View unique variants - Leiden Muscular Dystrophy pages

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The variants below are all in the EMD database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the EMD full legend here.

108 entries
entries per page

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Segregation

Reference

Template

Technique

Frequency

RE-site


1	c.-139_-118del (Reported 2 times)	-150_-129del	r.(?)	p.(=)	EMD_00001	-	germline (inherited)	-	Manilal	RNA, DNA	RT-PCR, SEQ	-	-
1	BX936346.4:g.15589_35869del	-	r.0	p.(0)	EMD_00007	20 Kb del	germline (inherited)	-	Small	DNA	SEQ	-	-
1	c.(?_-269)_(*325_?)del (Reported 5 times)	-	r.0	p.0?	EMD_00059	-	germline (inherited)	-	Fujimoto	RNA, DNA	RT-PCR, PCR, SEQ	-	-
1	c.(?_-269)_(*325_?)inv	-	r.(=)	p.(=)	EMD_00089	inv incl. FLNA + EMD	germline (inherited)	-	Small	DNA	Southern	19/106	-
1_6	c.0 (Reported 159 times)	-	r.0	p.0	EMD_00000	no paternal X-chromosome	unknown	-	-	DNA	SEQ	-	-
1_6	c.= (Reported 12 times)	-	r.=	p.=	EMD_00000	normal 2nd X-chromosome	germline (inherited)	-	-	DNA	SEQ	-	-
1_6	c.? (Reported 7 times)	-	r.(?)	p.(?)	EMD_00000	unknwon variant 2nd X-chromosome	germline (inherited)	-	-	DNA	SEQ	-	-
1	Z49258.1:29638_o.BX936346.4:15806del	-	r.0?	p.(0?)	EMD_00008	deletion >34 Kb	germline (inherited)	-	Small	DNA	SEQ	-	-
1	c.1A>G (Reported 4 times)	-	r.(?)	p.(0?)	EMD_00058	-	germline (inherited)	-	EMD-Toniolo, 1996	DNA	SEQ	-	-
1	c.2T>C	-	r.(?)	p.(0?)	EMD_00002	-	germline (inherited)	-	Yates	DNA	SEQ	-	-
1	c.2T>G (Reported 2 times)	-	r.(?)	p.(0?)	EMD_00003	-	germline (inherited)	-	Mora	DNA	SEQ	-	-
1	c.3G>A (Reported 3 times)	-	r.3g>a	p.0	EMD_00004	-	germline (inherited)	-	Klauck 1995, Yates, de Koning Gans, Hausmanowa-Petrusewicz, Ellis 1998	RNA, DNA	PTT, RT-PCR, SEQ	-	-
1	c.(3_31del?) (Reported 10 times)	29bp del	r.(?)	p.(fs*)	EMD_00000	-	germline (inherited)	-	Boriani 2003	DNA	SSCA, SEQ	-	-
1	c.3_31del	-	r.(?)	p.(0?)	EMD_00087	-	germline (inherited)	-	Funakoshi 1999	DNA	SEQ	-	-
1	c.7_188-23delins103	7_188-23del429ins103	r.(?)	p.(Asn3*)	EMD_00015	insertion not specified	germline (inherited)	-	Bione, Yates, Yates, Ellis 1998	DNA	SEQ	-	-
1	c.31delG	-	r.(?)	p.(Glu11Serfs*2)	EMD_00061	-	germline (inherited)	-	Kubo, Funakoshi 1999	DNA	SSCA	-	-
1	c.57C>G	-	r.(?)	p.(Tyr19*)	EMD_00060	-	germline (inherited)	-	EMD-Toniolo, 1996	DNA	SEQ	-	-
1	c.82+1delG (Reported 2 times)	-	r.54_82del	p.Tyr19Ilefs*4	EMD_00005	c.82+1delG	germline (inherited)	-	Manilal	DNA, RNA	RT-PCR, SEQ	-	-
1	c.82+1G>T	-	r.spl?	p.(?)	EMD_00062	-	germline (inherited)	-	Nigro	DNA	SEQ	-	-
1	c.82+5G>C	-	r.54_82del	p.fs?	EMD_00006	-	germline (inherited)	-	Hasegawa	RNA, DNA	RT-PCR, SEQ	-	-
1	c.82+6_82+7insCG	-	r.spl?	p.(?)	EMD_00063	-	germline (inherited)	-	Bione	DNA	SEQ	-	-
2	c.83-4_83del	-	r.spl?	p.(fs?)	EMD_00021	-	germline (inherited)	-	Yates	DNA	SEQ	-	-
2	c.83-2A>C	-	r.spl?	p.(fs?)	EMD_00025	-	germline (inherited)	-	Bione	DNA	SEQ	-	-
2	c.96_155del	-	r.(?)	p.(Arg32_Pro51del)	EMD_00020	-	germline (inherited)	-	Talkop	DNA	SEQ	-	-
2	c.99_157del	59nt del g.329_388del	-	p.(Tyr34Valfs*7)	EMD_00088	-	germline (inherited)	-	Wehnert (1999) Hum.Genet. 104:195	DNA	SEQ	-	-
2	c.100delT	-	r.(?)	p.(Tyr34Thrfs*31)	EMD_00009	-	germline (inherited)	-	Nevo 2001	DNA	SEQ	-	-
2	c.102C>G (Reported 2 times)	-	r.102c>g	p.Tyr34*	EMD_00010	-	germline (inherited)	-	Yates, Yates, de Koning Gans	RNA, DNA	SEQ, PTT, RT-PCR	-	-
2	c.106A>T	-	r.(?)	p.(Lys36*)	EMD_00107	-	germline (inherited)	-	Nigro 2010	DNA	SEQ	-	-
2	c.123C>G	-	r.(?)	p.(Tyr41*)	EMD_00064	-	germline (inherited)	-	Bione	DNA	SEQ	-	-
2	c.130C>T (Reported 4 times)	-	r.(?)	p.(Gln44*)	EMD_00011	-	germline (inherited)	-	EMD-Kaplan, 1998	DNA	SEQ	-	-
2	c.138_163del	-	r.138_163del	p.Ser49Leufs*3	EMD_00013	-	germline (inherited)	-	Nevo 1999	DNA, RNA	RT-PCR, SEQ	-	-
2	c.139_140dup	-	r.139_140dup	p.Leu48Glyfs*18	EMD_00024	-	germline (inherited)	-	Bione, Romeo, (OMIM 0004)	DNA, RNA	RT-PCR, SEQ	-	-
2	c.153delC (Reported 5 times)	-	r.(?)	p.(Ser52Alafs*13)	EMD_00014	-	germline (inherited)	-	Manilal	DNA	SEQ	-	-
2	c.161C>T	-	r.(?)	p.(Ser54Phe)	EMD_00065	-	germline (inherited)	-	Ellis, EMD-Muller, 1996	DNA	SEQ	-	-
2	c.165delC	164delC	r.(?)	p.(Ala56Profs*9)	EMD_00095	-	germline (inherited)	-	UMD: Wehnert unpublished	DNA	SEQ	-	-
2	c.174_175del	-	r.(?)	p.(Tyr59*)	EMD_00066	-	germline (inherited)	-	EMD-Kaplan, 1998	DNA	SEQ	-	-
2	c.177T>A (Reported 2 times)	-	r.(?)	p.(Tyr59*)	EMD_00016	-	germline (inherited)	-	Yates	DNA	SEQ	-	-
2	c.178dupA	-	r.(?)	p.(Ser60Lysfs*4)	EMD_00017	-	germline (inherited)	-	Nevo 2001	DNA	SEQ	-	-
2	c.184dupT	-	r.(?)	p.(Ser62Phefs*2)	EMD_00018	-	germline (inherited)	-	Canki-Klain 2000	DNA	SEQ	-	MboII+
2	c.186dupT	-	r.(?)	p.(Asp63*)	EMD_00104	-	germline (inherited)	-	Yates	DNA	SEQ	-	-
2	c.187+1G>A (Reported 2 times)	-	r.spl?	p.(?)	EMD_00019	-	germline (inherited)	-	Yates, Deymeer, Yates	DNA	SEQ	-	-
3	c.215A>T	-	r.(?)	p.(Asp72Val)	EMD_00100	-	germline (inherited)	-	-	DNA	SSCA	-	-
3	c.221_222del	221_222delAT	r.(?)	p.(Tyr74*)	EMD_00068	-	germline (inherited)	-	Bione	DNA	SEQ	-	-
3	c.239_240del	-	r.(?)	p.(Glu80Glyfs*12)	EMD_00022	-	germline (inherited)	-	Wulff	DNA	HD	-	-
3	c.251_255del (Reported 4 times)	-	r.(?)	p.(Leu84Profs*7)	EMD_00023	de novo, germline mosaicism in mother	de novo	-	Manilal, Hoeltzenbein, (OMIM 0010)	DNA	SEQ	-	-
3	c.256C>T	-	r.(?)	p.(Gln86*)	EMD_00069	-	germline (inherited)	-	EMD-Toniolo, 1998	DNA	SEQ	-	-
4	c.266-27_266-10del (Reported 2 times)	-	r.spl?	p.(?)	EMD_00071	-	germline (inherited)	-	Wehnert (2000) Hum.Genet. 105:151	DNA	SEQ	-	-
4	c.266-3A>G	-	r.[266_308del, 265_266ins266-86_266-1;266-3a>g, 26	p.fs?	EMD_00028	-	germline (inherited)	-	Bione, (OMIM 0005)	RNA, DNA	RT-PCR, SEQ	-	-
4	c.266-2A>G (Reported 3 times)	-	r.spl?	p.(fs?)	EMD_00027	-	germline (inherited)	-	Bione, Yates, Waters, Hopkins, Consalez	DNA	SEQ	-	-
4	c.266-1G>C	-	r.spl?	p.(?)	EMD_00070	-	germline (inherited)	-	EMD-Kress, 1998	DNA	SEQ	-	-
4	c.266-?_*325+?del	-	r.(266_1090del?)	p.(?)	EMD_00026	-	germline (inherited)	-	Manilal	DNA	SEQ	-	-
4	c.282C>G	-	r.(?)	p.(Tyr94*)	EMD_00029	-	germline (inherited)	-	Yates	DNA	SEQ	-	-
4	c.284_298del (Reported 2 times)	-	r.(?)	p.(Tyr95_Tyr99del)	EMD_00030	-	germline (inherited)	-	Yates, Ellis 1998, Dreifuss, Emery, Emery	DNA	SEQ	-	-
4	c.301dupA	-	r.(?)	p.(Thr101Asnfs*28)	EMD_00031	-	germline (inherited)	-	Wulff	DNA	HD	-	-
4	c.314_315del (Reported 2 times)	-	r.(?)	p.(Tyr105Trpfs*23)	EMD_00032	-	germline (inherited)	-	Wulff, Wulff 1997	DNA	HD	-	-
4	c.315T>G (Reported 3 times)	-	r.(?)	p.(Tyr105*)	EMD_00034	-	germline (inherited)	-	Manilal, Muntoni	DNA	SEQ	-	-
4	c.325G>T (Reported 2 times)	-	r.(?)	p.(Glu109*)	EMD_00035	-	germline (inherited)	-	Manilal, Yates, Hodgson, Cole	DNA	SEQ	-	-
4	c.356dupA	-	r.(?)	p.(Ser120Valfs*9)	EMD_00091	-	germline (inherited)	-	-	DNA	SEQ	-	-
4	c.358delT	-	r.(?)	p.(Ser120Glnfs*2)	EMD_00074	-	germline (inherited)	-	EMD-Wehnert, 1998	DNA	SEQ	-	-
4	c.359_362del	-	r.(?)	p.(Ser120*)	EMD_00036	-	germline (inherited)	-	Manilal, Yates	DNA	SEQ	-	-
4	c.397C>T	-	r.(?)	p.(Gln133*)	EMD_00075	-	germline (inherited)	-	EMD-Toniolo, 1996	DNA	SEQ	-	-
4	c.399G>T	-	r.spl?	p.(fs?)	EMD_00038	p.Gln133His not pathogenic (Holt et al.)	germline (inherited)	-	Mora, Holt	DNA	SEQ	-	-
4	c.399+1G>A	-	r.spl?	p.(?)	EMD_00037	-	germline (inherited)	-	Manilal	DNA	SEQ	-	-
4	c.399+1G>C	-	r.spl?	p.(?)	EMD_00076	-	germline (inherited)	-	EMD-Toniolo, 1998	DNA	SEQ	-	-
5	c.430G>T (Reported 2 times)	-	r.(?)	p.(Glu144*)	EMD_00077	-	germline (inherited)	-	EMD-Yates, 1998	DNA	SEQ	-	-
5	c.436G>T	-	r.(?)	p.(Glu146*)	EMD_00108	-	germline (inherited)	-	-	DNA	SEQ	-	-
5	c.441C>A	-	r.(?)	p.(Cys147*)	EMD_00039	-	germline (inherited)	-	Wulff	DNA	HD	-	-
5	c.445G>C	-	r.(?)	p.(Asp149His)	EMD_00040	-	germline (inherited)	-	dbSNP-rs2070818	DNA	?	-	-
5	c.449+1G>A	-	r.[449_450ins449+1_450-1, 449+1g>a]	p.Glu151Cysfs*85	EMD_00041	-	germline (inherited)	-	Nevo 2001	DNA, RNA	RT-PCR, SEQ	-	SfaNI+
5	c.449+1G>T	-	r.spl?	p.(?)	EMD_00092	-	germline (inherited)	-	-	DNA	SEQ	-	-
6	c.450-2A>G (Reported 2 times)	-	r.spl?	p.(?)	EMD_00096	-	germline (inherited)	-	Funakoshi 1999	DNA	SEQ	-	-
6	c.450-?_(1090_?)del (Reported 2 times)	-	r.(?)	p.(?)	EMD_00067	-	germline (inherited)	-	Manilal	DNA	PCR, SEQ	-	-
6	c.450_451ins?	-	r.(?)	p.(fs?)	EMD_00033	-	germline (inherited)	-	EMD-Toniolo	DNA	SEQ	-	-
6	c.461_474delinsG	-	r.(?)	p.(Met154Argfs*79)	EMD_00073	-	germline (inherited)	-	EMD-Kaplan, 1998	DNA	SEQ	-	-
6	c.465C>T	-	r.(?)	p.(=)	EMD_00114	-	unknown	-	from website Emory Genetics Lab	DNA	SEQ	-	-
6	c.469delC	-	r.(?)	p.(Arg157Glyfs*80)	EMD_00078	-	germline (inherited)	-	EMD-Kaplan, 1998	DNA	SEQ	-	-
6	c.472delG	-	r.(?)	p.(Asp158Thrfs*79)	EMD_00103	-	germline (inherited)	-	-	DNA	SEQ	-	-
6	c.506_507del	-	r.506_507del	p.Pro169Argfs*40	EMD_00079	-	germline (inherited)	-	Bione, (OMIM 0001)	RNA, DNA	RT-PCR, SEQ	-	-
6	c.511_512insTA	-	r.(?)	p.(Ser171Leufs*67)	EMD_00042	-	germline (inherited)	-	Wulff, Wulff 1997	DNA	HD	-	-
6	c.512C>A	-	r.(?)	p.(Ser171*)	EMD_00043	-	germline (inherited)	-	Menache	DNA	SEQ	-	-
6	c.543T>G	-	r.(?)	p.(Tyr181*)	EMD_00047	-	germline (inherited)	-	Wehnert (1999) Hum.Genet. 104:114	DNA	SEQ	-	-
6	c.546T>A (Reported 2 times)	-	r.(?)	p.(Tyr182*)	EMD_00093	-	germline (inherited)	-	-	DNA	SEQ	-	-
6	c.547C>A	-	r.(?)	p.(Pro183Thr)	EMD_00044	-	germline (inherited)	-	Yates, Ellis, (OMIM 0009)	DNA	SEQ	-	-
6	c.548C>A	-	r.(?)	p.Pro183His	EMD_00080	-	germline (inherited)	-	Ellis, (OMIM 0008)	RNA, DNA	RT-PCR, SEQ	-	-
6	c.566_570del	-	r.(?)	p.(Ser189Tyrfs*19)	EMD_00094	-	germline (inherited)	-	-	DNA	SEQ	-	-
6	c.600G>A	-	r.(?)	p.(Trp200*)	EMD_00081	-	germline (inherited)	-	EMD-Brown, 2001	DNA	SEQ	-	-
6	c.601_611del	-	r.601_611del	p.Leu201Cysfs*5	EMD_00082	-	germline (inherited)	-	Ichikawa	DNA, RNA	RT-PCR, SEQ	-	-
6	c.608G>A	-	r.(?)	p.(Arg203His)	EMD_00097	-	germline (inherited)	-	Funakoshi 1999	DNA	SEQ	-	-
6	c.615delC	-	r.(?)	p.(Ile206Serfs*31)	EMD_00045	-	germline (inherited)	-	Yamada, Goto, (OMIM 0007)	DNA	SEQ	-	-
6	c.617_620del (Reported 2 times)	-	r.(?)	p.(Ile206Serfs*30)	EMD_00046	-	germline (inherited)	-	Manilal	DNA	SEQ	-	-
6	c.619delC	-	r.(?)	p.(Arg207Glyfs*30)	EMD_00083	-	germline (inherited)	-	EMD-Kaplan, 1998	DNA	SEQ	-	-
6	c.621delG	-	r.(?)	p.(Arg207Serfs*29)	EMD_00048	-	germline (inherited)	-	Bione, Wulff, Consalez	DNA	HD	-	-
6	c.623_730del	-	r.(?)	p.(Pro208_Tyr243del)	EMD_00084	-	germline (inherited)	-	Wehnert (2001) Hum.Genet. 109:243	DNA	SEQ	-	-
6	c.649_650ins33	650ins33	r.(?)	p.(?)	EMD_00098	-	germline (inherited)	-	UMD: Wehnert unpublished	DNA	SEQ	-	-
6	c.650_654dup (Reported 5 times)	-	r.(?)	p.(Gln219Trpfs*20)	EMD_00085	-	germline (inherited)	-	EMD-Toniolo, 1998	DNA	SEQ	-	-
6	c.654_658dup	-	r.(?)	p.(Asp220Alafs*19)	EMD_00090	-	germline (inherited)	-	Zacharias	DNA	SEQ	-	-
6	c.655C>T	-	r.(?)	p.(Gln219*)	EMD_00052	-	germline (inherited)	-	Wehnert (1999) Hum.Genet. 104:114	DNA	SEQ	-	-
6	c.662_663ins36	663ins36	r.(?)	p.(?)	EMD_00099	-	germline (inherited)	-	UMD: Wehnert unpublished	DNA	SEQ	-	-
6	c.674_678del (Reported 2 times)	-	r.(?)	p.(Leu225Argfs*23)	EMD_00049	-	germline (inherited)	-	Yates	DNA	SEQ	-	-
6	c.677G>A (Reported 3 times)	-	r.(?)	p.(Trp226*)	EMD_00086	-	germline (inherited)	-	Nagano	DNA	SSCA	-	BfaI+

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Legend: [ EMD full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: number of exon/intron containing variant DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change EMD DB-ID: DB-ID Variant remarks: Variant remarks Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) Segregation: indicates whether the variant segregates with the disease (yes), does not segregate with the disease (no) or segregation is unknown (?) Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site

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Emery-Dreifuss muscular dystrophy (emerin) (EMD)