MCID: DMD003
MIFTS: 26

Dmd-Associated Dilated Cardiomyopathy malady

Genetic diseases (common), Cardiovascular diseases, Muscle diseases categories

Aliases & Classifications for Dmd-Associated Dilated Cardiomyopathy

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Aliases & Descriptions for Dmd-Associated Dilated Cardiomyopathy:

Name: Dmd-Associated Dilated Cardiomyopathy 22 23 65
Cardiomyopathy, Dilated, X-Linked 22 47
Dilated Cardiomyopathy 3b 23 24
Dmd-Related Dilated Cardiomyopathy 23
X-Linked Dilated Cardiomyopathy 23
Muscular Dystrophy, Duchenne 65
 
Cardiomyopathy, Dilated, 3b 22
Dmd-Related Dcm 22
Cmd2b 22
Cmd3b 23
Xldc 23
Xlcm 23


Classifications:



Summaries for Dmd-Associated Dilated Cardiomyopathy

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Genetics Home Reference:23 DMD-associated dilated cardiomyopathy is a form of heart disease that is caused by mutations in the DMD gene. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. In males with DMD-associated dilated cardiomyopathy, heart problems usually develop early in life and worsen quickly, leading to heart failure in adolescence or early adulthood. In affected females, the condition appears later in life and worsens more slowly.

MalaCards based summary: Dmd-Associated Dilated Cardiomyopathy, also known as cardiomyopathy, dilated, x-linked, is related to dmd-related dilated cardiomyopathy and dilated cardiomyopathy. An important gene associated with Dmd-Associated Dilated Cardiomyopathy is DMD (Dystrophin), and among its related pathways is Hypertrophic cardiomyopathy (HCM). Affiliated tissues include heart.

Related Diseases for Dmd-Associated Dilated Cardiomyopathy

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Graphical network of the top 20 diseases related to Dmd-Associated Dilated Cardiomyopathy:



Diseases related to dmd-associated dilated cardiomyopathy

Symptoms for Dmd-Associated Dilated Cardiomyopathy

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Drugs & Therapeutics for Dmd-Associated Dilated Cardiomyopathy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Prospective Becker-Heart-StudyRecruitingNCT02020954

Search NIH Clinical Center for Dmd-Associated Dilated Cardiomyopathy

Genetic Tests for Dmd-Associated Dilated Cardiomyopathy

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Genetic tests related to Dmd-Associated Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Dmd-Associated Dilated Cardiomyopathy22 DMD
2 Dilated Cardiomyopathy 3b24

Anatomical Context for Dmd-Associated Dilated Cardiomyopathy

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MalaCards organs/tissues related to Dmd-Associated Dilated Cardiomyopathy:

33
Heart

Animal Models for Dmd-Associated Dilated Cardiomyopathy or affiliated genes

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Publications for Dmd-Associated Dilated Cardiomyopathy

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Variations for Dmd-Associated Dilated Cardiomyopathy

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Clinvar genetic disease variations for Dmd-Associated Dilated Cardiomyopathy:

5 (show all 354)
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.3469G> T (p.Glu1157Ter)single nucleotide variantPathogenicrs128625226GRCh37Chr X, 32472913: 32472913
2DMDNM_004006.2(DMD): c.2791G> T (p.Glu931Ter)single nucleotide variantPathogenicrs128625227GRCh37Chr X, 32503048: 32503048
3DMDNM_004006.2(DMD): c.5551C> T (p.Gln1851Ter)single nucleotide variantPathogenicrs128625228GRCh37Chr X, 32364095: 32364095
4DMDNM_004006.2(DMD): c.8944C> T (p.Arg2982Ter)single nucleotide variantPathogenicrs128625229GRCh37Chr X, 31462738: 31462738
5DMDDMD, IVS68, T-A, +2single nucleotide variantPathogenic
6DMDNM_004006.2(DMD): c.10108C> T (p.Arg3370Ter)single nucleotide variantPathogenicrs104894787GRCh37Chr X, 31196901: 31196901
7DMDDMD, EX73-76DELdeletionPathogenic
8DMDDMD, 1-BP DEL, 10662TdeletionPathogenic
9DMDDMD, 1-BP INS, EX12insertionPathogenic
10DMDDMD, AG-T, EX48undetermined variantPathogenic
11DMDDMD, EX21DELdeletionPathogenic
12DMDDMD, EX18DELdeletionPathogenic
13DMDNM_004006.2(DMD): c.6955C> T (p.Gln2319Ter)single nucleotide variantPathogenicrs128625230GRCh37Chr X, 31893448: 31893448
14DMDNM_004006.2(DMD): c.253C> T (p.Gln85Ter)single nucleotide variantPathogenicrs128626234GRCh37Chr X, 32862911: 32862911
15DMDNM_004006.2(DMD): c.2302C> T (p.Arg768Ter)single nucleotide variantPathogenicrs201366610GRCh37Chr X, 32519950: 32519950
16DMDDMD, 1-BP DEL, 2568CdeletionPathogenic
17DMDNM_004006.2(DMD): c.2314G> T (p.Glu772Ter)single nucleotide variantPathogenicrs267606770GRCh37Chr X, 32519938: 32519938
18DMDNM_004006.2(DMD): c.433C> T (p.Arg145Ter)single nucleotide variantPathogenicrs128626235GRCh37Chr X, 32834682: 32834682
19DMDNM_004006.2(DMD): c.161T> G (p.Leu54Arg)single nucleotide variantPathogenicrs128626231GRCh37Chr X, 32867870: 32867870
20DMDDMD, IVS26, T-G, +2single nucleotide variantPathogenic
21DMDDMD, EX1DELdeletionPathogenic
22DMDDMD, 1-BP DEL, 724CdeletionPathogenic
23DMDNM_004006.2(DMD): c.2017C> T (p.Gln673Ter)single nucleotide variantPathogenicrs128626232GRCh37Chr X, 32563427: 32563427
24DMDDMD, 1-BP DEL, 10334C AND IVS69, G-T, +1deletionPathogenic
25DMDDMD, IVS1, G-T, +1single nucleotide variantPathogenic
26DMDNM_004006.2(DMD): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs128626233GRCh37Chr X, 32867853: 32867853
27DMDDMD, 1-BP INS, 402AinsertionPathogenic
28DMDNM_000109.3(DMD): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs128626238GRCh37Chr X, 32717336: 32717336
29DMDNM_004006.2(DMD): c.748G> T (p.Glu250Ter)single nucleotide variantPathogenicrs128626239GRCh37Chr X, 32717312: 32717312
30DMDDMD, 11-BP DEL, NT989deletionPathogenic
31DMDDMD, 1-BP INS, NT1554insertionPathogenic
32DMDNM_004006.2(DMD): c.1489C> T (p.Gln497Ter)single nucleotide variantPathogenicrs128626241GRCh37Chr X, 32613987: 32613987
33DMDNM_004006.2(DMD): c.1952G> A (p.Trp651Ter)single nucleotide variantPathogenicrs128626242GRCh37Chr X, 32583859: 32583859
34DMDNM_004006.2(DMD): c.2308A> T (p.Lys770Ter)single nucleotide variantPathogenicrs128626243GRCh37Chr X, 32519944: 32519944
35DMDNM_004006.2(DMD): c.2317A> G (p.Lys773Glu)single nucleotide variantPathogenicrs128626244GRCh37Chr X, 32519935: 32519935
36DMDDMD, 52-BP DELdeletionPathogenic
37DMDDMD, 1-BP INS, NT2928insertionPathogenic
38DMDNM_004006.2(DMD): c.3121C> T (p.Gln1041Ter)single nucleotide variantPathogenicrs128626245GRCh37Chr X, 32486656: 32486656
39DMDNM_004006.2(DMD): c.3188G> A (p.Trp1063Ter)single nucleotide variantPathogenicrs128626246GRCh37Chr X, 32482791: 32482791
40DMDNM_004006.2(DMD): c.4213C> T (p.Gln1405Ter)single nucleotide variantPathogenicrs128626247GRCh37Chr X, 32429889: 32429889
41DMDNM_004006.2(DMD): c.4414C> T (p.Gln1472Ter)single nucleotide variantPathogenicrs128626248GRCh37Chr X, 32407722: 32407722
42DMDNM_004006.2(DMD): c.5899C> T (p.Arg1967Ter)single nucleotide variantPathogenicrs128626249GRCh37Chr X, 32360240: 32360240
43DMDDMD, 1-BP DEL, 6408CdeletionPathogenic
44DMDNM_004006.2(DMD): c.6292C> T (p.Arg2098Ter)single nucleotide variantPathogenicrs128626250GRCh37Chr X, 32235179: 32235179
45DMDNM_004006.2(DMD): c.6373C> T (p.Gln2125Ter)single nucleotide variantPathogenicrs128626251GRCh37Chr X, 32235098: 32235098
46DMDDMD, 17-BP DEL, NT6982deletionPathogenic
47DMDNM_004006.2(DMD): c.6790C> T (p.Gln2264Ter)single nucleotide variantPathogenicrs128626252GRCh37Chr X, 31947835: 31947835
48DMDDMD, 1-BP INS, 7188AinsertionPathogenic
49DMDDMD, IVS47, G-A, +1, EX48DELdeletionPathogenic
50DMDNM_004006.2(DMD): c.7402G> T (p.Glu2468Ter)single nucleotide variantPathogenicrs128626253GRCh37Chr X, 31792217: 31792217
51DMDNM_004006.2(DMD): c.8729A> T (p.Glu2910Val)single nucleotide variantPathogenicrs41305353GRCh37Chr X, 31496431: 31496431
52DMDNM_004006.2(DMD): c.8734A> G (p.Asn2912Asp)single nucleotide variantPathogenicrs1800278GRCh37Chr X, 31496426: 31496426
53DMDNM_004006.2(DMD): c.9197C> A (p.Ser3066Ter)single nucleotide variantPathogenicrs128626254GRCh37Chr X, 31341742: 31341742
54DMDDMD, 4-BP DEL, NT9679deletionPathogenic
55DMDDMD, IVS65, G-A, +1single nucleotide variantPathogenic
56DMDNM_004006.2(DMD): c.10141C> T (p.Arg3381Ter)single nucleotide variantPathogenicrs104894790GRCh37Chr X, 31196868: 31196868
57DMDDMD, IVS70, G-T, +5single nucleotide variantPathogenic
58DMDDMD, 8-BP DEL, 1-BP INS, NT10692indelPathogenic
59DMDNM_004006.2(DMD): c.835A> G (p.Thr279Ala)single nucleotide variantPathogenicrs128627255GRCh37Chr X, 32716112: 32716112
60DMDDMD, ALU INSinsertionPathogenic
61DMDNM_004006.2(DMD): c.9568C> T (p.Arg3190Ter)single nucleotide variantPathogenicrs104894797GRCh37Chr X, 31224780: 31224780
62DMDNM_004006.2(DMD): c.3940C> T (p.Arg1314Ter)single nucleotide variantPathogenicrs5030730GRCh37Chr X, 32456489: 32456489
63DMDDMD, 1-BP DEL, 377AdeletionPathogenic
64DMDDMD, 16-BP DELdeletionPathogenic
65DMDNM_004006.2(DMD): c.8713C> T (p.Arg2905Ter)single nucleotide variantPathogenicrs128627256GRCh37Chr X, 31496447: 31496447
66DMDNM_004006.2(DMD): c.5985T> G (p.Tyr1995Ter)single nucleotide variantPathogenicrs128627257GRCh37Chr X, 32328331: 32328331
67DMDNM_004006.2(DMD): c.1812+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs373286166GRCh37Chr X, 32591646: 32591646
68DMDNM_004006.2(DMD): c.9164-1G> Csingle nucleotide variantPathogenicrs398124082GRCh37Chr X, 31341776: 31341776
69DMDNM_004006.2(DMD): c.8680G> T (p.Glu2894Ter)single nucleotide variantPathogenicrs727503802GRCh37Chr X, 31496480: 31496480
70DMDNM_004006.2(DMD): c.5363C> G (p.Ser1788Ter)single nucleotide variantPathogenicrs199774535GRCh37Chr X, 32366608: 32366608
71DMDNM_004006.2(DMD): c.4806A> T (p.Gly1602=)single nucleotide variantPathogenicrs727503830GRCh37Chr X, 32398666: 32398666
72DMDNM_004006.2(DMD): c.3532G> T (p.Glu1178Ter)single nucleotide variantPathogenicrs727503836GRCh37Chr X, 32472850: 32472850
73DMDNM_004006.2(DMD): c.2956C> T (p.Gln986Ter)single nucleotide variantPathogenicrs727503844GRCh37Chr X, 32486821: 32486821
74DMDNM_004006.2(DMD): c.2755A> T (p.Lys919Ter)single nucleotide variantPathogenicrs727503850GRCh37Chr X, 32503084: 32503084
75DMDNM_004006.2(DMD): c.2484T> G (p.Tyr828Ter)single nucleotide variantPathogenicrs727503858GRCh37Chr X, 32509532: 32509532
76DMDNM_004006.2(DMD): c.883C> T (p.Arg295Ter)single nucleotide variantPathogenicrs727503864GRCh37Chr X, 32716064: 32716064
77DMDNM_004006.2(DMD): c.14_15delAAinsT (p.Glu5Valfs)indelPathogenicrs796065325GRCh37Chr X, 33229415: 33229416
78DMDNM_004006.2(DMD): c.1093C> T (p.Gln365Ter)single nucleotide variantPathogenicrs794726993GRCh37Chr X, 32663137: 32663137
79DMDNM_004006.2(DMD): c.1070delC (p.Ser357Leufs)deletionPathogenicrs794726994GRCh37Chr X, 32663160: 32663160
80DMDNM_004006.2(DMD): c.1286C> G (p.Ser429Ter)single nucleotide variantPathogenicrs398123853GRCh37Chr X, 32662294: 32662294
81DMDNM_004006.2(DMD): c.1150-2A> Gsingle nucleotide variantPathogenicrs794727030GRCh37Chr X, 32662432: 32662432
82DMDNM_004006.2(DMD): c.1533_1536delTCAC (p.His512Trpfs)deletionPathogenicrs794727097GRCh37Chr X, 32613940: 32613943
83DMDNM_004006.2(DMD): c.1704+1G> Asingle nucleotide variantPathogenicrs794727123GRCh37Chr X, 32591861: 32591861
84DMDNM_004006.2(DMD): c.1912C> T (p.Gln638Ter)single nucleotide variantPathogenicrs794727170GRCh37Chr X, 32583899: 32583899
85DMDNM_004006.2(DMD): c.2601_2602delAA (p.Gln869Valfs)deletionPathogenicrs794727322GRCh37Chr X, 32509414: 32509415
86DMDNM_004006.2(DMD): c.2479G> T (p.Glu827Ter)single nucleotide variantPathogenicrs794727323GRCh37Chr X, 32509537: 32509537
87DMDNM_004006.2(DMD): c.2803+1G> Csingle nucleotide variantPathogenicrs398123908GRCh37Chr X, 32503035: 32503035
88DMDNM_004006.2(DMD): c.2804-2A> Tsingle nucleotide variantPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
89DMDNM_004006.2(DMD): c.2815_2816delTT (p.Leu939Alafs)deletionPathogenicrs794727358GRCh38Chr X, 32472297: 32472298
90DMDNM_004006.2(DMD): c.2933_2934delGA (p.Arg978Thrfs)deletionPathogenicrs794727359GRCh37Chr X, 32490296: 32490297
91DMDNM_004006.2(DMD): c.3497_3500delTATC (p.Leu1166Glnfs)deletionPathogenicrs794727421GRCh37Chr X, 32472882: 32472885
92DMDNM_004006.2(DMD): c.3535G> T (p.Glu1179Ter)single nucleotide variantPathogenicrs794727422GRCh37Chr X, 32472847: 32472847
93DMDNM_004006.2(DMD): c.3838A> T (p.Lys1280Ter)single nucleotide variantPathogenicrs794727463GRCh37Chr X, 32459380: 32459380
94DMDNM_004006.2(DMD): c.133C> T (p.Gln45Ter)single nucleotide variantPathogenicrs794727499GRCh37Chr X, 32867898: 32867898
95DMDNM_004006.2(DMD): c.4315A> T (p.Arg1439Ter)single nucleotide variantPathogenicrs794727550GRCh37Chr X, 32408217: 32408217
96DMDNM_004006.2(DMD): c.4523delT (p.Leu1508Cysfs)deletionPathogenicrs794727567GRCh37Chr X, 32404578: 32404578
97DMDNM_004006.2(DMD): c.4675-2A> Gsingle nucleotide variantPathogenicrs794727575GRCh37Chr X, 32398799: 32398799
98DMDNM_004006.2(DMD): c.5697delA (p.Lys1899Asnfs)deletionPathogenicrs794727661GRCh38Chr X, 32343176: 32343176
99DMDNM_004006.2(DMD): c.5868G> A (p.Trp1956Ter)single nucleotide variantPathogenicrs794727666GRCh38Chr X, 32342154: 32342154
100DMDNM_004006.2(DMD): c.6238delC (p.Gln2080Serfs)deletionPathogenicrs794727672GRCh37Chr X, 32305698: 32305698
101DMDNM_004006.2(DMD): c.6673_6674insGTTT (p.Leu2225Cysfs)insertionPathogenicrs797044743GRCh37Chr X, 31950285: 31950286
102DMDNM_004006.2(DMD): c.6982A> T (p.Lys2328Ter)single nucleotide variantPathogenicrs754896795GRCh38Chr X, 31875304: 31875304
103DMDNM_004006.2(DMD): c.291dupT (p.Asp98Terfs)duplicationPathogenicrs797044756GRCh38Chr X, 32823361: 32823361
104DMDNM_004006.2(DMD): c.7247dupT (p.Leu2416Phefs)duplicationPathogenicrs797044764GRCh37Chr X, 31838154: 31838154
105DMDNM_004006.2(DMD): c.7295_7296delCC (p.Thr2432Asnfs)deletionPathogenicrs794727746GRCh37Chr X, 31838105: 31838106
106DMDNM_004006.2(DMD): c.7444delC (p.Thr2483Profs)deletionPathogenicrs794727749GRCh37Chr X, 31792175: 31792175
107DMDNM_004006.2(DMD): c.8184delC (p.Lys2729Argfs)deletionPathogenicrs794727763GRCh37Chr X, 31645823: 31645823
108DMDNM_004006.2(DMD): c.8656C> T (p.Gln2886Ter)single nucleotide variantPathogenicrs201361100GRCh37Chr X, 31497112: 31497112
109DMDNM_004006.2(DMD): c.8669-2A> Csingle nucleotide variantPathogenicrs794727770GRCh37Chr X, 31496493: 31496493
110DMDNM_004006.2(DMD): c.415_428delATTCTCCTGAGCTG (p.Ile139Glyfs)deletionPathogenicrs794727795GRCh37Chr X, 32834687: 32834700
111DMDNM_004006.2(DMD): c.9216C> G (p.Tyr3072Ter)single nucleotide variantPathogenicrs794727820GRCh37Chr X, 31341723: 31341723
112DMDNM_004006.2(DMD): c.9978C> G (p.Tyr3326Ter)single nucleotide variantPathogenicrs794727832GRCh37Chr X, 31198595: 31198595
113DMDNM_004006.2(DMD): c.565C> T (p.Gln189Ter)single nucleotide variantPathogenicrs794727861GRCh37Chr X, 32827694: 32827694
114DMDNM_004006.2(DMD): c.547dupT (p.Trp183Leufs)duplicationPathogenicrs796065333GRCh38Chr X, 32809595: 32809595
115DMDNM_004006.2(DMD): c.627delA (p.Ile209Metfs)deletionPathogenicrs794727862GRCh37Chr X, 32827632: 32827632
116DMDNM_004006.2(DMD): c.572C> G (p.Ser191Ter)single nucleotide variantPathogenicrs794727863GRCh37Chr X, 32827687: 32827687
117DMDNM_004006.2(DMD): c.10554-2A> Gsingle nucleotide variantPathogenicrs794727890GRCh37Chr X, 31165637: 31165637
118DMDNM_004006.2(DMD): c.10133delA (p.Asn3378Thrfs)deletionPathogenicGRCh37Chr X, 31196876: 31196876
119DMDNM_004006.2(DMD): c.10223+1G> Csingle nucleotide variantPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
120DMDNM_004006.2(DMD): c.10412T> G (p.Leu3471Ter)single nucleotide variantPathogenicGRCh38Chr X, 31169584: 31169584
121DMDNM_004006.2(DMD): c.10504G> T (p.Glu3502Ter)single nucleotide variantPathogenicGRCh37Chr X, 31187609: 31187609
122DMDNM_004006.2(DMD): c.1150-2deldeletionPathogenicGRCh38Chr X, 32644315: 32644315
123DMDNM_004006.2(DMD): c.1324C> T (p.Gln442Ter)single nucleotide variantPathogenicGRCh38Chr X, 32644139: 32644139
124DMDNM_004006.2(DMD): c.1331+1G> Asingle nucleotide variantPathogenicGRCh38Chr X, 32644131: 32644131
125DMDNM_004006.2(DMD): c.1388G> A (p.Trp463Ter)single nucleotide variantPathogenicGRCh38Chr X, 32614397: 32614397
126DMDNM_004006.2(DMD): c.1483-1G> Csingle nucleotide variantPathogenicGRCh37Chr X, 32613994: 32613994
127DMDNM_004006.2(DMD): c.1663C> T (p.Gln555Ter)single nucleotide variantPathogenicGRCh38Chr X, 32573786: 32573786
128DMDNM_004006.2(DMD): c.1683G> A (p.Trp561Ter)single nucleotide variantPathogenicGRCh37Chr X, 32591883: 32591883
129DMDNM_004006.2(DMD): c.2215G> T (p.Glu739Ter)single nucleotide variantPathogenicGRCh38Chr X, 32518085: 32518085
130DMDNM_004006.2(DMD): c.2368C> T (p.Gln790Ter)single nucleotide variantPathogenicrs762860653GRCh38Chr X, 32501767: 32501767
131DMDNM_004006.2(DMD): c.2407C> T (p.Gln803Ter)single nucleotide variantPathogenicGRCh38Chr X, 32491492: 32491492
132DMDNM_004006.2(DMD): c.2611A> T (p.Lys871Ter)single nucleotide variantPathogenicGRCh38Chr X, 32491288: 32491288
133DMDNM_004006.2(DMD): c.2623-3C> Gsingle nucleotide variantPathogenicGRCh37Chr X, 32503219: 32503219
134DMDNM_004006.2(DMD): c.265-2A> Gsingle nucleotide variantPathogenicGRCh38Chr X, 32823389: 32823389
135DMDNM_004006.2(DMD): c.2797C> T (p.Gln933Ter)single nucleotide variantPathogenicrs756949497GRCh38Chr X, 32484925: 32484925
136DMDNM_004006.2(DMD): c.280delA (p.Ile94Leufs)deletionPathogenicGRCh37Chr X, 32841489: 32841489
137DMDNM_004006.2(DMD): c.2804-2A> Csingle nucleotide variantPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
138DMDNM_004006.2(DMD): c.282dupT (p.Gly95Trpfs)duplicationPathogenicGRCh38Chr X, 32823370: 32823370
139DMDNM_004006.2(DMD): c.2991C> G (p.Tyr997Ter)single nucleotide variantPathogenicGRCh38Chr X, 32468669: 32468669
140DMDNM_004006.2(DMD): c.3427C> T (p.Gln1143Ter)single nucleotide variantPathogenicGRCh37Chr X, 32481561: 32481561
141DMDNM_004006.2(DMD): c.3433-5_3434deldeletionPathogenicGRCh38Chr X, 32454831: 32454837
142DMDNM_004006.2(DMD): c.355C> T (p.Gln119Ter)single nucleotide variantPathogenicGRCh38Chr X, 32823297: 32823297
143DMDNM_004006.2(DMD): c.358-2A> Gsingle nucleotide variantPathogenicGRCh38Chr X, 32816642: 32816642
144DMDNM_004006.2(DMD): c.4240C> T (p.Gln1414Ter)single nucleotide variantPathogenicGRCh37Chr X, 32408292: 32408292
145DMDNM_004006.2(DMD): c.4606G> T (p.Glu1536Ter)single nucleotide variantPathogenicGRCh37Chr X, 32404495: 32404495
146DMDNM_004006.2(DMD): c.4729C> T (p.Arg1577Ter)single nucleotide variantPathogenicGRCh37Chr X, 32398743: 32398743
147DMDNM_004006.2(DMD): c.4918delA (p.Thr1640Glnfs)deletionPathogenicGRCh37Chr X, 32383244: 32383244
148DMDNM_004006.2(DMD): c.5131C> T (p.Gln1711Ter)single nucleotide variantPathogenicGRCh38Chr X, 32364605: 32364605
149DMDNM_004006.2(DMD): c.5350G> T (p.Glu1784Ter)single nucleotide variantPathogenicrs777864641GRCh38Chr X, 32348504: 32348504
150DMDNM_004006.2(DMD): c.5461G> T (p.Glu1821Ter)single nucleotide variantPathogenicGRCh38Chr X, 32346068: 32346068
151DMDNM_004006.2(DMD): c.5602_5605delAGAA (p.Arg1868Glufs)deletionPathogenicGRCh38Chr X, 32343268: 32343271
152DMDNM_004006.2(DMD): c.5641C> T (p.Gln1881Ter)single nucleotide variantPathogenicGRCh38Chr X, 32343232: 32343232
153DMDNM_004006.2(DMD): c.5917C> T (p.Gln1973Ter)single nucleotide variantPathogenicGRCh37Chr X, 32360222: 32360222
154DMDNM_004006.2(DMD): c.6128_6131delATAG (p.Asp2043Valfs)deletionPathogenicGRCh38Chr X, 32287688: 32287691
155DMDNM_004006.2(DMD): c.6611dupA (p.Arg2205Glufs)duplicationPathogenicGRCh38Chr X, 31968342: 31968342
156DMDNM_004006.2(DMD): c.7105G> T (p.Glu2369Ter)single nucleotide variantPathogenicGRCh38Chr X, 31836813: 31836813
157DMDNM_004006.2(DMD): c.7755G> A (p.Trp2585Ter)single nucleotide variantPathogenicrs762394978GRCh38Chr X, 31679492: 31679492
158DMDNM_004006.2(DMD): c.7817G> A (p.Trp2606Ter)single nucleotide variantPathogenicGRCh38Chr X, 31679430: 31679430
159DMDNM_004006.2(DMD): c.8027+2T> Asingle nucleotide variantPathogenicGRCh38Chr X, 31657988: 31657988
160DMDNM_004006.2(DMD): c.8038C> T (p.Arg2680Ter)single nucleotide variantPathogenicGRCh37Chr X, 31645969: 31645969
161DMDNM_004006.2(DMD): c.8357G> A (p.Trp2786Ter)single nucleotide variantPathogenicGRCh38Chr X, 31507314: 31507314
162DMDNM_004006.2(DMD): c.8390+2T> Csingle nucleotide variantPathogenicGRCh38Chr X, 31507279: 31507279
163DMDNM_004006.2(DMD): c.8970_8971delGA (p.Asn2991Argfs)deletionPathogenicGRCh38Chr X, 31444594: 31444595
164DMDNM_004006.2(DMD): c.9204_9207delCAAA (p.Asn3068Lysfs)deletionPathogenicGRCh38Chr X, 31323615: 31323618
165DMDNM_004006.2(DMD): c.94-1G> Asingle nucleotide variantPathogenicGRCh37Chr X, 32867938: 32867938
166DMDNM_004006.2(DMD): c.9551dupA (p.Asn3184Lysfs)duplicationPathogenicGRCh37Chr X, 31227627: 31227627
167DMDNM_004006.2(DMD): c.9938_9941dupGTAA (p.Asn3314Lysfs)duplicationPathogenicGRCh37Chr X, 31200888: 31200891
168DMDNM_004006.2(DMD): c.9G> A (p.Trp3Ter)single nucleotide variantPathogenicrs398122853GRCh37Chr X, 33229421: 33229421
169DMDNM_004006.2(DMD): c.10033C> T (p.Arg3345Ter)single nucleotide variantPathogenicrs398123827GRCh37Chr X, 31198540: 31198540
170DMDNM_004006.2(DMD): c.10086+1G> Asingle nucleotide variantPathogenicrs398123828GRCh37Chr X, 31198486: 31198486
171DMDNM_004006.2(DMD): c.1012G> T (p.Glu338Ter)single nucleotide variantPathogenicrs398123830GRCh37Chr X, 32663218: 32663218
172DMDNM_004006.2(DMD): c.10167delT (p.Arg3391Glufs)deletionPathogenicrs398123831GRCh37Chr X, 31196842: 31196842
173DMDNM_004006.2(DMD): c.10171C> T (p.Arg3391Ter)single nucleotide variantPathogenicrs398123832GRCh37Chr X, 31196838: 31196838
174DMDNM_004006.2(DMD): c.10192C> T (p.Gln3398Ter)single nucleotide variantPathogenicrs398123833GRCh37Chr X, 31196817: 31196817
175DMDNM_004019.2(DMD): c.1020G> A (p.Thr340=)single nucleotide variantPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
176DMDNM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs)duplicationPathogenicrs398123835GRCh37Chr X, 31196053: 31196053
177DMDNM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs)deletionPathogenicrs398123837GRCh37Chr X, 31187666: 31187667
178DMDNM_004006.2(DMD): c.10453_10454delCT (p.Leu3485Glufs)deletionPathogenicrs398123838GRCh37Chr X, 31187659: 31187660
179DMDNM_004006.2(DMD): c.10454delT (p.Leu3485Argfs)deletionPathogenicrs398123839GRCh37Chr X, 31187659: 31187659
180DMDNM_004006.2(DMD): c.1048G> T (p.Glu350Ter)single nucleotide variantPathogenicrs398123840GRCh37Chr X, 32663182: 32663182
181DMDNM_004006.2(DMD): c.10602dupA (p.Gly3535Argfs)duplicationPathogenicrs398123842GRCh37Chr X, 31165587: 31165587
182DMDNM_004006.2(DMD): c.10625delC (p.Pro3542Leufs)deletionPathogenicrs398123844GRCh37Chr X, 31165564: 31165564
183DMDNM_004006.2(DMD): c.10774delA (p.Arg3592Glyfs)deletionPathogenicrs398123845GRCh37Chr X, 31165415: 31165415
184DMDNM_004006.2(DMD): c.1261C> T (p.Gln421Ter)single nucleotide variantPathogenicrs398123852GRCh37Chr X, 32662319: 32662319
185DMDNM_004006.2(DMD): c.1286C> A (p.Ser429Ter)single nucleotide variantPathogenicrs398123853GRCh37Chr X, 32662294: 32662294
186DMDNM_004006.2(DMD): c.1306dupG (p.Val436Glyfs)duplicationPathogenicrs398123854GRCh37Chr X, 32662274: 32662274
187DMDNM_004006.2(DMD): c.1332-9A> Gsingle nucleotide variantPathogenicrs72468700GRCh37Chr X, 32632579: 32632579
188DMDNM_004006.2(DMD): c.1341_1342dupAG (p.Val448Glufs)duplicationPathogenicrs398123856GRCh37Chr X, 32632560: 32632561
189DMDNM_004006.2(DMD): c.1371delG (p.Glu459Serfs)deletionPathogenicrs398123857GRCh37Chr X, 32632531: 32632531
190DMDNM_004006.2(DMD): c.137A> T (p.Asp46Val)single nucleotide variantPathogenicrs398123858GRCh37Chr X, 32867894: 32867894
191DMDNM_004006.2(DMD): c.137_138dupAT (p.Gly47Metfs)duplicationPathogenicrs398123859GRCh37Chr X, 32867893: 32867894
192DMDNM_004006.2(DMD): c.1465C> T (p.Gln489Ter)single nucleotide variantPathogenicrs398123861GRCh37Chr X, 32632437: 32632437
193DMDNM_004006.2(DMD): c.1482+1G> Tsingle nucleotide variantPathogenicrs398123862GRCh37Chr X, 32632419: 32632419
194DMDNM_004006.2(DMD): c.1529_1530delTC (p.Leu510Hisfs)deletionPathogenicrs398123863GRCh37Chr X, 32613946: 32613947
195DMDNM_004006.2(DMD): c.160_162delCTC (p.Leu54del)deletionPathogenicrs398123864GRCh37Chr X, 32867869: 32867871
196DMDNM_004006.2(DMD): c.1615C> T (p.Arg539Ter)single nucleotide variantPathogenicrs398123865GRCh37Chr X, 32591951: 32591951
197DMDNM_004006.2(DMD): c.1734delA (p.Glu579Lysfs)deletionPathogenicrs398123866GRCh37Chr X, 32591725: 32591725
198DMDNM_004006.2(DMD): c.1886C> A (p.Ser629Ter)single nucleotide variantPathogenicrs398123867GRCh37Chr X, 32583925: 32583925
199DMDNM_004006.2(DMD): c.1900A> T (p.Lys634Ter)single nucleotide variantPathogenicrs398123868GRCh37Chr X, 32583911: 32583911
200DMDNM_004006.2(DMD): c.1900_1903dupAAGT (p.Ser635Terfs)duplicationPathogenicrs398123869GRCh37Chr X, 32583908: 32583911
201DMDNM_004006.2(DMD): c.1990C> T (p.Gln664Ter)single nucleotide variantPathogenicrs398123870GRCh37Chr X, 32583821: 32583821
202DMDNM_004006.2(DMD): c.199G> T (p.Gly67Ter)single nucleotide variantPathogenicrs398123871GRCh37Chr X, 32862965: 32862965
203DMDNM_004006.2(DMD): c.2032C> T (p.Gln678Ter)single nucleotide variantPathogenicrs398123872GRCh37Chr X, 32563412: 32563412
204DMDNM_004006.2(DMD): c.2032_2033delCA (p.Gln678Aspfs)deletionPathogenicrs398123873GRCh37Chr X, 32563411: 32563412
205DMDNM_004006.2(DMD): c.204dupC (p.Thr69Hisfs)duplicationPathogenicrs398123874GRCh37Chr X, 32862960: 32862960
206DMDNM_004006.2(DMD): c.2125delC (p.Gln709Lysfs)deletionPathogenicrs398123875GRCh37Chr X, 32563319: 32563319
207DMDNM_004006.2(DMD): c.2137C> T (p.Gln713Ter)single nucleotide variantPathogenicrs398123876GRCh37Chr X, 32563307: 32563307
208DMDNM_004006.2(DMD): c.2169-3_2169-1delinsAAindelPathogenicrs398123877GRCh37Chr X, 32536249: 32536251
209DMDNM_004006.2(DMD): c.220delC (p.Leu74Terfs)deletionPathogenicrs398123880GRCh37Chr X, 32862944: 32862944
210DMDNM_004006.2(DMD): c.2281_2285delGAAAA (p.Glu761Serfs)deletionPathogenicrs398123881GRCh37Chr X, 32536132: 32536136
211DMDNM_004006.2(DMD): c.2294_2297delCCAT (p.Ala765Glufs)deletionPathogenicrs398123882GRCh37Chr X, 32519955: 32519958
212DMDNM_004006.2(DMD): c.2332C> T (p.Gln778Ter)single nucleotide variantPathogenicrs398123883GRCh37Chr X, 32519920: 32519920
213DMDNM_004006.2(DMD): c.2380+1G> Csingle nucleotide variantPathogenicrs398123884GRCh37Chr X, 32519871: 32519871
214DMDNM_004006.2(DMD): c.2380+2T> Csingle nucleotide variantPathogenicrs398123885GRCh37Chr X, 32519870: 32519870
215DMDNM_004006.2(DMD): c.2381-1G> Tsingle nucleotide variantPathogenicrs398123887GRCh37Chr X, 32509636: 32509636
216DMDNM_004006.2(DMD): c.2419C> T (p.Gln807Ter)single nucleotide variantPathogenicrs398123888GRCh37Chr X, 32509597: 32509597
217DMDNM_004006.2(DMD): c.2436G> A (p.Trp812Ter)single nucleotide variantPathogenicrs398123889GRCh37Chr X, 32509580: 32509580
218DMDNM_004006.2(DMD): c.2479delG (p.Glu827Serfs)deletionPathogenicrs398123890GRCh38Chr X, 32491420: 32491420
219DMDNM_004006.2(DMD): c.2482T> G (p.Tyr828Asp)single nucleotide variantPathogenicrs398123891GRCh37Chr X, 32509534: 32509534
220DMDNM_004006.2(DMD): c.251delT (p.Leu84Cysfs)deletionPathogenicrs398123893GRCh37Chr X, 32862913: 32862913
221DMDNM_004006.2(DMD): c.2523delA (p.Gln841Hisfs)deletionPathogenicrs398123894GRCh37Chr X, 32509493: 32509493
222DMDNM_004006.2(DMD): c.2547delT (p.Glu850Lysfs)deletionPathogenicrs398123895GRCh37Chr X, 32509469: 32509469
223DMDNM_004006.2(DMD): c.2622+1G> Asingle nucleotide variantPathogenicrs398123901GRCh37Chr X, 32509393: 32509393
224DMDNM_004006.2(DMD): c.2650C> T (p.Gln884Ter)single nucleotide variantPathogenicrs398123903GRCh37Chr X, 32503189: 32503189
225DMDNM_004006.2(DMD): c.2758C> T (p.Gln920Ter)single nucleotide variantPathogenicrs398123905GRCh37Chr X, 32503081: 32503081
226DMDNM_004006.2(DMD): c.2803+1G> Asingle nucleotide variantPathogenicrs398123908GRCh37Chr X, 32503035: 32503035
227DMDNM_004006.2(DMD): c.2803+1G> Tsingle nucleotide variantPathogenicrs398123908GRCh37Chr X, 32503035: 32503035
228DMDNM_004006.2(DMD): c.2804-1G> Asingle nucleotide variantPathogenicrs398123909GRCh37Chr X, 32490427: 32490427
229DMDNM_004006.2(DMD): c.2816T> A (p.Leu939Ter)single nucleotide variantPathogenicrs398123910GRCh37Chr X, 32490414: 32490414
230DMDNM_004006.2(DMD): c.2866C> T (p.Gln956Ter)single nucleotide variantPathogenicrs398123912GRCh37Chr X, 32490364: 32490364
231DMDNM_004006.2(DMD): c.28delT (p.Cys10Valfs)deletionPathogenicrs398123913GRCh37Chr X, 33229402: 33229402
232DMDNM_004006.2(DMD): c.2929dupC (p.Gln977Profs)duplicationPathogenicrs398123914GRCh37Chr X, 32490301: 32490301
233DMDNM_004006.2(DMD): c.2954T> A (p.Leu985Ter)single nucleotide variantPathogenicrs398123916GRCh37Chr X, 32486823: 32486823
234DMDNM_004006.2(DMD): c.2977C> T (p.Gln993Ter)single nucleotide variantPathogenicrs398123917GRCh37Chr X, 32486800: 32486800
235DMDNM_004006.2(DMD): c.3022A> T (p.Lys1008Ter)single nucleotide variantPathogenicrs398123918GRCh37Chr X, 32486755: 32486755
236DMDNM_004006.2(DMD): c.3059C> G (p.Ser1020Ter)single nucleotide variantPathogenicrs398123919GRCh37Chr X, 32486718: 32486718
237DMDNM_004006.2(DMD): c.3076G> T (p.Glu1026Ter)single nucleotide variantPathogenicrs398123920GRCh37Chr X, 32486701: 32486701
238DMDNM_004006.2(DMD): c.3087G> A (p.Trp1029Ter)single nucleotide variantPathogenicrs398123921GRCh37Chr X, 32486690: 32486690
239DMDNM_004006.2(DMD): c.31+1G> Tsingle nucleotide variantPathogenicrs398123923GRCh37Chr X, 33229398: 33229398
240DMDNM_004006.2(DMD): c.3124A> T (p.Lys1042Ter)single nucleotide variantPathogenicrs398123927GRCh37Chr X, 32486653: 32486653
241DMDNM_004006.2(DMD): c.3151C> T (p.Arg1051Ter)single nucleotide variantPathogenicrs398123929GRCh37Chr X, 32486626: 32486626
242DMDNM_004006.2(DMD): c.32-2A> Tsingle nucleotide variantPathogenicrs398123930GRCh37Chr X, 33038319: 33038319
243DMDNM_004006.2(DMD): c.3246_3247insTTTCTAAAAA (p.Ile1083Phefs)insertionPathogenicrs398123932GRCh37Chr X, 32482732: 32482733
244DMDNM_004006.2(DMD): c.3276+1G> Asingle nucleotide variantPathogenicrs398123934GRCh37Chr X, 32482702: 32482702
245DMDNM_004006.2(DMD): c.3295C> T (p.Gln1099Ter)single nucleotide variantPathogenicrs398123935GRCh37Chr X, 32481693: 32481693
246DMDNM_004006.2(DMD): c.336G> A (p.Trp112Ter)single nucleotide variantPathogenicrs398123936GRCh37Chr X, 32841433: 32841433
247DMDNM_004006.2(DMD): c.3432+1G> Asingle nucleotide variantPathogenicrs398123937GRCh37Chr X, 32481555: 32481555
248DMDNM_004006.2(DMD): c.3432+3A> Gsingle nucleotide variantPathogenicrs398123938GRCh37Chr X, 32481553: 32481553
249DMDNM_004006.2(DMD): c.3433-1G> Asingle nucleotide variantPathogenicrs398123939GRCh37Chr X, 32472950: 32472950
250DMDNM_004006.2(DMD): c.3502G> T (p.Glu1168Ter)single nucleotide variantPathogenicrs398123941GRCh37Chr X, 32472880: 32472880
251DMDNM_004006.2(DMD): c.3580C> T (p.Gln1194Ter)single nucleotide variantPathogenicrs398123942GRCh37Chr X, 32472802: 32472802
252DMDNM_004006.2(DMD): c.3603+2T> Asingle nucleotide variantPathogenicrs146071084GRCh37Chr X, 32472777: 32472777
253DMDNM_004006.2(DMD): c.3639dupA (p.Val1214Serfs)duplicationPathogenicrs398123943GRCh37Chr X, 32466720: 32466720
254DMDNM_004006.2(DMD): c.3697delC (p.Gln1233Lysfs)deletionPathogenicrs398123944GRCh37Chr X, 32466662: 32466662
255DMDNM_004006.2(DMD): c.3747delG (p.Trp1249Cysfs)deletionPathogenicrs398123945GRCh37Chr X, 32466612: 32466612
256DMDNM_004006.2(DMD): c.3779_3785delCTTTGGAinsGG (p.Thr1260Argfs)indelPathogenicrs398123946GRCh37Chr X, 32466574: 32466580
257DMDNM_004006.2(DMD): c.4071G> C (p.Glu1357Asp)single nucleotide variantPathogenicrs398123947GRCh37Chr X, 32456358: 32456358
258DMDNM_004006.2(DMD): c.4117C> T (p.Gln1373Ter)single nucleotide variantPathogenicrs398123948GRCh37Chr X, 32429985: 32429985
259DMDNM_004006.2(DMD): c.412_413delAA (p.Lys138Aspfs)deletionPathogenicrs398123949GRCh37Chr X, 32834702: 32834703
260DMDNM_004006.2(DMD): c.4314_4315delAA (p.Arg1439Serfs)deletionPathogenicrs398123950GRCh37Chr X, 32408217: 32408218
261DMDNM_004006.2(DMD): c.4375C> T (p.Arg1459Ter)single nucleotide variantPathogenicrs398123953GRCh37Chr X, 32407761: 32407761
262DMDNM_004006.2(DMD): c.4405C> T (p.Gln1469Ter)single nucleotide variantPathogenicrs398123954GRCh37Chr X, 32407731: 32407731
263DMDNM_004006.2(DMD): c.4409_4412dupGTCT (p.Gln1472Serfs)duplicationPathogenicrs398123955GRCh37Chr X, 32407724: 32407727
264DMDNM_004006.2(DMD): c.4471_4472delAA (p.Lys1491Glufs)deletionPathogenicrs398123957GRCh37Chr X, 32407664: 32407665
265DMDNM_004006.2(DMD): c.4486delG (p.Glu1496Lysfs)deletionPathogenicrs398123958GRCh37Chr X, 32407650: 32407650
266DMDNM_004006.2(DMD): c.4500delA (p.Gln1501Serfs)deletionPathogenicrs398123959GRCh38Chr X, 32389519: 32389519
267DMDNM_004006.2(DMD): c.4518+5G> Asingle nucleotide variantPathogenicrs398123960GRCh37Chr X, 32407613: 32407613
268DMDNM_004006.2(DMD): c.4534_4535delCT (p.Leu1512Glufs)deletionPathogenicrs398123961GRCh37Chr X, 32404566: 32404567
269DMDNM_004006.2(DMD): c.4545_4549delGAAGT (p.Lys1516Terfs)deletionPathogenicrs398123962GRCh37Chr X, 32404552: 32404556
270DMDNM_004006.2(DMD): c.4634dupT (p.Thr1546Asnfs)duplicationPathogenicrs398123963GRCh37Chr X, 32404467: 32404467
271DMDNM_004006.2(DMD): c.4735G> T (p.Glu1579Ter)single nucleotide variantPathogenicrs398123964GRCh37Chr X, 32398737: 32398737
272DMDNM_004006.2(DMD): c.4843A> T (p.Lys1615Ter)single nucleotide variantPathogenicrs398123969GRCh37Chr X, 32398629: 32398629
273DMDNM_004006.2(DMD): c.489G> A (p.Trp163Ter)single nucleotide variantPathogenicrs398123970GRCh37Chr X, 32834626: 32834626
274DMDNM_004006.2(DMD): c.4902_4908delAGGAGAG (p.Gly1635Profs)deletionPathogenicrs398123971GRCh37Chr X, 32383254: 32383260
275DMDNM_004006.2(DMD): c.4926_4971dup46 (p.Ser1658Glyfs)duplicationPathogenicrs398123972GRCh37Chr X, 32383191: 32383236
276DMDNM_004006.2(DMD): c.4996C> T (p.Arg1666Ter)single nucleotide variantPathogenicrs398123973GRCh37Chr X, 32383166: 32383166
277DMDNM_004006.2(DMD): c.4996_5004delCGAGCAGAAinsT (p.Arg1666Terfs)indelPathogenicrs398123974GRCh37Chr X, 32383158: 32383166
278DMDNM_004006.2(DMD): c.5052delT (p.Phe1684Leufs)deletionPathogenicrs398123977GRCh37Chr X, 32382801: 32382801
279DMDNM_004006.2(DMD): c.5124_5127delGAAA (p.Lys1708Asnfs)deletionPathogenicrs398123979GRCh37Chr X, 32382726: 32382729
280DMDNM_004006.2(DMD): c.5134C> T (p.Gln1712Ter)single nucleotide variantPathogenicrs398123980GRCh37Chr X, 32382719: 32382719
281DMDNM_004006.2(DMD): c.5287C> T (p.Arg1763Ter)single nucleotide variantPathogenicrs398123981GRCh37Chr X, 32380943: 32380943
282DMDNM_004006.2(DMD): c.530+1delGdeletionPathogenicrs398123983GRCh37Chr X, 32834584: 32834584
283DMDNM_004006.2(DMD): c.531-2A> Csingle nucleotide variantPathogenicrs398123985GRCh37Chr X, 32827730: 32827730
284DMDNM_004006.2(DMD): c.5313dupT (p.Lys1772Terfs)duplicationPathogenicrs398123987GRCh37Chr X, 32380917: 32380917
285DMDNM_004006.2(DMD): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs398123990GRCh37Chr X, 32366618: 32366618
286DMDNM_004006.2(DMD): c.5530C> T (p.Arg1844Ter)single nucleotide variantPathogenicrs1064325GRCh37Chr X, 32364116: 32364116
287DMDNM_004006.2(DMD): c.5554C> T (p.Gln1852Ter)single nucleotide variantPathogenicrs398123991GRCh37Chr X, 32364092: 32364092
288DMDNM_004006.2(DMD): c.5570_5571dupAA (p.His1858Asnfs)duplicationPathogenicrs398123992GRCh37Chr X, 32364075: 32364076
289DMDNM_004006.2(DMD): c.5640T> A (p.Tyr1880Ter)single nucleotide variantPathogenicrs398123993GRCh37Chr X, 32361350: 32361350
290DMDNM_004006.2(DMD): c.5671A> T (p.Lys1891Ter)single nucleotide variantPathogenicrs398123995GRCh37Chr X, 32361319: 32361319
291DMDNM_004006.2(DMD): c.5773G> T (p.Glu1925Ter)single nucleotide variantPathogenicrs398123997GRCh37Chr X, 32360366: 32360366
292DMDNM_004006.2(DMD): c.5807T> A (p.Leu1936Ter)single nucleotide variantPathogenicrs398123998GRCh37Chr X, 32360332: 32360332
293DMDNM_004006.2(DMD): c.583C> T (p.Arg195Ter)single nucleotide variantPathogenicrs398123999GRCh37Chr X, 32827676: 32827676
294DMDNM_004006.2(DMD): c.5922+3G> Csingle nucleotide variantPathogenicrs398124000GRCh37Chr X, 32360214: 32360214
295DMDNM_004006.2(DMD): c.5938G> T (p.Glu1980Ter)single nucleotide variantPathogenicrs398124001GRCh37Chr X, 32328378: 32328378
296DMDNM_004006.2(DMD): c.6000T> A (p.Tyr2000Ter)single nucleotide variantPathogenicrs398124002GRCh37Chr X, 32328316: 32328316
297DMDNM_004006.2(DMD): c.6014_6017delCTCA (p.Thr2005Metfs)deletionPathogenicrs398124003GRCh37Chr X, 32328299: 32328302
298DMDNM_004006.2(DMD): c.6072T> A (p.Cys2024Ter)single nucleotide variantPathogenicrs373804251GRCh37Chr X, 32328244: 32328244
299DMDNM_004006.2(DMD): c.615T> A (p.Tyr205Ter)single nucleotide variantPathogenicrs398124004GRCh37Chr X, 32827644: 32827644
300DMDNM_004006.2(DMD): c.6182delC (p.Ala2061Glufs)deletionPathogenicrs398124005GRCh37Chr X, 32305754: 32305754
301DMDNM_004006.2(DMD): c.6226G> T (p.Glu2076Ter)single nucleotide variantPathogenicrs398124007GRCh37Chr X, 32305710: 32305710
302DMDNM_004006.2(DMD): c.6283C> T (p.Arg2095Ter)single nucleotide variantPathogenicrs398124008GRCh37Chr X, 32305653: 32305653
303DMDNM_004006.2(DMD): c.6340A> T (p.Lys2114Ter)single nucleotide variantPathogenicrs398124011GRCh37Chr X, 32235131: 32235131
304DMDNM_004006.2(DMD): c.6391_6392delCA (p.Gln2131Asnfs)deletionPathogenicrs398124012GRCh37Chr X, 32235079: 32235080
305DMDNM_004006.2(DMD): c.6392_6393insCA (p.Gln2131Hisfs)insertionPathogenicrs398124013GRCh37Chr X, 32235078: 32235079
306DMDNM_004006.2(DMD): c.649+1G> Asingle nucleotide variantPathogenicrs398124032GRCh37Chr X, 32827609: 32827609
307DMDNM_004006.2(DMD): c.6763-2A> Gsingle nucleotide variantPathogenicrs398124033GRCh37Chr X, 31947864: 31947864
308DMDNM_004006.2(DMD): c.676_678delAAG (p.Lys226del)deletionPathogenicrs398124034GRCh37Chr X, 32717382: 32717384
309DMDNM_004006.2(DMD): c.6834delT (p.Val2279Terfs)deletionPathogenicrs398124035GRCh37Chr X, 31947791: 31947791
310DMDNM_004006.2(DMD): c.6906G> A (p.Trp2302Ter)single nucleotide variantPathogenicrs398124036GRCh37Chr X, 31947719: 31947719
311DMDNM_004006.2(DMD): c.6936delA (p.Lys2312Asnfs)deletionPathogenicrs398124037GRCh37Chr X, 31893467: 31893467
312DMDNM_004006.2(DMD): c.6943G> T (p.Glu2315Ter)single nucleotide variantPathogenicrs398124038GRCh37Chr X, 31893460: 31893460
313DMDNM_004006.2(DMD): c.6964delG (p.Asp2322Thrfs)deletionPathogenicrs398124039GRCh37Chr X, 31893439: 31893439
314DMDNM_004006.2(DMD): c.6986dupA (p.Leu2330Alafs)duplicationPathogenicrs398124040GRCh37Chr X, 31893417: 31893417
315DMDNM_004006.2(DMD): c.7189C> T (p.Gln2397Ter)single nucleotide variantPathogenicrs398124042GRCh37Chr X, 31854846: 31854846
316DMDNM_004006.2(DMD): c.7229G> A (p.Trp2410Ter)single nucleotide variantPathogenicrs398124043GRCh37Chr X, 31838172: 31838172
317DMDNM_004006.2(DMD): c.7309+1G> Asingle nucleotide variantPathogenicrs398124044GRCh37Chr X, 31838091: 31838091
318DMDNM_004006.2(DMD): c.7552delC (p.Gln2518Argfs)deletionPathogenicrs398124049GRCh37Chr X, 31747856: 31747856
319DMDNM_004006.2(DMD): c.7657C> T (p.Arg2553Ter)single nucleotide variantPathogenicrs398124050GRCh37Chr X, 31747751: 31747751
320DMDNM_004006.2(DMD): c.7682G> A (p.Trp2561Ter)single nucleotide variantPathogenicrs398124052GRCh37Chr X, 31697682: 31697682
321DMDNM_004006.2(DMD): c.7683G> A (p.Trp2561Ter)single nucleotide variantPathogenicrs398124053GRCh37Chr X, 31697681: 31697681
322DMDNM_004006.2(DMD): c.7764dupT (p.Lys2589Terfs)duplicationPathogenicrs398124054GRCh37Chr X, 31697600: 31697600
323DMDNM_004006.2(DMD): c.7771G> T (p.Glu2591Ter)single nucleotide variantPathogenicrs398124055GRCh37Chr X, 31697593: 31697593
324DMDNM_004006.2(DMD): c.7818G> A (p.Trp2606Ter)single nucleotide variantPathogenicrs398124056GRCh37Chr X, 31697546: 31697546
325DMDNM_004006.2(DMD): c.7854delG (p.Ile2620Serfs)deletionPathogenicrs398124057GRCh37Chr X, 31697510: 31697510
326DMDNM_004006.2(DMD): c.7894C> T (p.Gln2632Ter)single nucleotide variantPathogenicrs398124058GRCh37Chr X, 31676240: 31676240
327DMDNM_004006.2(DMD): c.7922delA (p.Asn2641Metfs)deletionPathogenicrs398124059GRCh37Chr X, 31676212: 31676212
328DMDNM_004006.2(DMD): c.8064_8065delTA (p.His2688Glnfs)deletionPathogenicrs398124060GRCh37Chr X, 31645942: 31645943
329DMDNM_004006.2(DMD): c.8069T> G (p.Leu2690Ter)single nucleotide variantPathogenicrs398124061GRCh37Chr X, 31645938: 31645938
330DMDNM_004006.2(DMD): c.8086delC (p.Leu2696Trpfs)deletionPathogenicrs398124062GRCh37Chr X, 31645921: 31645921
331DMDNM_004006.2(DMD): c.8358G> A (p.Trp2786Ter)single nucleotide variantPathogenicrs398124068GRCh37Chr X, 31525430: 31525430
332DMDNM_004006.2(DMD): c.8374_8375delAA (p.Lys2792Valfs)deletionPathogenicrs398124070GRCh37Chr X, 31525413: 31525414
333DMDNM_004006.2(DMD): c.8443C> T (p.Gln2815Ter)single nucleotide variantPathogenicrs398124072GRCh37Chr X, 31515009: 31515009
334DMDNM_004006.2(DMD): c.8464C> T (p.Gln2822Ter)single nucleotide variantPathogenicrs398124073GRCh38Chr X, 31496871: 31496871
335DMDNM_004006.2(DMD): c.8608C> T (p.Arg2870Ter)single nucleotide variantPathogenicrs398124074GRCh37Chr X, 31497160: 31497160
336DMDNM_004006.2(DMD): c.8652_8653delCT (p.Tyr2885Profs)deletionPathogenicrs398124075GRCh37Chr X, 31497115: 31497116
337DMDNM_004006.2(DMD): c.8668G> A (p.Glu2890Lys)single nucleotide variantPathogenicrs398124076GRCh37Chr X, 31497100: 31497100
338DMDNM_004006.2(DMD): c.8912_8913delTC (p.Leu2971Profs)deletionPathogenicrs398124078GRCh37Chr X, 31496247: 31496248
339DMDNM_004006.2(DMD): c.9125delA (p.His3042Profs)deletionPathogenicrs398124080GRCh37Chr X, 31366711: 31366711
340DMDNM_004006.2(DMD): c.9158_9161delTTTC (p.Leu3053Profs)deletionPathogenicrs398124081GRCh37Chr X, 31366675: 31366678
341DMDNM_004006.2(DMD): c.9164-1G> Tsingle nucleotide variantPathogenicrs398124082GRCh37Chr X, 31341776: 31341776
342DMDNM_004006.2(DMD): c.9224+61934A> Gsingle nucleotide variantPathogenicrs398124084GRCh37Chr X, 31279781: 31279781
343DMDNM_004006.2(DMD): c.9225-647A> Gsingle nucleotide variantPathogenicrs398124091GRCh37Chr X, 31279780: 31279780
344DMDNM_004006.2(DMD): c.9337C> T (p.Arg3113Ter)single nucleotide variantPathogenicrs398124092GRCh37Chr X, 31241188: 31241188
345DMDNM_004006.2(DMD): c.9346C> T (p.Gln3116Ter)single nucleotide variantPathogenicrs398124093GRCh37Chr X, 31241179: 31241179
346DMDNM_004006.2(DMD): c.9361+1G> Asingle nucleotide variantPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
347DMDNM_004006.2(DMD): c.9361+1G> Csingle nucleotide variantPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
348DMDNM_004006.2(DMD): c.9564-1G> Asingle nucleotide variantPathogenicrs398124096GRCh37Chr X, 31224785: 31224785
349DMDNM_004006.2(DMD): c.961-5831C> Tsingle nucleotide variantPathogenicrs398124099GRCh37Chr X, 32669100: 32669100
350DMDNM_004006.2(DMD): c.9650-2A> Gsingle nucleotide variantPathogenicrs398124100GRCh37Chr X, 31222237: 31222237
351DMDNM_004006.2(DMD): c.9767dupG (p.Ser3257Glnfs)duplicationPathogenicrs398124103GRCh37Chr X, 31222118: 31222118
352DMDNM_004006.2(DMD): c.9851G> A (p.Trp3284Ter)single nucleotide variantPathogenicrs398124104GRCh37Chr X, 31200978: 31200978
353DMDNM_004006.2(DMD): c.9854_9863delTGAGACTGGA (p.Met3285Asnfs)deletionPathogenicrs398124105GRCh37Chr X, 31200966: 31200975
354DMDNM_004006.2(DMD): c.9862G> T (p.Glu3288Ter)single nucleotide variantPathogenicrs398124106GRCh37Chr X, 31200967: 31200967

Expression for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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Search GEO for disease gene expression data for Dmd-Associated Dilated Cardiomyopathy.

Pathways for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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Pathways related to Dmd-Associated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3DMD, SGCA

GO Terms for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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Cellular components related to Dmd-Associated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.3DMD, SGCA
2membrane raftGO:00451219.3DMD, SGCA
3dystrophin-associated glycoprotein complexGO:00160109.2DMD, SGCA
4sarcolemmaGO:00423839.0DMD, SGCA

Biological processes related to Dmd-Associated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.2SGCA, TAZ
2muscle organ developmentGO:00075179.2DMD, SGCA
3cardiac muscle contractionGO:00600489.0DMD, TAZ
4skeletal muscle tissue developmentGO:00075198.7DMD, TAZ

Sources for Dmd-Associated Dilated Cardiomyopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet