (p.Ser176Phe)	X-linked Emery-Dreifuss muscular dystrophy [RCV005127951]	uncertain significance	X	154380959	154380959	Human	1	name
597931272	CV3789449	single nucleotide variant	NM_000117.3(EMD):c.563C>A (p.Thr188Asn)	X-linked Emery-Dreifuss muscular dystrophy [RCV005131730]	uncertain significance	X	154380995	154380995	Human	1	name
12850084	CV379235	single nucleotide variant	NM_000117.3(EMD):c.419T>A (p.Leu140Ter)	not provided [RCV000441327]	pathogenic	X	154380772	154380772	Human		name
597893708	CV3809981	single nucleotide variant	NM_000117.3(EMD):c.596C>T (p.Ser199Leu)	X-linked Emery-Dreifuss muscular dystrophy [RCV005151702]	uncertain significance	X	154381028	154381028	Human	1	name
597933976	CV3810833	single nucleotide variant	NM_000117.3(EMD):c.340T>C (p.Ser114Pro)	X-linked Emery-Dreifuss muscular dystrophy [RCV005157542]	uncertain significance	X	154380308	154380308	Human	1	name
597944206	CV3812504	single nucleotide variant	NM_000117.3(EMD):c.409G>A (p.Asp137Asn)	X-linked Emery-Dreifuss muscular dystrophy [RCV005159714]	uncertain significance	X	154380762	154380762	Human	1	name
597914585	CV3817551	single nucleotide variant	NM_000117.3(EMD):c.425C>G (p.Ser142Cys)	X-linked Emery-Dreifuss muscular dystrophy [RCV005154753]	uncertain significance	X	154380778	154380778	Human	1	name
597900570	CV3835395	single nucleotide variant	NM_000117.3(EMD):c.325G>A (p.Glu109Lys)	X-linked Emery-Dreifuss muscular dystrophy [RCV005181118]	uncertain significance	X	154380293	154380293	Human	1	name
597906481	CV3842844	single nucleotide variant	NM_000117.3(EMD):c.666G>C (p.Gln222His)	X-linked Emery-Dreifuss muscular dystrophy [RCV005182150]	uncertain significance	X	154381098	154381098	Human	1	name
597953021	CV3843885	single nucleotide variant	NM_000117.3(EMD):c.736A>T (p.Met246Leu)	X-linked Emery-Dreifuss muscular dystrophy [RCV005190747]	uncertain significance	X	154381168	154381168	Human	1	name
616933107	CV4012719	single nucleotide variant	NM_000117.3(EMD):c.359C>A (p.Ser120Ter)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV005410179]	likely pathogenic	X	154380327	154380327	Human	1	name
12901849	CV411198	single nucleotide variant	NM_000117.3(EMD):c.355C>A (p.Gln119Lys)	Cardiomyopathy [RCV001798859]\|Cardiovascular phenotype [RCV004992262]\|Emery-Dreifuss muscular dystrophy [RCV001834570]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000687906]\|not provided [RCV000727407]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380323	154380323	Human	4	name
13212387	CV426731	single nucleotide variant	NM_000117.3(EMD):c.600G>A (p.Trp200Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV000793350]\|not provided [RCV000498750]	pathogenic\|likely pathogenic	X	154381032	154381032	Human	1	name
13446242	CV438475	single nucleotide variant	NM_000117.3(EMD):c.400G>A (p.Val134Met)	Cardiovascular phenotype [RCV004992295]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492086]\|Emery-Dreifuss muscular dystrophy [RCV001271614]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000701008]\|not provided [RCV000513465]	likely benign\|uncertain significance	X	154380753	154380753	Human	2	name
8569388	CV44694	single nucleotide variant	NM_000117.3(EMD):c.470G>A (p.Arg157Gln)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492301]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000686102]\|not specified [RCV003103716]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154380902	154380902	Human	2	name
13468224	CV471411	single nucleotide variant	NM_000117.3(EMD):c.430G>T (p.Glu144Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV000557820]\|not provided [RCV000723516]	pathogenic	X	154380783	154380783	Human	1	name
13466539	CV471836	single nucleotide variant	NM_000117.3(EMD):c.611G>A (p.Arg204His)	Cardiovascular phenotype [RCV000618581]\|Emery-Dreifuss muscular dystrophy [RCV001829576]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000551537]\|not provided [RCV000762691]	likely benign\|uncertain significance	X	154381043	154381043	Human	2	name
13499787	CV472105	single nucleotide variant	NM_000117.3(EMD):c.449G>C (p.Arg150Thr)	X-linked Emery-Dreifuss muscular dystrophy [RCV000534154]	uncertain significance	X	154380802	154380802	Human	1	name
13522462	CV488515	single nucleotide variant	NM_000117.3(EMD):c.562A>C (p.Thr188Pro)	Cardiomyopathy [RCV000770592]\|not provided [RCV000591770]	uncertain significance	X	154380994	154380994	Human	2	name
13517635	CV490413	single nucleotide variant	NM_000117.3(EMD):c.484C>T (p.Gln162Ter)	X-linked Emery-Dreifuss muscular dystrophy [RCV000690680]\|not provided [RCV000596678]	pathogenic	X	154380916	154380916	Human	1	name
13535738	CV508605	single nucleotide variant	NM_000117.3(EMD):c.396C>A (p.His132Gln)	Cardiovascular phenotype [RCV003380631]\|not specified [RCV000602554]	likely benign\|uncertain significance	X	154380364	154380364	Human		name
13533445	CV510929	single nucleotide variant	NM_000117.3(EMD):c.359C>T (p.Ser120Leu)	Cardiovascular phenotype [RCV000617560]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001341792]	uncertain significance	X	154380327	154380327	Human	2	name
8605121	CV51445	single nucleotide variant	NM_000117.3(EMD):c.494C>T (p.Thr165Met)	Cardiovascular phenotype [RCV004018735]\|Emery-Dreifuss muscular dystrophy [RCV001826539]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001852703]\|not specified [RCV000035108]	uncertain significance	X	154380926	154380926	Human	2	name
8605123	CV51447	single nucleotide variant	NM_000117.3(EMD):c.571A>G (p.Met191Val)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492339]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001852704]\|not provided [RCV001703449]\|not specified [RCV000035110]	likely benign\|uncertain significance	X	154381003	154381003	Human	2	name
8605124	CV51448	single nucleotide variant	NM_000117.3(EMD):c.646G>A (p.Gly216Arg)	Cardiovascular phenotype [RCV002354186]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001089148]\|not provided [RCV000732781]\|not specified [RCV000035111]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154381078	154381078	Human	2	name
13606383	CV534658	single nucleotide variant	NM_000117.3(EMD):c.353G>A (p.Arg118His)	Emery-Dreifuss muscular dystrophy [RCV001835027]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000638216]	likely benign\|uncertain significance	X	154380321	154380321	Human	1	name
13606384	CV534763	single nucleotide variant	NM_000117.3(EMD):c.704T>C (p.Phe235Ser)	X-linked Emery-Dreifuss muscular dystrophy [RCV000638217]\|not provided [RCV000734568]	uncertain significance	X	154381136	154381136	Human	1	name
13606387	CV535113	single nucleotide variant	NM_000117.3(EMD):c.746A>G (p.Glu249Gly)	Cardiovascular phenotype [RCV004619359]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV005392204]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000638222]\|not provided [RCV000827235]	benign\|likely benign\|uncertain significance	X	154381178	154381178	Human	2	name
14723470	CV649878	single nucleotide variant	NM_000117.3(EMD):c.412G>A (p.Asp138Asn)	X-linked Emery-Dreifuss muscular dystrophy [RCV000814360]	uncertain significance	X	154380765	154380765	Human	1	name
14736980	CV649880	single nucleotide variant	NM_000117.3(EMD):c.503G>A (p.Arg168His)	Emery-Dreifuss muscular dystrophy [RCV001825655]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000820254]	uncertain significance	X	154380935	154380935	Human	1	name
14729696	CV649881	single nucleotide variant	NM_000117.3(EMD):c.620G>C (p.Arg207Pro)	Emery-Dreifuss muscular dystrophy [RCV001830790]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000817065]	benign\|uncertain significance	X	154381052	154381052	Human	1	name
15014958	CV679482	single nucleotide variant	NM_000117.3(EMD):c.352C>T (p.Arg118Cys)	Cardiomyopathy [RCV000852583]	uncertain significance	X	154380320	154380320	Human	2	name
26921431	CV849829	single nucleotide variant	NM_000117.3(EMD):c.361G>A (p.Val121Met)	X-linked Emery-Dreifuss muscular dystrophy [RCV001049930]	uncertain significance	X	154380329	154380329	Human	1	name
26914561	CV849830	single nucleotide variant	NM_000117.3(EMD):c.413A>G (p.Asp138Gly)	X-linked Emery-Dreifuss muscular dystrophy [RCV001037719]	uncertain significance	X	154380766	154380766	Human	1	name
26915286	CV849832	single nucleotide variant	NM_000117.3(EMD):c.712G>A (p.Val238Ile)	Cardiovascular phenotype [RCV005328471]\|Emery-Dreifuss muscular dystrophy [RCV001832392]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001038773]	likely benign\|uncertain significance	X	154381144	154381144	Human	2	name
38481727	CV929629	single nucleotide variant	NM_000117.3(EMD):c.725T>G (p.Ile242Ser)	X-linked Emery-Dreifuss muscular dystrophy [RCV001218138]	uncertain significance	X	154381157	154381157	Human	1	name
38499912	CV959205	single nucleotide variant	NM_000117.3(EMD):c.425C>T (p.Ser142Phe)	Cardiovascular phenotype [RCV002327597]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001245248]	uncertain significance	X	154380778	154380778	Human	2	name
38493764	CV959206	single nucleotide variant	NM_000117.3(EMD):c.575C>T (p.Ser192Phe)	Emery-Dreifuss muscular dystrophy [RCV001834133]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001240878]\|not provided [RCV003438728]	uncertain significance	X	154381007	154381007	Human	1	name
38494005	CV959207	single nucleotide variant	NM_000117.3(EMD):c.581C>T (p.Ser194Leu)	Emery-Dreifuss muscular dystrophy [RCV001828965]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001241050]	benign\|uncertain significance	X	154381013	154381013	Human	1	name
38495341	CV959208	single nucleotide variant	NM_000117.3(EMD):c.587C>T (p.Ser196Phe)	Emery-Dreifuss muscular dystrophy [RCV001828987]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001241881]	uncertain significance	X	154381019	154381019	Human	1	name
40906238	CV980095	single nucleotide variant	NM_000117.3(EMD):c.490A>C (p.Ile164Leu)	Cardiovascular phenotype [RCV002339705]\|Emery-Dreifuss muscular dystrophy [RCV001279590]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001309518]	uncertain significance	X	154380922	154380922	Human	2	name
40906239	CV980096	single nucleotide variant	NM_000117.3(EMD):c.730C>T (p.His244Tyr)	Emery-Dreifuss muscular dystrophy [RCV001279592]	uncertain significance	X	154381162	154381162	Human	1	name
8639366	CV98349	single nucleotide variant	NM_000117.3(EMD):c.355C>T (p.Gln119Ter)	not provided [RCV000078131]	pathogenic	X	154380323	154380323	Human		name
126759865	CV999692	single nucleotide variant	NM_000117.3(EMD):c.350T>G (p.Val117Gly)	Emery-Dreifuss muscular dystrophy [RCV001835426]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001299618]	uncertain significance	X	154380318	154380318	Human	1	name
126759686	CV999693	single nucleotide variant	NM_000117.3(EMD):c.572T>C (p.Met191Thr)	Cardiovascular phenotype [RCV002350560]\|Emery-Dreifuss muscular dystrophy [RCV001835515]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001309088]	likely benign\|uncertain significance	X	154381004	154381004	Human	2	name
126755662	CV999695	single nucleotide variant	NM_000117.3(EMD):c.728A>C (p.Tyr243Ser)	X-linked Emery-Dreifuss muscular dystrophy [RCV001298403]	uncertain significance	X	154381160	154381160	Human	1	name
127244748	CV1056746	microsatellite	NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	Cardiovascular phenotype [RCV002432060]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003469624]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001377300]\|not provided [RCV001560660]	pathogenic\|likely pathogenic\|uncertain significance	X	154379711	154379713	Human		name
8562226	CV26213	duplication	NM_000117.3(EMD):c.139_140dup (p.Leu48fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV000011924]	pathogenic	X	154379744	154379745	Human	1	name
11654629	CV273723	deletion	NM_000117.3(EMD):c.251_255del (p.Leu84fs)	EMD-related disorder [RCV003401269]\|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003492030]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001216679]\|not provided [RCV000498396]	pathogenic\|likely pathogenic	X	154380002	154380006	Human	2	name , trait , alternate_id
402467404	CV3174085	microsatellite	NM_000117.3(EMD):c.168CTC[1] (p.Ser58del)	X-linked Emery-Dreifuss muscular dystrophy [RCV003873368]	uncertain significance	X	154379774	154379776	Human		name
408394166	CV3521756	microsatellite	NM_000117.3(EMD):c.274GAC[1] (p.Asp93del)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV004764555]	uncertain significance	X	154380242	154380244	Human		name
597946877	CV3790555	microsatellite	NM_000117.3(EMD):c.236_239del (p.Lys79fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV005134963]	pathogenic	X	154379986	154379989	Human		name
13212543	CV426730	deletion	NM_000117.3(EMD):c.121_155del (p.Tyr41fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV005091070]\|not provided [RCV000498959]	pathogenic	X	154379726	154379760	Human	1	name
13606382	CV534740	microsatellite	NM_000117.3(EMD):c.217_218dup (p.Met73fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV000638215]	pathogenic	X	154379968	154379969	Human		name
13809417	CV577946	deletion	NM_000117.3(EMD):c.116_143del (p.Phe39fs)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV003387916]\|X-linked Emery-Dreifuss muscular dystrophy [RCV005092061]\|not provided [RCV000711610]	pathogenic	X	154379721	154379748	Human	2	name
127261969	CV1065242	duplication	NM_000117.3(EMD):c.643_653dup (p.Gln219fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001387613]	pathogenic	X	154381069	154381070	Human	1	name
127269352	CV1065243	microsatellite	NM_000117.3(EMD):c.650_654del (p.Leu217fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001389493]	pathogenic	X	154381073	154381077	Human		name
151816301	CV1389363	microsatellite	NM_000117.3(EMD):c.718TTC[1] (p.Phe241del)	X-linked Emery-Dreifuss muscular dystrophy [RCV002012940]	uncertain significance	X	154381148	154381150	Human		name
151754854	CV1425851	duplication	NM_000117.3(EMD):c.561_567dup (p.Phe190fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV002007226]	pathogenic	X	154380992	154380993	Human	1	name
151867173	CV1469005	deletion	NM_000117.3(EMD):c.680_684del (p.Gly227fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV002018491]	uncertain significance	X	154381111	154381115	Human	1	name
9690245	CV178263	microsatellite	NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	Neuromuscular disease [RCV000155918]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001850141]\|not provided [RCV004815248]	pathogenic\|likely pathogenic	X	154381072	154381073	Human		name
10055778	CV198542	deletion	NM_000117.3(EMD):c.115_117del (p.Phe39del)	X-linked Emery-Dreifuss muscular dystrophy [RCV002517814]\|not provided [RCV000727962]	uncertain significance	X	154379720	154379722	Human	1	name
156368614	CV2190518	duplication	NM_000117.3(EMD):c.651_655dup (p.Gln219fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV003066123]	pathogenic	X	154381082	154381083	Human	1	name
8562223	CV26210	deletion	NM_000117.3(EMD):c.506_507del (p.Pro169fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV000011921]	pathogenic	X	154380938	154380939	Human	1	name
404988980	CV2922211	deletion	NM_000117.3(EMD):c.676_677del (p.Trp226fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV003524846]	pathogenic	X	154381108	154381109	Human	1	name
405182920	CV2989148	duplication	NM_000117.3(EMD):c.391_397dup (p.Gln133fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV003639883]	pathogenic	X	154380357	154380358	Human	1	name
597898458	CV3854469	deletion	NM_000117.3(EMD):c.740_743del (p.Gln247fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV005201576]	likely pathogenic	X	154381170	154381173	Human	1	name
13211648	CV426733	duplication	NM_000117.3(EMD):c.640_644dup (p.Gln219fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001388629]\|not provided [RCV000497728]	pathogenic\|likely pathogenic	X	154381071	154381072	Human	1	name
13212227	CV426734	deletion	NM_000117.3(EMD):c.674_678del (p.Leu225fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV000498518]	pathogenic	X	154381106	154381110	Human	1	name
13606388	CV535112	deletion	NM_000117.3(EMD):c.581_582del (p.Ser194fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV000638224]	pathogenic	X	154381013	154381014	Human	1	name
13834784	CV586034	deletion	NM_000117.3(EMD):c.468_471del (p.Arg157fs)	not provided [RCV000730390]	pathogenic	X	154380897	154380900	Human		name
14704242	CV649879	microsatellite	NM_000117.3(EMD):c.421TCT[2] (p.Ser143del)	Cardiovascular phenotype [RCV004017746]\|X-linked Emery-Dreifuss muscular dystrophy [RCV000807698]	uncertain significance	X	154380774	154380776	Human		name
14733321	CV649882	microsatellite	NM_000117.3(EMD):c.717_718del (p.Phe240fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV000818656]	uncertain significance	X	154381147	154381148	Human		name
26916892	CV849831	deletion	NM_000117.3(EMD):c.475_476del (p.Ser159fs)	X-linked Emery-Dreifuss muscular dystrophy [RCV001041051]	pathogenic	X	154380907	154380908	Human	1	name
38498627	CV951685	microsatellite	NM_000117.3(EMD):c.684GCT[2] (p.Leu231del)	X-linked Emery-Dreifuss muscular dystrophy [RCV001227869]	uncertain significance	X	154381116	154381118	Human		name
8639364	CV98347	insertion	NM_000117.3(EMD):c.239_240insT (p.Glu80fs)	not provided [RCV000078129]	pathogenic	X	154379993	154379994	Human		name
126759257	CV999694	microsatellite	NM_000117.3(EMD):c.576CTC[1] (p.Ser199del)	Emery-Dreifuss muscular dystrophy [RCV001835514]\|X-linked Emery-Dreifuss muscular dystrophy [RCV001308963]\|not provided [RCV001751592]	uncertain significance	X	154381006	154381008	Human		name
405173400	CV3057611	deletion	NM_000117.3(EMD):c.550_552del (p.Thr184del)	X-linked Emery-Dreifuss muscular dystrophy [RCV003638601]	uncertain significance	X	154380980	154380982	Human	1	name
405657296	CV3228483	insertion	NM_000117.3(EMD):c.662_663insT (p.Gln222fs)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV004006218]	likely pathogenic	X	154381094	154381095	Human	1	name
13211342	CV426735	insertion	NM_000117.3(EMD):c.703_704insA (p.Phe235fs)	not provided [RCV000497314]	likely pathogenic	X	154381135	154381136	Human		name
26913020	CV849825	indel	NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro)	X-linked Emery-Dreifuss muscular dystrophy [RCV001035062]	uncertain significance	X	154379552	154379553	Human		name
155946169	CV2062222	deletion	NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)	X-linked Emery-Dreifuss muscular dystrophy [RCV002815994]	pathogenic	X	154379563	154379563	Human	1	name
597846126	CV3736419	indel	NM_000117.3(EMD):c.110_111delinsTC (p.Lys37Ile)	X-linked Emery-Dreifuss muscular dystrophy [RCV005059997]	uncertain significance	X	154379717	154379718	Human		name
150460266	CV1205747	microsatellite	NM_000117.3(EMD):c.-161CAACGATTCGGCTGTGACGCGA[1]	EMD-related disorder [RCV003966234]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002579450]\|not provided [RCV001586704]	likely benign	X	154379315	154379336	Human		name , trait , alternate_id
8639365	CV98348	deletion	NM_000117.3(EMD):c.284_298del (p.Tyr95_Tyr99del)	not provided [RCV000178044]	likely pathogenic	X	154380247	154380261	Human		name
405079229	CV2908658	insertion	NM_000117.3(EMD):c.265+7_265+8insTTTACTCTACCAGAGCA	X-linked Emery-Dreifuss muscular dystrophy [RCV003524418]	likely benign	X	154380026	154380027	Human	1	name
597940728	CV3819112	deletion	NM_000117.3(EMD):c.409_414del (p.Asp137_Asp138del)	X-linked Emery-Dreifuss muscular dystrophy [RCV005158923]	uncertain significance	X	154380759	154380764	Human	1	name
596943295	CV3542870	microsatellite	NM_000117.3(EMD):c.359_362del (p.Gln119_Ser120insTer)	not provided [RCV004798454]	likely pathogenic	X	154380323	154380326	Human		name
28886231	CV860812	microsatellite	NM_000117.3(EMD):c.177_178del (p.Tyr59_Ser60delinsTer)	not provided [RCV001091833]	pathogenic	X	154379782	154379783	Human		name
10055777	CV198547	deletion	NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)	Emery-Dreifuss muscular dystrophy [RCV001827989]\|X-linked Emery-Dreifuss muscular dystrophy [RCV002517813]\|not provided [RCV000183450]\|not specified [RCV003330544]	pathogenic\|uncertain significance	X	154380977	154380979	Human	1	name
407429152	CV3413539	deletion	NM_000117.3(EMD):c.428_430del (p.Ser143_Glu144delinsTer)	Emery-Dreifuss muscular dystrophy 1, X-linked [RCV004594948]	pathogenic	X	154380781	154380783	Human	1	name

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