DES (desmin) - Rat Genome Database

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Gene: DES (desmin) Homo sapiens
Analyze
Symbol: DES
Name: desmin
RGD ID: 1347887
HGNC Page HGNC:2770
Description: Enables cytoskeletal protein binding activity and identical protein binding activity. Involved in intermediate filament organization. Located in several cellular components, including intercalated disc; myofibril; and sarcolemma. Implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Biomarker of dilated cardiomyopathy; mitral valve prolapse; and myofibrillar myopathy 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARVC7; ARVD7; cardiomyopathy, dilated 1F (autosomal dominant); cardiomyopathy, dilated 1I; CDCD3; CMD1F; CMD1I; CSM1; CSM2; FLJ12025; FLJ39719; FLJ41013; FLJ41793; intermediate filament protein; LGMD1D; LGMD1E; LGMD2R; MFM1; mutant desmin p.K241E; SCPNK
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: We recognize that OMIM uses LGMD1D to refer to the locus on chromosome 6. There are many citations, however, including PubMed 8533766, 15316618, 20682716, and 21376592 which define LGMD1D as the locus on chromosome 7. We are retaining the usage of the HUGO Gene Nomenclature Committee (HGNC). [24 Jul 2017]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,418,377 - 219,426,734 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,418,377 - 219,426,735 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,283,099 - 220,291,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,991,343 - 219,999,705 (+)NCBINCBI36Build 36hg18NCBI36
Build 342220,108,603 - 220,116,964NCBI
Celera2214,053,115 - 214,061,476 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2212,136,136 - 212,144,500 (+)NCBIHuRef
CHM1_12220,288,920 - 220,297,282 (+)NCBICHM1_1
T2T-CHM13v2.02219,903,171 - 219,911,530 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
alacrima, achalasia, and impaired intellectual development syndrome  (IAGP)
Animal Mammary Neoplasms  (EXP)
arrhythmogenic right ventricular cardiomyopathy  (IAGP,ISO)
arrhythmogenic right ventricular dysplasia 9  (IAGP)
Arteriovenous Fistula  (ISO)
atrial fibrillation  (EXP)
autosomal recessive distal hereditary motor neuronopathy 5  (IAGP)
Breast Neoplasms  (EXP)
carcinoma  (EXP)
cardiomyopathy  (IAGP,ISS)
congenital diaphragmatic hernia  (EXP,IAGP)
dilated cardiomyopathy  (IAGP,IEP,ISO)
dilated cardiomyopathy 1A  (IAGP)
dilated cardiomyopathy 1B  (IAGP)
dilated cardiomyopathy 1H  (IAGP)
dilated cardiomyopathy 1I  (EXP,IAGP,ISS)
dilated cardiomyopathy 1S  (IAGP)
Dilated Cardiomyopathy with Left Ventricular Noncompaction  (IAGP)
Experimental Mammary Neoplasms  (EXP)
familial hypertrophic cardiomyopathy  (IAGP)
Fetal Growth Retardation  (EXP)
glomerulonephritis  (EXP)
hyperhomocysteinemia  (EXP)
hypertrophic cardiomyopathy  (IAGP,ISO)
hypertrophic cardiomyopathy 1  (IAGP)
interstitial lung disease  (IAGP)
limb-girdle muscular dystrophy  (EXP)
megacolon  (IAGP)
mitral valve prolapse  (IEP)
Muscle Hypotonia  (IAGP)
muscular disease  (IAGP)
myofibrillar myopathy  (EXP,IAGP)
myofibrillar myopathy 1  (EXP,IAGP,IEP,ISS)
myopathy  (IAGP)
nephrosis  (EXP)
Neurodevelopmental Disorders  (IAGP)
neurogenic scapuloperoneal syndrome Kaeser type  (EXP,IAGP)
neuromuscular disease  (IAGP)
newborn respiratory distress syndrome  (IAGP)
paroxysmal nonkinesigenic dyskinesia 1  (IAGP)
polydactyly  (IAGP)
pulmonary alveolar proteinosis  (IAGP)
restrictive cardiomyopathy  (IDA)
Stomach Neoplasms  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(R)-adrenaline  (ISO)
(R,R)-tramadol  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-acetamidofluorene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP,ISO)
5-fluorouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
acetamiprid  (ISO)
acetic acid  (ISO)
acrolein  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
apocynin  (ISO)
arachidonic acid  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (ISO)
artesunate  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
boric acid  (EXP)
bucladesine  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
celecoxib  (EXP)
chlordecone  (ISO)
chromium(6+)  (ISO)
clodronic acid  (ISO)
clothianidin  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (EXP)
curcumin  (ISO)
cyclosporin A  (ISO)
DDT  (ISO)
Deoxycorticosterone acetate  (ISO)
desferrioxamine B  (EXP)
dexamethasone  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (ISO)
dibenziodolium  (ISO)
dibutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (EXP,ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
etoposide  (EXP)
ferulic acid  (ISO)
filipin III  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
heparin  (ISO)
homocysteine  (ISO)
hydrogen peroxide  (EXP)
inulin  (ISO)
isoflavones  (ISO)
isoprenaline  (ISO)
levetiracetam  (ISO)
losartan  (ISO)
lutein  (ISO)
medroxyprogesterone acetate  (EXP,ISO)
methotrexate  (EXP)
methyl beta-cyclodextrin  (ISO)
mycophenolic acid  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
Nonylphenol  (ISO)
ozone  (ISO)
Pachymic acid  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
PhIP  (ISO)
phloretin  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
quercetin  (ISO)
resveratrol  (EXP,ISO)
rosmarinic acid  (ISO)
selenium atom  (EXP)
sildenafil citrate  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP,ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tramadol  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (ISO)
triphenylstannane  (EXP)
Triptolide  (ISO)
undecane  (ISO)
valproic acid  (EXP)
valsartan  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal EKG  (IAGP)
Abnormal pulmonary interstitial morphology  (IAGP)
Abnormality of the musculature  (IAGP)
Adult onset  (IAGP)
Areflexia of lower limbs  (IAGP)
Arrhythmia  (IAGP)
Atrioventricular block  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial muscle weakness  (IAGP)
Bradycardia  (IAGP)
Bulbar palsy  (IAGP)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Concentric hypertrophic cardiomyopathy  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital peripheral neuropathy  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Dysphagia  (IAGP)
Edema  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG abnormality  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Exertional dyspnea  (IAGP)
Facial palsy  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Fatigue  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Gynecomastia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hyporeflexia of lower limbs  (IAGP)
Infantile axial hypotonia  (IAGP)
Intraalveolar phospholipid accumulation  (IAGP)
Late-onset proximal muscle weakness  (IAGP)
Left ventricular noncompaction cardiomyopathy  (IAGP)
Left ventricular systolic dysfunction  (IAGP)
Lipoatrophy  (IAGP)
Loss of ambulation  (IAGP)
Megacolon  (IAGP)
Middle age onset  (IAGP)
Myofibrillar myopathy  (IAGP)
Myopathy  (IAGP)
Neck flexor weakness  (IAGP)
Neck muscle weakness  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal respiratory distress  (IAGP)
Orthopnea  (IAGP)
Peroneal muscle atrophy  (IAGP)
Polydactyly  (IAGP)
Progressive muscle weakness  (IAGP)
Proximal muscle weakness  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Reduced left ventricular ejection fraction  (IAGP)
Reduced systolic function  (IAGP)
Respiratory distress  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Restrictive ventilatory defect  (IAGP)
Rimmed vacuoles  (IAGP)
Scapuloperoneal weakness  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shoulder girdle muscle atrophy  (IAGP)
Skeletal myopathy  (IAGP)
Spinal rigidity  (IAGP)
Sudden cardiac death  (IAGP)
Supraventricular arrhythmia  (IAGP)
Talipes equinovarus  (IAGP)
Third degree atrioventricular block  (IAGP)
Thoracic kyphoscoliosis  (IAGP)
Thromboembolic stroke  (IAGP)
Weakness of facial musculature  (IAGP)
Young adult onset  (IAGP)
Z-band streaming  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Disruption of desmin-mitochondrial architecture in patients with regurgitant mitral valves and preserved ventricular function. Ahmed MI, etal., J Thorac Cardiovasc Surg. 2016 Oct;152(4):1059-1070.e2. doi: 10.1016/j.jtcvs.2016.06.017. Epub 2016 Jun 25.
2. Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia. Bermúdez-Jiménez FJ, etal., Circulation. 2018 Apr 10;137(15):1595-1610. doi: 10.1161/CIRCULATIONAHA.117.028719. Epub 2017 Dec 6.
3. Changes of desmin expression pattern in the myocardium of patients with alcoholic dilated cardiomyopathy. Deliu RC, etal., Rom J Morphol Embryol. 2017;58(4):1309-1315.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function. Milner DJ, etal., J Mol Cell Cardiol. 1999 Nov;31(11):2063-76.
6. Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model. Moncayo-Arlandi J, etal., Hum Mol Genet. 2016 Sep 1;25(17):3676-3688. doi: 10.1093/hmg/ddw213. Epub 2016 Jul 12.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Different desmin peptides are distinctly deposited in cytoplasmic aggregations and cytoplasm of desmin-related cardiomyopathy patients. Shintani-Domoto Y, etal., Biochim Biophys Acta. 2017 Jul;1865(7):828-836. doi: 10.1016/j.bbapap.2017.03.006. Epub 2017 Mar 21.
13. Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family. Yu R, etal., Cardiology. 2017;137(2):78-82. doi: 10.1159/000455181. Epub 2017 Feb 8.
14. Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy. Zhang J, etal., Clin Genet. 2001 Apr;59(4):248-56.
Additional References at PubMed
PMID:2007603   PMID:2201025   PMID:2670738   PMID:2673923   PMID:2939097   PMID:7672786   PMID:8186663   PMID:8424456   PMID:8624579   PMID:8641565   PMID:8792816   PMID:8997639  
PMID:9261168   PMID:9382102   PMID:9415431   PMID:9697706   PMID:9736733   PMID:10510252   PMID:10545598   PMID:10574968   PMID:10970245   PMID:11061256   PMID:11073539   PMID:11309420  
PMID:11353857   PMID:11581269   PMID:11668632   PMID:11694502   PMID:11916970   PMID:12064939   PMID:12358155   PMID:12477713   PMID:12477932   PMID:12609507   PMID:12620971   PMID:12686604  
PMID:14648196   PMID:14702039   PMID:15094067   PMID:15468102   PMID:15489334   PMID:15731013   PMID:15759133   PMID:15862967   PMID:16009553   PMID:16439510   PMID:16545539   PMID:16761416  
PMID:16923132   PMID:17188893   PMID:17325244   PMID:17418574   PMID:17436150   PMID:17590381   PMID:17626518   PMID:17720647   PMID:17872945   PMID:17924085   PMID:18061454   PMID:18157088  
PMID:18687124   PMID:18691435   PMID:19005210   PMID:19165527   PMID:19252475   PMID:19460759   PMID:19473514   PMID:19763525   PMID:19879535   PMID:19913121   PMID:20031618   PMID:20111909  
PMID:20133133   PMID:20171226   PMID:20301310   PMID:20301486   PMID:20301582   PMID:20301672   PMID:20423733   PMID:20448486   PMID:20474083   PMID:20618440   PMID:20628086   PMID:20654101  
PMID:20696008   PMID:20706999   PMID:20718792   PMID:20829228   PMID:20936779   PMID:21083940   PMID:21135508   PMID:21262226   PMID:21768101   PMID:21784990   PMID:21842594   PMID:21873635  
PMID:21982405   PMID:22085644   PMID:22096479   PMID:22153487   PMID:22266860   PMID:22349865   PMID:22386993   PMID:22395512   PMID:22395865   PMID:22403400   PMID:22484823   PMID:22558309  
PMID:22658674   PMID:22775584   PMID:22939629   PMID:23036309   PMID:23051780   PMID:23075894   PMID:23168288   PMID:23414517   PMID:23533145   PMID:23615443   PMID:23687351   PMID:23713052  
PMID:24200904   PMID:24441330   PMID:24940650   PMID:25184681   PMID:25277244   PMID:25394388   PMID:25416956   PMID:25541946   PMID:25575565   PMID:25609649   PMID:25680090   PMID:25732530  
PMID:25771144   PMID:26431784   PMID:26618866   PMID:26724190   PMID:26816005   PMID:26871637   PMID:26947931   PMID:27107012   PMID:27304995   PMID:27393313   PMID:27565725   PMID:27733623  
PMID:28302793   PMID:28427417   PMID:28470624   PMID:28514442   PMID:28524877   PMID:28793217   PMID:29128334   PMID:29167554   PMID:29196434   PMID:29483093   PMID:30096250   PMID:30097466  
PMID:30466735   PMID:30792239   PMID:30908796   PMID:31024060   PMID:31059101   PMID:31165505   PMID:31369751   PMID:31371504   PMID:31489966   PMID:31536960   PMID:31586073   PMID:31670395  
PMID:31835587   PMID:32235678   PMID:32296183   PMID:32461394   PMID:32520607   PMID:32814053   PMID:33253282   PMID:33290826   PMID:33373648   PMID:33478057   PMID:33567341   PMID:33823640  
PMID:33825342   PMID:33961781   PMID:34079125   PMID:34289528   PMID:34349018   PMID:35102251   PMID:35256949   PMID:35575683   PMID:35675837   PMID:35676659   PMID:36221331   PMID:36497166  
PMID:36555543   PMID:37827485   PMID:38167524   PMID:38247853   PMID:38334954   PMID:38607042   PMID:38824194   PMID:39506849  


Genomics

Comparative Map Data
DES
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,418,377 - 219,426,734 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,418,377 - 219,426,735 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,283,099 - 220,291,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,991,343 - 219,999,705 (+)NCBINCBI36Build 36hg18NCBI36
Build 342220,108,603 - 220,116,964NCBI
Celera2214,053,115 - 214,061,476 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2212,136,136 - 212,144,500 (+)NCBIHuRef
CHM1_12220,288,920 - 220,297,282 (+)NCBICHM1_1
T2T-CHM13v2.02219,903,171 - 219,911,530 (+)NCBIT2T-CHM13v2.0
Des
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,336,936 - 75,345,223 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl175,336,973 - 75,345,223 (+)EnsemblGRCm39 Ensembl
GRCm38175,360,292 - 75,368,579 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,360,329 - 75,368,579 (+)EnsemblGRCm38mm10GRCm38
MGSCv37175,356,919 - 75,364,291 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36175,243,492 - 75,250,864 (+)NCBIMGSCv36mm8
Celera175,850,928 - 75,858,300 (+)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.85NCBI
Des
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8984,299,626 - 84,307,344 (+)NCBIGRCr8
mRatBN7.2976,850,979 - 76,858,695 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,850,982 - 76,858,699 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx985,295,425 - 85,303,120 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,424,309 - 90,432,004 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,810,539 - 88,818,185 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,556,574 - 82,564,288 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,556,573 - 82,564,294 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0982,325,835 - 82,333,549 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,637,783 - 74,645,499 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,784,772 - 74,792,478 (+)NCBI
Celera974,421,090 - 74,428,604 (+)NCBICelera
Cytogenetic Map9q33NCBI
Des
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,039,502 - 14,047,246 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,039,502 - 14,046,572 (-)NCBIChiLan1.0ChiLan1.0
DES
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213122,043,970 - 122,061,424 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B122,058,936 - 122,071,977 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B106,675,761 - 106,684,129 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B225,266,081 - 225,274,446 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,266,261 - 225,273,604 (+)Ensemblpanpan1.1panPan2
DES
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,933,525 - 25,939,910 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,933,455 - 25,940,985 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,759,350 - 26,765,730 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,948,759 - 25,955,145 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,948,680 - 25,958,140 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13725,852,619 - 25,858,998 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,788,621 - 25,795,000 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,809,193 - 25,815,585 (+)NCBIUU_Cfam_GSD_1.0
Des
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303175,465,108 - 175,472,155 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,807,805 - 1,815,562 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,807,902 - 1,814,936 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DES
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,427,642 - 121,435,423 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115121,428,539 - 121,435,426 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,560,511 - 134,567,338 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DES
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,312,348 - 105,320,869 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604094,079,539 - 94,087,721 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Des
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248235,622,283 - 5,632,283 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248235,624,958 - 5,632,234 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DES
970 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000002.11:g.(?_220150706)_(220290732_?)dup duplication Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000552669] Chr2:219285984..219426010 [GRCh38]
Chr2:220150706..220290732 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1219A>C (p.Lys407Gln) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000551956] Chr2:219421535 [GRCh38]
Chr2:220286257 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000817811]|not provided [RCV000056783] Chr2:219423787 [GRCh38]
Chr2:220288509 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_001927.4(DES):c.669T>C (p.Ile223=) single nucleotide variant Cardiomyopathy [RCV000029659]|Cardiovascular phenotype [RCV000250651]|Desmin-related myofibrillar myopathy [RCV000476709]|Dilated cardiomyopathy 1I [RCV000384969]|Myofibrillar Myopathy, Dominant [RCV000265756]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000320860]|not provided [RCV001659730]|not specified [RCV000037247] Chr2:219420280 [GRCh38]
Chr2:220285002 [GRCh37]
Chr2:2q35
benign|likely benign
NM_001927.4(DES):c.75A>G (p.Pro25=) single nucleotide variant Cardiomyopathy [RCV000029660]|Cardiovascular phenotype [RCV000250669]|Desmin-related myofibrillar myopathy [RCV001509595]|Dilated cardiomyopathy 1I [RCV000395699]|Myofibrillar Myopathy, Dominant [RCV000395883]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000356753]|not provided [RCV000710119]|not specified [RCV000037251] Chr2:219418537 [GRCh38]
Chr2:220283259 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.93T>C (p.Ser31=) single nucleotide variant Cardiomyopathy [RCV000029661]|Cardiovascular phenotype [RCV000242424]|Desmin-related myofibrillar myopathy [RCV001509596]|Dilated cardiomyopathy 1I [RCV000312502]|Myofibrillar Myopathy, Dominant [RCV000277612]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000369464]|not provided [RCV000710120]|not specified [RCV000037256] Chr2:219418555 [GRCh38]
Chr2:220283277 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265557]|Dilated cardiomyopathy 1I [RCV000856836]|not provided [RCV000056762] Chr2:219420939 [GRCh38]
Chr2:220285661 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.1078G>C (p.Ala360Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265558] Chr2:219421394 [GRCh38]
Chr2:220286116 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) single nucleotide variant Cardiovascular phenotype [RCV003162255]|Desmin-related myofibrillar myopathy [RCV002265559]|not provided [RCV000056778] Chr2:219421494 [GRCh38]
Chr2:220286216 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) deletion Desmin-related myofibrillar myopathy [RCV002265560]|not provided [RCV000056803] Chr2:219418977..219418997 [GRCh38]
Chr2:220283699..220283719 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.1353C>G (p.Ile451Met) single nucleotide variant Cardiovascular phenotype [RCV004018640]|Desmin-related myofibrillar myopathy [RCV000698481]|Dilated cardiomyopathy 1I [RCV000018318]|not provided [RCV000056787]|not specified [RCV002265561] Chr2:219425727 [GRCh38]
Chr2:220290449 [GRCh37]
Chr2:2q35
pathogenic|benign|uncertain significance|not provided
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001044194]|not provided [RCV000056765] Chr2:219421350 [GRCh38]
Chr2:220286072 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|not provided
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV001787806]|Cardiomyopathy [RCV001798009]|Desmin-related myofibrillar myopathy [RCV000627795]|not provided [RCV000056781] Chr2:219421532 [GRCh38]
Chr2:220286254 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
DES, IVS3DS, A-G, +3 single nucleotide variant Myofibrillar myopathy 1 [RCV000018321] Chr2:2q35 pathogenic
DES, IVS2, G-A, -1 single nucleotide variant Myofibrillar myopathy 1 [RCV000018322] Chr2:2q35 pathogenic
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265562]|not provided [RCV000056775] Chr2:219421470 [GRCh38]
Chr2:220286192 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.1166A>C (p.Gln389Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265563]|not provided [RCV000056776] Chr2:219421482 [GRCh38]
Chr2:220286204 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|not provided
DES, GLU359-ALA360-SER361 DEL deletion Desmin-related myofibrillar myopathy [RCV002265564] Chr2:2q35 pathogenic
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) microsatellite Desmin-related myofibrillar myopathy [RCV001316353]|not provided [RCV000056771] Chr2:219421410..219421412 [GRCh38]
Chr2:220286132..220286134 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|uncertain significance|not provided
DES, 3-BP DEL, 720GAA insertion Desmin-related myofibrillar myopathy [RCV002265565] Chr2:2q35 pathogenic
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000811753]|not provided [RCV000056784] Chr2:219425699 [GRCh38]
Chr2:220290421 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000651542]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000018329]|not provided [RCV000056767] Chr2:219421365 [GRCh38]
Chr2:220286087 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.541G>A (p.Asp181Asn) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265808]|Dilated cardiomyopathy 1I [RCV000577988] Chr2:219419003 [GRCh38]
Chr2:220283725 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1255C>A (p.Pro419Thr) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000546121] Chr2:219423787 [GRCh38]
Chr2:220288509 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1289-2A>G single nucleotide variant Abnormality of the musculature [RCV001814034]|Desmin-related myofibrillar myopathy [RCV002265587]|not provided [RCV001781382] Chr2:219425661 [GRCh38]
Chr2:220290383 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic
NM_001927.4(DES):c.1014G>C (p.Leu338=) single nucleotide variant Cardiovascular phenotype [RCV000250707]|Desmin-related myofibrillar myopathy [RCV001509598]|Dilated cardiomyopathy 1I [RCV000270208]|Myofibrillar Myopathy, Dominant [RCV000388336]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000293964]|not provided [RCV000710116]|not specified [RCV000037222] Chr2:219420944 [GRCh38]
Chr2:220285666 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.1026C>T (p.Asn342=) single nucleotide variant Cardiomyopathy [RCV000770172]|Cardiovascular phenotype [RCV000248571]|Desmin-related myofibrillar myopathy [RCV000459928]|Dilated cardiomyopathy 1I [RCV000336268]|Myofibrillar Myopathy, Dominant [RCV000348859]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000281168]|not provided [RCV001529517]|not specified [RCV000037223] Chr2:219421342 [GRCh38]
Chr2:220286064 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) single nucleotide variant Cardiomyopathy [RCV003486560]|Cardiovascular phenotype [RCV003298065]|DES-related disorder [RCV003398603]|Desmin-related myofibrillar myopathy [RCV001039932]|Dilated cardiomyopathy 1I [RCV001250885]|Primary dilated cardiomyopathy [RCV000157164]|not provided [RCV000056766]|not specified [RCV000037224] Chr2:219421364 [GRCh38]
Chr2:220286086 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001927.4(DES):c.1104G>A (p.Ala368=) single nucleotide variant Cardiovascular phenotype [RCV000242476]|Desmin-related myofibrillar myopathy [RCV001509599]|Dilated cardiomyopathy 1I [RCV000403379]|Myofibrillar Myopathy, Dominant [RCV000305879]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000342152]|not provided [RCV000710117]|not specified [RCV000037225] Chr2:219421420 [GRCh38]
Chr2:220286142 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.114G>A (p.Ala38=) single nucleotide variant Cardiomyopathy [RCV001171065]|Cardiovascular phenotype [RCV002453311]|DES-related disorder [RCV003944905]|Desmin-related myofibrillar myopathy [RCV000464462]|Dilated cardiomyopathy 1I [RCV002490504]|not provided [RCV001705670]|not specified [RCV000037226] Chr2:219418576 [GRCh38]
Chr2:220283298 [GRCh37]
Chr2:2q35
benign|likely benign|uncertain significance
NM_001927.4(DES):c.114G>T (p.Ala38=) single nucleotide variant Cardiovascular phenotype [RCV003162322]|Desmin-related myofibrillar myopathy [RCV000869830]|not specified [RCV000037227] Chr2:219418576 [GRCh38]
Chr2:220283298 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.1226T>C (p.Leu409Pro) single nucleotide variant not specified [RCV000037228] Chr2:219421542 [GRCh38]
Chr2:220286264 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1260C>T (p.Ile420=) single nucleotide variant not specified [RCV000037229] Chr2:219423792 [GRCh38]
Chr2:220288514 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.127A>G (p.Lys43Glu) single nucleotide variant not specified [RCV000037230] Chr2:219418589 [GRCh38]
Chr2:220283311 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001852772]|not specified [RCV000037231] Chr2:219425740 [GRCh38]
Chr2:220290462 [GRCh37]
Chr2:2q35
conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.1375G>A (p.Val459Ile) single nucleotide variant Cardiomyopathy [RCV000770175]|Cardiovascular phenotype [RCV000248138]|Desmin-related myofibrillar myopathy [RCV001084307]|Dilated cardiomyopathy 1I [RCV000307505]|Myofibrillar Myopathy, Dominant [RCV000271115]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000366607]|Primary dilated cardiomyopathy [RCV000172744]|not provided [RCV000056791]|not specified [RCV000037232] Chr2:219425952 [GRCh38]
Chr2:220290674 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001927.4(DES):c.1404A>G (p.Glu468=) single nucleotide variant Cardiovascular phenotype [RCV002390149]|Desmin-related myofibrillar myopathy [RCV001078786]|not provided [RCV000725821]|not specified [RCV000037233] Chr2:219425981 [GRCh38]
Chr2:220290703 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.170C>T (p.Ser57Leu) single nucleotide variant Cardiovascular phenotype [RCV000621896]|Desmin-related myofibrillar myopathy [RCV000547047]|Dilated cardiomyopathy 1I [RCV001142159]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001142158]|not provided [RCV000586931]|not specified [RCV000037234] Chr2:219418632 [GRCh38]
Chr2:220283354 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.18G>A (p.Ser6=) single nucleotide variant Cardiomyopathy [RCV000769153]|Cardiovascular phenotype [RCV002408511]|Desmin-related myofibrillar myopathy [RCV001081339]|Dilated cardiomyopathy 1I [RCV000334781]|Myofibrillar Myopathy, Dominant [RCV000340575]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000405735]|not provided [RCV000724222]|not specified [RCV000037235] Chr2:219418480 [GRCh38]
Chr2:220283202 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.193G>A (p.Gly65Ser) single nucleotide variant Cardiovascular phenotype [RCV004018830]|Desmin-related myofibrillar myopathy [RCV000805979]|Dilated cardiomyopathy 1I [RCV000515205]|Dilated cardiomyopathy 1I [RCV001137423]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001137421]|not provided [RCV000724220]|not specified [RCV000037236] Chr2:219418655 [GRCh38]
Chr2:220283377 [GRCh37]
Chr2:2q35
benign|likely benign|uncertain significance
NM_001927.4(DES):c.282C>G (p.Ala94=) single nucleotide variant Cardiovascular phenotype [RCV002433500]|Desmin-related myofibrillar myopathy [RCV002054649]|not specified [RCV000037237] Chr2:219418744 [GRCh38]
Chr2:220283466 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.372G>A (p.Glu124=) single nucleotide variant Cardiovascular phenotype [RCV000252338]|Desmin-related myofibrillar myopathy [RCV000472667]|Dilated cardiomyopathy 1I [RCV000271597]|Myofibrillar Myopathy, Dominant [RCV000376849]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000329285]|not provided [RCV000711439]|not specified [RCV000037238] Chr2:219418834 [GRCh38]
Chr2:220283556 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001927.4(DES):c.380G>C (p.Arg127Pro) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852536]|Desmin-related myofibrillar myopathy [RCV000547988]|not provided [RCV000183371]|not specified [RCV000037239] Chr2:219418842 [GRCh38]
Chr2:220283564 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.38C>T (p.Ser13Phe) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001389153]|Primary dilated cardiomyopathy [RCV000037240]|not provided [RCV000056801] Chr2:219418500 [GRCh38]
Chr2:220283222 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.407T>A (p.Leu136His) single nucleotide variant Cardiomyopathy [RCV001798112]|Cardiovascular phenotype [RCV000618538]|Desmin-related myofibrillar myopathy [RCV000528546]|Dilated cardiomyopathy 1I [RCV002504889]|Myopathy [RCV000735343]|not provided [RCV000726980]|not specified [RCV000037241] Chr2:219418869 [GRCh38]
Chr2:220283591 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.408C>T (p.Leu136=) single nucleotide variant Cardiovascular phenotype [RCV000249408]|Desmin-related myofibrillar myopathy [RCV000460179]|Dilated cardiomyopathy 1I [RCV000323335]|Myofibrillar Myopathy, Dominant [RCV000380447]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000284644]|not provided [RCV001668158]|not specified [RCV000037242] Chr2:219418870 [GRCh38]
Chr2:220283592 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001927.4(DES):c.578+11G>A single nucleotide variant Desmin-related myofibrillar myopathy [RCV002054650]|Dilated cardiomyopathy 1I [RCV000282624]|Myofibrillar Myopathy, Dominant [RCV000336446]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000349318]|not provided [RCV001675591]|not specified [RCV000037243] Chr2:219419051 [GRCh38]
Chr2:220283773 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.582G>A (p.Leu194=) single nucleotide variant not specified [RCV000037244] Chr2:219420098 [GRCh38]
Chr2:220284820 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.638C>T (p.Ala213Val) single nucleotide variant Cardiomyopathy [RCV001171067]|Cardiovascular phenotype [RCV000250294]|Congenital diaphragmatic hernia [RCV000203295]|Desmin-related myofibrillar myopathy [RCV001083932]|Dilated cardiomyopathy 1I [RCV000313133]|Myofibrillar Myopathy, Dominant [RCV000263666]|Myofibrillar myopathy [RCV000239721]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000367823]|not provided [RCV000056805]|not specified [RCV000037245] Chr2:219420154 [GRCh38]
Chr2:220284876 [GRCh37]
Chr2:2q35
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001927.4(DES):c.642C>T (p.Asp214=) single nucleotide variant Cardiovascular phenotype [RCV002362627]|Desmin-related myofibrillar myopathy [RCV001085258]|Dilated cardiomyopathy 1I [RCV001142275]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001142276]|not provided [RCV000726210]|not specified [RCV000037246] Chr2:219420253 [GRCh38]
Chr2:220284975 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.709G>A (p.Ala237Thr) single nucleotide variant Cardiovascular phenotype [RCV004018831]|Desmin-related myofibrillar myopathy [RCV000795291]|Dilated cardiomyopathy 1I [RCV002482985]|not provided [RCV000727164]|not specified [RCV000037248] Chr2:219420320 [GRCh38]
Chr2:220285042 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.735+1G>A single nucleotide variant Desmin-related myofibrillar myopathy [RCV001220792]|not provided [RCV000393713] Chr2:219420347 [GRCh38]
Chr2:220285069 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001927.4(DES):c.735+20C>T single nucleotide variant Desmin-related myofibrillar myopathy [RCV002054651]|Myofibrillar myopathy [RCV000239638]|not provided [RCV001650866]|not specified [RCV000037250] Chr2:219420366 [GRCh38]
Chr2:220285088 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_001927.4(DES):c.785A>T (p.Glu262Val) single nucleotide variant Cardiomyopathy [RCV003486561]|Cardiovascular phenotype [RCV002408512]|DES-related disorder [RCV003944906]|Desmin-related myofibrillar myopathy [RCV001081604]|not provided [RCV000711441]|not specified [RCV000037252] Chr2:219420544 [GRCh38]
Chr2:220285266 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.792C>T (p.Asp264=) single nucleotide variant Cardiomyopathy [RCV003486562]|Cardiovascular phenotype [RCV000242387]|Desmin-related myofibrillar myopathy [RCV000204254]|Dilated cardiomyopathy 1I [RCV000381468]|Dilated cardiomyopathy 1I [RCV002496583]|Myofibrillar Myopathy, Dominant [RCV000345483]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000350858]|not provided [RCV001675592]|not specified [RCV000037253] Chr2:219420551 [GRCh38]
Chr2:220285273 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001927.4(DES):c.828C>T (p.Asp276=) single nucleotide variant Cardiovascular phenotype [RCV000247557]|Desmin-related myofibrillar myopathy [RCV001509597]|Dilated cardiomyopathy 1I [RCV000397462]|Myofibrillar Myopathy, Dominant [RCV000338231]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000390698]|not provided [RCV001650867]|not specified [RCV000037254] Chr2:219420587 [GRCh38]
Chr2:220285309 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.897+4_897+5del deletion Cardiomyopathy [RCV000770170]|Cardiovascular phenotype [RCV002444477]|DES-related disorder [RCV003924916]|Desmin-related myofibrillar myopathy [RCV000462365]|Dilated Cardiomyopathy, Dominant [RCV000352919]|Dilated cardiomyopathy 1I [RCV001258319]|Dilated cardiomyopathy 1I [RCV002482986]|Myofibrillar Myopathy, Dominant [RCV000298076]|Scapuloperoneal weakness [RCV000304469]|not provided [RCV001610325]|not specified [RCV000037255] Chr2:219420659..219420660 [GRCh38]
Chr2:220285381..220285382 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity
NM_001927.4(DES):c.934G>A (p.Asp312Asn) single nucleotide variant Cardiomyopathy [RCV000770171]|Cardiovascular phenotype [RCV000245347]|Desmin-related myofibrillar myopathy [RCV000475003]|Dilated cardiomyopathy 1I [RCV001137622]|Dilated cardiomyopathy 1I [RCV002265577]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001137623]|Primary dilated cardiomyopathy [RCV001293064]|not provided [RCV000056815] Chr2:219420864 [GRCh38]
Chr2:220285586 [GRCh37]
Chr2:2q35
benign|likely benign|uncertain significance|not provided
NM_001927.4(DES):c.935A>C (p.Asp312Ala) single nucleotide variant Cardiovascular phenotype [RCV000243219]|DES-related disorder [RCV003914934]|Desmin-related myofibrillar myopathy [RCV001085666]|not provided [RCV000725547]|not specified [RCV000037258] Chr2:219420865 [GRCh38]
Chr2:220285587 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.980A>C (p.Gln327Pro) single nucleotide variant not specified [RCV000037259] Chr2:219420910 [GRCh38]
Chr2:220285632 [GRCh37]
Chr2:2q35
uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3
pathogenic
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000796175]|not provided [RCV000056763] Chr2:219420943 [GRCh38]
Chr2:220285665 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|not provided
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001380949]|not provided [RCV000056764] Chr2:219421340 [GRCh38]
Chr2:220286062 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000799745]|not provided [RCV000056768] Chr2:219421380 [GRCh38]
Chr2:220286102 [GRCh37]
Chr2:2q35
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001927.4(DES):c.1069G>C (p.Ala357Pro) single nucleotide variant Myofibrillar myopathy [RCV000239682]|not provided [RCV000056769] Chr2:219421385 [GRCh38]
Chr2:220286107 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) deletion Desmin-related myofibrillar myopathy [RCV002274893]|not provided [RCV000056770] Chr2:219421385..219421393 [GRCh38]
Chr2:220286107..220286115 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.1099A>T (p.Ile367Phe) single nucleotide variant not provided [RCV000056772] Chr2:219421415 [GRCh38]
Chr2:220286137 [GRCh37]
Chr2:2q35
not provided
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001043598]|not provided [RCV000056773] Chr2:219421425 [GRCh38]
Chr2:220286147 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.1126C>T (p.His376Tyr) single nucleotide variant not provided [RCV000056774] Chr2:219421442 [GRCh38]
Chr2:220286164 [GRCh37]
Chr2:2q35
not provided
NM_001927.4(DES):c.1175T>C (p.Leu392Pro) single nucleotide variant not provided [RCV000056777] Chr2:219421491 [GRCh38]
Chr2:220286213 [GRCh37]
Chr2:2q35
uncertain significance|not provided
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265588]|not provided [RCV000056779] Chr2:219421511 [GRCh38]
Chr2:220286233 [GRCh37]
Chr2:2q35
likely pathogenic|not provided
NM_001927.4(DES):c.1201G>A (p.Glu401Lys) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001064294]|not provided [RCV000056780] Chr2:219421517 [GRCh38]
Chr2:220286239 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|not provided
NM_001927.4(DES):c.1237G>A (p.Glu413Lys) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000685786]|not provided [RCV000056782] Chr2:219421553 [GRCh38]
Chr2:220286275 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|not provided
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) single nucleotide variant Cardiovascular phenotype [RCV003162434]|Desmin-related myofibrillar myopathy [RCV001854165]|Dilated cardiomyopathy 1I [RCV002483084]|not provided [RCV000056785] Chr2:219425707 [GRCh38]
Chr2:220290429 [GRCh37]
Chr2:2q35
pathogenic|uncertain significance|not provided
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001854166]|Myofibrillar myopathy [RCV000239724]|not provided [RCV000056786] Chr2:219425720 [GRCh38]
Chr2:220290442 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|not provided
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001854167]|not provided [RCV000056788] Chr2:219425732 [GRCh38]
Chr2:220290454 [GRCh37]
Chr2:2q35
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) single nucleotide variant Cardiovascular phenotype [RCV002381360]|Desmin-related myofibrillar myopathy [RCV000684771]|Dilated cardiomyopathy 1I [RCV004795992]|Primary dilated cardiomyopathy [RCV000498999]|Primary dilated cardiomyopathy [RCV000844627]|Primary familial hypertrophic cardiomyopathy [RCV000155027]|not provided [RCV000056789] Chr2:219425734 [GRCh38]
Chr2:220290456 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_001927.4(DES):c.1370A>T (p.Glu457Val) single nucleotide variant not provided [RCV000056790] Chr2:219425744 [GRCh38]
Chr2:220290466 [GRCh37]
Chr2:2q35
not provided
NM_001927.4(DES):c.1379G>T (p.Ser460Ile) single nucleotide variant not provided [RCV000056792] Chr2:219425956 [GRCh38]
Chr2:220290678 [GRCh37]
Chr2:2q35
likely pathogenic|not provided
NM_001927.4(DES):c.137C>A (p.Ser46Tyr) single nucleotide variant not provided [RCV000056793] Chr2:219418599 [GRCh38]
Chr2:220283321 [GRCh37]
Chr2:2q35
likely pathogenic|not provided
NM_001927.4(DES):c.137C>T (p.Ser46Phe) single nucleotide variant not provided [RCV000056794] Chr2:219418599 [GRCh38]
Chr2:220283321 [GRCh37]
Chr2:2q35
likely pathogenic|not provided
NM_001927.4(DES):c.1405G>A (p.Val469Met) single nucleotide variant not provided [RCV000056795] Chr2:219425982 [GRCh38]
Chr2:220290704 [GRCh37]
Chr2:2q35
not provided
NM_001927.4(DES):c.322G>A (p.Glu108Lys) single nucleotide variant Cardiovascular phenotype [RCV004018986]|Desmin-related myofibrillar myopathy [RCV001232668]|Dilated cardiomyopathy 1I [RCV002504955]|not provided [RCV000056796] Chr2:219418784 [GRCh38]
Chr2:220283506 [GRCh37]
Chr2:2q35
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001927.4(DES):c.338_339del (p.Gln113fs) deletion not provided [RCV000056797] Chr2:219418800..219418801 [GRCh38]
Chr2:220283522..220283523 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.340_342del (p.Glu114del) deletion not provided [RCV000056798] Chr2:219418800..219418802 [GRCh38]
Chr2:220283522..220283524 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.347A>G (p.Asn116Ser) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001384253]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV004767051]|not provided [RCV000056799] Chr2:219418809 [GRCh38]
Chr2:220283531 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|not provided
NM_001927.4(DES):c.35C>T (p.Ser12Phe) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001061421]|Primary dilated cardiomyopathy [RCV000154600]|not provided [RCV000056800] Chr2:219418497 [GRCh38]
Chr2:220283219 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|not provided
NM_001927.4(DES):c.46C>T (p.Arg16Cys) single nucleotide variant Myofibrillar myopathy [RCV000239680]|not provided [RCV000056802] Chr2:219418508 [GRCh38]
Chr2:220283230 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|not provided
NM_001927.4(DES):c.5G>T (p.Ser2Ile) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000794180]|Primary familial dilated cardiomyopathy [RCV004799771]|not provided [RCV000056804] Chr2:219418467 [GRCh38]
Chr2:220283189 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001927.4(DES):c.640-1G>A single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265589]|not provided [RCV000056806] Chr2:219420250 [GRCh38]
Chr2:220284972 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.640-2A>G single nucleotide variant Desmin-related myofibrillar myopathy [RCV001854168]|not provided [RCV000056807] Chr2:219420249 [GRCh38]
Chr2:220284971 [GRCh37]
Chr2:2q35
pathogenic|uncertain significance|not provided
NM_001927.4(DES):c.735+2_735+11del deletion not provided [RCV000056809] Chr2:219420346..219420355 [GRCh38]
Chr2:220285068..220285077 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.735+3A>G single nucleotide variant Cardiovascular phenotype [RCV002381361]|Desmin-related myofibrillar myopathy [RCV001233592]|Primary dilated cardiomyopathy [RCV000154574]|not provided [RCV000056810] Chr2:219420349 [GRCh38]
Chr2:220285071 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.735G>C (p.Glu245Asp) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265590]|Dilated cardiomyopathy 1I [RCV002226454]|not provided [RCV000056811] Chr2:219420346 [GRCh38]
Chr2:220285068 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|not provided
NM_001927.4(DES):c.821T>C (p.Leu274Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV004776428]|not provided [RCV000056812] Chr2:219420580 [GRCh38]
Chr2:220285302 [GRCh37]
Chr2:2q35
likely pathogenic|not provided
NM_001927.4(DES):c.821T>G (p.Leu274Arg) single nucleotide variant not provided [RCV000056813] Chr2:219420580 [GRCh38]
Chr2:220285302 [GRCh37]
Chr2:2q35
uncertain significance|not provided
NM_001927.4(DES):c.893C>T (p.Ser298Leu) single nucleotide variant Cardiomyopathy [RCV000735983]|Cardiovascular phenotype [RCV003352761]|Desmin-related myofibrillar myopathy [RCV000466593]|Dilated cardiomyopathy 1I [RCV001142372]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001143228]|Primary dilated cardiomyopathy [RCV000171830]|not provided [RCV000056814] Chr2:219420652 [GRCh38]
Chr2:220285374 [GRCh37]
Chr2:219993618 [NCBI36]
Chr2:2q35
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001927.4(DES):c.625G>C (p.Ala209Pro) single nucleotide variant not provided [RCV000658042] Chr2:219420141 [GRCh38]
Chr2:220284863 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.723dup (p.Val242fs) duplication not provided [RCV000056808] Chr2:219420331..219420332 [GRCh38]
Chr2:220285053..220285054 [GRCh37]
Chr2:2q35
not provided
NM_001927.4(DES):c.897+16C>T single nucleotide variant Desmin-related myofibrillar myopathy [RCV002055522]|not specified [RCV000124667] Chr2:219420672 [GRCh38]
Chr2:220285394 [GRCh37]
Chr2:2q35
benign|likely benign
NM_001927.4(DES):c.324G>A (p.Glu108=) single nucleotide variant Cardiovascular phenotype [RCV000250330]|Desmin-related myofibrillar myopathy [RCV000226557]|not provided [RCV001529031]|not specified [RCV000154551] Chr2:219418786 [GRCh38]
Chr2:220283508 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity
NM_001927.4(DES):c.1243C>G (p.Arg415Gly) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001367750]|not provided [RCV001762638] Chr2:219421559 [GRCh38]
Chr2:220286281 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.216C>A (p.Ser72Arg) single nucleotide variant Cardiomyopathy [RCV001798625]|Cardiovascular phenotype [RCV002426827]|Desmin-related myofibrillar myopathy [RCV000463940]|Dilated cardiomyopathy 1I [RCV002265658]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001330866]|not provided [RCV000710118]|not specified [RCV001706118] Chr2:219418678 [GRCh38]
Chr2:220283400 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_001927.4(DES):c.1133A>C (p.Lys378Thr) single nucleotide variant not provided [RCV000171884] Chr2:219421449 [GRCh38]
Chr2:220286171 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1361G>A (p.Arg454Gln) single nucleotide variant Cardiovascular phenotype [RCV003298207]|Desmin-related myofibrillar myopathy [RCV001852085]|not provided [RCV000171885] Chr2:219425735 [GRCh38]
Chr2:220290457 [GRCh37]
Chr2:2q35
conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.1404A>C (p.Glu468Asp) single nucleotide variant Cardiovascular phenotype [RCV002390410]|Desmin-related myofibrillar myopathy [RCV003105808]|not provided [RCV000171886] Chr2:219425981 [GRCh38]
Chr2:220290703 [GRCh37]
Chr2:2q35
uncertain significance
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 copy number gain See cases [RCV000138093] Chr2:219081620..219758878 [GRCh38]
Chr2:219946342..220623600 [GRCh37]
Chr2:219654586..220331844 [NCBI36]
Chr2:2q35
uncertain significance
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
NM_001927.4(DES):c.243C>T (p.Ser81=) single nucleotide variant Cardiomyopathy [RCV003486705]|Cardiovascular phenotype [RCV000620327]|Desmin-related myofibrillar myopathy [RCV000471679]|not provided [RCV001697118]|not specified [RCV000156075] Chr2:219418705 [GRCh38]
Chr2:220283427 [GRCh37]
Chr2:2q35
benign|likely benign
NM_001927.4(DES):c.735+1G>C single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265627] Chr2:219420347 [GRCh38]
Chr2:220285069 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic
NM_001927.4(DES):c.1189G>A (p.Ala397Thr) single nucleotide variant Desmin-related myofibrillar myopathy [RCV003764906]|not specified [RCV000150382] Chr2:219421505 [GRCh38]
Chr2:220286227 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1374C>T (p.Val458=) single nucleotide variant Cardiovascular phenotype [RCV003162609]|Desmin-related myofibrillar myopathy [RCV001458336]|not specified [RCV000150383] Chr2:219425951 [GRCh38]
Chr2:220290673 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.79G>A (p.Gly27Ser) single nucleotide variant Cardiovascular phenotype [RCV002415673]|Desmin-related myofibrillar myopathy [RCV000700537]|not provided [RCV000766816]|not specified [RCV000156244] Chr2:219418541 [GRCh38]
Chr2:220283263 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.75= (p.Pro25=) single nucleotide variant not specified [RCV000154433] Chr2:219418537 [GRCh38]
Chr2:220283259 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.93= (p.Ser31=) single nucleotide variant not specified [RCV000154434] Chr2:219418555 [GRCh38]
Chr2:220283277 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001059931]|Primary dilated cardiomyopathy [RCV000154519]|Primary familial dilated cardiomyopathy [RCV002469028]|not provided [RCV000327525] Chr2:219423817 [GRCh38]
Chr2:220288539 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic
NM_001927.4(DES):c.635G>A (p.Arg212Gln) single nucleotide variant Cardiomyopathy [RCV001798502]|Cardiovascular phenotype [RCV002362812]|Desmin-related myofibrillar myopathy [RCV000229797]|Dilated cardiomyopathy 1I [RCV000307432]|Left ventricular noncompaction cardiomyopathy [RCV000157163]|Myofibrillar Myopathy, Dominant [RCV000406154]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000393436]|See cases [RCV001264391]|not provided [RCV000725364]|not specified [RCV000154696] Chr2:219420151 [GRCh38]
Chr2:220284873 [GRCh37]
Chr2:2q35
benign|likely benign|uncertain significance
NM_001927.4(DES):c.665G>A (p.Arg222His) single nucleotide variant Cardiovascular phenotype [RCV002362813]|Desmin-related myofibrillar myopathy [RCV000540698]|Dilated cardiomyopathy 1I [RCV000260200]|Dilated cardiomyopathy 1I [RCV003483525]|Myofibrillar Myopathy, Dominant [RCV000379116]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000324508]|not provided [RCV001657879]|not specified [RCV000154697] Chr2:219420276 [GRCh38]
Chr2:220284998 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001927.4(DES):c.250G>A (p.Gly84Ser) single nucleotide variant Cardiovascular phenotype [RCV002426711]|Desmin-related myofibrillar myopathy [RCV000474215]|not provided [RCV000724983]|not specified [RCV000150379] Chr2:219418712 [GRCh38]
Chr2:220283434 [GRCh37]
Chr2:2q35
conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.600del (p.Lys201fs) deletion Cardiovascular phenotype [RCV003362695]|Desmin-related myofibrillar myopathy [RCV002514995]|Primary dilated cardiomyopathy [RCV000155417] Chr2:219420116 [GRCh38]
Chr2:220284838 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_001927.4(DES):c.639+4_639+5del deletion Desmin-related myofibrillar myopathy [RCV002265630] Chr2:219420158..219420159 [GRCh38]
Chr2:220284880..220284881 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.237G>A (p.Thr79=) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002056029]|not provided [RCV000153149] Chr2:219418699 [GRCh38]
Chr2:220283421 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_001927.4(DES):c.1167G>T (p.Gln389His) single nucleotide variant not provided [RCV000179398] Chr2:219421483 [GRCh38]
Chr2:220286205 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1245-3T>G single nucleotide variant Cardiovascular phenotype [RCV000246989]|Desmin-related myofibrillar myopathy [RCV002515283]|not provided [RCV000179841] Chr2:219423774 [GRCh38]
Chr2:220288496 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1372-8C>T single nucleotide variant Desmin-related myofibrillar myopathy [RCV003765107]|not provided [RCV000180580] Chr2:219425941 [GRCh38]
Chr2:220290663 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_001927.4(DES):c.640-16G>A single nucleotide variant Desmin-related myofibrillar myopathy [RCV002054180]|Dilated cardiomyopathy 1I [RCV002492825]|not specified [RCV000183341] Chr2:219420235 [GRCh38]
Chr2:220284957 [GRCh37]
Chr2:2q35
benign|likely benign
NM_001927.4(DES):c.-44G>A single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265669]|Dilated cardiomyopathy 1I [RCV000333461]|Myofibrillar Myopathy, Dominant [RCV000275289]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000386055]|not specified [RCV000183342] Chr2:219418419 [GRCh38]
Chr2:220283141 [GRCh37]
Chr2:2q35
benign|likely benign
NM_001927.4(DES):c.-30_-18dup duplication not provided [RCV001529191]|not specified [RCV000183343] Chr2:219418432..219418433 [GRCh38]
Chr2:220283154..220283155 [GRCh37]
Chr2:2q35
pathogenic|benign
NM_001927.4(DES):c.680G>A (p.Arg227His) single nucleotide variant Cardiovascular phenotype [RCV002362941]|Desmin-related myofibrillar myopathy [RCV001055164]|Dilated cardiomyopathy 1I [RCV002485223]|not provided [RCV000727063] Chr2:219420291 [GRCh38]
Chr2:220285013 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.725T>A (p.Val242Glu) single nucleotide variant Desmin-related myofibrillar myopathy [RCV003765136]|not provided [RCV000183346] Chr2:219420336 [GRCh38]
Chr2:220285058 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.727C>T (p.His243Tyr) single nucleotide variant Cardiovascular phenotype [RCV002381603]|Desmin-related myofibrillar myopathy [RCV000473075]|Dilated cardiomyopathy 1I [RCV002478624]|not provided [RCV000183347] Chr2:219420338 [GRCh38]
Chr2:220285060 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.832C>T (p.Arg278Trp) single nucleotide variant Cardiovascular phenotype [RCV002433812]|Desmin-related myofibrillar myopathy [RCV000693194]|not provided [RCV000183349] Chr2:219420591 [GRCh38]
Chr2:220285313 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.883T>G (p.Trp295Gly) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001337313]|not provided [RCV000183350] Chr2:219420642 [GRCh38]
Chr2:220285364 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.976C>T (p.His326Tyr) single nucleotide variant Cardiomyopathy [RCV001798637]|Desmin-related myofibrillar myopathy [RCV000459000]|not provided [RCV000183352] Chr2:219420906 [GRCh38]
Chr2:220285628 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.1027G>A (p.Asp343Asn) single nucleotide variant Cardiomyopathy [RCV003486739]|Desmin-related myofibrillar myopathy [RCV000651546]|Dilated cardiomyopathy 1I [RCV002503715]|not provided [RCV000726231] Chr2:219421343 [GRCh38]
Chr2:220286065 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) single nucleotide variant Cardiovascular phenotype [RCV003298238]|Desmin-related myofibrillar myopathy [RCV000544077]|Dilated cardiomyopathy 1A [RCV001256941]|Dilated cardiomyopathy 1I [RCV002485224]|not provided [RCV001580010] Chr2:219421439 [GRCh38]
Chr2:220286161 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1205T>C (p.Ile402Thr) single nucleotide variant Cardiovascular phenotype [RCV002345640]|Desmin-related myofibrillar myopathy [RCV000802498]|Dilated cardiomyopathy 1I [RCV004786503] Chr2:219421521 [GRCh38]
Chr2:220286243 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) single nucleotide variant Cardiovascular phenotype [RCV002381604]|Desmin-related myofibrillar myopathy [RCV000532526]|Dilated cardiomyopathy 1I [RCV002265670]|Dilated cardiomyopathy 1I [RCV002492826]|not provided [RCV000656841] Chr2:219421559 [GRCh38]
Chr2:220286281 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance|not provided
NM_001927.4(DES):c.1280A>G (p.Asn427Ser) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002515347]|not provided [RCV000183357] Chr2:219423812 [GRCh38]
Chr2:220288534 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.146T>C (p.Val49Ala) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002513952]|not provided [RCV000183358] Chr2:219418608 [GRCh38]
Chr2:220283330 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.154C>A (p.Arg52Ser) single nucleotide variant Cardiovascular phenotype [RCV000251066]|Desmin-related myofibrillar myopathy [RCV000233855]|not provided [RCV000766841]|not specified [RCV000183359] Chr2:219418616 [GRCh38]
Chr2:220283338 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.166G>C (p.Val56Leu) single nucleotide variant Cardiovascular phenotype [RCV000617378]|Desmin-related myofibrillar myopathy [RCV000467504]|Dilated cardiomyopathy 1I [RCV002485225]|not provided [RCV000766842]|not specified [RCV000183360] Chr2:219418628 [GRCh38]
Chr2:220283350 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1371+1G>A single nucleotide variant Cardiovascular phenotype [RCV000622142]|Desmin-related myofibrillar myopathy [RCV000458158]|not provided [RCV000183362]|not specified [RCV000223904] Chr2:219425746 [GRCh38]
Chr2:220290468 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.1371+1G>C single nucleotide variant not provided [RCV000183363] Chr2:219425746 [GRCh38]
Chr2:220290468 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic
NM_001927.4(DES):c.1412A>C (p.Ter471Ser) single nucleotide variant not provided [RCV000183364] Chr2:219425989 [GRCh38]
Chr2:220290711 [GRCh37]
Chr2:2q35
likely pathogenic
NM_001927.4(DES):c.233G>T (p.Arg78Leu) single nucleotide variant Cardiovascular phenotype [RCV004020210]|Desmin-related myofibrillar myopathy [RCV000824328]|Dilated cardiomyopathy 1I [RCV002478625] Chr2:219418695 [GRCh38]
Chr2:220283417 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.295C>G (p.Gln99Glu) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000691921]|not provided [RCV000183367] Chr2:219418757 [GRCh38]
Chr2:220283479 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.299A>C (p.Glu100Ala) single nucleotide variant Cardiovascular phenotype [RCV002433813]|Desmin-related myofibrillar myopathy [RCV001852351]|not provided [RCV000183368] Chr2:219418761 [GRCh38]
Chr2:220283483 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.313C>T (p.Arg105Cys) single nucleotide variant Cardiovascular phenotype [RCV002321729]|Desmin-related myofibrillar myopathy [RCV001211522] Chr2:219418775 [GRCh38]
Chr2:220283497 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.364T>G (p.Tyr122Asp) single nucleotide variant not provided [RCV000183370] Chr2:219418826 [GRCh38]
Chr2:220283548 [GRCh37]
Chr2:2q35
likely pathogenic
NM_001927.4(DES):c.634C>T (p.Arg212Ter) single nucleotide variant Cardiovascular phenotype [RCV004020211]|Desmin-related myofibrillar myopathy [RCV001380936]|Dilated cardiomyopathy 1I [RCV002478626]|not provided [RCV000183373] Chr2:219420150 [GRCh38]
Chr2:220284872 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic
NM_001927.4(DES):c.833G>C (p.Arg278Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001342240]|not provided [RCV000183374] Chr2:219420592 [GRCh38]
Chr2:220285314 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1047G>A (p.Met349Ile) single nucleotide variant Desmin-related myofibrillar myopathy [RCV003765137]|not provided [RCV000183375] Chr2:219421363 [GRCh38]
Chr2:220286085 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1324A>G (p.Thr442Ala) single nucleotide variant not provided [RCV000183376] Chr2:219425698 [GRCh38]
Chr2:220290420 [GRCh37]
Chr2:2q35
pathogenic|uncertain significance
NM_001927.4(DES):c.358G>C (p.Ala120Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001852352]|not provided [RCV000183377] Chr2:219418820 [GRCh38]
Chr2:220283542 [GRCh37]
Chr2:2q35
pathogenic|uncertain significance
NM_001927.4(DES):c.924C>T (p.Asn308=) single nucleotide variant Cardiovascular phenotype [RCV002374459]|DES-related disorder [RCV003939974]|Desmin-related myofibrillar myopathy [RCV001088971]|Dilated cardiomyopathy 1I [RCV000328732]|Myofibrillar Myopathy, Dominant [RCV000383286]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000264452]|not provided [RCV000725277]|not specified [RCV000265821] Chr2:219420854 [GRCh38]
Chr2:220285576 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.1297C>A (p.Pro433Thr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000208119] Chr2:219425671 [GRCh38]
Chr2:220290393 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.643G>A (p.Val215Met) single nucleotide variant Cardiovascular phenotype [RCV000620253]|DES-related disorder [RCV003390956]|Desmin-related myofibrillar myopathy [RCV000651548]|Dilated cardiomyopathy 1I [RCV002467674]|Dilated cardiomyopathy 1I [RCV002485357]|Primary familial hypertrophic cardiomyopathy [RCV000208223]|not provided [RCV000725602]|not specified [RCV003330581] Chr2:219420254 [GRCh38]
Chr2:220284976 [GRCh37]
Chr2:2q35
pathogenic|likely benign|uncertain significance
NM_001927.4(DES):c.736-9G>A single nucleotide variant Desmin-related myofibrillar myopathy [RCV000524631] Chr2:219420486 [GRCh38]
Chr2:220285208 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.1234G>A (p.Glu412Lys) single nucleotide variant Primary dilated cardiomyopathy [RCV000208408] Chr2:219421550 [GRCh38]
Chr2:220286272 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.212C>T (p.Ala71Val) single nucleotide variant Cardiomyopathy [RCV000208029]|Desmin-related myofibrillar myopathy [RCV001297826] Chr2:219418674 [GRCh38]
Chr2:220283396 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.404C>T (p.Ala135Val) single nucleotide variant Cardiovascular phenotype [RCV002321829]|Desmin-related myofibrillar myopathy [RCV001079455]|not provided [RCV000725598]|not specified [RCV000217198] Chr2:219418866 [GRCh38]
Chr2:220283588 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.347A>T (p.Asn116Ile) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000651544]|not specified [RCV000217696] Chr2:219418809 [GRCh38]
Chr2:220283531 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.894G>A (p.Ser298=) single nucleotide variant Cardiovascular phenotype [RCV002444853]|Desmin-related myofibrillar myopathy [RCV000556100]|not provided [RCV001726047]|not specified [RCV000213833] Chr2:219420653 [GRCh38]
Chr2:220285375 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.656C>T (p.Thr219Ile) single nucleotide variant Cardiomyopathy [RCV000770168]|Cardiovascular phenotype [RCV002363072]|Desmin-related myofibrillar myopathy [RCV001084978]|not provided [RCV000726722]|not specified [RCV000217963] Chr2:219420267 [GRCh38]
Chr2:220284989 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.99C>T (p.Pro33=) single nucleotide variant Cardiomyopathy [RCV003486770]|Cardiovascular phenotype [RCV002381728]|DES-related disorder [RCV003929888]|Desmin-related myofibrillar myopathy [RCV001080097]|not provided [RCV000477613]|not specified [RCV000218133] Chr2:219418561 [GRCh38]
Chr2:220283283 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity
NM_001927.4(DES):c.376G>T (p.Val126Leu) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000820863]|not specified [RCV000214253] Chr2:219418838 [GRCh38]
Chr2:220283560 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1372-3dup duplication Cardiovascular phenotype [RCV002381742]|DES-related disorder [RCV003897477]|Desmin-related myofibrillar myopathy [RCV001440302]|not provided [RCV000824726]|not specified [RCV000220968] Chr2:219425942..219425943 [GRCh38]
Chr2:220290664..220290665 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.369del (p.Ile123fs) deletion Desmin-related myofibrillar myopathy [RCV001853441]|not specified [RCV000221238] Chr2:219418831 [GRCh38]
Chr2:220283553 [GRCh37]
Chr2:2q35
pathogenic|uncertain significance
NM_001927.4(DES):c.937G>A (p.Ala313Thr) single nucleotide variant Cardiovascular phenotype [RCV002444861]|Desmin-related myofibrillar myopathy [RCV000819601]|Dilated cardiomyopathy 1I [RCV003335234]|not provided [RCV001570755]|not specified [RCV000219149] Chr2:219420867 [GRCh38]
Chr2:220285589 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.639+13_639+15del microsatellite Desmin-related myofibrillar myopathy [RCV001467943]|not specified [RCV000221494] Chr2:219420165..219420167 [GRCh38]
Chr2:220284887..220284889 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.974G>A (p.Arg325Gln) single nucleotide variant Cardiovascular phenotype [RCV004020615]|Desmin-related myofibrillar myopathy [RCV000807006]|not specified [RCV000221526] Chr2:219420904 [GRCh38]
Chr2:220285626 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.853G>A (p.Ala285Thr) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000804446]|not specified [RCV000221598] Chr2:219420612 [GRCh38]
Chr2:220285334 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1353C>T (p.Ile451=) single nucleotide variant Cardiomyopathy [RCV001798700]|Cardiovascular phenotype [RCV000252451]|Desmin-related myofibrillar myopathy [RCV001085732]|not provided [RCV000725063]|not specified [RCV000219399] Chr2:219425727 [GRCh38]
Chr2:220290449 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.1038G>A (p.Met346Ile) single nucleotide variant Cardiovascular phenotype [RCV002392690]|Desmin-related myofibrillar myopathy [RCV000230628]|Dilated cardiomyopathy 1I [RCV002487064]|not provided [RCV004772880] Chr2:219421354 [GRCh38]
Chr2:220286076 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.218G>T (p.Arg73Leu) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000231650] Chr2:219418680 [GRCh38]
Chr2:220283402 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.524G>A (p.Arg175His) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000231969]|not provided [RCV002261017] Chr2:219418986 [GRCh38]
Chr2:220283708 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.449G>A (p.Arg150Gln) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001368093]|not provided [RCV002223198]|not specified [RCV000223735] Chr2:219418911 [GRCh38]
Chr2:220283633 [GRCh37]
Chr2:2q35
pathogenic|uncertain significance
NM_001927.4(DES):c.1013T>C (p.Leu338Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000227930] Chr2:219420943 [GRCh38]
Chr2:220285665 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.556G>T (p.Asp186Tyr) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000225879] Chr2:219419018 [GRCh38]
Chr2:220283740 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1310G>A (p.Gly437Asp) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000228426] Chr2:219425684 [GRCh38]
Chr2:220290406 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1159G>A (p.Glu387Lys) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000234622] Chr2:219421475 [GRCh38]
Chr2:220286197 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.410C>A (p.Ala137Asp) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000229186] Chr2:219418872 [GRCh38]
Chr2:220283594 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852535]|Cardiomyopathy [RCV001171066]|Desmin-related myofibrillar myopathy [RCV001855888]|not provided [RCV000757150] Chr2:219418827 [GRCh38]
Chr2:220283549 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.736-35C>A single nucleotide variant not provided [RCV000830636]|not specified [RCV000246024] Chr2:219420460 [GRCh38]
Chr2:220285182 [GRCh37]
Chr2:2q35
benign|likely benign
NM_001927.4(DES):c.286G>T (p.Ala96Ser) single nucleotide variant Cardiovascular phenotype [RCV000253402]|Desmin-related myofibrillar myopathy [RCV001211572]|Primary dilated cardiomyopathy [RCV003319190]|not provided [RCV000991884] Chr2:219418748 [GRCh38]
Chr2:220283470 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.*468G>T single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265740]|Dilated cardiomyopathy 1I [RCV000316561]|Myofibrillar Myopathy, Dominant [RCV000285808]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000340737]|not provided [RCV001618590] Chr2:219426458 [GRCh38]
Chr2:220291180 [GRCh37]
Chr2:2q35
benign|likely benign
NM_001927.4(DES):c.639G>A (p.Ala213=) single nucleotide variant Cardiovascular phenotype [RCV004024280]|Desmin-related myofibrillar myopathy [RCV000547694] Chr2:219420155 [GRCh38]
Chr2:220284877 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.-6G>A single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265737]|Dilated cardiomyopathy 1I [RCV000283203]|Myofibrillar Myopathy, Dominant [RCV000327635]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000289026]|not specified [RCV001293589] Chr2:219418457 [GRCh38]
Chr2:220283179 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.609A>C (p.Glu203Asp) single nucleotide variant Cardiovascular phenotype [RCV000246738]|Desmin-related myofibrillar myopathy [RCV001215575]|not provided [RCV001538107]|not specified [RCV004800364] Chr2:219420125 [GRCh38]
Chr2:220284847 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.579-38C>T single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265712]|Dilated cardiomyopathy 1I [RCV001660223]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001660224]|not provided [RCV000830418]|not specified [RCV000254468] Chr2:219420057 [GRCh38]
Chr2:220284779 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.637G>A (p.Ala213Thr) single nucleotide variant Cardiovascular phenotype [RCV003338638]|Desmin-related myofibrillar myopathy [RCV000702212]|not provided [RCV000522498] Chr2:219420153 [GRCh38]
Chr2:220284875 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.438C>G (p.Arg146=) single nucleotide variant Cardiovascular phenotype [RCV000247616] Chr2:219418900 [GRCh38]
Chr2:220283622 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.109C>T (p.Arg37Trp) single nucleotide variant Cardiovascular phenotype [RCV000250161]|Desmin-related myofibrillar myopathy [RCV001217854]|Dilated cardiomyopathy 1I [RCV002494794]|not provided [RCV000594311]|not specified [RCV003114438] Chr2:219418571 [GRCh38]
Chr2:220283293 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.*198G>A single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265738]|Dilated cardiomyopathy 1I [RCV000276898]|Myofibrillar Myopathy, Dominant [RCV000369044]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000333057] Chr2:219426188 [GRCh38]
Chr2:220290910 [GRCh37]
Chr2:2q35
benign|likely benign|uncertain significance
NM_001927.4(DES):c.*662G>A single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265744]|Dilated cardiomyopathy 1I [RCV000377719]|Myofibrillar Myopathy, Dominant [RCV000322638]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000267489]|not provided [RCV001778926] Chr2:219426652 [GRCh38]
Chr2:220291374 [GRCh37]
Chr2:2q35
benign|likely benign
NM_001927.4(DES):c.*588G>A single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265743]|Dilated Cardiomyopathy, Dominant [RCV000356739]|Myofibrillar Myopathy, Dominant [RCV000352997]|Scapuloperoneal weakness [RCV000316883] Chr2:219426578 [GRCh38]
Chr2:220291300 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.*559G>A single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265742]|Dilated cardiomyopathy 1I [RCV000371046]|Myofibrillar Myopathy, Dominant [RCV000311255]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000307082] Chr2:219426549 [GRCh38]
Chr2:220291271 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_001927.4(DES):c.735G>A (p.Glu245=) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001321146]|not provided [RCV000489159] Chr2:219420346 [GRCh38]
Chr2:220285068 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.210G>C (p.Arg70=) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002059102]|not provided [RCV000725053]|not specified [RCV000302897] Chr2:219418672 [GRCh38]
Chr2:220283394 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.184G>A (p.Gly62Arg) single nucleotide variant Cardiovascular phenotype [RCV002411171]|Desmin-related myofibrillar myopathy [RCV000686290]|not provided [RCV000726280] Chr2:219418646 [GRCh38]
Chr2:220283368 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.708C>T (p.Ile236=) single nucleotide variant Cardiovascular phenotype [RCV000617379]|Desmin-related myofibrillar myopathy [RCV001431773]|not provided [RCV000339337] Chr2:219420319 [GRCh38]
Chr2:220285041 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.1271C>T (p.Ser424Phe) single nucleotide variant not provided [RCV000274998] Chr2:219423803 [GRCh38]
Chr2:220288525 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1223del (p.Leu408fs) deletion not provided [RCV000322209] Chr2:219421539 [GRCh38]
Chr2:220286261 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic
NM_001927.4(DES):c.-74C>T single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265736]|Dilated cardiomyopathy 1I [RCV000297648]|Myofibrillar Myopathy, Dominant [RCV000354916]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000262437] Chr2:219418389 [GRCh38]
Chr2:220283111 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.*428G>C single nucleotide variant Desmin-related myofibrillar myopathy [RCV002265739]|Dilated cardiomyopathy 1I [RCV000320189]|Myofibrillar Myopathy, Dominant [RCV000274488]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000374631] Chr2:219426418 [GRCh38]
Chr2:220291140 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1256C>T (p.Pro419Leu) single nucleotide variant Desmin-related myofibrillar myopathy [RCV003765652]|not provided [RCV000287300] Chr2:219423788 [GRCh38]
Chr2:220288510 [GRCh37]
Chr2:2q35
pathogenic|uncertain significance
NM_001927.4(DES):c.579-5C>T single nucleotide variant not provided [RCV000353932] Chr2:219420090 [GRCh38]
Chr2:220284812 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.97C>T (p.Pro33Ser) single nucleotide variant not provided [RCV000355468] Chr2:219418559 [GRCh38]
Chr2:220283281 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.743G>A (p.Arg248His) single nucleotide variant Desmin-related myofibrillar myopathy [RCV003765691]|not provided [RCV000391221] Chr2:219420502 [GRCh38]
Chr2:220285224 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) single nucleotide variant Cardiovascular phenotype [RCV000617457]|Desmin-related myofibrillar myopathy [RCV000694336]|Dilated cardiomyopathy 1I [RCV002487276]|not provided [RCV000357490]|not specified [RCV003226276] Chr2:219423818 [GRCh38]
Chr2:220288540 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1158C>T (p.Arg386=) single nucleotide variant Cardiomyopathy [RCV001171070]|Cardiovascular phenotype [RCV002365317]|Desmin-related myofibrillar myopathy [RCV000651545]|not provided [RCV000725757] Chr2:219421474 [GRCh38]
Chr2:220286196 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.822C>T (p.Leu274=) single nucleotide variant Cardiovascular phenotype [RCV002429223]|Desmin-related myofibrillar myopathy [RCV001078951]|not provided [RCV000292844] Chr2:219420581 [GRCh38]
Chr2:220285303 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.1030T>C (p.Ser344Pro) single nucleotide variant Desmin-related myofibrillar myopathy [RCV002519324]|not provided [RCV000326408] Chr2:219421346 [GRCh38]
Chr2:220286068 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.944G>A (p.Arg315His) single nucleotide variant Cardiovascular phenotype [RCV002374483]|Desmin-related myofibrillar myopathy [RCV001373833]|not provided [RCV000401481] Chr2:219420874 [GRCh38]
Chr2:220285596 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.30C>A (p.Arg10=) single nucleotide variant not provided [RCV000295730] Chr2:219418492 [GRCh38]
Chr2:220283214 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.567G>C (p.Arg189=) single nucleotide variant not provided [RCV000402143] Chr2:219419029 [GRCh38]
Chr2:220283751 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.-7C>G single nucleotide variant Dilated cardiomyopathy 1I [RCV001330868]|not provided [RCV000726440]|not specified [RCV000297231] Chr2:219418456 [GRCh38]
Chr2:220283178 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.373A>T (p.Lys125Ter) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000700283]|not provided [RCV000261318] Chr2:219418835 [GRCh38]
Chr2:220283557 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000810748]|not provided [RCV000296486] Chr2:219425988 [GRCh38]
Chr2:220290710 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.1213del (p.Tyr405fs) deletion Desmin-related myofibrillar myopathy [RCV000696661]|not provided [RCV000283285] Chr2:219421529 [GRCh38]
Chr2:220286251 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.1180G>A (p.Val394Met) single nucleotide variant Cardiomyopathy [RCV001171071]|Cardiovascular phenotype [RCV003352824]|DES-related disorder [RCV004742370]|Desmin-related myofibrillar myopathy [RCV001441657]|not provided [RCV000335144] Chr2:219421496 [GRCh38]
Chr2:220286218 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.25C>G (p.Gln9Glu) single nucleotide variant not provided [RCV000334577] Chr2:219418487 [GRCh38]
Chr2:220283209 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.768A>G (p.Glu256=) single nucleotide variant not provided [RCV000405432] Chr2:219420527 [GRCh38]
Chr2:220285249 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.817G>T (p.Ala273Ser) single nucleotide variant Desmin-related myofibrillar myopathy [RCV001313664]|not provided [RCV000408094] Chr2:219420576 [GRCh38]
Chr2:220285298 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.802C>G (p.Pro268Ala) single nucleotide variant Desmin-related myofibrillar myopathy [RCV000531257]|not provided [RCV001529745] Chr2:219420561 [GRCh38]
Chr2:220285283 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3
likely pathogenic
NM_001927.4(DES):c.1231_1237del (p.Gly411fs) deletion not provided [RCV001781638] Chr2:219421546..219421552 [GRCh38]
Chr2:220286268..220286274 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.735+2T>G single nucleotide variant Desmin-related myofibrillar myopathy [RCV002283933] Chr2:219420348 [GRCh38]
Chr2:220285070 [GRCh37]
Chr2:2q35
likely pathogenic
NM_001927.4(DES):c.728A>G (p.His243Arg) single nucleotide variant Cardiovascular phenotype [RCV002384016]|Desmin-related myofibrillar myopathy [RCV001853673]|Dilated cardiomyopathy 1I [RCV001139742]|Dilated cardiomyopathy 1I [RCV002481724]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001139744]|not provided [RCV000523746] Chr2:219420339 [GRCh38]
Chr2:220285061 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1275C>T (p.Ala425=) single nucleotide variant not provided [RCV000598028] Chr2:219423807 [GRCh38]
Chr2:220288529 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001927.4(DES):c.167T>A (p.Val56Glu) sin