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
Description: Exhibits cytoskeletal protein binding activity and identical protein binding activity. Involved in intermediate filament organization. Localizes to several cellular components, including intercalated disc; myofibril; and sarcolemma. Predicted to colocalize with intermediate filament. 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
Also known as: ARVC7; ARVD7; cardiomyopathy, dilated 1F (autosomal dominant); 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 Genes
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
GRCh38.p13 Ensembl2219,418,377 - 219,426,734 (+)EnsemblGRCh38hg38GRCh38
GRCh382219,418,377 - 219,426,734 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372220,283,099 - 220,291,461 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,991,343 - 219,999,705 (+)NCBINCBI36hg18NCBI36
Build 342220,108,603 - 220,116,964NCBI
Celera2214,053,115 - 214,061,476 (+)NCBI
Cytogenetic Map2q35NCBI
HuRef2212,136,136 - 212,144,500 (+)NCBIHuRef
CHM1_12220,288,920 - 220,297,282 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(R)-adrenaline  (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-acetamidofluorene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (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)
all-trans-retinoic acid  (EXP)
amitriptyline  (ISO)
ammonium chloride  (ISO)
apocynin  (ISO)
arachidonic acid  (ISO)
artesunate  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
boric acid  (EXP)
bucladesine  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
celecoxib  (EXP)
chromium(6+)  (ISO)
clodronic acid  (ISO)
clothianidin  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (ISO)
DDT  (ISO)
Deoxycorticosterone acetate  (ISO)
desferrioxamine B  (EXP)
dexamethasone  (ISO)
diallyl trisulfide  (EXP)
dibenziodolium  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
etoposide  (EXP)
filipin III  (ISO)
folic acid  (ISO)
furan  (ISO)
heparin  (ISO)
homocysteine  (ISO)
hydrogen peroxide  (EXP)
isoflavones  (ISO)
levetiracetam  (ISO)
losartan  (ISO)
medroxyprogesterone acetate  (EXP,ISO)
methotrexate  (EXP)
methyl beta-cyclodextrin  (ISO)
mycophenolic acid  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
Nonylphenol  (ISO)
Pachymic acid  (ISO)
paracetamol  (ISO)
PhIP  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
quercetin  (ISO)
resveratrol  (ISO)
rosmarinic acid  (ISO)
selenium atom  (EXP)
sildenafil citrate  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (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)
tributylstannane  (EXP)
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

Molecular Function

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

Human Phenotype
Abnormal EKG  (IAGP)
Abnormality of neutrophils  (IAGP)
Adult onset  (IAGP)
Areflexia of lower limbs  (IAGP)
Atrioventricular block  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial muscle weakness  (IAGP)
Bradycardia  (IAGP)
Bulbar palsy  (IAGP)
Concentric hypertrophic cardiomyopathy  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Diarrhea  (IAGP)
Difficulty walking  (IAGP)
Dilated cardiomyopathy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Elevated serum creatine kinase  (IAGP)
EMG abnormality  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Facial palsy  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hyporeflexia of lower limbs  (IAGP)
Late-onset proximal muscle weakness  (IAGP)
Lipoatrophy  (IAGP)
Loss of ability to walk  (IAGP)
Myopathy  (IAGP)
Neck flexor weakness  (IAGP)
Neck muscle weakness  (IAGP)
Palmoplantar keratoderma  (IAGP)
Peroneal muscle atrophy  (IAGP)
Progressive muscle weakness  (IAGP)
Reduced systolic function  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Scapuloperoneal weakness  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shoulder girdle muscle atrophy  (IAGP)
Spinal rigidity  (IAGP)
Sudden cardiac death  (IAGP)
Supraventricular arrhythmia  (IAGP)
Talipes equinovarus  (IAGP)
Third degree atrioventricular block  (IAGP)
Thoracic kyphoscoliosis  (IAGP)
Weakness of facial musculature  (IAGP)
References

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:18691435   PMID:19005210   PMID:19165527   PMID:19252475   PMID:19460759   PMID:19473514   PMID:19763525   PMID:19879535   PMID:19913121   PMID:20031618   PMID:20133133   PMID:20171226  
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: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: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:28427417   PMID:28470624   PMID:28514442   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:31835587   PMID:32296183   PMID:32520607   PMID:32814053   PMID:33253282  


Genomics

Comparative Map Data
DES
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2219,418,377 - 219,426,734 (+)EnsemblGRCh38hg38GRCh38
GRCh382219,418,377 - 219,426,734 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372220,283,099 - 220,291,461 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,991,343 - 219,999,705 (+)NCBINCBI36hg18NCBI36
Build 342220,108,603 - 220,116,964NCBI
Celera2214,053,115 - 214,061,476 (+)NCBI
Cytogenetic Map2q35NCBI
HuRef2212,136,136 - 212,144,500 (+)NCBIHuRef
CHM1_12220,288,920 - 220,297,282 (+)NCBICHM1_1
Des
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,336,936 - 75,345,223 (+)NCBIGRCm39mm39
GRCm38175,360,292 - 75,368,579 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,360,329 - 75,368,579 (+)EnsemblGRCm38mm10GRCm38
MGSCv37175,356,919 - 75,364,291 (+)NCBIGRCm37mm9NCBIm37
MGSCv36175,243,492 - 75,250,864 (+)NCBImm8
Celera175,850,928 - 75,858,300 (+)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.85NCBI
Des
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.12B225,266,081 - 225,274,446 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,266,261 - 225,273,604 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B106,675,761 - 106,684,129 (+)NCBIMhudiblu_PPA_v0panPan3
DES
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3725,933,455 - 25,940,985 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13725,933,525 - 25,939,910 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Des
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365691,807,902 - 1,814,936 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DES
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,427,103 - 121,435,424 (+)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,312,348 - 105,320,869 (+)NCBI
Des
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248235,624,958 - 5,632,234 (-)NCBI

Position Markers
D2S1596E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,291,197 - 220,291,308UniSTSGRCh37
Build 362219,999,441 - 219,999,552RGDNCBI36
Celera2214,061,213 - 214,061,324RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map13q13.3UniSTS
HuRef2212,144,236 - 212,144,347UniSTS
GDB:181243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,286,881 - 220,287,086UniSTSGRCh37
Build 362219,995,125 - 219,995,330RGDNCBI36
Celera2214,056,897 - 214,057,102RGD
Cytogenetic Map2q35UniSTS
G67372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,285,237 - 220,285,631UniSTSGRCh37
Build 362219,993,481 - 219,993,875RGDNCBI36
Celera2214,055,253 - 214,055,647RGD
Cytogenetic Map2q35UniSTS
HuRef2212,138,274 - 212,138,668UniSTS
PMC209322P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,283,185 - 220,283,565UniSTSGRCh37
Build 362219,991,429 - 219,991,809RGDNCBI36
Celera2214,053,201 - 214,053,581RGD
Cytogenetic Map2q35UniSTS
HuRef2212,136,222 - 212,136,602UniSTS
ECD00257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,289,965 - 220,290,883UniSTSGRCh37
Build 362219,998,209 - 219,999,127RGDNCBI36
Celera2214,059,981 - 214,060,899RGD
Cytogenetic Map2q35UniSTS
HuRef2212,143,004 - 212,143,922UniSTS
ECD00920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,290,940 - 220,291,824UniSTSGRCh37
Build 362219,999,184 - 220,000,068RGDNCBI36
Celera2214,060,956 - 214,061,839RGD
Cytogenetic Map2q35UniSTS
HuRef2212,143,979 - 212,144,863UniSTS
ECD09041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,281,784 - 220,282,422UniSTSGRCh37
Build 362219,990,028 - 219,990,666RGDNCBI36
Celera2214,051,800 - 214,052,438RGD
Cytogenetic Map2q35UniSTS
HuRef2212,134,821 - 212,135,459UniSTS
ECD09257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,282,455 - 220,283,088UniSTSGRCh37
Build 362219,990,699 - 219,991,332RGDNCBI36
Celera2214,052,471 - 214,053,104RGD
Cytogenetic Map2q35UniSTS
HuRef2212,135,492 - 212,136,125UniSTS
ECD10420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,283,839 - 220,284,441UniSTSGRCh37
Build 362219,992,083 - 219,992,685RGDNCBI36
Celera2214,053,855 - 214,054,457RGD
Cytogenetic Map2q35UniSTS
HuRef2212,136,876 - 212,137,478UniSTS
ECD13367  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,285,871 - 220,286,390UniSTSGRCh37
Build 362219,994,115 - 219,994,634RGDNCBI36
Celera2214,055,887 - 214,056,406RGD
Cytogenetic Map2q35UniSTS
HuRef2212,138,908 - 212,139,427UniSTS
ECD14130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,284,626 - 220,285,126UniSTSGRCh37
Build 362219,992,870 - 219,993,370RGDNCBI36
Celera2214,054,642 - 214,055,142RGD
Cytogenetic Map2q35UniSTS
HuRef2212,137,663 - 212,138,163UniSTS
ECD14131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,287,627 - 220,288,127UniSTSGRCh37
Build 362219,995,871 - 219,996,371RGDNCBI36
Celera2214,057,643 - 214,058,143RGD
Cytogenetic Map2q35UniSTS
HuRef2212,140,666 - 212,141,166UniSTS
ECD14307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,285,189 - 220,285,685UniSTSGRCh37
Build 362219,993,433 - 219,993,929RGDNCBI36
Celera2214,055,205 - 214,055,701RGD
Cytogenetic Map2q35UniSTS
HuRef2212,138,226 - 212,138,722UniSTS
ECD14535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,283,308 - 220,283,799UniSTSGRCh37
Build 362219,991,552 - 219,992,043RGDNCBI36
Celera2214,053,324 - 214,053,815RGD
Cytogenetic Map2q35UniSTS
HuRef2212,136,345 - 212,136,836UniSTS
ECD15416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,288,449 - 220,288,919UniSTSGRCh37
Build 362219,996,693 - 219,997,163RGDNCBI36
Celera2214,058,465 - 214,058,935RGD
Cytogenetic Map2q35UniSTS
HuRef2212,141,488 - 212,141,958UniSTS
ECD15445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,288,978 - 220,289,447UniSTSGRCh37
Build 362219,997,222 - 219,997,691RGDNCBI36
Celera2214,058,994 - 214,059,463RGD
Cytogenetic Map2q35UniSTS
HuRef2212,142,017 - 212,142,486UniSTS
ECD24315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,286,697 - 220,286,840UniSTSGRCh37
Build 362219,994,941 - 219,995,084RGDNCBI36
Celera2214,056,713 - 214,056,856RGD
Cytogenetic Map2q35UniSTS
HuRef2212,139,734 - 212,139,877UniSTS
REN52746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,281,306 - 220,281,550UniSTSGRCh37
Build 362219,989,550 - 219,989,794RGDNCBI36
Celera2214,051,322 - 214,051,566RGD
Cytogenetic Map2q35UniSTS
HuRef2212,134,343 - 212,134,587UniSTS
REN52747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,281,531 - 220,281,785UniSTSGRCh37
Build 362219,989,775 - 219,990,029RGDNCBI36
Celera2214,051,547 - 214,051,801RGD
Cytogenetic Map2q35UniSTS
HuRef2212,134,568 - 212,134,822UniSTS
REN52748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,281,746 - 220,281,970UniSTSGRCh37
Build 362219,989,990 - 219,990,214RGDNCBI36
Celera2214,051,762 - 214,051,986RGD
Cytogenetic Map2q35UniSTS
HuRef2212,134,783 - 212,135,007UniSTS
REN52749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,281,937 - 220,282,192UniSTSGRCh37
Build 362219,990,181 - 219,990,436RGDNCBI36
Celera2214,051,953 - 214,052,208RGD
Cytogenetic Map2q35UniSTS
HuRef2212,134,974 - 212,135,229UniSTS
REN52750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,282,169 - 220,282,435UniSTSGRCh37
Build 362219,990,413 - 219,990,679RGDNCBI36
Celera2214,052,185 - 214,052,451RGD
Cytogenetic Map2q35UniSTS
HuRef2212,135,206 - 212,135,472UniSTS
REN52751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,282,410 - 220,282,666UniSTSGRCh37
Build 362219,990,654 - 219,990,910RGDNCBI36
Celera2214,052,426 - 214,052,682RGD
Cytogenetic Map2q35UniSTS
HuRef2212,135,447 - 212,135,703UniSTS
REN52752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,282,586 - 220,282,851UniSTSGRCh37
Build 362219,990,830 - 219,991,095RGDNCBI36
Celera2214,052,602 - 214,052,867RGD
Cytogenetic Map2q35UniSTS
HuRef2212,135,623 - 212,135,888UniSTS
REN52753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,282,828 - 220,283,082UniSTSGRCh37
Build 362219,991,072 - 219,991,326RGDNCBI36
Celera2214,052,844 - 214,053,098RGD
Cytogenetic Map2q35UniSTS
HuRef2212,135,865 - 212,136,119UniSTS
REN52754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,283,058 - 220,283,327UniSTSGRCh37
Build 362219,991,302 - 219,991,571RGDNCBI36
Celera2214,053,074 - 214,053,343RGD
Cytogenetic Map2q35UniSTS
HuRef2212,136,095 - 212,136,364UniSTS
REN52755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,283,307 - 220,283,567UniSTSGRCh37
Build 362219,991,551 - 219,991,811RGDNCBI36
Celera2214,053,323 - 214,053,583RGD
Cytogenetic Map2q35UniSTS
HuRef2212,136,344 - 212,136,604UniSTS
REN52756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,283,551 - 220,283,799UniSTSGRCh37
Build 362219,991,795 - 219,992,043RGDNCBI36
Celera2214,053,567 - 214,053,815RGD
Cytogenetic Map2q35UniSTS
HuRef2212,136,588 - 212,136,836UniSTS
REN52757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,283,774 - 220,284,018UniSTSGRCh37
Build 362219,992,018 - 219,992,262RGDNCBI36
Celera2214,053,790 - 214,054,034RGD
Cytogenetic Map2q35UniSTS
HuRef2212,136,811 - 212,137,055UniSTS
REN52758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,283,993 - 220,284,217UniSTSGRCh37
Build 362219,992,237 - 219,992,461RGDNCBI36
Celera2214,054,009 - 214,054,233RGD
Cytogenetic Map2q35UniSTS
HuRef2212,137,030 - 212,137,254UniSTS
REN52759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,284,190 - 220,284,434UniSTSGRCh37
Build 362219,992,434 - 219,992,678RGDNCBI36
Celera2214,054,206 - 214,054,450RGD
Cytogenetic Map2q35UniSTS
HuRef2212,137,227 - 212,137,471UniSTS
REN52760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,284,416 - 220,284,689UniSTSGRCh37
Build 362219,992,660 - 219,992,933RGDNCBI36
Celera2214,054,432 - 214,054,705RGD
Cytogenetic Map2q35UniSTS
HuRef2212,137,453 - 212,137,726UniSTS
REN52761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,284,686 - 220,284,960UniSTSGRCh37
Build 362219,992,930 - 219,993,204RGDNCBI36
Celera2214,054,702 - 214,054,976RGD
Cytogenetic Map2q35UniSTS
HuRef2212,137,723 - 212,137,997UniSTS
REN52762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,284,941 - 220,285,172UniSTSGRCh37
Build 362219,993,185 - 219,993,416RGDNCBI36
Celera2214,054,957 - 214,055,188RGD
Cytogenetic Map2q35UniSTS
HuRef2212,137,978 - 212,138,209UniSTS
REN52763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,285,156 - 220,285,381UniSTSGRCh37
Build 362219,993,400 - 219,993,625RGDNCBI36
Celera2214,055,172 - 214,055,397RGD
Cytogenetic Map2q35UniSTS
HuRef2212,138,193 - 212,138,418UniSTS
REN52764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,285,357 - 220,285,624UniSTSGRCh37
Build 362219,993,601 - 219,993,868RGDNCBI36
Celera2214,055,373 - 214,055,640RGD
Cytogenetic Map2q35UniSTS
HuRef2212,138,394 - 212,138,661UniSTS
REN52765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,285,619 - 220,285,868UniSTSGRCh37
Build 362219,993,863 - 219,994,112RGDNCBI36
Celera2214,055,635 - 214,055,884RGD
Cytogenetic Map2q35UniSTS
HuRef2212,138,656 - 212,138,905UniSTS
REN52766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,285,856 - 220,286,108UniSTSGRCh37
Build 362219,994,100 - 219,994,352RGDNCBI36
Celera2214,055,872 - 214,056,124RGD
Cytogenetic Map2q35UniSTS
HuRef2212,138,893 - 212,139,145UniSTS
REN52767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,286,089 - 220,286,340UniSTSGRCh37
Build 362219,994,333 - 219,994,584RGDNCBI36
Celera2214,056,105 - 214,056,356RGD
Cytogenetic Map2q35UniSTS
HuRef2212,139,126 - 212,139,377UniSTS
REN52768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,286,156 - 220,286,390UniSTSGRCh37
Build 362219,994,400 - 219,994,634RGDNCBI36
Celera2214,056,172 - 214,056,406RGD
Cytogenetic Map2q35UniSTS
HuRef2212,139,193 - 212,139,427UniSTS
REN52769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,286,364 - 220,286,607UniSTSGRCh37
Build 362219,994,608 - 219,994,851RGDNCBI36
Celera2214,056,380 - 214,056,623RGD
Cytogenetic Map2q35UniSTS
HuRef2212,139,401 - 212,139,644UniSTS
REN52770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,286,586 - 220,286,836UniSTSGRCh37
Build 362219,994,830 - 219,995,080RGDNCBI36
Celera2214,056,602 - 214,056,852RGD
Cytogenetic Map2q35UniSTS
HuRef2212,139,623 - 212,139,873UniSTS
REN52771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,286,819 - 220,287,087UniSTSGRCh37
Build 362219,995,063 - 219,995,331RGDNCBI36
Celera2214,056,835 - 214,057,103RGD
Cytogenetic Map2q35UniSTS
HuRef2212,139,856 - 212,140,124UniSTS
REN52772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,286,959 - 220,287,187UniSTSGRCh37
Build 362219,995,203 - 219,995,431RGDNCBI36
Celera2214,056,975 - 214,057,203RGD
Cytogenetic Map2q35UniSTS
HuRef2212,139,996 - 212,140,224UniSTS
REN52773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,287,475 - 220,287,705UniSTSGRCh37
Build 362219,995,719 - 219,995,949RGDNCBI36
Celera2214,057,491 - 214,057,721RGD
Cytogenetic Map2q35UniSTS
HuRef2212,140,514 - 212,140,744UniSTS
REN52774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,287,678 - 220,287,926UniSTSGRCh37
Build 362219,995,922 - 219,996,170RGDNCBI36
Celera2214,057,694 - 214,057,942RGD
Cytogenetic Map2q35UniSTS
HuRef2212,140,717 - 212,140,965UniSTS
REN52775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,287,906 - 220,288,167UniSTSGRCh37
Build 362219,996,150 - 219,996,411RGDNCBI36
Celera2214,057,922 - 214,058,183RGD
Cytogenetic Map2q35UniSTS
HuRef2212,140,945 - 212,141,206UniSTS
REN52776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,288,450 - 220,288,674UniSTSGRCh37
Build 362219,996,694 - 219,996,918RGDNCBI36
Celera2214,058,466 - 214,058,690RGD
Cytogenetic Map2q35UniSTS
HuRef2212,141,489 - 212,141,713UniSTS
REN52777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,288,653 - 220,288,904UniSTSGRCh37
Build 362219,996,897 - 219,997,148RGDNCBI36
Celera2214,058,669 - 214,058,920RGD
Cytogenetic Map2q35UniSTS
HuRef2212,141,692 - 212,141,943UniSTS
REN52778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,288,898 - 220,289,146UniSTSGRCh37
Build 362219,997,142 - 219,997,390RGDNCBI36
Celera2214,058,914 - 214,059,162RGD
Cytogenetic Map2q35UniSTS
HuRef2212,141,937 - 212,142,185UniSTS
REN52779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,289,121 - 220,289,370UniSTSGRCh37
Build 362219,997,365 - 219,997,614RGDNCBI36
Celera2214,059,137 - 214,059,386RGD
Cytogenetic Map2q35UniSTS
HuRef2212,142,160 - 212,142,409UniSTS
REN52780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,289,347 - 220,289,594UniSTSGRCh37
Build 362219,997,591 - 219,997,838RGDNCBI36
Celera2214,059,363 - 214,059,610RGD
Cytogenetic Map2q35UniSTS
HuRef2212,142,386 - 212,142,633UniSTS
REN52781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,289,387 - 220,289,623UniSTSGRCh37
Build 362219,997,631 - 219,997,867RGDNCBI36
Celera2214,059,403 - 214,059,639RGD
Cytogenetic Map2q35UniSTS
HuRef2212,142,426 - 212,142,662UniSTS
REN52782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,289,873 - 220,290,097UniSTSGRCh37
Build 362219,998,117 - 219,998,341RGDNCBI36
Celera2214,059,889 - 214,060,113RGD
Cytogenetic Map2q35UniSTS
HuRef2212,142,912 - 212,143,136UniSTS
REN52783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,290,070 - 220,290,336UniSTSGRCh37
Build 362219,998,314 - 219,998,580RGDNCBI36
Celera2214,060,086 - 214,060,352RGD
Cytogenetic Map2q35UniSTS
HuRef2212,143,109 - 212,143,375UniSTS
REN52784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,290,316 - 220,290,561UniSTSGRCh37
Build 362219,998,560 - 219,998,805RGDNCBI36
Celera2214,060,332 - 214,060,577RGD
Cytogenetic Map2q35UniSTS
HuRef2212,143,355 - 212,143,600UniSTS
REN52785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,290,547 - 220,290,797UniSTSGRCh37
Build 362219,998,791 - 219,999,041RGDNCBI36
Celera2214,060,563 - 214,060,813RGD
Cytogenetic Map2q35UniSTS
HuRef2212,143,586 - 212,143,836UniSTS
REN52786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,290,767 - 220,291,037UniSTSGRCh37
Build 362219,999,011 - 219,999,281RGDNCBI36
Celera2214,060,783 - 214,061,053RGD
Cytogenetic Map2q35UniSTS
HuRef2212,143,806 - 212,144,076UniSTS
REN52787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,291,022 - 220,291,261UniSTSGRCh37
Build 362219,999,266 - 219,999,505RGDNCBI36
Celera2214,061,038 - 214,061,277RGD
Cytogenetic Map2q35UniSTS
HuRef2212,144,061 - 212,144,300UniSTS
REN52788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,291,247 - 220,291,492UniSTSGRCh37
Build 362219,999,491 - 219,999,736RGDNCBI36
Celera2214,061,263 - 214,061,507RGD
Cytogenetic Map2q35UniSTS
HuRef2212,144,286 - 212,144,531UniSTS
REN52789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,291,470 - 220,291,698UniSTSGRCh37
Build 362219,999,714 - 219,999,942RGDNCBI36
Celera2214,061,485 - 214,061,713RGD
Cytogenetic Map2q35UniSTS
HuRef2212,144,509 - 212,144,737UniSTS
REN52790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,291,614 - 220,291,852UniSTSGRCh37
Build 362219,999,858 - 220,000,096RGDNCBI36
Celera2214,061,629 - 214,061,867RGD
Cytogenetic Map2q35UniSTS
HuRef2212,144,653 - 212,144,891UniSTS
RH67933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,291,176 - 220,291,280UniSTSGRCh37
Build 362219,999,420 - 219,999,524RGDNCBI36
Celera2214,061,192 - 214,061,296RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map13q13.3UniSTS
HuRef2212,144,215 - 212,144,319UniSTS
GeneMap99-GB4 RH Map2682.63UniSTS
NCBI RH Map21772.3UniSTS
G15847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,291,229 - 220,291,438UniSTSGRCh37
Build 362219,999,473 - 219,999,682RGDNCBI36
Celera2214,061,245 - 214,061,453RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map13q13.3UniSTS
HuRef2212,144,268 - 212,144,477UniSTS
STS-W67447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,291,126 - 220,291,335UniSTSGRCh37
Build 362219,999,370 - 219,999,579RGDNCBI36
Celera2214,061,142 - 214,061,351RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map13q13.3UniSTS
HuRef2212,144,165 - 212,144,374UniSTS
NCBI RH Map21759.0UniSTS
stSG632973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,281,189 - 220,282,430UniSTSGRCh37
Build 362219,989,433 - 219,990,674RGDNCBI36
Celera2214,051,205 - 214,052,446RGD
HuRef2212,134,226 - 212,135,467UniSTS
stSG632975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,283,891 - 220,285,297UniSTSGRCh37
Build 362219,992,135 - 219,993,541RGDNCBI36
Celera2214,053,907 - 214,055,313RGD
HuRef2212,136,928 - 212,138,334UniSTS
stSG632976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,285,278 - 220,286,761UniSTSGRCh37
Build 362219,993,522 - 219,995,005RGDNCBI36
Celera2214,055,294 - 214,056,777RGD
HuRef2212,138,315 - 212,139,798UniSTS
stSG632977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,286,876 - 220,288,062UniSTSGRCh37
Build 362219,995,120 - 219,996,306RGDNCBI36
Celera2214,056,892 - 214,058,078RGD
HuRef2212,139,913 - 212,141,101UniSTS
stSG632978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,288,043 - 220,289,189UniSTSGRCh37
Build 362219,996,287 - 219,997,433RGDNCBI36
Celera2214,058,059 - 214,059,205RGD
HuRef2212,141,082 - 212,142,228UniSTS
stSG632979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,289,170 - 220,290,413UniSTSGRCh37
Build 362219,997,414 - 219,998,657RGDNCBI36
Celera2214,059,186 - 214,060,429RGD
HuRef2212,142,209 - 212,143,452UniSTS
stSG632980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,290,394 - 220,291,495UniSTSGRCh37
Build 362219,998,638 - 219,999,739RGDNCBI36
Celera2214,060,410 - 214,061,510RGD
HuRef2212,143,433 - 212,144,534UniSTS
D10S215  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q24UniSTS
Cytogenetic Map2q35UniSTS
D10S605  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2q35UniSTS
TNG Radiation Hybrid Map1038837.0UniSTS
Stanford-G3 RH Map103621.0UniSTS
NCBI RH Map10946.6UniSTS
GeneMap99-G3 RH Map103597.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1744
Count of miRNA genes:737
Interacting mature miRNAs:867
Transcripts:ENST00000373960, ENST00000477226, ENST00000483395, ENST00000492726
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1707 1591 14 12 57 1 1545 2089 2 23 455 31 12 83 1466
Medium 582 808 940 160 542 58 2355 50 1087 90 814 1239 102 1035 1251 2
Low 66 579 639 348 713 301 372 18 2546 210 119 151 52 86 71 2
Below cutoff 51 4 90 72 89 74 40 22 58 67 41 106 4 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC053503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF137053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF167579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF189280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF189281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF486807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF487828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF521879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF527578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL541778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY083345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY114212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY125465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY816189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY816190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY816191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ941246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ104335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ104336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ104337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ301782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF617312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX114779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX114780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF616509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373960   ⟹   ENSP00000363071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,418,377 - 219,426,734 (+)Ensembl
RefSeq Acc Id: ENST00000477226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,420,045 - 219,423,820 (+)Ensembl
RefSeq Acc Id: ENST00000483395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,425,520 - 219,426,184 (+)Ensembl
RefSeq Acc Id: ENST00000492726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,420,122 - 219,423,843 (+)Ensembl
RefSeq Acc Id: NM_001382708   ⟹   NP_001369637
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,418,377 - 219,426,734 (+)NCBI
RefSeq Acc Id: NM_001382709   ⟹   NP_001369638
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,418,377 - 219,426,734 (+)NCBI
RefSeq Acc Id: NM_001382710   ⟹   NP_001369639
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,418,377 - 219,426,734 (+)NCBI
RefSeq Acc Id: NM_001382711   ⟹   NP_001369640
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,418,377 - 219,426,734 (+)NCBI
RefSeq Acc Id: NM_001382712   ⟹   NP_001369641
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,418,377 - 219,426,734 (+)NCBI
RefSeq Acc Id: NM_001382713   ⟹   NP_001369642
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,418,377 - 219,426,734 (+)NCBI
RefSeq Acc Id: NM_001927   ⟹   NP_001918
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,418,377 - 219,426,734 (+)NCBI
GRCh372220,283,099 - 220,291,461 (+)ENTREZGENE
Build 362219,991,343 - 219,999,705 (+)NCBI Archive
HuRef2212,136,136 - 212,144,500 (+)ENTREZGENE
CHM1_12220,288,920 - 220,297,282 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001369637 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369638 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369639 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369640 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369641 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369642 (Get FASTA)   NCBI Sequence Viewer  
  NP_001918 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA99221 (Get FASTA)   NCBI Sequence Viewer  
  AAC39938 (Get FASTA)   NCBI Sequence Viewer  
  AAC39939 (Get FASTA)   NCBI Sequence Viewer  
  AAC39940 (Get FASTA)   NCBI Sequence Viewer  
  AAC50680 (Get FASTA)   NCBI Sequence Viewer  
  AAF15400 (Get FASTA)   NCBI Sequence Viewer  
  AAG41217 (Get FASTA)   NCBI Sequence Viewer  
  AAG43459 (Get FASTA)   NCBI Sequence Viewer  
  AAG43460 (Get FASTA)   NCBI Sequence Viewer  
  AAH32116 (Get FASTA)   NCBI Sequence Viewer  
  AAL93205 (Get FASTA)   NCBI Sequence Viewer  
  AAL99078 (Get FASTA)   NCBI Sequence Viewer  
  AAL99215 (Get FASTA)   NCBI Sequence Viewer  
  AAM47026 (Get FASTA)   NCBI Sequence Viewer  
  AAM95238 (Get FASTA)   NCBI Sequence Viewer  
  AAN15036 (Get FASTA)   NCBI Sequence Viewer  
  AAN37810 (Get FASTA)   NCBI Sequence Viewer  
  AAV64888 (Get FASTA)   NCBI Sequence Viewer  
  AAV64889 (Get FASTA)   NCBI Sequence Viewer  
  AAV64890 (Get FASTA)   NCBI Sequence Viewer  
  AAY15051 (Get FASTA)   NCBI Sequence Viewer  
  AAZ17411 (Get FASTA)   NCBI Sequence Viewer  
  AAZ17412 (Get FASTA)   NCBI Sequence Viewer  
  AAZ17413 (Get FASTA)   NCBI Sequence Viewer  
  ABC33803 (Get FASTA)   NCBI Sequence Viewer  
  ABR08708 (Get FASTA)   NCBI Sequence Viewer  
  ADO22408 (Get FASTA)   NCBI Sequence Viewer  
  AGC00770 (Get FASTA)   NCBI Sequence Viewer  
  AGC00771 (Get FASTA)   NCBI Sequence Viewer  
  AXU41059 (Get FASTA)   NCBI Sequence Viewer  
  BAG62342 (Get FASTA)   NCBI Sequence Viewer  
  CAA37307 (Get FASTA)   NCBI Sequence Viewer  
  CAB62389 (Get FASTA)   NCBI Sequence Viewer  
  EAW70739 (Get FASTA)   NCBI Sequence Viewer  
  EAW70740 (Get FASTA)   NCBI Sequence Viewer  
  EAW70741 (Get FASTA)   NCBI Sequence Viewer  
  P17661 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001918   ⟸   NM_001927
- Peptide Label: isoform 1
- UniProtKB: P17661 (UniProtKB/Swiss-Prot),   Q53SB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001369641   ⟸   NM_001382712
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001369640   ⟸   NM_001382711
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001369639   ⟸   NM_001382710
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001369638   ⟸   NM_001382709
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001369637   ⟸   NM_001382708
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001369642   ⟸   NM_001382713
- Peptide Label: isoform 7
RefSeq Acc Id: ENSP00000363071   ⟸   ENST00000373960
Protein Domains
IF rod

Promoters
RGD ID:6862914
Promoter ID:EPDNEW_H4622
Type:initiation region
Name:DES_1
Description:desmin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,418,379 - 219,418,439EPDNEW
RGD ID:6849496
Promoter ID:EP33011
Type:single initiation site
Name:HS_DES
Description:Desmin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 190; Mammalian desmin.
Tissues & Cell Lines:muscle, myotubes > myoblasts
Experiment Methods:Nuclease protection with homologous sequence ladder; Nuclease protection with homologous sequence ladder; transfected; or transformed cells; Primer extension with homologous sequence ladder; NEDO full length human cDNA sequencing project.; Oligo-capping; Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,991,343 - 219,991,403EPD
RGD ID:6797056
Promoter ID:HG_KWN:37366
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:OTTHUMT00000130246
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,992,749 - 219,993,249 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele duplication Spinal muscular atrophy, distal, autosomal recessive, 5 [RCV000552669] Chr2:219285984..219426010 [GRCh38]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1219A>C (p.Lys407Gln) single nucleotide variant Myofibrillar myopathy 1 [RCV000551956] Chr2:219421535 [GRCh38]
Chr2:220286257 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) single nucleotide variant Myofibrillar myopathy 1 [RCV000032923]|Myofibrillar myopathy 1 [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]|Dilated cardiomyopathy 1I [RCV000384969]|Myofibrillar Myopathy, Dominant [RCV000265756]|Myofibrillar myopathy 1 [RCV000290647]|Myofibrillar myopathy 1 [RCV000476709]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000320860]|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]|Dilated cardiomyopathy 1I [RCV000395699]|Myofibrillar Myopathy, Dominant [RCV000395883]|Myofibrillar myopathy 1 [RCV000299687]|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]|Dilated cardiomyopathy 1I [RCV000312502]|Myofibrillar Myopathy, Dominant [RCV000277612]|Myofibrillar myopathy 1 [RCV000325693]|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 Dilated cardiomyopathy 1I [RCV000856836]|Myofibrillar myopathy 1 [RCV000018314]|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 Myofibrillar myopathy 1 [RCV000018315] Chr2:219421394 [GRCh38]
Chr2:220286116 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) single nucleotide variant Myofibrillar myopathy 1 [RCV000018316]|not provided [RCV000056778] Chr2:219421494 [GRCh38]
Chr2:220286216 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) deletion Myofibrillar myopathy 1 [RCV000018317]|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 Dilated cardiomyopathy 1I [RCV000018318]|Myofibrillar myopathy 1 [RCV000698481]|Myofibrillar myopathy 1 [RCV001140631]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001140632]|not provided [RCV000056787] 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 Myofibrillar myopathy 1 [RCV000018319]|Myofibrillar myopathy 1 [RCV001044194]|not provided [RCV000056765] Chr2:219421350 [GRCh38]
Chr2:220286072 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) single nucleotide variant Myofibrillar myopathy 1 [RCV000018320]|Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [RCV000018323]|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 Myofibrillar myopathy 1 [RCV000018324]|not provided [RCV000056776] Chr2:219421482 [GRCh38]
Chr2:220286204 [GRCh37]
Chr2:2q35
pathogenic|not provided
DES, GLU359-ALA360-SER361 DEL deletion Myofibrillar myopathy 1 [RCV000018325] Chr2:2q35 pathogenic
NM_001927.4(DES):c.1094_1096ACA[1] (p.Asn366del) microsatellite Myofibrillar myopathy 1 [RCV000018326]|not provided [RCV000056771] Chr2:219421410..219421412 [GRCh38]
Chr2:220286132..220286134 [GRCh37]
Chr2:2q35
pathogenic|not provided
DES, 3-BP DEL, 720GAA insertion Myofibrillar myopathy 1 [RCV000018327] Chr2:2q35 pathogenic
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) single nucleotide variant Myofibrillar myopathy 1 [RCV000018328]|Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [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 Dilated cardiomyopathy 1I [RCV000577988]|Muscular dystrophy, limb-girdle, type 2R [RCV000578065]|Myofibrillar myopathy 1 [RCV000578096] Chr2:219419003 [GRCh38]
Chr2:220283725 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1255C>A (p.Pro419Thr) single nucleotide variant Myofibrillar myopathy 1 [RCV000546121] Chr2:219423787 [GRCh38]
Chr2:220288509 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1289-2A>G single nucleotide variant Myofibrillar myopathy 1 [RCV000050215] Chr2:219425661 [GRCh38]
Chr2:220290383 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.1014G>C (p.Leu338=) single nucleotide variant Cardiovascular phenotype [RCV000250707]|Dilated cardiomyopathy 1I [RCV000270208]|Myofibrillar Myopathy, Dominant [RCV000388336]|Myofibrillar myopathy 1 [RCV000325316]|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]|Dilated cardiomyopathy 1I [RCV000336268]|Myofibrillar Myopathy, Dominant [RCV000348859]|Myofibrillar myopathy 1 [RCV000375457]|Myofibrillar myopathy 1 [RCV000459928]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000281168]|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 Dilated cardiomyopathy 1I [RCV001250885]|Myofibrillar myopathy 1 [RCV001039932]|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]|Dilated cardiomyopathy 1I [RCV000403379]|Myofibrillar Myopathy, Dominant [RCV000305879]|Myofibrillar myopathy 1 [RCV000405738]|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]|Myofibrillar myopathy 1 [RCV000464462]|not specified [RCV000037226] Chr2:219418576 [GRCh38]
Chr2:220283298 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_001927.4(DES):c.114G>T (p.Ala38=) single nucleotide variant Myofibrillar myopathy 1 [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 not specified [RCV000037231] Chr2:219425740 [GRCh38]
Chr2:220290462 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1375G>A (p.Val459Ile) single nucleotide variant Cardiomyopathy [RCV000770175]|Cardiovascular phenotype [RCV000248138]|Dilated cardiomyopathy 1I [RCV000307505]|Myofibrillar Myopathy, Dominant [RCV000271115]|Myofibrillar myopathy 1 [RCV000302518]|Myofibrillar myopathy 1 [RCV001084307]|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 Myofibrillar myopathy 1 [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]|Dilated cardiomyopathy 1I [RCV001142159]|Myofibrillar myopathy 1 [RCV000547047]|Myofibrillar myopathy 1 [RCV001137420]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001142158]|not provided [RCV000586931]|not specified [RCV000037234] Chr2:219418632 [GRCh38]
Chr2:220283354 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_001927.4(DES):c.18G>A (p.Ser6=) single nucleotide variant Cardiomyopathy [RCV000769153]|Dilated cardiomyopathy 1I [RCV000334781]|Myofibrillar Myopathy, Dominant [RCV000340575]|Myofibrillar myopathy 1 [RCV000286817]|Myofibrillar myopathy 1 [RCV001081339]|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 Dilated cardiomyopathy 1I [RCV000515205]|Dilated cardiomyopathy 1I [RCV001137423]|Myofibrillar myopathy 1 [RCV000805979]|Myofibrillar myopathy 1 [RCV001137422]|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 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]|Dilated cardiomyopathy 1I [RCV000271597]|Myofibrillar Myopathy, Dominant [RCV000376849]|Myofibrillar myopathy 1 [RCV000364043]|Myofibrillar myopathy 1 [RCV000472667]|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]|Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [RCV000133501]|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 Cardiovascular phenotype [RCV000618538]|Myofibrillar myopathy 1 [RCV000528546]|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]|Dilated cardiomyopathy 1I [RCV000323335]|Myofibrillar Myopathy, Dominant [RCV000380447]|Myofibrillar myopathy 1 [RCV000278909]|Myofibrillar myopathy 1 [RCV000460179]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000284644]|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 Dilated cardiomyopathy 1I [RCV000282624]|Myofibrillar Myopathy, Dominant [RCV000336446]|Myofibrillar myopathy 1 [RCV000406497]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000349318]|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]|Dilated cardiomyopathy 1I [RCV000313133]|Myofibrillar Myopathy, Dominant [RCV000263666]|Myofibrillar myopathy 1 [RCV000318781]|Myofibrillar myopathy 1 [RCV001083932]|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 Dilated cardiomyopathy 1I [RCV001142275]|Myofibrillar myopathy 1 [RCV001085258]|Myofibrillar myopathy 1 [RCV001137532]|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 Myofibrillar myopathy 1 [RCV000795291]|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 Myofibrillar myopathy 1 [RCV000037249]|Myofibrillar myopathy 1 [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 Myofibrillar myopathy [RCV000239638]|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 Myofibrillar myopathy 1 [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 Cardiovascular phenotype [RCV000242387]|Dilated cardiomyopathy 1I [RCV000381468]|Myofibrillar Myopathy, Dominant [RCV000345483]|Myofibrillar myopathy 1 [RCV000204254]|Myofibrillar myopathy 1 [RCV000295994]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000350858]|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]|Dilated cardiomyopathy 1I [RCV000397462]|Myofibrillar Myopathy, Dominant [RCV000338231]|Myofibrillar myopathy 1 [RCV000311313]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000390698]|not specified [RCV000037254] Chr2:219420587 [GRCh38]
Chr2:220285309 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.897+4_897+5del deletion Cardiomyopathy [RCV000770170]|Dilated Cardiomyopathy, Dominant [RCV000352919]|Dilated cardiomyopathy 1I [RCV001258319]|Myofibrillar Myopathy, Dominant [RCV000298076]|Myofibrillar myopathy 1 [RCV000268007]|Myofibrillar myopathy 1 [RCV000462365]|Scapuloperoneal weakness [RCV000304469]|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]|Dilated cardiomyopathy 1I [RCV001137622]|Myofibrillar myopathy 1 [RCV000475003]|Myofibrillar myopathy 1 [RCV000987035]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV001137623]|not provided [RCV000056815]|not specified [RCV000037257] Chr2:219420864 [GRCh38]
Chr2:220285586 [GRCh37]
Chr2:2q35
benign|uncertain significance|not provided
NM_001927.4(DES):c.935A>C (p.Asp312Ala) single nucleotide variant Cardiovascular phenotype [RCV000243219]|Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [RCV000133502]|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 Myofibrillar myopathy 1 [RCV000664050]|Myofibrillar myopathy 1 [RCV000799745]|not provided [RCV000056768] Chr2:219421380 [GRCh38]
Chr2:220286102 [GRCh37]
Chr2:2q35
likely pathogenic|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 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 Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [RCV000449603]|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 Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [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 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 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 not provided [RCV000056788] Chr2:219425732 [GRCh38]
Chr2:220290454 [GRCh37]
Chr2:2q35
uncertain significance|not provided
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) single nucleotide variant Myofibrillar myopathy 1 [RCV000211712]|Myofibrillar myopathy 1 [RCV000684771]|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
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
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 Myofibrillar myopathy 1 [RCV001232668]|not provided [RCV000056796] Chr2:219418784 [GRCh38]
Chr2:220283506 [GRCh37]
Chr2:2q35
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
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
not provided
NM_001927.4(DES):c.347A>G (p.Asn116Ser) single nucleotide variant Myofibrillar myopathy 1 [RCV000150380]|not provided [RCV000056799] Chr2:219418809 [GRCh38]
Chr2:220283531 [GRCh37]
Chr2:2q35
likely pathogenic|not provided
NM_001927.4(DES):c.35C>T (p.Ser12Phe) single nucleotide variant Myofibrillar myopathy 1 [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|not provided
NM_001927.4(DES):c.5G>T (p.Ser2Ile) single nucleotide variant Myofibrillar myopathy 1 [RCV000794180]|not provided [RCV000056804] Chr2:219418467 [GRCh38]
Chr2:220283189 [GRCh37]
Chr2:2q35
uncertain significance|not provided
NM_001927.4(DES):c.640-1G>A single nucleotide variant not provided [RCV000056806] Chr2:219420250 [GRCh38]
Chr2:220284972 [GRCh37]
Chr2:2q35
not provided
NM_001927.4(DES):c.640-2A>G single nucleotide variant not provided [RCV000056807] Chr2:219420249 [GRCh38]
Chr2:220284971 [GRCh37]
Chr2:2q35
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
not provided
NM_001927.4(DES):c.735+3A>G single nucleotide variant Myofibrillar myopathy 1 [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 not provided [RCV000056811] Chr2:219420346 [GRCh38]
Chr2:220285068 [GRCh37]
Chr2:2q35
pathogenic|not provided
NM_001927.4(DES):c.821T>C (p.Leu274Pro) single nucleotide variant not provided [RCV000056812] Chr2:219420580 [GRCh38]
Chr2:220285302 [GRCh37]
Chr2:2q35
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]|Dilated cardiomyopathy 1I [RCV001142372]|Myofibrillar myopathy 1 [RCV000466593]|Myofibrillar myopathy 1 [RCV001142373]|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|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 not specified [RCV000124667] Chr2:219420672 [GRCh38]
Chr2:220285394 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.324G>A (p.Glu108=) single nucleotide variant Cardiovascular phenotype [RCV000250330]|Myofibrillar myopathy 1 [RCV000226557]|not specified [RCV000154551] Chr2:219418786 [GRCh38]
Chr2:220283508 [GRCh37]
Chr2:2q35
benign|likely benign|conflicting interpretations of pathogenicity
NM_001927.4(DES):c.216C>A (p.Ser72Arg) single nucleotide variant Dilated cardiomyopathy 1I [RCV000765610]|Myofibrillar myopathy 1 [RCV000463940]|not provided [RCV000710118] Chr2:219418678 [GRCh38]
Chr2:220283400 [GRCh37]
Chr2:2q35
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 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 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 Cardiovascular phenotype [RCV000620327]|Myofibrillar myopathy 1 [RCV000471679]|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 Myofibrillar myopathy 1 [RCV000150381] Chr2:219420347 [GRCh38]
Chr2:220285069 [GRCh37]
Chr2:2q35
likely pathogenic
NM_001927.4(DES):c.1189G>A (p.Ala397Thr) single nucleotide variant 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 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 Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [RCV001059931]|Primary dilated cardiomyopathy [RCV000154519]|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 Dilated cardiomyopathy 1I [RCV000307432]|Left ventricular noncompaction cardiomyopathy [RCV000157163]|Myofibrillar Myopathy, Dominant [RCV000406154]|Myofibrillar myopathy 1 [RCV000229797]|Myofibrillar myopathy 1 [RCV000371396]|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 Dilated cardiomyopathy 1I [RCV000260200]|Myofibrillar Myopathy, Dominant [RCV000379116]|Myofibrillar myopathy 1 [RCV000355054]|Myofibrillar myopathy 1 [RCV000540698]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000324508]|not specified [RCV000154697] Chr2:219420276 [GRCh38]
Chr2:220284998 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_001927.4(DES):c.250G>A (p.Gly84Ser) single nucleotide variant Myofibrillar myopathy 1 [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 Primary dilated cardiomyopathy [RCV000155417] Chr2:219420116 [GRCh38]
Chr2:220284838 [GRCh37]
Chr2:2q35
likely pathogenic
NM_001927.4(DES):c.639+4_639+5del deletion Myofibrillar myopathy 1 [RCV000157059] Chr2:219420158..219420159 [GRCh38]
Chr2:220284880..220284881 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.237G>A (p.Thr79=) single nucleotide variant not provided [RCV000153149] Chr2:219418699 [GRCh38]
Chr2:220283421 [GRCh37]
Chr2:2q35
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]|not provided [RCV000179841] Chr2:219423774 [GRCh38]
Chr2:220288496 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1372-8C>T single nucleotide variant not provided [RCV000180580] Chr2:219425941 [GRCh38]
Chr2:220290663 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.640-16G>A single nucleotide variant not specified [RCV000183341] Chr2:219420235 [GRCh38]
Chr2:220284957 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.-44G>A single nucleotide variant Dilated cardiomyopathy 1I [RCV000333461]|Myofibrillar Myopathy, Dominant [RCV000275289]|Myofibrillar myopathy 1 [RCV000381089]|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 specified [RCV000183343] Chr2:219418432..219418433 [GRCh38]
Chr2:220283154..220283155 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.680G>A (p.Arg227His) single nucleotide variant Myofibrillar myopathy 1 [RCV001055164]|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 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 Myofibrillar myopathy 1 [RCV000473075]|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 Myofibrillar myopathy 1 [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 not provided [RCV000183350] Chr2:219420642 [GRCh38]
Chr2:220285364 [GRCh37]
Chr2:2q35
likely pathogenic
NM_001927.4(DES):c.976C>T (p.His326Tyr) single nucleotide variant Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [RCV000651546]|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 Dilated cardiomyopathy 1A [RCV001256941]|Myofibrillar myopathy 1 [RCV000544077]|Myofibrillar myopathy 1 [RCV001197235] Chr2:219421439 [GRCh38]
Chr2:220286161 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1205T>C (p.Ile402Thr) single nucleotide variant Myofibrillar myopathy 1 [RCV000802498] Chr2:219421521 [GRCh38]
Chr2:220286243 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) single nucleotide variant Myofibrillar myopathy 1 [RCV000532526]|not provided [RCV000656841] Chr2:219421559 [GRCh38]
Chr2:220286281 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.1280A>G (p.Asn427Ser) single nucleotide variant 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 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]|Myofibrillar myopathy 1 [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]|Myofibrillar myopathy 1 [RCV000467504]|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]|Myofibrillar myopathy 1 [RCV000458158]|not provided [RCV000183362]|not specified [RCV000223904] Chr2:219425746 [GRCh38]
Chr2:220290468 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic|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
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 Myofibrillar myopathy 1 [RCV000824328] Chr2:219418695 [GRCh38]
Chr2:220283417 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.295C>G (p.Gln99Glu) single nucleotide variant Myofibrillar myopathy 1 [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 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 Myofibrillar myopathy 1 [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 not provided [RCV000183373] Chr2:219420150 [GRCh38]
Chr2:220284872 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.833G>C (p.Arg278Pro) single nucleotide variant 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 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 not provided [RCV000183377] Chr2:219418820 [GRCh38]
Chr2:220283542 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.924C>T (p.Asn308=) single nucleotide variant Dilated cardiomyopathy 1I [RCV000328732]|Myofibrillar Myopathy, Dominant [RCV000383286]|Myofibrillar myopathy 1 [RCV000359127]|Myofibrillar myopathy 1 [RCV001088971]|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]|Myofibrillar myopathy 1 [RCV000651548]|Primary familial hypertrophic cardiomyopathy [RCV000208223]|not provided [RCV000725602] Chr2:219420254 [GRCh38]
Chr2:220284976 [GRCh37]
Chr2:2q35
pathogenic|uncertain significance
NM_001927.4(DES):c.736-9G>A single nucleotide variant Myofibrillar myopathy 1 [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] Chr2:219418674 [GRCh38]
Chr2:220283396 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.404C>T (p.Ala135Val) single nucleotide variant Myofibrillar myopathy 1 [RCV001079455]|not provided [RCV000725598]|not specified [RCV000217198] Chr2:219418866 [GRCh38]
Chr2:220283588 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.347A>T (p.Asn116Ile) single nucleotide variant Myofibrillar myopathy 1 [RCV000651544]|not specified [RCV000217696] Chr2:219418809 [GRCh38]
Chr2:220283531 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.894G>A (p.Ser298=) single nucleotide variant Myofibrillar myopathy 1 [RCV000556100]|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]|Myofibrillar myopathy 1 [RCV001084978]|not provided [RCV000726722]|not specified [RCV000217963] Chr2:219420267 [GRCh38]
Chr2:220284989 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.99C>T (p.Pro33=) single nucleotide variant Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [RCV000820863]|not specified [RCV000214253] Chr2:219418838 [GRCh38]
Chr2:220283560 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1372-3dup duplication not provided [RCV000824726]|not specified [RCV000220968] Chr2:219425942..219425943 [GRCh38]
Chr2:220290664..220290665 [GRCh37]
Chr2:2q35
conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.369del (p.Ile123fs) deletion not specified [RCV000221238] Chr2:219418831 [GRCh38]
Chr2:220283553 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.937G>A (p.Ala313Thr) single nucleotide variant Myofibrillar myopathy 1 [RCV000819601]|not specified [RCV000219149] Chr2:219420867 [GRCh38]
Chr2:220285589 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.639+13_639+15del microsatellite not provided [RCV000466080]|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 Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [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 Cardiovascular phenotype [RCV000252451]|Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [RCV000230628] Chr2:219421354 [GRCh38]
Chr2:220286076 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.218G>T (p.Arg73Leu) single nucleotide variant Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [RCV000231969] Chr2:219418986 [GRCh38]
Chr2:220283708 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.449G>A (p.Arg150Gln) single nucleotide variant not specified [RCV000223735] Chr2:219418911 [GRCh38]
Chr2:220283633 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1013T>C (p.Leu338Pro) single nucleotide variant Myofibrillar myopathy 1 [RCV000227930] Chr2:219420943 [GRCh38]
Chr2:220285665 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.556G>T (p.Asp186Tyr) single nucleotide variant Myofibrillar myopathy 1 [RCV000225879] Chr2:219419018 [GRCh38]
Chr2:220283740 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1310G>A (p.Gly437Asp) single nucleotide variant Myofibrillar myopathy 1 [RCV000228426] Chr2:219425684 [GRCh38]
Chr2:220290406 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1159G>A (p.Glu387Lys) single nucleotide variant Myofibrillar myopathy 1 [RCV000234622] Chr2:219421475 [GRCh38]
Chr2:220286197 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.410C>A (p.Ala137Asp) single nucleotide variant Myofibrillar myopathy 1 [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]|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]|Myofibrillar myopathy 1 [RCV001211572]|not provided [RCV000991884] Chr2:219418748 [GRCh38]
Chr2:220283470 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.*468G>T single nucleotide variant Dilated cardiomyopathy 1I [RCV000316561]|Myofibrillar Myopathy, Dominant [RCV000285808]|Myofibrillar myopathy 1 [RCV000380488]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000340737] Chr2:219426458 [GRCh38]
Chr2:220291180 [GRCh37]
Chr2:2q35
benign|likely benign
NM_001927.4(DES):c.639G>A (p.Ala213=) single nucleotide variant Myofibrillar myopathy 1 [RCV000547694] Chr2:219420155 [GRCh38]
Chr2:220284877 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.-6G>A single nucleotide variant Dilated cardiomyopathy 1I [RCV000283203]|Myofibrillar Myopathy, Dominant [RCV000327635]|Myofibrillar myopathy 1 [RCV000384609]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000289026] 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]|Myofibrillar myopathy 1 [RCV001215575] Chr2:219420125 [GRCh38]
Chr2:220284847 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.579-38C>T single nucleotide variant 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 Myofibrillar myopathy 1 [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]|Myofibrillar myopathy 1 [RCV001217854]|not provided [RCV000594311] Chr2:219418571 [GRCh38]
Chr2:220283293 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.*198G>A single nucleotide variant Dilated cardiomyopathy 1I [RCV000276898]|Myofibrillar Myopathy, Dominant [RCV000369044]|Myofibrillar myopathy 1 [RCV000362180]|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 Dilated cardiomyopathy 1I [RCV000377719]|Myofibrillar Myopathy, Dominant [RCV000322638]|Myofibrillar myopathy 1 [RCV000283176]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000267489] Chr2:219426652 [GRCh38]
Chr2:220291374 [GRCh37]
Chr2:2q35
benign|likely benign
NM_001927.4(DES):c.*588G>A single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000356739]|Myofibrillar Myopathy, Dominant [RCV000352997]|Myofibrillar myopathy 1 [RCV000261721]|Scapuloperoneal weakness [RCV000316883] Chr2:219426578 [GRCh38]
Chr2:220291300 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.*559G>A single nucleotide variant Dilated cardiomyopathy 1I [RCV000371046]|Myofibrillar Myopathy, Dominant [RCV000311255]|Myofibrillar myopathy 1 [RCV000395626]|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 not provided [RCV000489159] Chr2:219420346 [GRCh38]
Chr2:220285068 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic
NM_001927.4(DES):c.210G>C (p.Arg70=) single nucleotide variant 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 Myofibrillar myopathy 1 [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]|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 Dilated cardiomyopathy 1I [RCV000297648]|Myofibrillar Myopathy, Dominant [RCV000354916]|Myofibrillar myopathy 1 [RCV000319844]|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 Dilated cardiomyopathy 1I [RCV000320189]|Myofibrillar Myopathy, Dominant [RCV000274488]|Myofibrillar myopathy 1 [RCV000280128]|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 not provided [RCV000287300] Chr2:219423788 [GRCh38]
Chr2:220288510 [GRCh37]
Chr2:2q35
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 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]|Myofibrillar myopathy 1 [RCV000694336]|not provided [RCV000357490] Chr2:219423818 [GRCh38]
Chr2:220288540 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1158C>T (p.Arg386=) single nucleotide variant Cardiomyopathy [RCV001171070]|Myofibrillar myopathy 1 [RCV000651545]|not provided [RCV000725757]|not specified [RCV000290385] 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 Myofibrillar myopathy 1 [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 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 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 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 Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [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 Myofibrillar myopathy 1 [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]|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 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 Myofibrillar myopathy 1 [RCV000531257] 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.728A>G (p.His243Arg) single nucleotide variant Dilated cardiomyopathy 1I [RCV001139742]|Myofibrillar myopathy 1 [RCV001139743]|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) single nucleotide variant Myofibrillar myopathy 1 [RCV001242921]|not provided [RCV000594634] Chr2:219418629 [GRCh38]
Chr2:220283351 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1100T>C (p.Ile367Thr) single nucleotide variant Myofibrillar myopathy 1 [RCV000796751]|not provided [RCV000595412] Chr2:219421416 [GRCh38]
Chr2:220286138 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.473A>T (p.Glu158Val) single nucleotide variant not provided [RCV000488926] Chr2:219418935 [GRCh38]
Chr2:220283657 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1148G>A (p.Arg383His) single nucleotide variant Myofibrillar myopathy 1 [RCV001071277]|not provided [RCV000596564] Chr2:219421464 [GRCh38]
Chr2:220286186 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.*489G>A single nucleotide variant Dilated cardiomyopathy 1I [RCV000405252]|Myofibrillar Myopathy, Dominant [RCV000346727]|Myofibrillar myopathy 1 [RCV000405516]|Neurogenic scapuloperoneal syndrome, Kaeser type [RCV000291587] Chr2:219426479 [GRCh38]
Chr2:220291201 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.3(DES):c.*762T>C single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000300241]|Myofibrillar Myopathy, Dominant [RCV000357448]|Myofibrillar myopathy 1 [RCV000401842]|Scapuloperoneal weakness [RCV000260303] Chr2:219426752 [GRCh38]
Chr2:220291474 [GRCh37]
Chr2:2q35
benign
NM_001927.4(DES):c.229A>G (p.Thr77Ala) single nucleotide variant Myofibrillar myopathy 1 [RCV001046462]|not provided [RCV000591625] Chr2:219418691 [GRCh38]
Chr2:220283413 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.218G>A (p.Arg73Gln) single nucleotide variant Myofibrillar myopathy 1 [RCV000707403]|not provided [RCV000592338] Chr2:219418680 [GRCh38]
Chr2:220283402 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1105C>T (p.Arg369Cys) single nucleotide variant Myofibrillar myopathy 1 [RCV000706363]|not provided [RCV000590176] Chr2:219421421 [GRCh38]
Chr2:220286143 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.20C>T (p.Ser7Phe) single nucleotide variant not provided [RCV000730386] Chr2:219418482 [GRCh38]
Chr2:220283204 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1024-7C>G single nucleotide variant Myofibrillar myopathy 1 [RCV001053183]|not specified [RCV000605247] Chr2:219421333 [GRCh38]
Chr2:220286055 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_001927.4(DES):c.1050G>A (p.Arg350=) single nucleotide variant not provided [RCV000591558] Chr2:219421366 [GRCh38]
Chr2:220286088 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.91A>T (p.Ser31Cys) single nucleotide variant not provided [RCV000592042] Chr2:219418553 [GRCh38]
Chr2:220283275 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1049G>A (p.Arg350Gln) single nucleotide variant Myofibrillar myopathy 1 [RCV001067513]|not provided [RCV000732254] Chr2:219421365 [GRCh38]
Chr2:220286087 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.962T>C (p.Met321Thr) single nucleotide variant not provided [RCV000734711] Chr2:219420892 [GRCh38]
Chr2:220285614 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.476T>C (p.Leu159Pro) single nucleotide variant not provided [RCV000727946] Chr2:219418938 [GRCh38]
Chr2:220283660 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1009G>A (p.Ala337Thr) single nucleotide variant Myofibrillar myopathy 1 [RCV000695966]|not provided [RCV000423698] Chr2:219420939 [GRCh38]
Chr2:220285661 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.63C>T (p.Ala21=) single nucleotide variant Myofibrillar myopathy 1 [RCV001086977]|not provided [RCV000726631]|not specified [RCV000427526] Chr2:219418525 [GRCh38]
Chr2:220283247 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.1257C>T (p.Pro419=) single nucleotide variant Myofibrillar myopathy 1 [RCV000558527]|not provided [RCV000726966]|not specified [RCV000424202] Chr2:219423789 [GRCh38]
Chr2:220288511 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.640-4C>G single nucleotide variant not specified [RCV000441822] Chr2:219420247 [GRCh38]
Chr2:220284969 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.816C>T (p.Ala272=) single nucleotide variant Cardiomyopathy [RCV000770169]|not provided [RCV000539100]|not specified [RCV000418306] Chr2:219420575 [GRCh38]
Chr2:220285297 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.1024-11C>T single nucleotide variant not specified [RCV000428215] Chr2:219421329 [GRCh38]
Chr2:220286051 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.1244+17G>C single nucleotide variant not specified [RCV000442250] Chr2:219421577 [GRCh38]
Chr2:220286299 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.1A>G (p.Met1Val) single nucleotide variant Myofibrillar myopathy 1 [RCV000502195]|Myofibrillar myopathy 1 [RCV001217218]|not provided [RCV000417495] Chr2:219418463 [GRCh38]
Chr2:220283185 [GRCh37]
Chr2:2q35
likely pathogenic
NM_001927.4(DES):c.640-17C>T single nucleotide variant not specified [RCV000418902] Chr2:219420234 [GRCh38]
Chr2:220284956 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.529G>A (p.Asp177Asn) single nucleotide variant not provided [RCV000435976] Chr2:219418991 [GRCh38]
Chr2:220283713 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.*19A>G single nucleotide variant not specified [RCV000439608] Chr2:219426009 [GRCh38]
Chr2:220290731 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.1288+20C>T single nucleotide variant not specified [RCV000422712] Chr2:219423840 [GRCh38]
Chr2:220288562 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.528C>G (p.Val176=) single nucleotide variant not specified [RCV000426267] Chr2:219418990 [GRCh38]
Chr2:220283712 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.897+8G>A single nucleotide variant not specified [RCV000429961] Chr2:219420664 [GRCh38]
Chr2:220285386 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.258C>G (p.Gly86=) single nucleotide variant not specified [RCV000426689] Chr2:219418720 [GRCh38]
Chr2:220283442 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.898-5C>T single nucleotide variant not specified [RCV000440557] Chr2:219420823 [GRCh38]
Chr2:220285545 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.1217G>A (p.Arg406Gln) single nucleotide variant not provided [RCV000437250] Chr2:219421533 [GRCh38]
Chr2:220286255 [GRCh37]
Chr2:2q35
likely pathogenic|uncertain significance
NM_001927.4(DES):c.736-19G>A single nucleotide variant not specified [RCV000426966] Chr2:219420476 [GRCh38]
Chr2:220285198 [GRCh37]
Chr2:2q35
likely benign
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
NM_001927.4(DES):c.700G>A (p.Glu234Lys) single nucleotide variant Myofibrillar myopathy 1 [RCV000470148] Chr2:219420311 [GRCh38]
Chr2:220285033 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.735+3A>T single nucleotide variant Myofibrillar myopathy 1 [RCV000459118] Chr2:219420349 [GRCh38]
Chr2:220285071 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.209G>C (p.Arg70Pro) single nucleotide variant Myofibrillar myopathy 1 [RCV000466056] Chr2:219418671 [GRCh38]
Chr2:220283393 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1322A>T (p.His441Leu) single nucleotide variant Myofibrillar myopathy 1 [RCV000695478]|not provided [RCV000479938] Chr2:219425696 [GRCh38]
Chr2:220290418 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.566G>A (p.Arg189Gln) single nucleotide variant Myofibrillar myopathy 1 [RCV000808258]|not provided [RCV000484309] Chr2:219419028 [GRCh38]
Chr2:220283750 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.328G>C (p.Val110Leu) single nucleotide variant Myofibrillar myopathy 1 [RCV001240419]|not provided [RCV000484348] Chr2:219418790 [GRCh38]
Chr2:220283512 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.415G>A (p.Glu139Lys) single nucleotide variant Myofibrillar myopathy 1 [RCV000463745] Chr2:219418877 [GRCh38]
Chr2:220283599 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1354_1358del (p.Glu452fs) deletion Myofibrillar myopathy 1 [RCV000456554] Chr2:219425727..219425731 [GRCh38]
Chr2:220290449..220290453 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.12C>A (p.Ala4=) single nucleotide variant Cardiovascular phenotype [RCV000617744]|Myofibrillar myopathy 1 [RCV000467673]|not specified [RCV000604989] Chr2:219418474 [GRCh38]
Chr2:220283196 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu) indel Myofibrillar myopathy 1 [RCV000471643] Chr2:219425962..219425963 [GRCh38]
Chr2:220290684..220290685 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.629C>T (p.Ala210Val) single nucleotide variant Myofibrillar myopathy 1 [RCV000475550] Chr2:219420145 [GRCh38]
Chr2:220284867 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1064G>A (p.Arg355Gln) single nucleotide variant Myofibrillar myopathy 1 [RCV000456946]|not provided [RCV000480721] Chr2:219421380 [GRCh38]
Chr2:220286102 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.623T>C (p.Leu208Ser) single nucleotide variant Myofibrillar myopathy 1 [RCV001047516]|not provided [RCV000480868] Chr2:219420139 [GRCh38]
Chr2:220284861 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001927.4(DES):c.986A>C (p.Gln329Pro) single nucleotide variant Myofibrillar myopathy 1 [RCV000468065]|not provided [RCV000481645] Chr2:219420916 [GRCh38]
Chr2:220285638 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.939C>T (p.Ala313=) single nucleotide variant Myofibrillar myopathy 1 [RCV000457143] Chr2:219420869 [GRCh38]
Chr2:220285591 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.679C>T (p.Arg227Cys) single nucleotide variant Myofibrillar myopathy 1 [RCV000468464] Chr2:219420290 [GRCh38]
Chr2:220285012 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.391C>A (p.Gln131Lys) single nucleotide variant Myofibrillar myopathy 1 [RCV000470564]|not provided [RCV000484887] Chr2:219418853 [GRCh38]
Chr2:220283575 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.109C>G (p.Arg37Gly) single nucleotide variant Myofibrillar myopathy 1 [RCV001203491]|not provided [RCV000481772] Chr2:219418571 [GRCh38]
Chr2:220283293 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.58G>A (p.Gly20Arg) single nucleotide variant Myofibrillar myopathy 1 [RCV000461350] Chr2:219418520 [GRCh38]
Chr2:220283242 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.699C>T (p.Asn233=) single nucleotide variant Myofibrillar myopathy 1 [RCV000461370] Chr2:219420310 [GRCh38]
Chr2:220285032 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.394C>T (p.Gln132Ter) single nucleotide variant Myofibrillar myopathy 1 [RCV000465218] Chr2:219418856 [GRCh38]
Chr2:220283578 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.130G>A (p.Gly44Ser) single nucleotide variant not provided [RCV000478404] Chr2:219418592 [GRCh38]
Chr2:220283314 [GRCh37]
Chr2:2q35
likely pathogenic
NM_001927.4(DES):c.736-8C>A single nucleotide variant Myofibrillar myopathy 1 [RCV001088745]|not provided [RCV000711440]|not specified [RCV000482297] Chr2:219420487 [GRCh38]
Chr2:220285209 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001927.4(DES):c.210G>A (p.Arg70=) single nucleotide variant not provided [RCV000473296] Chr2:219418672 [GRCh38]
Chr2:220283394 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.77T>A (p.Leu26His) single nucleotide variant not provided [RCV000766356]|not specified [RCV000478316] Chr2:219418539 [GRCh38]
Chr2:220283261 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del) deletion not provided [RCV000482752] Chr2:219425716..219425724 [GRCh38]
Chr2:220290438..220290446 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1408C>T (p.Leu470Phe) single nucleotide variant Myofibrillar myopathy 1 [RCV000473464] Chr2:219425985 [GRCh38]
Chr2:220290707 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.991T>A (p.Tyr331Asn) single nucleotide variant not provided [RCV000479076] Chr2:219420921 [GRCh38]
Chr2:220285643 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.262_263inv (p.Leu88Arg) inversion not provided [RCV000498762] Chr2:219418724..219418725 [GRCh38]
Chr2:220283446..220283447 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.466G>A (p.Glu156Lys) single nucleotide variant not specified [RCV000504292] Chr2:219418928 [GRCh38]
Chr2:220283650 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.407T>C (p.Leu136Pro) single nucleotide variant Dilated cardiomyopathy 1S [RCV000491641] Chr2:219418869 [GRCh38]
Chr2:220283591 [GRCh37]
Chr2:2q35
likely pathogenic
NM_001927.4(DES):c.1333_1336del (p.Lys444_Thr445insTer) deletion Dilated cardiomyopathy 1S [RCV000491144] Chr2:219425706..219425709 [GRCh38]
Chr2:220290428..220290431 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) indel Dilated cardiomyopathy 1S [RCV000491577] Chr2:219418955..219418982 [GRCh38]
Chr2:220283677..220283704 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.1315G>A (p.Glu439Lys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000624503]|Arrhythmogenic right ventricular dysplasia 9 [RCV000491627] Chr2:219425689 [GRCh38]
Chr2:220290411 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001927.4(DES):c.540C>T (p.Arg180=) single nucleotide variant Myofibrillar myopathy 1 [RCV000926407]|not specified [RCV000606815] Chr2:219419002 [GRCh38]
Chr2:220283724 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.1312T>G (p.Ser438Ala) single nucleotide variant Myofibrillar myopathy 1 [RCV000534573] Chr2:219425686 [GRCh38]
Chr2:220290408 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.541G>C (p.Asp181His) single nucleotide variant Cardiomyopathy [RCV000770167]|Myofibrillar myopathy 1 [RCV000535306] Chr2:219419003 [GRCh38]
Chr2:220283725 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.-47C>T single nucleotide variant not specified [RCV000599740] Chr2:219418416 [GRCh38]
Chr2:220283138 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.1255_1271del (p.Pro419fs) deletion Myofibrillar myopathy 1 [RCV000625960] Chr2:219423784..219423800 [GRCh38]
Chr2:220288506..220288522 [GRCh37]
Chr2:2q35
pathogenic
NM_001927.4(DES):c.767A>G (p.Glu256Gly) single nucleotide variant Myofibrillar myopathy 1 [RCV000541620] Chr2:219420526 [GRCh38]
Chr2:220285248 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.673C>T (p.Leu225=) single nucleotide variant Cardiovascular phenotype [RCV000617854] Chr2:219420284 [GRCh38]
Chr2:220285006 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.933C>T (p.Asn311=) single nucleotide variant Cardiovascular phenotype [RCV000619044]|not provided [RCV000862243]|not specified [RCV000601463] Chr2:219420863 [GRCh38]
Chr2:220285585 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.1227G>A (p.Leu409=) single nucleotide variant Cardiovascular phenotype [RCV000618446] Chr2:219421543 [GRCh38]
Chr2:220286265 [GRCh37]
Chr2:2q35
likely benign
NM_001927.4(DES):c.55G>C (p.Gly19Arg) single nucleotide variant Myofibrillar myopathy 1 [RCV000697037]|not provided [RCV000595015] Chr2:219418517 [GRCh38]
Chr2:220283239 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.434G>A (p.Gly145Asp) single nucleotide variant Myofibrillar myopathy 1 [RCV000651539] Chr2:219418896 [GRCh38]
Chr2:220283618 [GRCh37]
Chr2:2q35
uncertain significance
NM_001927.4(DES):c.1