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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Muscular Dystrophies (D009136)
..Starting node ..Muscular Dystrophy, Duchenne (D020388)
Child Nodes:
........Benign Pseudohypertrophic Muscular Dystrophy (C570377)
Sister Nodes:
..Alpha-B Crystallinopathy with Cataract (C563849)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Bassoe syndrome (C537661)
..Bethlem myopathy (C535436)
..Distal Myopathies (D049310) 11
..Filaminopathy, autosomal dominant (C537932)
..Glycogen Storage Disease Type VII (D006014)
..Muscular Dystrophies, Limb-Girdle (D049288) 33
..Muscular dystrophy congenital, merosin negative (C537384)
..Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..Muscular Dystrophy, Barnes Type (C563558)
..Muscular Dystrophy, Cardiac Type (C563247)
..Muscular Dystrophy, Congenital, 1B (C565748)
..Muscular Dystrophy, Congenital, 1C (C564691)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency (C567709)
..Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency (C564317)
..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..Muscular Dystrophy, Congenital, Lmna-Related (C567708)
..Muscular Dystrophy, Congenital, Megaconial Type (C566527)
..Muscular Dystrophy, Congenital, Merosin-Positive (C563716)
..Muscular Dystrophy, Congenital, plus Mental Retardation (C565505)
..Muscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..Muscular Dystrophy, Congenital, Type 1D (C563844)
..Muscular Dystrophy, Congenital, With Cerebellar Atrophy (C566392)
..Muscular Dystrophy, Congenital, with Rapid Progression (C564983)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Muscular Dystrophy, Duchenne (D020388) 1
..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
..Muscular Dystrophy, Facioscapulohumeral (D020391) 4
..Muscular Dystrophy, Mabry Type (C564096)
..Muscular Dystrophy, Oculopharyngeal (D039141) 1
..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
..Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries (C563554)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 (OMIM:613152)
..Myopathy with Abnormal Lipid Metabolism (C562935)
..Myopathy, Myofibrillar, Desmin-Related (C563319)
..Myopathy, Myofibrillar, Zasp-Related (C563718)
..Myotonic Dystrophy (D009223) 1
..Oculopharyngodistal Myopathy (C563508)
..Rigid spine syndrome (C535683)
..Scleroatonic muscular dystrophy (C537521)
..Vacuolar Neuromyopathy (C566617)
..Walker-Warburg Syndrome (D058494) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7527

Name:

Muscular Dystrophy, Duchenne

Definition:

An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

Alternative IDs:

OMIM:300376|OMIM:310200

ParentIDs:

MESH:D009136|MESH:D040181

TreeNumbers:

C05.651.534.500.300 |C10.668.491.175.500.300 |C16.320.322.562 |C16.320.577.300

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: D020388
MeSH: D020388
OMIM: 300376;

Genes: DMD;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003581	Adult onset
3	HP:0011675	Arrhythmia
4	HP:0003707	Calf muscle pseudohypertrophy
5	HP:0001638	Cardiomyopathy
6	HP:0003236	Elevated circulating creatine kinase concentration
7	HP:0001265	Hyporeflexia
8	HP:0001324	Muscle weakness
9	HP:0003560	Muscular dystrophy
10	HP:0003326	Myalgia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_004006.2(DMD):c.10554-2A>G	1756	DMD	Pathogenic	794727890	RCV000180067; RCV000180065; RCV000180066;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31165637	31165637	NM_004006.2:c.10554-2A>G		NC_000023.10:g.31165637T>C	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.10446_10447delCT (p.Ser3483Profs)	1756	DMD	Pathogenic	398123837	RCV000180057; RCV000180056; RCV000080419;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31187666	31187667	NM_004006.2:c.10446_10447delCT	NP_003997.1:p.Ser3483Profs	NC_000023.10:g.31187666_31187667delAG	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.10262C>T (p.Ala3421Val)	1756	DMD	Pathogenic	104894791	RCV000012027;	N	MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	31196049	31196049	NM_004006.2:c.10262C>T	NP_003997.1:p.Ala3421Val	NC_000023.10:g.31196049G>A	OMIM Allelic Variant:300377.0070	C0917713 300376 Becker muscular dystrophy
NM_004019.2(DMD):c.1020G>A (p.Thr340=)	1756	DMD	Pathogenic	398123834	RCV000180032; RCV000180031; RCV000080415;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31196785	31196785	NM_004019.2:c.1020G>A	NP_004010.1:p.Thr340=	NC_000023.10:g.31196785C>G,NC_000023.10:g.31196785C>T	HGMD:CS930792	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.10171C>T (p.Arg3391Ter)	1756	DMD	Pathogenic	398123832	RCV000180030; RCV000180029; RCV000080413; RCV000183403;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045; MedGen:CN221809	X	31196838	31196838	NM_004006.2:c.10171C>T	NP_003997.1:p.Arg3391Ter	NC_000023.10:g.31196838G>A	HGMD:CM960493	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy; CN221809 not provided
NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter)	1756	DMD	Pathogenic	104894787	RCV000011964; RCV000180033; RCV000150054;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31196901	31196901	NM_004006.2:c.10108C>T	NP_003997.1:p.Arg3370Ter	NC_000023.10:g.31196901G>A	HGMD:CM084898,OMIM Allelic Variant:300377.0007	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.10086+1G>A	1756	DMD	Pathogenic	398123828	RCV000179689; RCV000179688; RCV000080405;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31198486	31198486	NM_004006.2:c.10086+1G>A		NC_000023.10:g.31198486C>T	HGMD:CS951395	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.10033C>T (p.Arg3345Ter)	1756	DMD	Pathogenic	398123827	RCV000179687; RCV000179686; RCV000080404;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31198540	31198540	NM_004006.2:c.10033C>T	NP_003997.1:p.Arg3345Ter	NC_000023.10:g.31198540G>A	HGMD:CM001666	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9978C>G (p.Tyr3326Ter)	1756	DMD	Pathogenic	794727832	RCV000179684; RCV000179685;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	31198595	31198595	NM_004006.2:c.9978C>G	NP_003997.1:p.Tyr3326Ter	NC_000023.10:g.31198595G>C	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9862G>T (p.Glu3288Ter)	1756	DMD	Pathogenic	398124106	RCV000179678; RCV000179677; RCV000080863;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31200967	31200967	NM_004006.2:c.9862G>T	NP_003997.1:p.Glu3288Ter	NC_000023.10:g.31200967C>A	HGMD:CM073004	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_000109.3(DMD):c.9658T>C (p.Phe3220Leu)	1756	DMD	Likely benign	141392048	RCV000148462; RCV000179673; RCV000179672; RCV000080855; RCV000217993;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045; MedGen:CN169374	X	31222203	31222203	NM_000109.3:c.9658T>C	NP_000100.2:p.Phe3220Leu	NC_000023.10:g.31222203A>G	HGMD:CM024513	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy; CN169374 not specified; C0007193 Primary dilated cardiomyopathy
NM_004006.2(DMD):c.9650-2A>G	1756	DMD	Pathogenic	398124100	RCV000179671; RCV000179670; RCV000080854;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31222237	31222237	NM_004006.2:c.9650-2A>G		NC_000023.10:g.31222237T>C	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter)	1756	DMD	Pathogenic	104894797	RCV000012033; RCV000179664; RCV000150055;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31224780	31224780	NM_004006.2:c.9568C>T	NP_003997.1:p.Arg3190Ter	NC_000023.10:g.31224780G>A	HGMD:CM980563,OMIM Allelic Variant:300377.0076	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9564-1G>A	1756	DMD	Pathogenic	398124096	RCV000179663; RCV000179662; RCV000080843;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31224785	31224785	NM_004006.2:c.9564-1G>A		NC_000023.10:g.31224785C>T	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9361+1G>A	1756	DMD	Pathogenic	398124094	RCV000179643; RCV000179642; RCV000080839;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31241163	31241163	NM_004006.2:c.9361+1G>A		NC_000023.10:g.31241163C>G,NC_000023.10:g.31241163C>T	HGMD:CS098771	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9361+1G>C	1756	DMD	Pathogenic	398124094	RCV000179639; RCV000179638; RCV000080840;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31241163	31241163	NM_004006.2:c.9361+1G>C		NC_000023.10:g.31241163C>G,NC_000023.10:g.31241163C>T	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9337C>T (p.Arg3113Ter)	1756	DMD	Pathogenic	398124092	RCV000179641; RCV000179640; RCV000080837;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31241188	31241188	NM_004006.2:c.9337C>T	NP_003997.1:p.Arg3113Ter	NC_000023.10:g.31241188G>A	HGMD:CM095966	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9225-285A>G	1756	DMD	Pathogenic	587776747	RCV000012038;	N	MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	31279418	31279418	NM_004006.2:c.9225-285A>G		X:g.31279418T>C	OMIM Allelic Variant:300377.0080	C0917713 300376 Becker muscular dystrophy
NM_004006.2(DMD):c.9225-647A>G	1756	DMD	Pathogenic	398124091	RCV000179616; RCV000179615; RCV000080835;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31279780	31279780	NM_004006.2:c.9225-647A>G		NC_000023.10:g.31279780T>C	HGMD:CS095959	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9216C>G (p.Tyr3072Ter)	1756	DMD	Pathogenic	794727820	RCV000179602; RCV000179603;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	31341723	31341723	NM_004006.2:c.9216C>G	NP_003997.1:p.Tyr3072Ter	NC_000023.10:g.31341723G>C	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9164-1G>C	1756	DMD	Pathogenic	398124082	RCV000152758; RCV000152757; RCV000152759;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31341776	31341776	NM_004006.2:c.9164-1G>C		NC_000023.10:g.31341776C>A,NC_000023.10:g.31341776C>G	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9125delA (p.His3042Profs)	1756	DMD	Pathogenic	398124080	RCV000179588; RCV000179587; RCV000080821;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31366711	31366711	NM_004006.2:c.9125delA	NP_003997.1:p.His3042Profs	NC_000023.10:g.31366711delT	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.8912_8913delTC (p.Leu2971Profs)	1756	DMD	Pathogenic	398124078	RCV000179223; RCV000179222; RCV000080816;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31496247	31496248	NM_004006.2:c.8912_8913delTC	NP_003997.1:p.Leu2971Profs	NC_000023.10:g.31496247_31496248delGA	HGMD:CD115813	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.8762A>G (p.His2921Arg)	1756	DMD	Benign;Pathogenic	1800279	RCV000012020; RCV000080812;	N	MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:CN169374	X	31496398	31496398	NM_004006.2:c.8762A>G	NP_003997.1:p.His2921Arg	NC_000023.10:g.31496398T>C	OMIM Allelic Variant:300377.0063	C0917713 300376 Becker muscular dystrophy; CN169374 not specified
NM_004006.2(DMD):c.8713C>T (p.Arg2905Ter)	1756	DMD	Pathogenic	128627256	RCV000012040; RCV000179221; RCV000150057;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31496447	31496447	NM_004006.2:c.8713C>T	NP_003997.1:p.Arg2905Ter	NC_000023.10:g.31496447G>A	HGMD:CM950347,OMIM Allelic Variant:300377.0082	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.8680G>T (p.Glu2894Ter)	1756	DMD	Pathogenic	727503802	RCV000152767; RCV000152766; RCV000152768;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31496480	31496480	NM_004006.2:c.8680G>T	NP_003997.1:p.Glu2894Ter	NC_000023.10:g.31496480C>A	HGMD:CM098456	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.8669-2A>C	1756	DMD	Pathogenic	794727770	RCV000179225; RCV000179224;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	31496493	31496493	NM_004006.2:c.8669-2A>C		NC_000023.10:g.31496493T>G	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.8656C>T (p.Gln2886Ter)	1756	DMD	Pathogenic	201361100	RCV000179209; RCV000179208; RCV000179207;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31497112	31497112	NM_004006.2:c.8656C>T	NP_003997.1:p.Gln2886Ter	NC_000023.10:g.31497112G>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.8652_8653delCT (p.Tyr2885Profs)	1756	DMD	Pathogenic	398124075	RCV000179206; RCV000179205; RCV000080804;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31497115	31497116	NM_004006.2:c.8652_8653delCT	NP_003997.1:p.Tyr2885Profs	NC_000023.10:g.31497115_31497116delAG	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.8608C>T (p.Arg2870Ter)	1756	DMD	Pathogenic	398124074	RCV000179204; RCV000179203; RCV000080803;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31497160	31497160	NM_004006.2:c.8608C>T	NP_003997.1:p.Arg2870Ter	NC_000023.10:g.31497160G>A	HGMD:CM013379	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.8374_8375delAA (p.Lys2792Valfs)	1756	DMD	Pathogenic	398124070	RCV000179178; RCV000179177; RCV000080797;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31525413	31525414	NM_004006.2:c.8374_8375delAA	NP_003997.1:p.Lys2792Valfs	NC_000023.10:g.31525413_31525414delTT	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.8184delC (p.Lys2729Argfs)	1756	DMD	Pathogenic	794727763	RCV000179163; RCV000179164;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	31645823	31645823	NM_004006.2:c.8184delC	NP_003997.1:p.Lys2729Argfs	NC_000023.10:g.31645823delG	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.8064_8065delTA (p.His2688Glnfs)	1756	DMD	Pathogenic	398124060	RCV000179166; RCV000179165; RCV000080778;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31645942	31645943	NM_004006.2:c.8064_8065delTA	NP_003997.1:p.His2688Glnfs	NC_000023.10:g.31645942_31645943delTA	HGMD:CD050848	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.7894C>T (p.Gln2632Ter)	1756	DMD	Pathogenic	398124058	RCV000179149; RCV000179148; RCV000080774;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31676240	31676240	NM_004006.2:c.7894C>T	NP_003997.1:p.Gln2632Ter	NC_000023.10:g.31676240G>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.7683G>A (p.Trp2561Ter)	1756	DMD	Pathogenic	398124053	RCV000179124; RCV000179123; RCV000080768;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31697681	31697681	NM_004006.2:c.7683G>A	NP_003997.1:p.Trp2561Ter	NC_000023.10:g.31697681C>T	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.7682G>A (p.Trp2561Ter)	1756	DMD	Pathogenic	398124052	RCV000179126; RCV000179125; RCV000080767;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31697682	31697682	NM_004006.2:c.7682G>A	NP_003997.1:p.Trp2561Ter	NC_000023.10:g.31697682C>T	HGMD:CM098445	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.7657C>T (p.Arg2553Ter)	1756	DMD	Pathogenic	398124050	RCV000179107; RCV000179106; RCV000080765;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31747751	31747751	NM_004006.2:c.7657C>T	NP_003997.1:p.Arg2553Ter	NC_000023.10:g.31747751G>A	HGMD:CM040026	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.7444delC (p.Thr2483Profs)	1756	DMD	Pathogenic	794727749	RCV000179092; RCV000179091;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	31792175	31792175	NM_004006.2:c.7444delC	NP_003997.1:p.Thr2483Profs	NC_000023.10:g.31792175delG	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.7309+1G>A	1756	DMD	Pathogenic	398124044	RCV000179071; RCV000179070; RCV000080753;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31838091	31838091	NM_004006.2:c.7309+1G>A		NC_000023.10:g.31838091C>T	HGMD:CS982164	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.7295_7296delCC (p.Thr2432Asnfs)	1756	DMD	Pathogenic	794727746	RCV000179075; RCV000179074;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	31838105	31838106	NM_004006.2:c.7295_7296delCC	NP_003997.1:p.Thr2432Asnfs	NC_000023.10:g.31838105_31838106delGG	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.7247dupT (p.Leu2416Phefs)	1756	DMD	Pathogenic	797044764	RCV000179072; RCV000179073;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	31838154	31838154	NM_004006.2:c.7247dupT	NP_003997.1:p.Leu2416Phefs	NC_000023.10:g.31838154dupA	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.7189C>T (p.Gln2397Ter)	1756	DMD	Pathogenic	398124042	RCV000178691; RCV000178690; RCV000080751;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31854846	31854846	NM_004006.2:c.7189C>T	NP_003997.1:p.Gln2397Ter	NC_000023.10:g.31854846G>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.6982A>T (p.Lys2328Ter)	1756	DMD	Pathogenic	754896795	RCV000178663; RCV000178664; RCV000178665;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31893421	31893421	NM_004006.2:c.6982A>T	NP_003997.1:p.Lys2328Ter	NC_000023.10:g.31893421T>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.6906G>A (p.Trp2302Ter)	1756	DMD	Pathogenic	398124036	RCV000178630; RCV000178629; RCV000080743;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	31947719	31947719	NM_004006.2:c.6906G>A	NP_003997.1:p.Trp2302Ter	NC_000023.10:g.31947719C>A,NC_000023.10:g.31947719C>T	HGMD:CM098439	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.6673_6674insGTTT (p.Leu2225Cysfs)	1756	DMD	Pathogenic	797044743	RCV000178600; RCV000178601;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	31950285	31950286	NM_004006.2:c.6673_6674insGTTT	NP_003997.1:p.Leu2225Cysfs	NC_000023.10:g.31950285_31950286insAAAC	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.6373C>T (p.Gln2125Ter)	1756	DMD	Pathogenic	128626251	RCV000012012; RCV000178554; RCV000150064;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32235098	32235098	NM_004006.2:c.6373C>T	NP_003997.1:p.Gln2125Ter	NC_000023.10:g.32235098G>A	HGMD:CM940357,OMIM Allelic Variant:300377.0055	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.6238delC (p.Gln2080Serfs)	1756	DMD	Pathogenic	794727672	RCV000178528; RCV000178529; RCV000178530;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32305698	32305698	NM_004006.2:c.6238delC	NP_003997.1:p.Gln2080Serfs	NC_000023.10:g.32305698delG	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.6182delC (p.Ala2061Glufs)	1756	DMD	Pathogenic	398124005	RCV000178527; RCV000178526; RCV000080685;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32305754	32305754	NM_004006.2:c.6182delC	NP_003997.1:p.Ala2061Glufs	NC_000023.10:g.32305754delG	HGMD:CD096426	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.6072T>A (p.Cys2024Ter)	1756	DMD	Pathogenic	373804251	RCV000178500; RCV000178499; RCV000080682;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32328244	32328244	NM_004006.2:c.6072T>A	NP_003997.1:p.Cys2024Ter	NC_000023.10:g.32328244A>T	HGMD:CM096759	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.6000T>A (p.Tyr2000Ter)	1756	DMD	Pathogenic	398124002	RCV000178498; RCV000178497; RCV000080679;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32328316	32328316	NM_004006.2:c.6000T>A	NP_003997.1:p.Tyr2000Ter	NC_000023.10:g.32328316A>T	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.5938G>T (p.Glu1980Ter)	1756	DMD	Pathogenic	398124001	RCV000178496; RCV000178495; RCV000080677;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32328378	32328378	NM_004006.2:c.5938G>T	NP_003997.1:p.Glu1980Ter	NC_000023.10:g.32328378C>A	HGMD:CM115775	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.5697delA (p.Lys1899Asnfs)	1756	DMD	Pathogenic	794727661	RCV000178433; RCV000178434; RCV000178435;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32361293	32361293	NM_004006.2:c.5697delA	NP_003997.1:p.Lys1899Asnfs	NC_000023.10:g.32361293delT	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.5640T>A (p.Tyr1880Ter)	1756	DMD	Pathogenic	398123993	RCV000178432; RCV000178431; RCV000080666;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32361350	32361350	NM_004006.2:c.5640T>A	NP_003997.1:p.Tyr1880Ter	NC_000023.10:g.32361350A>T	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.5530C>T (p.Arg1844Ter)	1756	DMD	Pathogenic	1064325	RCV000178001; RCV000178000; RCV000080659;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32364116	32364116	NM_004006.2:c.5530C>T	NP_003997.1:p.Arg1844Ter	NC_000023.10:g.32364116G>A	HGMD:CM040024	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.5363C>G (p.Ser1788Ter)	1756	DMD	Pathogenic	199774535	RCV000152880; RCV000152879; RCV000152881;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32366608	32366608	NM_004006.2:c.5363C>G	NP_003997.1:p.Ser1788Ter	NC_000023.10:g.32366608G>C	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.5287C>T (p.Arg1763Ter)	1756	DMD	Pathogenic	398123981	RCV000177912; RCV000177911; RCV000080648;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32380943	32380943	NM_004006.2:c.5287C>T	NP_003997.1:p.Arg1763Ter	NC_000023.10:g.32380943G>A	HGMD:CM098419	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.5124_5127delGAAA (p.Lys1708Asnfs)	1756	DMD	Pathogenic	398123979	RCV000177876; RCV000177875; RCV000080643;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32382726	32382729	NM_004006.2:c.5124_5127delGAAA	NP_003997.1:p.Lys1708Asnfs	NC_000023.10:g.32382726_32382729delTTTC	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.4806A>T (p.Gly1602=)	1756	DMD	Pathogenic;Uncertain significance	727503830	RCV000177781; RCV000177782; RCV000152893;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:CN221809	X	32398666	32398666	NM_004006.2:c.4806A>T	NP_003997.1:p.Gly1602=	NC_000023.10:g.32398666T>A	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy; CN221809 not provided
NM_004006.2(DMD):c.4675-2A>G	1756	DMD	Pathogenic	794727575	RCV000177779; RCV000177780;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32398799	32398799	NM_004006.2:c.4675-2A>G		NC_000023.10:g.32398799T>C	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.4545_4549delGAAGT (p.Lys1516Terfs)	1756	DMD	Pathogenic	398123962	RCV000177744; RCV000177743; RCV000080624;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32404552	32404556	NM_004006.2:c.4545_4549delGAAGT	NP_003997.1:p.Lys1516Terfs	NC_000023.10:g.32404552_32404556delACTTC	HGMD:CD013466	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.4534_4535delCT (p.Leu1512Glufs)	1756	DMD	Pathogenic	398123961	RCV000177742; RCV000177741; RCV000080623;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32404566	32404567	NM_004006.2:c.4534_4535delCT	NP_003997.1:p.Leu1512Glufs	NC_000023.10:g.32404566_32404567delAG	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.4523delT (p.Leu1508Cysfs)	1756	DMD	Pathogenic	794727567	RCV000177740; RCV000177739;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32404578	32404578	NM_004006.2:c.4523delT	NP_003997.1:p.Leu1508Cysfs	NC_000023.10:g.32404578delA	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.4471_4472delAA (p.Lys1491Glufs)	1756	DMD	Pathogenic	398123957	RCV000177650; RCV000177649; RCV000080617;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32407664	32407665	NM_004006.2:c.4471_4472delAA	NP_003997.1:p.Lys1491Glufs	NC_000023.10:g.32407664_32407665delTT	HGMD:CD098820	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.4315A>T (p.Arg1439Ter)	1756	DMD	Pathogenic	794727550	RCV000177555; RCV000177554;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32408217	32408217	NM_004006.2:c.4315A>T	NP_003997.1:p.Arg1439Ter	NC_000023.10:g.32408217T>A	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.4117C>T (p.Gln1373Ter)	1756	DMD	Pathogenic	398123948	RCV000177468; RCV000177467; RCV000080601;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32429985	32429985	NM_004006.2:c.4117C>T	NP_003997.1:p.Gln1373Ter	NC_000023.10:g.32429985G>A	HGMD:CM100264	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.3940C>T (p.Arg1314Ter)	1756	DMD	Pathogenic	5030730	RCV000201024; RCV000012034; RCV000183404;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:CN221809	X	32456489	32456489	NM_004006.2:c.3940C>T	NP_003997.1:p.Arg1314Ter	NC_000023.10:g.32456489G>A	OMIM Allelic Variant:300377.0077	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy; CN221809 not provided
NM_004006.2(DMD):c.3838A>T (p.Lys1280Ter)	1756	DMD	Pathogenic	794727463	RCV000176871; RCV000176872;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32459380	32459380	NM_004006.2:c.3838A>T	NP_003997.1:p.Lys1280Ter	NC_000023.10:g.32459380T>A	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.3779_3785delCTTTGGAinsGG (p.Thr1260Argfs)	1756	DMD	Pathogenic	398123946	RCV000176740; RCV000176739; RCV000080595;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32466574	32466580	NM_004006.2:c.3779_3785delCTTTGGAinsGG	NP_003997.1:p.Thr1260Argfs	NC_000023.10:g.32466574_32466580delTCCAAAGinsCC	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.3747delG (p.Trp1249Cysfs)	1756	DMD	Pathogenic	398123945	RCV000176744; RCV000176743; RCV000080594;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32466612	32466612	NM_004006.2:c.3747delG	NP_003997.1:p.Trp1249Cysfs	NC_000023.10:g.32466612delC	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.3639dupA (p.Val1214Serfs)	1756	DMD	Pathogenic	398123943	RCV000176742; RCV000176741; RCV000080590;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32466720	32466720	NM_004006.2:c.3639dupA	NP_003997.1:p.Val1214Serfs	NC_000023.10:g.32466720dupT	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.3631G>T (p.Glu1211Ter)	1756	DMD	Pathogenic	267606771	RCV000012031;	N	MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32466728	32466728	NM_004006.2:c.3631G>T	NP_003997.1:p.Glu1211Ter	NC_000023.10:g.32466728C>A	OMIM Allelic Variant:300377.0074	C0917713 300376 Becker muscular dystrophy
NM_004006.2(DMD):c.3603+2T>A	1756	DMD	Pathogenic	146071084	RCV000176660; RCV000176661; RCV000080587;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:CN221809	X	32472777	32472777	NM_004006.2:c.3603+2T>A		NC_000023.10:g.32472777A>T	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy; CN221809 not provided
NM_004006.2(DMD):c.3580C>T (p.Gln1194Ter)	1756	DMD	Pathogenic	398123942	RCV000176666; RCV000176665; RCV000080586;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32472802	32472802	NM_004006.2:c.3580C>T	NP_003997.1:p.Gln1194Ter	NC_000023.10:g.32472802G>A	HGMD:CM010818	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.3535G>T (p.Glu1179Ter)	1756	DMD	Pathogenic	794727422	RCV000176662; RCV000176663; RCV000176664;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32472847	32472847	NM_004006.2:c.3535G>T	NP_003997.1:p.Glu1179Ter	NC_000023.10:g.32472847C>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.3532G>T (p.Glu1178Ter)	1756	DMD	Pathogenic	727503836	RCV000152917; RCV000152916; RCV000152918;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32472850	32472850	NM_004006.2:c.3532G>T	NP_003997.1:p.Glu1178Ter	NC_000023.10:g.32472850C>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.3497_3500delTATC (p.Leu1166Glnfs)	1756	DMD	Pathogenic	794727421	RCV000176658; RCV000176659;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32472882	32472885	NM_004006.2:c.3497_3500delTATC	NP_003997.1:p.Leu1166Glnfs	NC_000023.10:g.32472882_32472885delGATA	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.3432+1G>A	1756	DMD	Pathogenic	398123937	RCV000176555; RCV000176554; RCV000080578;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32481555	32481555	NM_004006.2:c.3432+1G>A		NC_000023.10:g.32481555C>T	HGMD:CS067088	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter)	1756	DMD	Pathogenic	398123935	RCV000176553; RCV000176552; RCV000080573;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32481693	32481693	NM_004006.2:c.3295C>T	NP_003997.1:p.Gln1099Ter	NC_000023.10:g.32481693G>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.3276+1G>A	1756	DMD	Pathogenic	398123934	RCV000176479; RCV000176478; RCV000080572;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32482702	32482702	NM_004006.2:c.3276+1G>A		NC_000023.10:g.32482702C>T	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2956C>T (p.Gln986Ter)	1756	DMD	Pathogenic	727503844	RCV000152954; RCV000152955; RCV000176399;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32486821	32486821	NM_004006.2:c.2956C>T	NP_003997.1:p.Gln986Ter	NC_000023.10:g.32486821G>A	HGMD:CM096752	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2933_2934delGA (p.Arg978Thrfs)	1756	DMD	Pathogenic	794727359	RCV000176305; RCV000176306;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32490296	32490297	NM_004006.2:c.2933_2934delGA	NP_003997.1:p.Arg978Thrfs	NC_000023.10:g.32490296_32490297delTC	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2816T>A (p.Leu939Ter)	1756	DMD	Pathogenic	398123910	RCV000176300; RCV000176299; RCV000080526;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32490414	32490414	NM_004006.2:c.2816T>A	NP_003997.1:p.Leu939Ter	NC_000023.10:g.32490414A>T	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2815_2816delTT (p.Leu939Alafs)	1756	DMD	Pathogenic	794727358	RCV000176303; RCV000176304;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32490414	32490415	NM_004006.2:c.2815_2816delTT	NP_003997.1:p.Leu939Alafs	NC_000023.10:g.32490414_32490415delAA	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2804-1G>A	1756	DMD	Pathogenic	398123909	RCV000176302; RCV000176301; RCV000080525;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32490427	32490427	NM_004006.2:c.2804-1G>A		NC_000023.10:g.32490427C>T	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2804-2A>T	1756	DMD	Pathogenic	794727357	RCV000176298; RCV000176296; RCV000176297;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32490428	32490428	NM_004006.2:c.2804-2A>T		NC_000023.10:g.32490428T>A,NC_000023.10:g.32490428T>G	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2803+1G>C	1756	DMD	Pathogenic	398123908	RCV000176205; RCV000176206;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32503035	32503035	NM_004006.2:c.2803+1G>C		NC_000023.10:g.32503035C>A,NC_000023.10:g.32503035C>G,NC_000023.10:g.32503035C>T	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2755A>T (p.Lys919Ter)	1756	DMD	Pathogenic	727503850	RCV000152963; RCV000152962; RCV000152964;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32503084	32503084	NM_004006.2:c.2755A>T	NP_003997.1:p.Lys919Ter	NC_000023.10:g.32503084T>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2650C>T (p.Gln884Ter)	1756	DMD	Pathogenic	398123903	RCV000176203; RCV000176202; RCV000080518;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32503189	32503189	NM_004006.2:c.2650C>T	NP_003997.1:p.Gln884Ter	NC_000023.10:g.32503189G>A	HGMD:CM070907	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2601_2602delAA (p.Gln869Valfs)	1756	DMD	Pathogenic	794727322	RCV000176068; RCV000176069;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32509414	32509415	NM_004006.2:c.2601_2602delAA	NP_003997.1:p.Gln869Valfs	NC_000023.10:g.32509414_32509415delTT	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2547delT (p.Glu850Lysfs)	1756	DMD	Pathogenic	398123895	RCV000176076; RCV000176075; RCV000080508;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32509469	32509469	NM_004006.2:c.2547delT	NP_003997.1:p.Glu850Lysfs	NC_000023.10:g.32509469delA	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2484T>G (p.Tyr828Ter)	1756	DMD	Pathogenic	727503858	RCV000153000; RCV000152999; RCV000153001;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32509532	32509532	NM_004006.2:c.2484T>G	NP_003997.1:p.Tyr828Ter	NC_000023.10:g.32509532A>C	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2419C>T (p.Gln807Ter)	1756	DMD	Pathogenic	398123888	RCV000176074; RCV000176073; RCV000080499;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32509597	32509597	NM_004006.2:c.2419C>T	NP_003997.1:p.Gln807Ter	NC_000023.10:g.32509597G>A	HGMD:CM098382	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2381-1G>T	1756	DMD	Pathogenic	398123887	RCV000176072; RCV000176071; RCV000080496;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32509636	32509636	NM_004006.2:c.2381-1G>T		NC_000023.10:g.32509636C>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2380+1G>C	1756	DMD	Pathogenic	398123884	RCV000175445; RCV000175444; RCV000080493;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32519871	32519871	NM_004006.2:c.2380+1G>C		NC_000023.10:g.32519871C>G	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2332C>T (p.Gln778Ter)	1756	DMD	Pathogenic	398123883	RCV000175441; RCV000175440; RCV000080492;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32519920	32519920	NM_004006.2:c.2332C>T	NP_003997.1:p.Gln778Ter	NC_000023.10:g.32519920G>A	HGMD:CM115768	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2294_2297delCCAT (p.Ala765Glufs)	1756	DMD	Pathogenic	398123882	RCV000175443; RCV000175442; RCV000080489;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32519955	32519958	NM_004006.2:c.2294_2297delCCAT	NP_003997.1:p.Ala765Glufs	NC_000023.10:g.32519955_32519958delATGG	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2125delC (p.Gln709Lysfs)	1756	DMD	Pathogenic	398123875	RCV000175180; RCV000175179; RCV000080479;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32563319	32563319	NM_004006.2:c.2125delC	NP_003997.1:p.Gln709Lysfs	NC_000023.10:g.32563319delG	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.2032C>T (p.Gln678Ter)	1756	DMD	Pathogenic	398123872	RCV000175182; RCV000175181; RCV000080476;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32563412	32563412	NM_004006.2:c.2032C>T	NP_003997.1:p.Gln678Ter	NC_000023.10:g.32563412G>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1990C>T (p.Gln664Ter)	1756	DMD	Pathogenic	398123870	RCV000175055; RCV000175054; RCV000080473;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32583821	32583821	NM_004006.2:c.1990C>T	NP_003997.1:p.Gln664Ter	NC_000023.10:g.32583821G>A	HGMD:CM050580	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1912C>T (p.Gln638Ter)	1756	DMD	Pathogenic	794727170	RCV000175050; RCV000175051;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32583899	32583899	NM_004006.2:c.1912C>T	NP_003997.1:p.Gln638Ter	NC_000023.10:g.32583899G>A	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1886C>A (p.Ser629Ter)	1756	DMD	Pathogenic	398123867	RCV000175053; RCV000175052; RCV000080469;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32583925	32583925	NM_004006.2:c.1886C>A	NP_003997.1:p.Ser629Ter	NC_000023.10:g.32583925G>T	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1812+1G>A	1756	DMD	Likely pathogenic;Pathogenic	373286166	RCV000201160; RCV000149882;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32591646	32591646	NM_004006.2:c.1812+1G>A		NC_000023.10:g.32591646C>T	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_000109.3(DMD):c.1700T>C (p.Leu567Pro)	1756	DMD	Pathogenic;Uncertain significance	370644567	RCV000174887; RCV000183406; RCV000148464;	N	MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:CN221546; MedGen:CN221809	X	32591735	32591735	NM_000109.3:c.1700T>C	NP_000100.2:p.Leu567Pro	NC_000023.10:g.32591735A>G	-	C0917713 300376 Becker muscular dystrophy; CN221546 Exertional myalgia, muscle stiffness and myoglobinuria; CN221809 not provided
NM_004006.2(DMD):c.1704+1G>A	1756	DMD	Pathogenic	794727123	RCV000174743; RCV000174742;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32591861	32591861	NM_004006.2:c.1704+1G>A		NC_000023.10:g.32591861C>T	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1615C>T (p.Arg539Ter)	1756	DMD	Pathogenic	398123865	RCV000174745; RCV000174744; RCV000080461;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32591951	32591951	NM_004006.2:c.1615C>T	NP_003997.1:p.Arg539Ter	NC_000023.10:g.32591951G>A	HGMD:CM080213	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1533_1536delTCAC (p.His512Trpfs)	1756	DMD	Pathogenic	794727097	RCV000174531; RCV000174532;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32613940	32613943	NM_004006.2:c.1533_1536delTCAC	NP_003997.1:p.His512Trpfs	NC_000023.10:g.32613940_32613943delGTGA	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1529_1530delTC (p.Leu510Hisfs)	1756	DMD	Pathogenic	398123863	RCV000174530; RCV000174529; RCV000080458;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32613946	32613947	NM_004006.2:c.1529_1530delTC	NP_003997.1:p.Leu510Hisfs	NC_000023.10:g.32613946_32613947delGA	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1482+1G>T	1756	DMD	Pathogenic	398123862	RCV000174327; RCV000174326; RCV000080454;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32632419	32632419	NM_004006.2:c.1482+1G>T		NC_000023.10:g.32632419C>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1465C>T (p.Gln489Ter)	1756	DMD	Pathogenic	398123861	RCV000174319; RCV000174318; RCV000080453;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32632437	32632437	NM_004006.2:c.1465C>T	NP_003997.1:p.Gln489Ter	NC_000023.10:g.32632437G>A	HGMD:CM098369	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1371delG (p.Glu459Serfs)	1756	DMD	Pathogenic	398123857	RCV000174321; RCV000174320; RCV000080448;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32632531	32632531	NM_004006.2:c.1371delG	NP_003997.1:p.Glu459Serfs	NC_000023.10:g.32632531delC	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1341_1342dupAG (p.Val448Glufs)	1756	DMD	Pathogenic	398123856	RCV000174325; RCV000174324; RCV000080447;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32632560	32632561	NM_004006.2:c.1341_1342dupAG	NP_003997.1:p.Val448Glufs	NC_000023.10:g.32632560_32632561dupCT	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1332-9A>G	1756	DMD	Pathogenic	72468700	RCV000174323; RCV000174322; RCV000080445;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32632579	32632579	NM_004006.2:c.1332-9A>G		NC_000023.10:g.32632579T>C	HGMD:CS031439	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_000109.3(DMD):c.1294G>A (p.Glu432Lys)	1756	DMD	Likely benign;Uncertain significance	189143447	RCV000148465; RCV000183380;	N	MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:CN221809	X	32662262	32662262	NM_000109.3:c.1294G>A	NP_000100.2:p.Glu432Lys	NC_000023.10:g.32662262C>T	-	C0917713 300376 Becker muscular dystrophy; CN221809 not provided
NM_004006.2(DMD):c.1306dupG (p.Val436Glyfs)	1756	DMD	Pathogenic	398123854	RCV000174093; RCV000174092; RCV000080441;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32662274	32662274	NM_004006.2:c.1306dupG	NP_003997.1:p.Val436Glyfs	NC_000023.10:g.32662274dupC	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1286C>G (p.Ser429Ter)	1756	DMD	Pathogenic	398123853	RCV000174086; RCV000174085;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32662294	32662294	NM_004006.2:c.1286C>G	NP_003997.1:p.Ser429Ter	NC_000023.10:g.32662294G>C,NC_000023.10:g.32662294G>T	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1261C>T (p.Gln421Ter)	1756	DMD	Pathogenic	398123852	RCV000174090; RCV000174089; RCV000080439;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32662319	32662319	NM_004006.2:c.1261C>T	NP_003997.1:p.Gln421Ter	NC_000023.10:g.32662319G>A	HGMD:CM080201	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1150-2A>G	1756	DMD	Pathogenic	794727030	RCV000174087; RCV000174088;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32662432	32662432	NM_004006.2:c.1150-2A>G		NC_000023.10:g.32662432T>C	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1093C>T (p.Gln365Ter)	1756	DMD	Pathogenic	794726993	RCV000173785; RCV000173786;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32663137	32663137	NM_004006.2:c.1093C>T	NP_003997.1:p.Gln365Ter	NC_000023.10:g.32663137G>A	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1070delC (p.Ser357Leufs)	1756	DMD	Pathogenic	794726994	RCV000173792; RCV000173791; RCV000173793;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32663160	32663160	NM_004006.2:c.1070delC	NP_003997.1:p.Ser357Leufs	NC_000023.10:g.32663160delG	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1048G>T (p.Glu350Ter)	1756	DMD	Pathogenic	398123840	RCV000173788; RCV000173787; RCV000080422;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32663182	32663182	NM_004006.2:c.1048G>T	NP_003997.1:p.Glu350Ter	NC_000023.10:g.32663182C>A	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.1012G>T (p.Glu338Ter)	1756	DMD	Pathogenic	398123830	RCV000173790; RCV000173789; RCV000080410;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32663218	32663218	NM_004006.2:c.1012G>T	NP_003997.1:p.Glu338Ter	NC_000023.10:g.32663218C>A	HGMD:CM098366	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.883C>T (p.Arg295Ter)	1756	DMD	Pathogenic	727503864	RCV000153012; RCV000153011; RCV000153013;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32716064	32716064	NM_004006.2:c.883C>T	NP_003997.1:p.Arg295Ter	NC_000023.10:g.32716064G>A	HGMD:CM080212	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.691T>A (p.Tyr231Asn)	1756	DMD	Pathogenic	128626237	RCV000011992;	N	MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32717369	32717369	NM_004006.2:c.691T>A	NP_003997.1:p.Tyr231Asn	NC_000023.10:g.32717369A>T	OMIM Allelic Variant:300377.0035	C0917713 300376 Becker muscular dystrophy
NM_004006.2(DMD):c.649+1G>A	1756	DMD	Pathogenic	398124032	RCV000179877; RCV000179876; RCV000080736;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32827609	32827609	NM_004006.2:c.649+1G>A		NC_000023.10:g.32827609C>T	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.627delA (p.Ile209Metfs)	1756	DMD	Pathogenic	794727862	RCV000179868; RCV000179869; RCV000179870;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32827632	32827632	NM_004006.2:c.627delA	NP_003997.1:p.Ile209Metfs	NC_000023.10:g.32827632delT	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.615T>A (p.Tyr205Ter)	1756	DMD	Pathogenic	398124004	RCV000179873; RCV000179872; RCV000080684;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32827644	32827644	NM_004006.2:c.615T>A	NP_003997.1:p.Tyr205Ter	NC_000023.10:g.32827644A>T	HGMD:CM070904	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.583C>T (p.Arg195Ter)	1756	DMD	Pathogenic	398123999	RCV000179875; RCV000179874; RCV000080674;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32827676	32827676	NM_004006.2:c.583C>T	NP_003997.1:p.Arg195Ter	NC_000023.10:g.32827676G>A	HGMD:CM010809	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.565C>T (p.Gln189Ter)	1756	DMD	Pathogenic	794727861	RCV000179864; RCV000179865;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32827694	32827694	NM_004006.2:c.565C>T	NP_003997.1:p.Gln189Ter	NC_000023.10:g.32827694G>A	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.547dupT (p.Trp183Leufs)	1756	DMD	Pathogenic	796065333	RCV000179866; RCV000179867;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32827712	32827712	NM_004006.2:c.547dupT	NP_003997.1:p.Trp183Leufs	NC_000023.10:g.32827712dupA	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.503C>A (p.Ala168Asp)	1756	DMD	Pathogenic	128626236	RCV000011981;	N	MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32834612	32834612	NM_004006.2:c.503C>A	NP_003997.1:p.Ala168Asp	NC_000023.10:g.32834612G>T	OMIM Allelic Variant:300377.0033	C0917713 300376 Becker muscular dystrophy
NM_004006.2(DMD):c.415_428delATTCTCCTGAGCTG (p.Ile139Glyfs)	1756	DMD	Pathogenic	794727795	RCV000179426; RCV000179427;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32834687	32834700	NM_004006.2:c.415_428delATTCTCCTGAGCTG	NP_003997.1:p.Ile139Glyfs	NC_000023.10:g.32834687_32834700delCAGCTCAGGAGAAT	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.412_413delAA (p.Lys138Aspfs)	1756	DMD	Pathogenic	398123949	RCV000179429; RCV000179428; RCV000080603;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32834702	32834703	NM_004006.2:c.412_413delAA	NP_003997.1:p.Lys138Aspfs	NC_000023.10:g.32834702_32834703delTT	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.336G>A (p.Trp112Ter)	1756	DMD	Pathogenic	398123936	RCV000178885; RCV000178884; RCV000080574;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	32841433	32841433	NM_004006.2:c.336G>A	NP_003997.1:p.Trp112Ter	NC_000023.10:g.32841433C>T	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.291dupT (p.Asp98Terfs)	1756	DMD	Pathogenic	797044756	RCV000178886; RCV000178887;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32841478	32841478	NM_004006.2:c.291dupT	NP_003997.1:p.Asp98Terfs	NC_000023.10:g.32841478dupA	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.133C>T (p.Gln45Ter)	1756	DMD	Pathogenic	794727499	RCV000177187; RCV000177188;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	32867898	32867898	NM_004006.2:c.133C>T	NP_003997.1:p.Gln45Ter	NC_000023.10:g.32867898G>A	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.31+1G>T	1756	DMD	Pathogenic	398123923	RCV000173324; RCV000173323; RCV000080542; RCV000183396;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045; MedGen:CN221809	X	33229398	33229398	NM_004006.2:c.31+1G>T		NC_000023.10:g.33229398C>A	HGMD:CS961548	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy; CN221809 not provided
NM_004006.2(DMD):c.28delT (p.Cys10Valfs)	1756	DMD	Pathogenic	398123913	RCV000173321; RCV000173320; RCV000080531;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045	X	33229402	33229402	NM_004006.2:c.28delT	NP_003997.1:p.Cys10Valfs	NC_000023.10:g.33229402delA	-	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.14_15delAAinsT (p.Glu5Valfs)	1756	DMD	Pathogenic	796065325	RCV000173319; RCV000173318;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009	X	33229415	33229416	NM_004006.2:c.14_15delAAinsT	NP_003997.1:p.Glu5Valfs	NC_000023.10:g.33229415_33229416delTTinsA	-	C0917713 300376 Becker muscular dystrophy; C0013264 310200 Duchenne muscular dystrophy
NM_004006.2(DMD):c.9G>A (p.Trp3Ter)	1756	DMD	Pathogenic	398122853	RCV000173322; RCV000022854; RCV000150072; RCV000183395;	N	MedGen:C0013264,OMIM:310200,ORPHA:98896,SNOMED CT:76670001; MedGen:C0917713,OMIM:300376,ORPHA:98895,SNOMED CT:387732009; MedGen:C3668940,OMIM:302045; MedGen:CN221809	X	33229421	33229421	NM_004006.2:c.9G>A	NP_003997.1:p.Trp3Ter	NC_000023.10:g.33229421C>T	HGMD:CM031161,OMIM Allelic Variant:300377.0086	C0917713 300376 Becker muscular dystrophy; C3668940 302045 Dilated cardiomyopathy 3B; C0013264 310200 Duchenne muscular dystrophy; CN221809 not provided