MYLK (myosin light chain kinase) - Rat Genome Database

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Gene: MYLK (myosin light chain kinase) Homo sapiens
Analyze
Symbol: MYLK
Name: myosin light chain kinase
RGD ID: 1322095
HGNC Page HGNC:7590
Description: Enables myosin light chain kinase activity. Involved in several processes, including aorta smooth muscle tissue morphogenesis; bleb assembly; and cellular hypotonic response. Located in several cellular components, including cleavage furrow; lamellipodium; and stress fiber. Implicated in adult respiratory distress syndrome; asthma; coronary artery disease; megacystis-microcolon-intestinal hypoperistalsis syndrome; and thoracic aortic aneurysm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AAT7; DKFZp686I10125; FLJ12216; kinase-related protein; KRP; MLCK; MLCK1; MLCK108; MLCK210; MMIHS; MMIHS1; MSTP083; MYLK-L; MYLK1; myosin light chain kinase, smooth muscle; myosin, light polypeptide kinase; smMLCK; smooth muscle myosin light chain kinase; telokin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MYLKP1   MYLKP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383123,610,049 - 123,884,332 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3123,610,049 - 123,884,332 (-)EnsemblGRCh38hg38GRCh38
GRCh373123,328,896 - 123,603,179 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363124,813,833 - 125,085,839 (-)NCBINCBI36Build 36hg18NCBI36
Build 343124,813,834 - 124,822,220NCBI
Celera3121,738,078 - 122,010,598 (-)NCBICelera
Cytogenetic Map3q21.1NCBI
HuRef3120,704,092 - 120,976,941 (-)NCBIHuRef
CHM1_13123,294,136 - 123,566,156 (-)NCBICHM1_1
T2T-CHM13v2.03126,330,173 - 126,610,461 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1,4-dithiothreitol  (EXP)
1-octadec-9-enoylglycero-3-phosphate  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2-methoxyethanol  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
actinomycin D  (EXP)
afimoxifene  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP,ISO)
belinostat  (EXP)
Benoxacor  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bucladesine  (EXP)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
captan  (ISO)
carbachol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP,ISO)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP,ISO)
dimethylarsinous acid  (EXP)
dioxygen  (ISO)
disulfiram  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
emodin  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (EXP)
fenofibrate  (EXP)
folic acid  (ISO)
folpet  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
ginsenoside Re  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
hydrogen peroxide  (EXP)
Indeno[1,2,3-cd]pyrene  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
L-1,4-dithiothreitol  (EXP)
lipopolysaccharide  (EXP,ISO)
loperamide  (ISO)
losartan  (ISO)
luteolin  (EXP)
medroxyprogesterone acetate  (EXP)
menadione  (EXP)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methoxyacetic acid  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
ML-7  (EXP,ISO)
mono(2-ethylhexyl) phthalate  (ISO)
mosapride citrate dihydrate  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
nickel atom  (EXP,ISO)
Nor-9-carboxy-delta9-THC  (EXP)
ouabain  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
SCH 23390  (ISO)
silicon dioxide  (EXP)
sirolimus  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
succimer  (ISO)
sulforaphane  (EXP)
telmisartan  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP,ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
Triptolide  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vasopressin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
prostaglandin I2 signaling pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abdominal distention  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of connective tissue  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Aortic aneurysm  (IAGP)
Aortic dissection  (IAGP)
Aortic regurgitation  (IAGP)
Aortic root aneurysm  (IAGP)
Aortic rupture  (IAGP)
Arachnodactyly  (IAGP)
Ascending aortic dissection  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bruising susceptibility  (IAGP)
Cardiomegaly  (IAGP)
Carotid artery dilatation  (IAGP)
Carotid artery dissection  (IAGP)
Carotid artery occlusion  (IAGP)
Chest pain  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Cryptorchidism  (IAGP)
Cutis marmorata  (IAGP)
Death in infancy  (IAGP)
Descending aortic dissection  (IAGP)
Descending thoracic aorta aneurysm  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Disproportionate tall stature  (IAGP)
Dural ectasia  (IAGP)
Exertional dyspnea  (IAGP)
Fetal megacystis  (IAGP)
Generalized edema  (IAGP)
Hemoptysis  (IAGP)
High, narrow palate  (IAGP)
Hydroureter  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypoperistalsis  (IAGP)
Hypovolemia  (IAGP)
Inguinal hernia  (IAGP)
Internal carotid artery dissection  (IAGP)
Intestinal malrotation  (IAGP)
Ischemic stroke  (IAGP)
Megacystis  (IAGP)
Microcolon  (IAGP)
Mucoid extracellular matrix accumulation  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the heart  (IAGP)
Oligohydramnios  (IAGP)
Omphalocele  (IAGP)
Paroxysmal dyspnea  (IAGP)
Patent ductus arteriosus  (IAGP)
Peripheral arterial stenosis  (IAGP)
Pes planus  (IAGP)
Pneumothorax  (IAGP)
Polyhydramnios  (IAGP)
Prostate cancer  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Sepsis  (IAGP)
Stroke  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Sudden death  (IAGP)
Tall stature  (IAGP)
Thoracic aortic aneurysm  (IAGP)
Transient ischemic attack  (IAGP)
Umbilical hernia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma. Christie JD, etal., Crit Care Med. 2008 Aug 28.
2. Novel polymorphisms in the myosin light chain kinase gene confer risk for acute lung injury. Gao L, etal., Am J Respir Cell Mol Biol. 2006 Apr;34(4):487-95. Epub 2006 Jan 6.
3. Polymorphisms in the myosin light chain kinase gene that confer risk of severe sepsis are associated with a lower risk of asthma. Gao L, etal., J Allergy Clin Immunol. 2007 May;119(5):1111-8.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking. Horne BD, etal., Ann Hum Genet. 2009 Nov;73(Pt 6):551-8. doi: 10.1111/j.1469-1809.2009.00540.x. Epub 2009 Aug 25.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Heart failure switches the RV alpha1-adrenergic inotropic response from negative to positive. Wang GY, etal., Am J Physiol Heart Circ Physiol. 2010 Mar;298(3):H913-20. Epub 2009 Dec 24.
Additional References at PubMed
PMID:1519061   PMID:2160950   PMID:3079756   PMID:3160694   PMID:6547441   PMID:7947686   PMID:8294496   PMID:8575746   PMID:8889548   PMID:9160829   PMID:9806740   PMID:10036190  
PMID:10092231   PMID:10198165   PMID:10362724   PMID:10402467   PMID:10536370   PMID:10748018   PMID:11062269   PMID:11113114   PMID:11306802   PMID:11481347   PMID:11976941   PMID:12107410  
PMID:12110694   PMID:12408982   PMID:12460991   PMID:12477932   PMID:14627618   PMID:14702039   PMID:14741352   PMID:14968112   PMID:15020676   PMID:15056655   PMID:15087444   PMID:15507455  
PMID:15681825   PMID:15817725   PMID:15825080   PMID:16284075   PMID:16306123   PMID:16344560   PMID:16723733   PMID:16835238   PMID:17244674   PMID:17266121   PMID:17474147   PMID:18029348  
PMID:18218860   PMID:18363837   PMID:18496125   PMID:18521921   PMID:18574677   PMID:18710790   PMID:19011151   PMID:19264973   PMID:19277499   PMID:19429448   PMID:19549383   PMID:19826488  
PMID:19913121   PMID:20053363   PMID:20081554   PMID:20098615   PMID:20181817   PMID:20207250   PMID:20301299   PMID:20453870   PMID:20628086   PMID:20861316   PMID:21055718   PMID:21297165  
PMID:21652678   PMID:21873635   PMID:22015949   PMID:22020285   PMID:22135309   PMID:22219181   PMID:22377736   PMID:22623531   PMID:22808459   PMID:23306855   PMID:23376485   PMID:23492194  
PMID:23656735   PMID:23788249   PMID:23951055   PMID:24722483   PMID:24911373   PMID:25144556   PMID:25179839   PMID:25181625   PMID:25241761   PMID:25271083   PMID:25277244   PMID:25416956  
PMID:25483583   PMID:25562159   PMID:25582918   PMID:25696011   PMID:25907466   PMID:26025125   PMID:26111161   PMID:26147384   PMID:26334100   PMID:26334299   PMID:26468005   PMID:26496610  
PMID:26607798   PMID:26854089   PMID:26876209   PMID:27375035   PMID:27440420   PMID:27483374   PMID:27529643   PMID:27543902   PMID:27563827   PMID:27586135   PMID:27869798   PMID:28260490  
PMID:28391269   PMID:28401540   PMID:28602422   PMID:28696205   PMID:29057883   PMID:29077485   PMID:29262413   PMID:29507755   PMID:29544503   PMID:29767236   PMID:29791485   PMID:29901087  
PMID:29925964   PMID:30021884   PMID:30097533   PMID:30737779   PMID:30936544   PMID:30975701   PMID:31742692   PMID:31980649   PMID:32086378   PMID:32296183   PMID:32495861   PMID:32513696  
PMID:32707033   PMID:33022573   PMID:33438217   PMID:33800915   PMID:34000008   PMID:34056735   PMID:34079125   PMID:34319762   PMID:34588420   PMID:34747428   PMID:34857952   PMID:35253629  
PMID:35256949   PMID:35278271   PMID:35537812   PMID:35831314   PMID:36170767   PMID:36736316   PMID:37827155   PMID:38081409   PMID:38113892  


Genomics

Comparative Map Data
MYLK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383123,610,049 - 123,884,332 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3123,610,049 - 123,884,332 (-)EnsemblGRCh38hg38GRCh38
GRCh373123,328,896 - 123,603,179 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363124,813,833 - 125,085,839 (-)NCBINCBI36Build 36hg18NCBI36
Build 343124,813,834 - 124,822,220NCBI
Celera3121,738,078 - 122,010,598 (-)NCBICelera
Cytogenetic Map3q21.1NCBI
HuRef3120,704,092 - 120,976,941 (-)NCBIHuRef
CHM1_13123,294,136 - 123,566,156 (-)NCBICHM1_1
T2T-CHM13v2.03126,330,173 - 126,610,461 (-)NCBIT2T-CHM13v2.0
Mylk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391634,565,569 - 34,822,806 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1634,565,580 - 34,822,790 (+)EnsemblGRCm39 Ensembl
GRCm381634,745,199 - 35,002,436 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1634,745,210 - 35,002,420 (+)EnsemblGRCm38mm10GRCm38
MGSCv371634,785,036 - 35,002,520 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361634,704,668 - 34,920,359 (+)NCBIMGSCv36mm8
Celera1635,252,169 - 35,470,294 (+)NCBICelera
Cytogenetic Map16B3NCBI
cM Map1624.49NCBI
Mylk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81179,288,243 - 79,535,450 (-)NCBIGRCr8
mRatBN7.21165,783,008 - 66,030,239 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1165,783,008 - 66,030,261 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1174,604,614 - 74,815,083 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01167,267,069 - 67,477,427 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01166,297,014 - 66,507,509 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01169,013,060 - 69,260,039 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1169,013,050 - 69,223,158 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01172,103,710 - 72,350,517 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41167,602,540 - 67,848,794 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11167,661,997 - 67,920,369 (-)NCBI
Celera1165,239,196 - 65,448,599 (-)NCBICelera
Cytogenetic Map11q22NCBI
Mylk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542722,762,221 - 22,970,508 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542722,760,432 - 23,008,432 (-)NCBIChiLan1.0ChiLan1.0
MYLK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22121,568,257 - 121,839,962 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13121,573,032 - 121,844,737 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03120,711,705 - 120,983,432 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13127,612,369 - 127,831,009 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3127,614,173 - 127,793,261 (-)Ensemblpanpan1.1panPan2
MYLK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13326,663,991 - 26,867,370 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3326,664,800 - 26,843,181 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3326,685,793 - 26,889,011 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03326,897,335 - 27,100,530 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3326,897,335 - 27,166,289 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13326,692,727 - 26,872,402 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03326,737,402 - 26,940,787 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03327,349,403 - 27,553,330 (-)NCBIUU_Cfam_GSD_1.0
Mylk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602127,510,307 - 127,686,249 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367251,424,130 - 1,592,840 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367251,418,930 - 1,594,697 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYLK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13136,509,755 - 136,809,668 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113136,509,878 - 136,809,674 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213146,205,306 - 146,232,539 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYLK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12257,032,264 - 57,259,253 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2257,065,331 - 57,257,464 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041109,093,851 - 109,369,614 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mylk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249121,953,838 - 2,172,561 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249121,952,053 - 2,213,196 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

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Variants in MYLK
1611 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_053025.4(MYLK):c.2398G>T (p.Val800Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000687502]|Aortic aneurysm, familial thoracic 7 [RCV002481738]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431491]|not provided [RCV000521193] Chr3:123701502 [GRCh38]
Chr3:123420349 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del) microsatellite Aortic aneurysm, familial thoracic 7 [RCV000552195]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341409]|not specified [RCV001290645] Chr3:123733812..123733814 [GRCh38]
Chr3:123452659..123452661 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.5377T>G (p.Ser1793Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000549815] Chr3:123618762 [GRCh38]
Chr3:123337609 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.717G>A (p.Ser239=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000527705]|Familial thoracic aortic aneurysm and aortic dissection [RCV003159892]|not specified [RCV001264560] Chr3:123737415 [GRCh38]
Chr3:123456262 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2429T>A (p.Met810Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001853660]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456012]|not provided [RCV000519486] Chr3:123701471 [GRCh38]
Chr3:123420318 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000544940]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798893]|not provided [RCV001697000] Chr3:123700284 [GRCh38]
Chr3:123419131 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3351C>A (p.Leu1117=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000545835] Chr3:123700117 [GRCh38]
Chr3:123418964 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3784A>G (p.Thr1262Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000547683]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367908] Chr3:123666266 [GRCh38]
Chr3:123385113 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2921C>G (p.Pro974Arg) single nucleotide variant not provided [RCV000521289] Chr3:123700547 [GRCh38]
Chr3:123419394 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000528784]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170125]|not provided [RCV001811061]|not specified [RCV000609371] Chr3:123707756 [GRCh38]
Chr3:123426603 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.2604C>T (p.Asp868=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000526073]|Familial thoracic aortic aneurysm and aortic dissection [RCV003302867] Chr3:123700864 [GRCh38]
Chr3:123419711 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.2740G>A (p.Asp914Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000544003]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769332] Chr3:123700728 [GRCh38]
Chr3:123419575 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4110C>G (p.Ile1370Met) single nucleotide variant not provided [RCV000523581] Chr3:123657304 [GRCh38]
Chr3:123376151 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4459C>T (p.Arg1487Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000515772] Chr3:123647384 [GRCh38]
Chr3:123366231 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.5742G>T (p.Glu1914Asp) single nucleotide variant not provided [RCV000522392] Chr3:123614108 [GRCh38]
Chr3:123332955 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2463G>T (p.Arg821=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000525134] Chr3:123701005 [GRCh38]
Chr3:123419852 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000529369]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315006]|not provided [RCV001528641] Chr3:123722146 [GRCh38]
Chr3:123440993 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000529711]|Connective tissue disorder [RCV000680575]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769341]|not provided [RCV001697307]|not specified [RCV001779002] Chr3:123732938 [GRCh38]
Chr3:123451785 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.5019T>C (p.Val1673=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000543449]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350332] Chr3:123629569 [GRCh38]
Chr3:123348416 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1807A>G (p.Lys603Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000546392]|not provided [RCV002293454] Chr3:123709891 [GRCh38]
Chr3:123428738 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.374-3C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002529050]|not provided [RCV000579168] Chr3:123740004 [GRCh38]
Chr3:123458851 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000023044]|Familial thoracic aortic aneurysm and aortic dissection [RCV000603875] Chr3:123620300 [GRCh38]
Chr3:123339147 [GRCh37]
Chr3:3q21.1
pathogenic|likely pathogenic
NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000023045]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798012] Chr3:123647405 [GRCh38]
Chr3:123366252 [GRCh37]
Chr3:3q21.1
pathogenic|likely pathogenic
GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1 copy number loss See cases [RCV000051569] Chr3:121644209..125676353 [GRCh38]
Chr3:121363056..125395197 [GRCh37]
Chr3:122845746..126877887 [NCBI36]
Chr3:3q13.33-21.2
pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2
pathogenic
NM_053025.3(MYLK):c.907G>T (p.Gly303Cys) single nucleotide variant Malignant melanoma [RCV000060685] Chr3:123734089 [GRCh38]
Chr3:123452936 [GRCh37]
Chr3:124935626 [NCBI36]
Chr3:3q21.1
not provided
NM_053025.4(MYLK):c.750C>T (p.Ile250=) single nucleotide variant not specified [RCV000420913] Chr3:123737382 [GRCh38]
Chr3:123456229 [GRCh37]
Chr3:124938919 [NCBI36]
Chr3:3q21.1
likely benign|not provided
NM_053025.4(MYLK):c.672C>T (p.Asn224=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000908846]|Connective tissue disorder [RCV000659935] Chr3:123737460 [GRCh38]
Chr3:123456307 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000795326]|Connective tissue disorder [RCV000659938]|Familial thoracic aortic aneurysm and aortic dissection [RCV002422444] Chr3:123734196 [GRCh38]
Chr3:123453043 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.4620-5C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001087534]|Connective tissue disorder [RCV000659950]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798954]|not provided [RCV000842542] Chr3:123640509 [GRCh38]
Chr3:123359356 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.774-15C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002066966]|Connective tissue disorder [RCV000659937]|not specified [RCV003479189] Chr3:123734237 [GRCh38]
Chr3:123453084 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.1189A>G (p.Lys397Glu) single nucleotide variant Connective tissue disorder [RCV000659939] Chr3:123733807 [GRCh38]
Chr3:123452654 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3626C>G (p.Ser1209Cys) single nucleotide variant Connective tissue disorder [RCV000659944] Chr3:123682250 [GRCh38]
Chr3:123401097 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3832-4C>T single nucleotide variant Connective tissue disorder [RCV000659948] Chr3:123664262 [GRCh38]
Chr3:123383109 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.374-7C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002529538]|not specified [RCV000602802] Chr3:123740008 [GRCh38]
Chr3:123458855 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.373+1G>A single nucleotide variant not provided [RCV000999542] Chr3:123752330 [GRCh38]
Chr3:123471177 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.984G>A (p.Ser328=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000999809]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313028]|not provided [RCV001812149]|not specified [RCV000173910] Chr3:123734012 [GRCh38]
Chr3:123452859 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001082109]|Connective tissue disorder [RCV000680576]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769342]|not provided [RCV000757536]|not specified [RCV000173911] Chr3:123733989 [GRCh38]
Chr3:123452836 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000999936]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314607]|not provided [RCV001812153]|not specified [RCV000175376] Chr3:123700441 [GRCh38]
Chr3:123419288 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000602295]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314608]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778771]|not provided [RCV000588956]|not specified [RCV000175377] Chr3:123700066 [GRCh38]
Chr3:123418913 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000576566]|Aortic aneurysm, familial thoracic 7 [RCV003224340]|Familial thoracic aortic aneurysm and aortic dissection [RCV002330993]|not provided [RCV001764694] Chr3:123657284 [GRCh38]
Chr3:123376131 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.343C>T (p.Arg115Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001302451]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451677] Chr3:123752361 [GRCh38]
Chr3:123471208 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001001497]|Aortic aneurysm, familial thoracic 7 [RCV002485151]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770612]|not provided [RCV001532488]|not specified [RCV000176892] Chr3:123640360 [GRCh38]
Chr3:123359207 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.754+16C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002538421]|not specified [RCV001293481] Chr3:123737362 [GRCh38]
Chr3:123456209 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000608983]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314667]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778773]|not provided [RCV000586763]|not specified [RCV000179991] Chr3:123739046 [GRCh38]
Chr3:123457893 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003160157]|not provided [RCV000999541] Chr3:123738950 [GRCh38]
Chr3:123457797 [GRCh37]
Chr3:3q21.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1148C>T (p.Pro383Leu) single nucleotide variant Malignant tumor of prostate [RCV000149329] Chr3:123733848 [GRCh38]
Chr3:123452695 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002505118]|Familial thoracic aortic aneurysm and aortic dissection [RCV000143929]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311020]|not provided [RCV000523278] Chr3:123700872 [GRCh38]
Chr3:123419719 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4079G>A (p.Gly1360Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002483276]|Familial thoracic aortic aneurysm and aortic dissection [RCV000143930] Chr3:123657335 [GRCh38]
Chr3:123376182 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.627_628del (p.Val209_Ser210insTer) microsatellite Aortic aneurysm, familial thoracic 7 [RCV001348952] Chr3:123737504..123737505 [GRCh38]
Chr3:123456351..123456352 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001078482]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415748]|not provided [RCV000724560] Chr3:123708718 [GRCh38]
Chr3:123427565 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q21.1(chr3:123399650-124045857)x3 copy number gain See cases [RCV000139358] Chr3:123399650..124045857 [GRCh38]
Chr3:123118497..123764704 [GRCh37]
Chr3:124601187..125247394 [NCBI36]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) microsatellite Aortic aneurysm, familial thoracic 7 [RCV001514194]|Familial thoracic aortic aneurysm and aortic dissection [RCV000288268]|not specified [RCV000175378] Chr3:123700270..123700272 [GRCh38]
Chr3:123419117..123419119 [GRCh37]
Chr3:3q21.1
benign|likely benign
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3
pathogenic
GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1 copy number loss See cases [RCV000140814] Chr3:121925147..126782249 [GRCh38]
Chr3:121643994..126501092 [GRCh37]
Chr3:123126684..127983782 [NCBI36]
Chr3:3q13.33-21.3
pathogenic
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2
pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3
pathogenic
GRCh38/hg38 3q21.1(chr3:123844472-123900064)x1 copy number loss See cases [RCV000143629] Chr3:123844472..123900064 [GRCh38]
Chr3:123563319..123618911 [GRCh37]
Chr3:125046009..125101601 [NCBI36]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.3982G>A (p.Val1328Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001433134]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313007]|Loeys-Dietz syndrome [RCV000157374] Chr3:123664108 [GRCh38]
Chr3:123382955 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.4805A>G (p.Lys1602Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001837465] Chr3:123640319 [GRCh38]
Chr3:123359166 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4844C>T (p.Ala1615Val) single nucleotide variant Aortic aneurysm, familial abdominal, 1 [RCV000157376]|Aortic aneurysm, familial thoracic 7 [RCV002515047]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336347] Chr3:123638188 [GRCh38]
Chr3:123357035 [GRCh37]
Chr3:3q21.1
benign|likely benign|uncertain significance
NM_053025.4(MYLK):c.1640G>A (p.Trp547Ter) single nucleotide variant not provided [RCV000182570] Chr3:123725955 [GRCh38]
Chr3:123444802 [GRCh37]
Chr3:3q21.1
pathogenic|uncertain significance
NM_053025.4(MYLK):c.571C>G (p.Gln191Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000694087]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345625]|not provided [RCV000179990] Chr3:123738914 [GRCh38]
Chr3:123457761 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.643A>G (p.Met215Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000551705]|Familial thoracic aortic aneurysm and aortic dissection [RCV002365408]|not provided [RCV001764311] Chr3:123737489 [GRCh38]
Chr3:123456336 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000861894]|Familial thoracic aortic aneurysm and aortic dissection [RCV000264494]|not provided [RCV001311609]|not specified [RCV000605840] Chr3:123700879 [GRCh38]
Chr3:123419726 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.*1254GT[4] microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV000260203] Chr3:123612840..123612843 [GRCh38]
Chr3:123331687..123331690 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000198643]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315630] Chr3:123707995 [GRCh38]
Chr3:123426842 [GRCh37]
Chr3:3q21.1
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.957G>A (p.Glu319=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001416511]|Familial thoracic aortic aneurysm and aortic dissection [RCV002381713]|not specified [RCV000603651] Chr3:123734039 [GRCh38]
Chr3:123452886 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001089132]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798689]|not provided [RCV000762382]|not specified [RCV000605913] Chr3:123700030 [GRCh38]
Chr3:123418877 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000204193]|Familial thoracic aortic aneurysm and aortic dissection [RCV002433910]|not provided [RCV001579662]|not specified [RCV000252276] Chr3:123700549 [GRCh38]
Chr3:123419396 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002503823]|Aortic aneurysm, familial thoracic 7 [RCV002517400]|Familial thoracic aortic aneurysm and aortic dissection [RCV000208152]|not specified [RCV002265686] Chr3:123618692 [GRCh38]
Chr3:123337539 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4790C>T (p.Thr1597Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002515546]|Familial thoracic aortic aneurysm and aortic dissection [RCV000208474] Chr3:123640334 [GRCh38]
Chr3:123359181 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4372C>T (p.Gln1458Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000515767] Chr3:123649014 [GRCh38]
Chr3:123367861 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.5392G>A (p.Glu1798Lys) single nucleotide variant not provided [RCV000756400] Chr3:123618747 [GRCh38]
Chr3:123337594 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) single nucleotide variant Aortic aneurysm, familial thoracic 6 [RCV000211453]|Aortic aneurysm, familial thoracic 7 [RCV000463249]|Familial thoracic aortic aneurysm and aortic dissection [RCV000243617]|not provided [RCV001812217]|not specified [RCV000222439] Chr3:123700935 [GRCh38]
Chr3:123419782 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000755314]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315654]|not provided [RCV001812231]|not specified [RCV000215303] Chr3:123734214 [GRCh38]
Chr3:123453061 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000601909]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315642]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778798]|not specified [RCV000215397] Chr3:123733991 [GRCh38]
Chr3:123452838 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.3652+11G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000263705]|not specified [RCV000219718] Chr3:123682213 [GRCh38]
Chr3:123401060 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000614418]|Familial thoracic aortic aneurysm and aortic dissection [RCV000358452]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778799]|not provided [RCV000589856]|not specified [RCV000222054] Chr3:123732926 [GRCh38]
Chr3:123451773 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.62C>A (p.Pro21His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000755313]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315653]|not provided [RCV001812230]|not specified [RCV000222218] Chr3:123793780 [GRCh38]
Chr3:123512627 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000544399]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341410]|not provided [RCV001755872] Chr3:123626924 [GRCh38]
Chr3:123345771 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1513G>A (p.Glu505Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000544621] Chr3:123732899 [GRCh38]
Chr3:123451746 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000210887]|Aortic aneurysm, familial thoracic 7 [RCV002494549]|not provided [RCV001788070]|not specified [RCV003323456] Chr3:123649191 [GRCh38]
Chr3:123368038 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3448+15G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002054377]|Familial thoracic aortic aneurysm and aortic dissection [RCV000284724]|not provided [RCV001812226]|not specified [RCV000219991] Chr3:123700005 [GRCh38]
Chr3:123418852 [GRCh37]
Chr3:3q21.1
benign|uncertain significance
NM_053025.4(MYLK):c.4194C>T (p.His1398=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000462804]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315648]|not provided [RCV001812228]|not specified [RCV000217763] Chr3:123657220 [GRCh38]
Chr3:123376067 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1219G>A (p.Gly407Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000526082] Chr3:123733777 [GRCh38]
Chr3:123452624 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000321956]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315644]|not specified [RCV000215520] Chr3:123700886 [GRCh38]
Chr3:123419733 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000614806]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315646]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778801]|not provided [RCV000589977]|not specified [RCV000218051] Chr3:123692742 [GRCh38]
Chr3:123411589 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.3832-6C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001081224]|Connective tissue disorder [RCV000659947]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798701]|not provided [RCV000234551]|not specified [RCV000220502] Chr3:123664264 [GRCh38]
Chr3:123383111 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000380487]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315650]|not specified [RCV000218155] Chr3:123649166 [GRCh38]
Chr3:123368013 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4891G>A (p.Glu1631Lys) single nucleotide variant not provided [RCV001507633] Chr3:123638141 [GRCh38]
Chr3:123356988 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.411C>G (p.Ser137=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000475492]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315647]|not specified [RCV000214089] Chr3:123739964 [GRCh38]
Chr3:123458811 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4620-6C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000473491]|Familial thoracic aortic aneurysm and aortic dissection [RCV000262439]|not provided [RCV001579650]|not specified [RCV000214166] Chr3:123640510 [GRCh38]
Chr3:123359357 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000475139]|Aortic aneurysm, familial thoracic 7 [RCV002485375]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170122]|not provided [RCV001812224]|not specified [RCV000215944] Chr3:123700393 [GRCh38]
Chr3:123419240 [GRCh37]
Chr3:3q21.1
benign
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000463571]|Familial thoracic aortic aneurysm and aortic dissection [RCV000376784]|not provided [RCV001812227]|not specified [RCV000214367] Chr3:123692775 [GRCh38]
Chr3:123411622 [GRCh37]
Chr3:3q21.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4289-4C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000234085]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315649]|not provided [RCV001579485]|not specified [RCV000214485] Chr3:123649198 [GRCh38]
Chr3:123368045 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001000239]|Aortic aneurysm, familial thoracic 7 [RCV002500689]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315652]|not provided [RCV001812229]|not specified [RCV000218585] Chr3:123629509 [GRCh38]
Chr3:123348356 [GRCh37]
Chr3:3q21.1
benign
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001082057]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769336]|not provided [RCV001697219]|not specified [RCV000214592] Chr3:123708847 [GRCh38]
Chr3:123427694 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1804+8C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000607430]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778800]|not provided [RCV000586651]|not specified [RCV000218807] Chr3:123722120 [GRCh38]
Chr3:123440967 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4289-10dup duplication Aortic aneurysm, familial thoracic 7 [RCV000474209]|Cardiovascular phenotype [RCV000620342]|Familial thoracic aortic aneurysm and aortic dissection [RCV000340938]|not provided [RCV001701799]|not specified [RCV000221432] Chr3:123649196..123649197 [GRCh38]
Chr3:123368043..123368044 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000330337]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315651]|not specified [RCV000214883] Chr3:123638190 [GRCh38]
Chr3:123357037 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000459681]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310800]|not provided [RCV001812225]|not specified [RCV000223242] Chr3:123700215 [GRCh38]
Chr3:123419062 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000361525]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315645]|not specified [RCV000219186] Chr3:123700726 [GRCh38]
Chr3:123419573 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1651+6T>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001000112]|not provided [RCV001812223]|not specified [RCV000215124] Chr3:123725938 [GRCh38]
Chr3:123444785 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000232645]|Aortic aneurysm, familial thoracic 7 [RCV003224226]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315643]|not provided [RCV001812222]|not specified [RCV000217065] Chr3:123733085 [GRCh38]
Chr3:123451932 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.611G>A (p.Ser204Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000229422]|not provided [RCV003327388] Chr3:123737521 [GRCh38]
Chr3:123456368 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1613G>A (p.Arg538Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000229195]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380527]|not provided [RCV000489548] Chr3:123725982 [GRCh38]
Chr3:123444829 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000231358]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313963]|MYLK-related condition [RCV003401186]|not provided [RCV001705291] Chr3:123664247 [GRCh38]
Chr3:123383094 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1271A>T (p.Glu424Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000229799]|Familial thoracic aortic aneurysm and aortic dissection [RCV002374380] Chr3:123733725 [GRCh38]
Chr3:123452572 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4838-7G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000232034]|not provided [RCV001558190] Chr3:123638201 [GRCh38]
Chr3:123357048 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3659C>T (p.Ala1220Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000230546]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313962]|not provided [RCV001537250] Chr3:123667181 [GRCh38]
Chr3:123386028 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2776C>T (p.Arg926Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000232894]|Familial thoracic aortic aneurysm and aortic dissection [RCV000304408]|not provided [RCV001775703] Chr3:123700692 [GRCh38]
Chr3:123419539 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2140+6G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000231016]|Inborn genetic diseases [RCV002518361] Chr3:123708692 [GRCh38]
Chr3:123427539 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.524G>T (p.Gly175Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000231427]|Aortic aneurysm, familial thoracic 7 [RCV002500817]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338761]|not provided [RCV001093173] Chr3:123738961 [GRCh38]
Chr3:123457808 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1400C>G (p.Ala467Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000226349] Chr3:123733012 [GRCh38]
Chr3:123451859 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000999796]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769335]|not provided [RCV001573100]|not specified [RCV000251900] Chr3:123708737 [GRCh38]
Chr3:123427584 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000233775]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338760]|not provided [RCV001722266]|not specified [RCV003387817] Chr3:123638103 [GRCh38]
Chr3:123356950 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001084516]|Aortic aneurysm, familial thoracic 7 [RCV002494665]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313961]|not provided [RCV001569565]|not specified [RCV002229665] Chr3:123708815 [GRCh38]
Chr3:123427662 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3127C>G (p.Pro1043Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000227860]|Aortic aneurysm, familial thoracic 7 [RCV002494666]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321888]|not provided [RCV003129816] Chr3:123700341 [GRCh38]
Chr3:123419188 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000228521]|Aortic aneurysm, familial thoracic 7 [RCV002500816]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170678]|not provided [RCV001812655]|not specified [RCV000242114] Chr3:123739992 [GRCh38]
Chr3:123458839 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000226549]|Connective tissue disorder [RCV000659933]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798743]|not provided [RCV000498107]|not specified [RCV003317170] Chr3:123737539 [GRCh38]
Chr3:123456386 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1113G>A (p.Arg371=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000226797]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436042]|not provided [RCV001577854] Chr3:123733883 [GRCh38]
Chr3:123452730 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3615G>T (p.Arg1205Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002536567]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458359]|not provided [RCV000757529] Chr3:123682261 [GRCh38]
Chr3:123401108 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5489G>A (p.Cys1830Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001211864]|not provided [RCV000757534] Chr3:123618650 [GRCh38]
Chr3:123337497 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3981C>T (p.Val1327=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001088470]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370010]|not provided [RCV000757538] Chr3:123664109 [GRCh38]
Chr3:123382956 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000557660]|Familial thoracic aortic aneurysm and aortic dissection [RCV000238608]|not provided [RCV000657149]|not specified [RCV001192846] Chr3:123618662 [GRCh38]
Chr3:123337509 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000466008]|Aortic aneurysm, familial thoracic 7 [RCV002494685]|Familial thoracic aortic aneurysm and aortic dissection [RCV000238683]|not provided [RCV001770215]|not specified [RCV000508092] Chr3:123666301 [GRCh38]
Chr3:123385148 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3910C>A (p.His1304Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000238856] Chr3:123664180 [GRCh38]
Chr3:123383027 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2626C>A (p.Arg876Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000239161] Chr3:123700842 [GRCh38]
Chr3:123419689 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001034981]|Familial thoracic aortic aneurysm and aortic dissection [RCV002347942]|not provided [RCV002469087]|not specified [RCV000239136] Chr3:123618727 [GRCh38]
Chr3:123337574 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5586C>T (p.Asp1862=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000876731]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313423]|not provided [RCV001764733] Chr3:123614264 [GRCh38]
Chr3:123333111 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5426C>G (p.Pro1809Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315067] Chr3:123618713 [GRCh38]
Chr3:123337560 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3000C>T (p.Ala1000=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648773]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313413]|not provided [RCV000827611] Chr3:123700468 [GRCh38]
Chr3:123419315 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4016G>T (p.Cys1339Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000548625]|not provided [RCV003227788] Chr3:123657398 [GRCh38]
Chr3:123376245 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4744G>A (p.Val1582Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001144191]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313453] Chr3:123640380 [GRCh38]
Chr3:123359227 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1314C>T (p.Ser438=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001001942]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311154]|not provided [RCV001579736] Chr3:123733098 [GRCh38]
Chr3:123451945 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.24C>G (p.Ala8=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000474087]|Familial thoracic aortic aneurysm and aortic dissection [RCV000246015]|not provided [RCV001552310]|not specified [RCV001823721] Chr3:123793818 [GRCh38]
Chr3:123512665 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.455G>A (p.Arg152His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001089045]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311130]|not specified [RCV001174833] Chr3:123739030 [GRCh38]
Chr3:123457877 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.333C>T (p.Gly111=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310956] Chr3:123752371 [GRCh38]
Chr3:123471218 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2799G>A (p.Val933=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000459862]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311128]|not provided [RCV001537206] Chr3:123700669 [GRCh38]
Chr3:123419516 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3096_3131del (p.1032_1043AETLKPMGNAKP[1]) deletion Aortic aneurysm, familial thoracic 7 [RCV000551877]|Aortic aneurysm, familial thoracic 7 [RCV002491074]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315008]|not provided [RCV002254934] Chr3:123700337..123700372 [GRCh38]
Chr3:123419184..123419219 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000283717]|not provided [RCV000842222] Chr3:123649181 [GRCh38]
Chr3:123368028 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.423-8C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648755]|Familial thoracic aortic aneurysm and aortic dissection [RCV000285868]|not provided [RCV001584049] Chr3:123739070 [GRCh38]
Chr3:123457917 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000868827]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314067]|not provided [RCV001555323]|not specified [RCV003323521] Chr3:123649038 [GRCh38]
Chr3:123367885 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001000299]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769344]|not provided [RCV001812740]|not specified [RCV000253654] Chr3:123739006 [GRCh38]
Chr3:123457853 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.3969C>T (p.Val1323=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000866705]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311076] Chr3:123664121 [GRCh38]
Chr3:123382968 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001081723]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770620]|not provided [RCV000828385]|not specified [RCV000253600] Chr3:123666344 [GRCh38]
Chr3:123385191 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1110G>A (p.Glu370=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001426956]|Aortic aneurysm, familial thoracic 7 [RCV002487146]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310925]|not provided [RCV001697729] Chr3:123733886 [GRCh38]
Chr3:123452733 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000456207]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311139]|not provided [RCV001572878]|not specified [RCV000613694] Chr3:123739993 [GRCh38]
Chr3:123458840 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.5535T>C (p.Asp1845=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001479464]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350333]|not specified [RCV001260408] Chr3:123614315 [GRCh38]
Chr3:123333162 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.207C>T (p.Asn69=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000861782]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313988]|not provided [RCV001579755]|not specified [RCV000246540] Chr3:123752497 [GRCh38]
Chr3:123471344 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3183C>T (p.Ser1061=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000866334]|Aortic aneurysm, familial thoracic 7 [RCV002479983]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798753]|not provided [RCV001697734] Chr3:123700285 [GRCh38]
Chr3:123419132 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4119A>G (p.Ser1373=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000524583]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310914]|not specified [RCV000614041] Chr3:123657295 [GRCh38]
Chr3:123376142 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.999G>A (p.Pro333=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001085421]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798748]|not provided [RCV000513644]|not specified [RCV000251918] Chr3:123733997 [GRCh38]
Chr3:123452844 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000274447]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150189] Chr3:123664190 [GRCh38]
Chr3:123383037 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3048T>C (p.Asn1016=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002059043]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311144]|not provided [RCV001812760] Chr3:123700420 [GRCh38]
Chr3:123419267 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.652C>T (p.Leu218=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001000298]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769343]|not provided [RCV001812741]|not specified [RCV000246667] Chr3:123737480 [GRCh38]
Chr3:123456327 [GRCh37]
Chr3:3q21.1
benign
NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000793618]|Aortic aneurysm, familial thoracic 7 [RCV002487145]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310920] Chr3:123682265 [GRCh38]
Chr3:123401112 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.754+17G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002058387]|not specified [RCV000251596] Chr3:123737361 [GRCh38]
Chr3:123456208 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.3750C>T (p.Arg1250=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000469062]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310957]|not provided [RCV001589302]|not specified [RCV001526887] Chr3:123666300 [GRCh38]
Chr3:123385147 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.2628C>T (p.Arg876=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000538502]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313989]|not provided [RCV001722351]|not specified [RCV000244376] Chr3:123700840 [GRCh38]
Chr3:123419687 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.619G>A (p.Val207Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001045808]|Connective tissue disorder [RCV000659934]|Familial thoracic aortic aneurysm and aortic dissection [RCV000249352]|not provided [RCV000520122] Chr3:123737513 [GRCh38]
Chr3:123456360 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.435A>C (p.Ser145=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002059031]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310924]|not provided [RCV000840189]|not specified [RCV002307473] Chr3:123739050 [GRCh38]
Chr3:123457897 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000477018]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311120]|not provided [RCV000999540] Chr3:123733863 [GRCh38]
Chr3:123452710 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4026C>T (p.Asp1342=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311124] Chr3:123657388 [GRCh38]
Chr3:123376235 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1802A>C (p.His601Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648711]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310949] Chr3:123722130 [GRCh38]
Chr3:123440977 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3755G>A (p.Gly1252Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310989] Chr3:123666295 [GRCh38]
Chr3:123385142 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2127G>A (p.Val709=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648769]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418089]|not specified [RCV000242261] Chr3:123708711 [GRCh38]
Chr3:123427558 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1219G>T (p.Gly407Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000805986]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311160]|not provided [RCV001565221] Chr3:123733777 [GRCh38]
Chr3:123452624 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000471565]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313990]|not provided [RCV001722352]|not specified [RCV000247366] Chr3:123657219 [GRCh38]
Chr3:123376066 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.4520G>A (p.Arg1507Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311117] Chr3:123647323 [GRCh38]
Chr3:123366170 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4082G>A (p.Ser1361Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000765703]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311157] Chr3:123657332 [GRCh38]
Chr3:123376179 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000467595]|Aortic aneurysm, familial thoracic 7 [RCV002508930]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170124]|Marfan syndrome [RCV000581201]|not provided [RCV000658971]|not specified [RCV003479086] Chr3:123700994 [GRCh38]
Chr3:123419841 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_053025.4(MYLK):c.399G>T (p.Gln133His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001000031]|Congenital aneurysm of ascending aorta [RCV001795472]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170677]|not provided [RCV001579449]|not specified [RCV000427577] Chr3:123739976 [GRCh38]
Chr3:123458823 [GRCh37]
Chr3:3q21.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1134T>C (p.Arg378=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311135] Chr3:123733862 [GRCh38]
Chr3:123452709 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.*419C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000271588] Chr3:123613686 [GRCh38]
Chr3:123332533 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.3681C>T (p.Ala1227=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001080530]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311214]|not provided [RCV000658970] Chr3:123667159 [GRCh38]
Chr3:123386006 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001087491]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770619]|not provided [RCV001812739]|not specified [RCV000247458] Chr3:123657427 [GRCh38]
Chr3:123376274 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000554596]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170679]|not provided [RCV000727292]|not specified [RCV002265713] Chr3:123752447 [GRCh38]
Chr3:123471294 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1668C>T (p.Tyr556=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001432234]|Familial thoracic aortic aneurysm and aortic dissection [RCV002401964]|not provided [RCV001775753]|not specified [RCV000250012] Chr3:123722264 [GRCh38]
Chr3:123441111 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1075C>A (p.Pro359Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001296974]|Aortic aneurysm, familial thoracic 7 [RCV002487156]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311118]|not provided [RCV003441829] Chr3:123733921 [GRCh38]
Chr3:123452768 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4800G>A (p.Arg1600=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000475445]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338809]|not provided [RCV001697628]|not specified [RCV000245273] Chr3:123640324 [GRCh38]
Chr3:123359171 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4645C>T (p.Arg1549Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001854997]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311211] Chr3:123640479 [GRCh38]
Chr3:123359326 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001089352]|Connective tissue disorder [RCV000680569]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310930]|not provided [RCV000530049]|not specified [RCV003317175] Chr3:123649190 [GRCh38]
Chr3:123368037 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000469322]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170114]|not provided [RCV000519483]|not specified [RCV001358749] Chr3:123649050 [GRCh38]
Chr3:123367897 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.639C>T (p.Asn213=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001404092]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311072]|not specified [RCV000242894] Chr3:123737493 [GRCh38]
Chr3:123456340 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000685958]|Aortic aneurysm, familial thoracic 7 [RCV002479988]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311159]|not provided [RCV003153546] Chr3:123638117 [GRCh38]
Chr3:123356964 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4838-3C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648751]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338810]|not provided [RCV001557934]|not specified [RCV000250226] Chr3:123638197 [GRCh38]
Chr3:123357044 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.422+14G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001000778]|Aortic aneurysm, familial thoracic 7 [RCV002479971]|not specified [RCV000252705] Chr3:123739939 [GRCh38]
Chr3:123458786 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.188A>G (p.Gln63Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000276037]|not provided [RCV001590997] Chr3:123752516 [GRCh38]
Chr3:123471363 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.588+10C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001459884]|not provided [RCV000726371]|not specified [RCV000243022] Chr3:123738887 [GRCh38]
Chr3:123457734 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.373+18C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002058383]|Aortic aneurysm, familial thoracic 7 [RCV002500931]|not provided [RCV003114430]|not specified [RCV000245626] Chr3:123752313 [GRCh38]
Chr3:123471160 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.588+13_588+16del microsatellite Aortic aneurysm, familial thoracic 7 [RCV002058386]|Familial thoracic aortic aneurysm and aortic dissection [RCV000284812]|not provided [RCV001579425]|not specified [RCV000247980] Chr3:123738881..123738884 [GRCh38]
Chr3:123457728..123457731 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.771T>C (p.Asn257=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000552649]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380533]|not provided [RCV001722353]|not specified [RCV000243196] Chr3:123735400 [GRCh38]
Chr3:123454247 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4710G>A (p.Ser1570=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002058385]|Aortic aneurysm, familial thoracic 7 [RCV002479972]|Familial thoracic aortic aneurysm and aortic dissection [RCV003165696]|not provided [RCV001567571]|not specified [RCV000243328] Chr3:123640414 [GRCh38]
Chr3:123359261 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5001C>T (p.Asn1667=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648747]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770611]|not provided [RCV001697629]|not specified [RCV000245685] Chr3:123629587 [GRCh38]
Chr3:123348434 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000464822]|Aortic aneurysm, familial thoracic 7 [RCV002494796]|Connective tissue disorder [RCV000680571]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311219]|not provided [RCV001701984]|not specified [RCV000609787] Chr3:123700226 [GRCh38]
Chr3:123419073 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.993G>A (p.Thr331=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000533195]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310903]|not provided [RCV001697697] Chr3:123734003 [GRCh38]
Chr3:123452850 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.5114+8G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001000715]|Connective tissue disorder [RCV000680566]|not provided [RCV000762379]|not specified [RCV000250635] Chr3:123629466 [GRCh38]
Chr3:123348313 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000465223]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798792]|not provided [RCV001697676] Chr3:123618691 [GRCh38]
Chr3:123337538 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4620-4G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000865701]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770614]|not provided [RCV001722378] Chr3:123640508 [GRCh38]
Chr3:123359355 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4620-12G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000319646]|not specified [RCV000243431] Chr3:123640516 [GRCh38]
Chr3:123359363 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001082752]|Aortic aneurysm, familial thoracic 7 [RCV002503964]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770617]|not provided [RCV000756397]|not specified [RCV000441978] Chr3:123649037 [GRCh38]
Chr3:123367884 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4620-18G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002058384]|not provided [RCV000515068]|not specified [RCV000248378] Chr3:123640522 [GRCh38]
Chr3:123359369 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1496G>C (p.Ser499Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002518735]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798761] Chr3:123732916 [GRCh38]
Chr3:123451763 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3565+7C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000267262] Chr3:123692728 [GRCh38]
Chr3:123411575 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2124C>T (p.Ala708=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000863386]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418206]|not provided [RCV001712076] Chr3:123708714 [GRCh38]
Chr3:123427561 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000460022]|Aortic aneurysm, familial thoracic 7 [RCV002480198]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170120]|not provided [RCV000998134]|not specified [RCV001797708] Chr3:123682266 [GRCh38]
Chr3:123401113 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.682G>A (p.Val228Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000373689]|Inborn genetic diseases [RCV003243101]|not provided [RCV001764310] Chr3:123737450 [GRCh38]
Chr3:123456297 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.*197T>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000374242] Chr3:123613908 [GRCh38]
Chr3:123332755 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.601C>T (p.Leu201=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000526771]|not provided [RCV001576377] Chr3:123737531 [GRCh38]
Chr3:123456378 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.2781C>T (p.Ala927=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000353373] Chr3:123700687 [GRCh38]
Chr3:123419534 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.*95C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000334830] Chr3:123614010 [GRCh38]
Chr3:123332857 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1302T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000354732] Chr3:123612803 [GRCh38]
Chr3:123331650 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-72C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001000113]|not provided [RCV001812881] Chr3:123831616 [GRCh38]
Chr3:123550463 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1651+7T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000336248] Chr3:123725937 [GRCh38]
Chr3:123444784 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.-185-5A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000378921] Chr3:123876622 [GRCh38]
Chr3:123595469 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000303162]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348096]|not specified [RCV000612143] Chr3:123614147 [GRCh38]
Chr3:123332994 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.-24C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000318385]|not specified [RCV000606003] Chr3:123831568 [GRCh38]
Chr3:123550415 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000415658]|Connective tissue disorder [RCV000680564]|Familial thoracic aortic aneurysm and aortic dissection [RCV000337416]|not provided [RCV000757532]|not specified [RCV000420099] Chr3:123708870 [GRCh38]
Chr3:123427717 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_053025.4(MYLK):c.*1191T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000379263]|Aortic aneurysm, familial thoracic 7 [RCV002488737] Chr3:123612914 [GRCh38]
Chr3:123331761 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*406G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000381348] Chr3:123613699 [GRCh38]
Chr3:123332546 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000461481]|Connective tissue disorder [RCV000680573]|Familial thoracic aortic aneurysm and aortic dissection [RCV000382242]|not provided [RCV001701861]|not specified [RCV000429210] Chr3:123707891 [GRCh38]
Chr3:123426738 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.*612C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000321095] Chr3:123613493 [GRCh38]
Chr3:123332340 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.559C>T (p.Arg187Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001052317]|Inborn genetic diseases [RCV002520074]|not provided [RCV003133240] Chr3:123738926 [GRCh38]
Chr3:123457773 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1809A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000756395] Chr3:123612296 [GRCh38]
Chr3:123331143 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.*1135G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000290950] Chr3:123612970 [GRCh38]
Chr3:123331817 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001089097]|Familial thoracic aortic aneurysm and aortic dissection [RCV000305847]|not provided [RCV000827130] Chr3:123725965 [GRCh38]
Chr3:123444812 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.*1176del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000321344] Chr3:123612929 [GRCh38]
Chr3:123331776 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000457820]|Familial thoracic aortic aneurysm and aortic dissection [RCV000306545]|not provided [RCV001597109]|not specified [RCV001269125] Chr3:123618698 [GRCh38]
Chr3:123337545 [GRCh37]
Chr3:3q21.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.-153C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000323742] Chr3:123876585 [GRCh38]
Chr3:123595432 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.5329C>T (p.Pro1777Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000363594]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348097]|not provided [RCV002305482] Chr3:123620246 [GRCh38]
Chr3:123339093 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000292530]|Aortic aneurysm, familial thoracic 7 [RCV002488739]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314068]|not provided [RCV001753805] Chr3:123700532 [GRCh38]
Chr3:123419379 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648746]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314066]|not provided [RCV001698129] Chr3:123640399 [GRCh38]
Chr3:123359246 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000549158]|Aortic aneurysm, familial thoracic 7 [RCV002488740]|Familial thoracic aortic aneurysm and aortic dissection [RCV002450914]|not provided [RCV001580019] Chr3:123701439 [GRCh38]
Chr3:123420286 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-197T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000344028]|not specified [RCV000420282] Chr3:123884217 [GRCh38]
Chr3:123603064 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1213A>G (p.Met405Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000469893]|Familial thoracic aortic aneurysm and aortic dissection [RCV002356474] Chr3:123733783 [GRCh38]
Chr3:123452630 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.374-9T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000346768]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150191] Chr3:123740010 [GRCh38]
Chr3:123458857 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.*1538A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000367395] Chr3:123612567 [GRCh38]
Chr3:123331414 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000390601]|not provided [RCV001812880] Chr3:123657310 [GRCh38]
Chr3:123376157 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4289-13del deletion Aortic aneurysm, familial thoracic 7 [RCV002057827]|Familial thoracic aortic aneurysm and aortic dissection [RCV000310787]|not provided [RCV001705511]|not specified [RCV002230716] Chr3:123649207 [GRCh38]
Chr3:123368054 [GRCh37]
Chr3:3q21.1
benign|likely benign|uncertain significance
NM_053025.4(MYLK):c.1952C>T (p.Pro651Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000391508] Chr3:123708886 [GRCh38]
Chr3:123427733 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000415686]|Familial thoracic aortic aneurysm and aortic dissection [RCV000311628]|not provided [RCV000592069] Chr3:123752448 [GRCh38]
Chr3:123471295 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.969G>A (p.Glu323=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001395280]|Familial thoracic aortic aneurysm and aortic dissection [RCV000370204] Chr3:123734027 [GRCh38]
Chr3:123452874 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001078568]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798793]|not provided [RCV000465200]|not specified [RCV003235194] Chr3:123664175 [GRCh38]
Chr3:123383022 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4289-4C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000393869] Chr3:123649198 [GRCh38]
Chr3:123368045 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*945G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000349466]|Aortic aneurysm, familial thoracic 7 [RCV002504150] Chr3:123613160 [GRCh38]
Chr3:123332007 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.*213T>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000349744] Chr3:123613892 [GRCh38]
Chr3:123332739 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.*1653G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000371085]|Aortic aneurysm, familial thoracic 7 [RCV002487506] Chr3:123612452 [GRCh38]
Chr3:123331299 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1576G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000312920] Chr3:123612529 [GRCh38]
Chr3:123331376 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000528252]|Aortic aneurysm, familial thoracic 7 [RCV003224265]|Connective tissue disorder [RCV000659949]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170118]|not provided [RCV001718726] Chr3:123664192 [GRCh38]
Chr3:123383039 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4415+9A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000554963]|Familial thoracic aortic aneurysm and aortic dissection [RCV000372053]|not provided [RCV001697828]|not specified [RCV003330649] Chr3:123648962 [GRCh38]
Chr3:123367809 [GRCh37]
Chr3:3q21.1
benign|likely benign|uncertain significance
NM_053025.4(MYLK):c.*165del deletion Aortic aneurysm, familial thoracic 7 [RCV002488738]|Familial thoracic aortic aneurysm and aortic dissection [RCV000282014] Chr3:123613940 [GRCh38]
Chr3:123332787 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1174_*1177dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000284843] Chr3:123612927..123612928 [GRCh38]
Chr3:123331774..123331775 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.*764_*765dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000298955] Chr3:123613339..123613340 [GRCh38]
Chr3:123332186..123332187 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.*76_*77insAC insertion Familial thoracic aortic aneurysm and aortic dissection [RCV000303906] Chr3:123614028..123614029 [GRCh38]
Chr3:123332875..123332876 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.859A>G (p.Ser287Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001067042]|not provided [RCV003441847] Chr3:123734137 [GRCh38]
Chr3:123452984 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1509_*1511dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000318602] Chr3:123612593..123612594 [GRCh38]
Chr3:123331440..123331441 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648725]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314013]|not provided [RCV000351703]|not specified [RCV003323492] Chr3:123700839 [GRCh38]
Chr3:123419686 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.*1526C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000263377] Chr3:123612579 [GRCh38]
Chr3:123331426 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*76dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000342459] Chr3:123614028..123614029 [GRCh38]
Chr3:123332875..123332876 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-130A>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000263970] Chr3:123876562 [GRCh38]
Chr3:123595409 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.570G>T (p.Pro190=) single nucleotide variant not provided [RCV000360647] Chr3:123738915 [GRCh38]
Chr3:123457762 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5224A>G (p.Arg1742Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000277659] Chr3:123626832 [GRCh38]
Chr3:123345679 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*765dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000406564] Chr3:123613339..123613340 [GRCh38]
Chr3:123332186..123332187 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1340G>C (p.Trp447Ser) single nucleotide variant not provided [RCV000367757] Chr3:123733072 [GRCh38]
Chr3:123451919 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*712G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000268228] Chr3:123613393 [GRCh38]
Chr3:123332240 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2643G>A (p.Gln881=) single nucleotide variant not provided [RCV000266654] Chr3:123700825 [GRCh38]
Chr3:123419672 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3380_3382delinsGCC (p.Ala1127_Thr1128delinsGlyPro) indel not provided [RCV000300723] Chr3:123700086..123700088 [GRCh38]
Chr3:123418933..123418935 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.149C>T (p.Ala50Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001851307]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769346]|not provided [RCV000489357] Chr3:123793693 [GRCh38]
Chr3:123512540 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3120C>T (p.Asn1040=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000532459]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324020]|not provided [RCV001571215] Chr3:123700348 [GRCh38]
Chr3:123419195 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4425T>G (p.Phe1475Leu) single nucleotide variant not provided [RCV000488042] Chr3:123647418 [GRCh38]
Chr3:123366265 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5120G>A (p.Arg1707His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000531919]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798894]|not provided [RCV001755871] Chr3:123626936 [GRCh38]
Chr3:123345783 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4066T>C (p.Ser1356Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003311143] Chr3:123657348 [GRCh38]
Chr3:123376195 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1569C>T (p.Cys523=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001086427]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168989]|not provided [RCV000488368] Chr3:123726026 [GRCh38]
Chr3:123444873 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4054T>C (p.Trp1352Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001068468] Chr3:123657360 [GRCh38]
Chr3:123376207 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1630G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000399040] Chr3:123612475 [GRCh38]
Chr3:123331322 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1041G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000345842] Chr3:123613064 [GRCh38]
Chr3:123331911 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*246A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000292415] Chr3:123613859 [GRCh38]
Chr3:123332706 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*258G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000332338] Chr3:123613847 [GRCh38]
Chr3:123332694 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2564C>T (p.Ala855Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000364908]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429305] Chr3:123700904 [GRCh38]
Chr3:123419751 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*77dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000402451] Chr3:123614027..123614028 [GRCh38]
Chr3:123332874..123332875 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-228C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000384621]|Aortic aneurysm, familial thoracic 7 [RCV002487507] Chr3:123884248 [GRCh38]
Chr3:123603095 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*857_*860dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000403657] Chr3:123613244..123613245 [GRCh38]
Chr3:123332091..123332092 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*960C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000294544] Chr3:123613145 [GRCh38]
Chr3:123331992 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2829G>T (p.Arg943Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000405407]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150190] Chr3:123700639 [GRCh38]
Chr3:123419486 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1671A>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000307048] Chr3:123612434 [GRCh38]
Chr3:123331281 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2779G>A (p.Ala927Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000406308] Chr3:123700689 [GRCh38]
Chr3:123419536 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-288C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000365340] Chr3:123884308 [GRCh38]
Chr3:123603155 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.*252T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000389185] Chr3:123613853 [GRCh38]
Chr3:123332700 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1297T>C (p.Phe433Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000309567]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379234] Chr3:123733699 [GRCh38]
Chr3:123452546 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2113C>T (p.Arg705Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001860297]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315916]|not provided [RCV000866251]|not specified [RCV003330826] Chr3:123708725 [GRCh38]
Chr3:123427572 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.123C>A (p.Asn41Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000298327] Chr3:123793719 [GRCh38]
Chr3:123512566 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1210T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000324737] Chr3:123612895 [GRCh38]
Chr3:123331742 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1031C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000391779] Chr3:123613074 [GRCh38]
Chr3:123331921 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3024G>A (p.Val1008=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000980685] Chr3:123700444 [GRCh38]
Chr3:123419291 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.2462+19T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002531553]|not specified [RCV000605162] Chr3:123701419 [GRCh38]
Chr3:123420266 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.844G>A (p.Glu282Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313429]|not provided [RCV001756008] Chr3:123734152 [GRCh38]
Chr3:123452999 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*812C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000300169] Chr3:123613293 [GRCh38]
Chr3:123332140 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*802C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000357329] Chr3:123613303 [GRCh38]
Chr3:123332150 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3479C>T (p.Ala1160Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001860401]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313455]|not provided [RCV003320714] Chr3:123692821 [GRCh38]
Chr3:123411668 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2433A>G (p.Leu811=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313447] Chr3:123701467 [GRCh38]
Chr3:123420314 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.-186+10C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000289164] Chr3:123884196 [GRCh38]
Chr3:123603043 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*334_*335insAAATGC insertion Familial thoracic aortic aneurysm and aortic dissection [RCV000289340] Chr3:123613770..123613771 [GRCh38]
Chr3:123332617..123332618 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3831+5G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313419] Chr3:123666214 [GRCh38]
Chr3:123385061 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2396G>A (p.Arg799Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313446] Chr3:123701504 [GRCh38]
Chr3:123420351 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-277T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000290118] Chr3:123884297 [GRCh38]
Chr3:123603144 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*524C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000359464] Chr3:123613581 [GRCh38]
Chr3:123332428 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*416dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000329057] Chr3:123613688..123613689 [GRCh38]
Chr3:123332535..123332536 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*713C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000360635] Chr3:123613392 [GRCh38]
Chr3:123332239 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4055G>T (p.Trp1352Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001859102]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170116] Chr3:123657359 [GRCh38]
Chr3:123376206 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2331C>T (p.Phe777=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001417896]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170126] Chr3:123707813 [GRCh38]
Chr3:123426660 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2103T>C (p.Ala701=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001170128] Chr3:123708735 [GRCh38]
Chr3:123427582 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3831+10G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000867787]|not specified [RCV000600444] Chr3:123666209 [GRCh38]
Chr3:123385056 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1170G>C (p.Gly390=) single nucleotide variant not provided [RCV000591793] Chr3:123733826 [GRCh38]
Chr3:123452673 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2820G>A (p.Glu940=) single nucleotide variant not specified [RCV000601332] Chr3:123700648 [GRCh38]
Chr3:123419495 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4296G>A (p.Lys1432=) single nucleotide variant not specified [RCV000601567] Chr3:123649187 [GRCh38]
Chr3:123368034 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2076G>A (p.Thr692=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648745]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313430]|not provided [RCV001764734] Chr3:123708762 [GRCh38]
Chr3:123427609 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5501-3C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313454] Chr3:123614352 [GRCh38]
Chr3:123333199 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2462+5G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000707577]|Aortic aneurysm, familial thoracic 7 [RCV002476346]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798916]|not provided [RCV000598662] Chr3:123701433 [GRCh38]
Chr3:123420280 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2598C>T (p.Gly866=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001860230]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431759]|not provided [RCV000598835]|not specified [RCV002232716] Chr3:123700870 [GRCh38]
Chr3:123419717 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2701C>G (p.Leu901Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000531551]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431673]|not provided [RCV001540287] Chr3:123700767 [GRCh38]
Chr3:123419614 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.344G>A (p.Arg115His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000795823]|not provided [RCV000585612]|not specified [RCV003155241] Chr3:123752360 [GRCh38]
Chr3:123471207 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3652_3652+1del microsatellite Aortic aneurysm, familial thoracic 7 [RCV000551323] Chr3:123682223..123682224 [GRCh38]
Chr3:123401070..123401071 [GRCh37]
Chr3:3q21.1
pathogenic|uncertain significance
NM_053025.4(MYLK):c.2791_2792delinsAT (p.Arg931Met) indel Familial thoracic aortic aneurysm and aortic dissection [RCV002438545]|not provided [RCV000599478] Chr3:123700676..123700677 [GRCh38]
Chr3:123419523..123419524 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-185-18C>T single nucleotide variant not specified [RCV000601169] Chr3:123876635 [GRCh38]
Chr3:123595482 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002506404]|Congenital aneurysm of ascending aorta [RCV001796131] Chr3:123708883 [GRCh38]
Chr3:123427730 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2390+2T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000615028] Chr3:123707752 [GRCh38]
Chr3:123426599 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.1570G>A (p.Ala524Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313417]|not provided [RCV003441971]|not specified [RCV001805222] Chr3:123726025 [GRCh38]
Chr3:123444872 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2631G>A (p.Val877=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002060674]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313452]|not specified [RCV001823738] Chr3:123700837 [GRCh38]
Chr3:123419684 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1375G>A (p.Gly459Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001868128]|Aortic aneurysm, familial thoracic 7 [RCV002477358]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315068]|not provided [RCV001574782] Chr3:123733037 [GRCh38]
Chr3:123451884 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5715T>G (p.Gly1905=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001423726]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350483]|not provided [RCV000648750] Chr3:123614135 [GRCh38]
Chr3:123332982 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.-4G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002481277]|not specified [RCV000414280] Chr3:123831548 [GRCh38]
Chr3:123550395 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.554C>G (p.Thr185Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000807946]|not specified [RCV000414313] Chr3:123738931 [GRCh38]
Chr3:123457778 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000415627]|Connective tissue disorder [RCV000659931]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348140]|not provided [RCV001753851] Chr3:123793723 [GRCh38]
Chr3:123512570 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2096A>G (p.Asn699Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000534838]|Familial thoracic aortic aneurysm and aortic dissection [RCV002420491]|not provided [RCV001508502] Chr3:123708742 [GRCh38]
Chr3:123427589 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5287A>G (p.Met1763Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000537332] Chr3:123620288 [GRCh38]
Chr3:123339135 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4289-10_4289-9dup duplication Aortic aneurysm, familial thoracic 7 [RCV000541576]|Familial thoracic aortic aneurysm and aortic dissection [RCV002330938]|not specified [RCV000733357] Chr3:123649196..123649197 [GRCh38]
Chr3:123368043..123368044 [GRCh37]
Chr3:3q21.1
benign|likely benign|uncertain significance
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000755687] Chr3:123738980 [GRCh38]
Chr3:123457827 [GRCh37]
Chr3:3q21.1
likely pathogenic|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.3265_3266del (p.Lys1089fs) deletion Aortic aneurysm, familial thoracic 7 [RCV000537895] Chr3:123700202..123700203 [GRCh38]
Chr3:123419049..123419050 [GRCh37]
Chr3:3q21.1
pathogenic|uncertain significance
NM_053025.4(MYLK):c.2260T>C (p.Trp754Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000535750] Chr3:123707884 [GRCh38]
Chr3:123426731 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4014T>C (p.Pro1338=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000540686]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315009]|not provided [RCV001707735]|not specified [RCV003323610] Chr3:123657400 [GRCh38]
Chr3:123376247 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1028G>T (p.Ser343Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000541861]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315005] Chr3:123733968 [GRCh38]
Chr3:123452815 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2404G>A (p.Glu802Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000536683]|Aortic aneurysm, familial thoracic 7 [RCV002497169]|not provided [RCV002060345] Chr3:123701496 [GRCh38]
Chr3:123420343 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.830A>G (p.Asn277Ser) single nucleotide variant not provided [RCV000734959] Chr3:123734166 [GRCh38]
Chr3:123453013 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.465C>A (p.Ile155=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000530981]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315010]|not provided [RCV001546306] Chr3:123739020 [GRCh38]
Chr3:123457867 [GRCh37]
Chr3:3q21.1
likely benign
GRCh37/hg19 3q21.1(chr3:123477546-123688038)x1 copy number loss See cases [RCV000447030] Chr3:123477546..123688038 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648724]|Familial aortic aneurysms [RCV000417348]|not provided [RCV000494597] Chr3:123700284 [GRCh38]
Chr3:123419131 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1132C>G (p.Arg378Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000457454]|Aortic aneurysm, familial thoracic 7 [RCV002481333]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313130]|not provided [RCV001704521]|not specified [RCV003330678] Chr3:123733864 [GRCh38]
Chr3:123452711 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.755-12C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001146464]|Connective tissue disorder [RCV000659936]|not provided [RCV001810939]|not specified [RCV000441344] Chr3:123735428 [GRCh38]
Chr3:123454275 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.1785C>T (p.Ser595=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001079351]|Familial thoracic aortic aneurysm and aortic dissection [RCV002411390]|not provided [RCV000554910] Chr3:123722147 [GRCh38]
Chr3:123440994 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2009A>T (p.His670Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000558787]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418340]|not provided [RCV000441665] Chr3:123708829 [GRCh38]
Chr3:123427676 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=) single nucleotide variant not provided [RCV000417787] Chr3:123626901 [GRCh38]
Chr3:123345748 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1516+16C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002063342]|Aortic aneurysm, familial thoracic 7 [RCV002502555]|not provided [RCV001810931]|not specified [RCV000438132] Chr3:123732880 [GRCh38]
Chr3:123451727 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000464435]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769340]|not provided [RCV001580016]|not specified [RCV000424714] Chr3:123732896 [GRCh38]
Chr3:123451743 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.2133G>A (p.Thr711=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000862631]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418331]|not provided [RCV001696778] Chr3:123708705 [GRCh38]
Chr3:123427552 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2119C>T (p.Gln707Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001065127]|Aortic aneurysm, familial thoracic 7 [RCV002480290]|not provided [RCV000425459] Chr3:123708719 [GRCh38]
Chr3:123427566 [GRCh37]
Chr3:3q21.1
pathogenic|uncertain significance
NM_053025.4(MYLK):c.474G>T (p.Glu158Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000475089]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168654]|not provided [RCV000422448] Chr3:123739011 [GRCh38]
Chr3:123457858 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-127+7G>A single nucleotide variant not specified [RCV000436423] Chr3:123876552 [GRCh38]
Chr3:123595399 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2328G>A (p.Val776=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000863408]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298455]|not provided [RCV001712312] Chr3:123707816 [GRCh38]
Chr3:123426663 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5055C>T (p.Phe1685=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000871570]|Familial thoracic aortic aneurysm and aortic dissection [RCV002339080]|not specified [RCV000426579] Chr3:123629533 [GRCh38]
Chr3:123348380 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.-175T>C single nucleotide variant not specified [RCV000420274] Chr3:123876607 [GRCh38]
Chr3:123595454 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2183G>A (p.Arg728His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648717]|not provided [RCV000430859] Chr3:123707961 [GRCh38]
Chr3:123426808 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2462+7G>A single nucleotide variant not specified [RCV000444751] Chr3:123701431 [GRCh38]
Chr3:123420278 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4489_4493del (p.Ala1497fs) deletion Aortic aneurysm, familial thoracic 7 [RCV000462848] Chr3:123647350..123647354 [GRCh38]
Chr3:123366197..123366201 [GRCh37]
Chr3:3q21.1
pathogenic|likely pathogenic
NM_053025.4(MYLK):c.4207C>T (p.Arg1403Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000466538]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298493]|not provided [RCV002051854] Chr3:123657207 [GRCh38]
Chr3:123376054 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4225G>A (p.Val1409Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000463109]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329061]|not provided [RCV001840576] Chr3:123657189 [GRCh38]
Chr3:123376036 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1356C>T (p.Thr452=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000466893]|Familial thoracic aortic aneurysm and aortic dissection [RCV002383887] Chr3:123733056 [GRCh38]
Chr3:123451903 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3462C>T (p.Ser1154=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000459506]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298531]|not specified [RCV000506464] Chr3:123692838 [GRCh38]
Chr3:123411685 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000463321]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168906] Chr3:123700132 [GRCh38]
Chr3:123418979 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.4170C>T (p.Asn1390=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000470733]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298533]|not provided [RCV001712320] Chr3:123657244 [GRCh38]
Chr3:123376091 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3449-11_3449-9del microsatellite Aortic aneurysm, familial thoracic 7 [RCV001441662] Chr3:123692860..123692862 [GRCh38]
Chr3:123411707..123411709 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5368+13_5368+21del deletion Aortic aneurysm, familial thoracic 7 [RCV002063740]|Connective tissue disorder [RCV000659951]|not provided [RCV001810971]|not specified [RCV000484052] Chr3:123620186..123620194 [GRCh38]
Chr3:123339033..123339041 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000467332]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770616]|MYLK-related condition [RCV003401479]|not provided [RCV000756399] Chr3:123647278 [GRCh38]
Chr3:123366125 [GRCh37]
Chr3:3q21.1
likely pathogenic|uncertain significance
NM_053025.4(MYLK):c.4941C>T (p.Ile1647=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000470973]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298532]|not provided [RCV001574189] Chr3:123638091 [GRCh38]
Chr3:123356938 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000471078]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170113]|not provided [RCV001721537]|not specified [RCV000610192] Chr3:123626935 [GRCh38]
Chr3:123345782 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.2663G>A (p.Arg888His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000690992]|Familial thoracic aortic aneurysm and aortic dissection [RCV002466518]|not provided [RCV000480103] Chr3:123700805 [GRCh38]
Chr3:123419652 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3916G>A (p.Gly1306Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000459888] Chr3:123664174 [GRCh38]
Chr3:123383021 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1396G>A (p.Asp466Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000463774] Chr3:123733016 [GRCh38]
Chr3:123451863 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4335C>T (p.Pro1445=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000475029]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329129]|not provided [RCV001564623] Chr3:123649051 [GRCh38]
Chr3:123367898 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3193G>C (p.Glu1065Gln) single nucleotide variant not provided [RCV000480510] Chr3:123700275 [GRCh38]
Chr3:123419122 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5374G>A (p.Val1792Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000463934]|Aortic aneurysm, familial thoracic 7 [RCV002489058]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348319]|not provided [RCV002291634] Chr3:123618765 [GRCh38]
Chr3:123337612 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1167G>A (p.Leu389=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000464077]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329130] Chr3:123733829 [GRCh38]
Chr3:123452676 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5119C>T (p.Arg1707Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000467734] Chr3:123626937 [GRCh38]
Chr3:123345784 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4916G>C (p.Gly1639Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000471553]|Aortic aneurysm, familial thoracic 7 [RCV002480413]|Inborn genetic diseases [RCV002523318] Chr3:123638116 [GRCh38]
Chr3:123356963 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.711C>T (p.Asn237=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000475167]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170674]|not provided [RCV001579819]|not specified [RCV003323558] Chr3:123737421 [GRCh38]
Chr3:123456268 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.617G>T (p.Arg206Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000456669]|MYLK-related condition [RCV003409630] Chr3:123737515 [GRCh38]
Chr3:123456362 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.463A>G (p.Ile155Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000456784] Chr3:123739022 [GRCh38]
Chr3:123457869 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000460571]|Connective tissue disorder [RCV000659940]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313176]|not provided [RCV001721500]|not specified [RCV000482145] Chr3:123725986 [GRCh38]
Chr3:123444833 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3397C>T (p.Leu1133=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000456839] Chr3:123700071 [GRCh38]
Chr3:123418918 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4397T>C (p.Ile1466Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000460668]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329060] Chr3:123648989 [GRCh38]
Chr3:123367836 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3899C>T (p.Ala1300Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000464329]|Inborn genetic diseases [RCV002526422] Chr3:123664191 [GRCh38]
Chr3:123383038 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4246A>G (p.Ser1416Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000457102] Chr3:123657168 [GRCh38]
Chr3:123376015 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4715G>A (p.Gly1572Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000460947]|Familial thoracic aortic aneurysm and aortic dissection [RCV002339167] Chr3:123640409 [GRCh38]
Chr3:123359256 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2439C>G (p.Asn813Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000468542] Chr3:123701461 [GRCh38]
Chr3:123420308 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1433G>A (p.Arg478Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000472162] Chr3:123732979 [GRCh38]
Chr3:123451826 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000472608]|Aortic aneurysm, familial thoracic 7 [RCV002502598]|Atrial septal defect [RCV000582875]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313152]|not provided [RCV000756401]|not specified [RCV000455436] Chr3:123682239 [GRCh38]
Chr3:123401086 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000457297]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313175] Chr3:123722187 [GRCh38]
Chr3:123441034 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.2898C>T (p.Pro966=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000461268]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436501]|not provided [RCV001569302] Chr3:123700570 [GRCh38]
Chr3:123419417 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000472490]|Aortic aneurysm, familial thoracic 7 [RCV002489059]|Familial thoracic aortic aneurysm and aortic dissection [RCV002402275]|not provided [RCV001561533] Chr3:123722208 [GRCh38]
Chr3:123441055 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4813G>A (p.Asp1605Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000461486] Chr3:123640311 [GRCh38]
Chr3:123359158 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1359C>T (p.Pro453=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000468808]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313224] Chr3:123733053 [GRCh38]
Chr3:123451900 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.2584G>C (p.Glu862Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001856880]|not provided [RCV000486423] Chr3:123700884 [GRCh38]
Chr3:123419731 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.179C>T (p.Pro60Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000457727]|Familial thoracic aortic aneurysm and aortic dissection [RCV002411479] Chr3:123752525 [GRCh38]
Chr3:123471372 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2464G>A (p.Gly822Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000461567] Chr3:123701004 [GRCh38]
Chr3:123419851 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2061G>A (p.Pro687=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000461668]|not provided [RCV001712319] Chr3:123708777 [GRCh38]
Chr3:123427624 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.143C>G (p.Ala48Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000465436] Chr3:123793699 [GRCh38]
Chr3:123512546 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4289-9C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000469181]|not specified [RCV000611747] Chr3:123649203 [GRCh38]
Chr3:123368050 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.3121G>A (p.Ala1041Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000472877]|Aortic aneurysm, familial thoracic 7 [RCV002480415]|MYLK-related condition [RCV003418191]|not provided [RCV001552695] Chr3:123700347 [GRCh38]
Chr3:123419194 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2938dup (p.Asp980fs) duplication not specified [RCV000455934] Chr3:123700529..123700530 [GRCh38]
Chr3:123419376..123419377 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.463A>C (p.Ile155Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000472982] Chr3:123739022 [GRCh38]
Chr3:123457869 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.298G>A (p.Asp100Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000476921]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436436] Chr3:123752406 [GRCh38]
Chr3:123471253 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.159dup (p.Gly54fs) duplication not provided [RCV000478149] Chr3:123793682..123793683 [GRCh38]
Chr3:123512529..123512530 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5369-10T>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001079067]|Connective tissue disorder [RCV000659952]|not provided [RCV000523268] Chr3:123618780 [GRCh38]
Chr3:123337627 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3137C>T (p.Thr1046Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000473213]|not specified [RCV003114584] Chr3:123700331 [GRCh38]
Chr3:123419178 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.695C>T (p.Thr232Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000473270]|not provided [RCV001775810]|not specified [RCV003323548] Chr3:123737437 [GRCh38]
Chr3:123456284 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4221C>A (p.Ile1407=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000458563]|Aortic aneurysm, familial thoracic 7 [RCV002496832]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168907]|not specified [RCV000611178] Chr3:123657193 [GRCh38]
Chr3:123376040 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3824G>A (p.Arg1275Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000466129]|not provided [RCV000523772] Chr3:123666226 [GRCh38]
Chr3:123385073 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2983A>G (p.Asn995Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000469767]|Aortic aneurysm, familial thoracic 7 [RCV002480412]|not provided [RCV001753893] Chr3:123700485 [GRCh38]
Chr3:123419332 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1212C>A (p.Pro404=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000469884]|Familial thoracic aortic aneurysm and aortic dissection [RCV002356742]|not provided [RCV001707706] Chr3:123733784 [GRCh38]
Chr3:123452631 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000477311]|Familial thoracic aortic aneurysm and aortic dissection [RCV002374786] Chr3:123734095 [GRCh38]
Chr3:123452942 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.2458C>T (p.Pro820Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000477385]|Inborn genetic diseases [RCV002525580] Chr3:123701442 [GRCh38]
Chr3:123420289 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer) indel Aortic aneurysm, familial thoracic 7 [RCV000466368]|Aortic aneurysm, familial thoracic 7 [RCV002480414]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298494]|not provided [RCV001775811] Chr3:123733056..123733064 [GRCh38]
Chr3:123451903..123451911 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3545C>T (p.Ser1182Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000469933]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168815] Chr3:123692755 [GRCh38]
Chr3:123411602 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2595C>T (p.Asp865=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001851124]|not specified [RCV003330710] Chr3:123700873 [GRCh38]
Chr3:123419720 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.5166T>C (p.Asp1722=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000477622]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341101]|not specified [RCV003330709] Chr3:123626890 [GRCh38]
Chr3:123345737 [GRCh37]
Chr3:3q21.1
benign|likely benign
GRCh37/hg19 3q21.1(chr3:123288885-123426682)x3 copy number gain See cases [RCV000510475] Chr3:123288885..123426682 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001299975]|Aortic aneurysm, familial thoracic 7 [RCV002506236]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395227]|not provided [RCV001575716]|not specified [RCV000508515] Chr3:123732999 [GRCh38]
Chr3:123451846 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3838_3844dup (p.Glu1282fs) duplication Megacystis, microcolon, hypoperistalsis syndrome [RCV001804175]|Visceral myopathy 1 [RCV000508615] Chr3:123664245..123664246 [GRCh38]
Chr3:123383092..123383093 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.3985+5G>T single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 [RCV001804176]|Visceral myopathy 1 [RCV000508669] Chr3:123664100 [GRCh38]
Chr3:123382947 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.2481C>G (p.Ser827Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001325607]|Aortic aneurysm, familial thoracic 7 [RCV002475973]|not provided [RCV000494017] Chr3:123700987 [GRCh38]
Chr3:123419834 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2132C>T (p.Thr711Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001370965]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314850]|not provided [RCV000494155]|not specified [RCV003330726] Chr3:123708706 [GRCh38]
Chr3:123427553 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3832-9C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001395270]|not provided [RCV000868757]|not specified [RCV000505887] Chr3:123664267 [GRCh38]
Chr3:123383114 [GRCh37]
Chr3:3q21.1
benign|likely benign
Single allele variation not specified [RCV000506306] Chr3:123649196..123649197 [GRCh38]
Chr3:123368044..123368045 [GRCh37]
Chr3:3q21.1
benign
NM_053025.4(MYLK):c.4681G>C (p.Glu1561Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000490635]|not provided [RCV000585062] Chr3:123640443 [GRCh38]
Chr3:123359290 [GRCh37]
Chr3:3q21.1
likely pathogenic|likely benign|uncertain significance
NM_053025.4(MYLK):c.1209C>A (p.Ile403=) single nucleotide variant not provided [RCV000506553] Chr3:123733787 [GRCh38]
Chr3:123452634 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5238+22A>T single nucleotide variant not specified [RCV000506901] Chr3:123626796 [GRCh38]
Chr3:123345643 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648766]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341196]|not provided [RCV002264948]|not specified [RCV000506993] Chr3:123638150 [GRCh38]
Chr3:123356997 [GRCh37]
Chr3:3q21.1
benign|likely benign|uncertain significance
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000548227]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314886]|not provided [RCV001356273] Chr3:123752478 [GRCh38]
Chr3:123471325 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.992C>T (p.Thr331Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001865535]|Aortic aneurysm, familial thoracic 7 [RCV002481560]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170673]|not provided [RCV000493211]|not specified [RCV001269252] Chr3:123734004 [GRCh38]
Chr3:123452851 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000578292]|not provided [RCV001755964] Chr3:123733091 [GRCh38]
Chr3:123451938 [GRCh37]
Chr3:3q21.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3q21.1(chr3:123563319-123618911)x0 copy number loss See cases [RCV000510868] Chr3:123563319..123618911 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.4343A>T (p.Asp1448Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002525244]|not provided [RCV000519402] Chr3:123649043 [GRCh38]
Chr3:123367890 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1334T>G (p.Val445Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000555814]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384203] Chr3:123733078 [GRCh38]
Chr3:123451925 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3985+14C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002529535]|not specified [RCV000602629] Chr3:123664091 [GRCh38]
Chr3:123382938 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.164G>A (p.Arg55Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002531834]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313416] Chr3:123793678 [GRCh38]
Chr3:123512525 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3639G>A (p.Val1213=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000534286]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170119]|not provided [RCV001579511] Chr3:123682237 [GRCh38]
Chr3:123401084 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1669G>A (p.Ala557Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001367295]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313421]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 [RCV003446264]|not provided [RCV001775925] Chr3:123722263 [GRCh38]
Chr3:123441110 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3203A>G (p.Lys1068Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000557324]|Familial thoracic aortic aneurysm and aortic dissection [RCV003278907]|not specified [RCV002232088] Chr3:123700265 [GRCh38]
Chr3:123419112 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.608C>A (p.Pro203Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000539231]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358564]|not provided [RCV003231528] Chr3:123737524 [GRCh38]
Chr3:123456371 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4289-6C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000806777]|not specified [RCV000599700] Chr3:123649200 [GRCh38]
Chr3:123368047 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.1752A>G (p.Leu584=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648767]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313412]|not specified [RCV001375547] Chr3:123722180 [GRCh38]
Chr3:123441027 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.3463G>A (p.Val1155Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000558229]|Familial thoracic aortic aneurysm and aortic dissection [RCV003159891]|not provided [RCV001571755] Chr3:123692837 [GRCh38]
Chr3:123411684 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2291A>G (p.Asp764Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313436]|not provided [RCV002274071] Chr3:123707853 [GRCh38]
Chr3:123426700 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5695G>A (p.Val1899Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313441] Chr3:123614155 [GRCh38]
Chr3:123333002 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5673C>T (p.Ala1891=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001410280]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315066] Chr3:123614177 [GRCh38]
Chr3:123333024 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.562C>A (p.Pro188Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278409] Chr3:123738923 [GRCh38]
Chr3:123457770 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1955C>T (p.Pro652Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278410] Chr3:123708883 [GRCh38]
Chr3:123427730 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.758T>C (p.Leu253Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278411] Chr3:123735413 [GRCh38]
Chr3:123454260 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5264T>C (p.Ile1755Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001860400]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313424]|not provided [RCV001507632] Chr3:123620311 [GRCh38]
Chr3:123339158 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3652+10C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001429951]|not specified [RCV000600835] Chr3:123682214 [GRCh38]
Chr3:123401061 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.2627G>A (p.Arg876His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000768026]|Aortic aneurysm, familial thoracic 7 [RCV003224419]|Inborn genetic diseases [RCV002533934] Chr3:123700841 [GRCh38]
Chr3:123419688 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000555496]|Connective tissue disorder [RCV000659941]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431672]|not provided [RCV001591255] Chr3:123700775 [GRCh38]
Chr3:123419622 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.5214G>C (p.Lys1738Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000556798] Chr3:123626842 [GRCh38]
Chr3:123345689 [GRCh37]
Chr3:3q21.1
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_053025.4(MYLK):c.5631T>C (p.Asp1877=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000876187]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313456] Chr3:123614219 [GRCh38]
Chr3:123333066 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3985+20G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001855244]|not specified [RCV000601540] Chr3:123664085 [GRCh38]
Chr3:123382932 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.1710C>T (p.Ile570=) single nucleotide variant not specified [RCV000607230] Chr3:123722222 [GRCh38]
Chr3:123441069 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3526G>A (p.Ala1176Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001055876]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313445]|not provided [RCV001775926] Chr3:123692774 [GRCh38]
Chr3:123411621 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.345C>T (p.Arg115=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002060673]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313448] Chr3:123752359 [GRCh38]
Chr3:123471206 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1725G>A (p.Pro575=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002531835]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313422] Chr3:123722207 [GRCh38]
Chr3:123441054 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2760C>T (p.Ala920=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001504074]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438564]|not specified [RCV000607266] Chr3:123700708 [GRCh38]
Chr3:123419555 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.3472G>A (p.Glu1158Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002499008]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313451] Chr3:123692828 [GRCh38]
Chr3:123411675 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3511G>A (p.Val1171Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003300935] Chr3:123692789 [GRCh38]
Chr3:123411636 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1120C>T (p.Pro374Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313420] Chr3:123733876 [GRCh38]
Chr3:123452723 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1631G>A (p.Arg544Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001400549]|not specified [RCV000602126] Chr3:123725964 [GRCh38]
Chr3:123444811 [GRCh37]
Chr3:3q21.1
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_053025.4(MYLK):c.5489G>C (p.Cys1830Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000533705] Chr3:123618650 [GRCh38]
Chr3:123337497 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3653-10_3653-8del deletion Aortic aneurysm, familial thoracic 7 [RCV000559182]|not provided [RCV001591256]|not specified [RCV001527011] Chr3:123667195..123667197 [GRCh38]
Chr3:123386042..123386044 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3020C>T (p.Ala1007Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001296555]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313415] Chr3:123700448 [GRCh38]
Chr3:123419295 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648721]|Aortic aneurysm, familial thoracic 7 [RCV002491329]|Aortic dissection [RCV000735407]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313418]|not provided [RCV000762384] Chr3:123707995 [GRCh38]
Chr3:123426842 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1605C>T (p.Cys535=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002065365]|not specified [RCV000615221] Chr3:123725990 [GRCh38]
Chr3:123444837 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2607G>A (p.Val869=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002065426]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431797]|not provided [RCV001697924] Chr3:123700861 [GRCh38]
Chr3:123419708 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4031G>A (p.Arg1344Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001218825]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313434]|not provided [RCV001756009] Chr3:123657383 [GRCh38]
Chr3:123376230 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4367C>A (p.Thr1456Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313444] Chr3:123649019 [GRCh38]
Chr3:123367866 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.569C>T (p.Pro190Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001230782]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313458]|not provided [RCV003328609] Chr3:123738916 [GRCh38]
Chr3:123457763 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.-126-19C>G single nucleotide variant not specified [RCV000609812] Chr3:123831689 [GRCh38]
Chr3:123550536 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1239C>T (p.Phe413=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003160109]|not provided [RCV000880526]|not specified [RCV000612556] Chr3:123733757 [GRCh38]
Chr3:123452604 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001087472]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315007]|not provided [RCV000757531] Chr3:123708713 [GRCh38]
Chr3:123427560 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000540936]|Familial thoracic aortic aneurysm and aortic dissection [RCV002420490]|not provided [RCV001547759]|not specified [RCV001280554] Chr3:123733741 [GRCh38]
Chr3:123452588 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3052C>T (p.Gln1018Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313435] Chr3:123700416 [GRCh38]
Chr3:123419263 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001086815]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313439]|not provided [RCV000914206] Chr3:123707962 [GRCh38]
Chr3:123426809 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.2937G>A (p.Pro979=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002531837]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313438] Chr3:123700531 [GRCh38]
Chr3:123419378 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3210C>T (p.Asp1070=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000945364]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313432]|not provided [RCV001591388]|not specified [RCV001824845] Chr3:123700258 [GRCh38]
Chr3:123419105 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2070G>A (p.Thr690=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001498821]|Aortic aneurysm, familial thoracic 7 [RCV002491284]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170130]|not provided [RCV000875506]|not specified [RCV000610075] Chr3:123708768 [GRCh38]
Chr3:123427615 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.999G>T (p.Pro333=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001144540]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384318]|not specified [RCV000612763] Chr3:123733997 [GRCh38]
Chr3:123452844 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.2958T>C (p.Gly986=) single nucleotide variant not specified [RCV000615919] Chr3:123700510 [GRCh38]
Chr3:123419357 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1309+20G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003117390]|not specified [RCV000616034] Chr3:123733667 [GRCh38]
Chr3:123452514 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.-127+5T>C single nucleotide variant not specified [RCV000612838] Chr3:123876554 [GRCh38]
Chr3:123595401 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3126G>A (p.Lys1042=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002531836]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313427] Chr3:123700342 [GRCh38]
Chr3:123419189 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5237A>C (p.Gln1746Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313440] Chr3:123626819 [GRCh38]
Chr3:123345666 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4369G>A (p.Glu1457Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313459] Chr3:123649017 [GRCh38]
Chr3:123367864 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1330G>A (p.Glu444Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000765704]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313425] Chr3:123733082 [GRCh38]
Chr3:123451929 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3062G>C (p.Gly1021Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001063694]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313428] Chr3:123700406 [GRCh38]
Chr3:123419253 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3805T>C (p.Cys1269Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313443] Chr3:123666245 [GRCh38]
Chr3:123385092 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.290A>C (p.His97Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313433] Chr3:123752414 [GRCh38]
Chr3:123471261 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2100C>T (p.Ser700=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002420632]|not specified [RCV000616230] Chr3:123708738 [GRCh38]
Chr3:123427585 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4995C>T (p.Asn1665=) single nucleotide variant not specified [RCV000602083] Chr3:123629593 [GRCh38]
Chr3:123348440 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2701C>T (p.Leu901=) single nucleotide variant not specified [RCV000610453] Chr3:123700767 [GRCh38]
Chr3:123419614 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2130C>G (p.Leu710=) single nucleotide variant not specified [RCV000616701] Chr3:123708708 [GRCh38]
Chr3:123427555 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4289-5C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001369691]|not provided [RCV000585236] Chr3:123649199 [GRCh38]
Chr3:123368046 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3449-15A>G single nucleotide variant not specified [RCV000610844] Chr3:123692866 [GRCh38]
Chr3:123411713 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1359C>G (p.Pro453=) single nucleotide variant not specified [RCV000613735] Chr3:123733053 [GRCh38]
Chr3:123451900 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.312T>C (p.Tyr104=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003302945]|not specified [RCV000611095] Chr3:123752392 [GRCh38]
Chr3:123471239 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1041G>T (p.Leu347=) single nucleotide variant not specified [RCV000613954] Chr3:123733955 [GRCh38]
Chr3:123452802 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.492T>A (p.Ala164=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003162734]|not specified [RCV000614047] Chr3:123738993 [GRCh38]
Chr3:123457840 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3660G>A (p.Ala1220=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000535227]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456198]|not provided [RCV001562944] Chr3:123667180 [GRCh38]
Chr3:123386027 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001078665]|not provided [RCV000757535] Chr3:123752444 [GRCh38]
Chr3:123471291 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.2334C>T (p.Thr778=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278402] Chr3:123707810 [GRCh38]
Chr3:123426657 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1462A>C (p.Thr488Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278403] Chr3:123732950 [GRCh38]
Chr3:123451797 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1954C>T (p.Pro652Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278404] Chr3:123708884 [GRCh38]
Chr3:123427731 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4070A>G (p.Tyr1357Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278407] Chr3:123657344 [GRCh38]
Chr3:123376191 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2547G>C (p.Leu849=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278417] Chr3:123700921 [GRCh38]
Chr3:123419768 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3537G>A (p.Ala1179=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002065372]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456373]|not provided [RCV003424181]|not specified [RCV000608921] Chr3:123692763 [GRCh38]
Chr3:123411610 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000866374]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160088]|not provided [RCV001697546] Chr3:123664193 [GRCh38]
Chr3:123383040 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.1875C>G (p.Phe625Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003311150] Chr3:123709823 [GRCh38]
Chr3:123428670 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2521G>A (p.Gly841Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003311151] Chr3:123700947 [GRCh38]
Chr3:123419794 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1326G>A (p.Lys442=) single nucleotide variant not specified [RCV000609118] Chr3:123733086 [GRCh38]
Chr3:123451933 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.755-4C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000540158] Chr3:123735420 [GRCh38]
Chr3:123454267 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.170G>A (p.Arg57Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003311144] Chr3:123752534 [GRCh38]
Chr3:123471381 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1625T>C (p.Val542Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003311145] Chr3:123725970 [GRCh38]
Chr3:123444817 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5675C>G (p.Thr1892Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003311148] Chr3:123614175 [GRCh38]
Chr3:123333022 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4869C>T (p.Gly1623=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003311149] Chr3:123638163 [GRCh38]
Chr3:123357010 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1821G>A (p.Arg607=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001435332]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313442] Chr3:123709877 [GRCh38]
Chr3:123428724 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3868G>A (p.Glu1290Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648736]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313410]|not provided [RCV001566086] Chr3:123664222 [GRCh38]
Chr3:123383069 [GRCh37]
Chr3:3q21.1
benign|uncertain significance
NM_053025.4(MYLK):c.4602C>T (p.Ile1534=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001476813]|Aortic aneurysm, familial thoracic 7 [RCV002491330]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770615]|not provided [RCV001576397] Chr3:123647241 [GRCh38]
Chr3:123366088 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5115-7C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002063002]|not specified [RCV000602141] Chr3:123626948 [GRCh38]
Chr3:123345795 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1651+17C>T single nucleotide variant not specified [RCV000604549] Chr3:123725927 [GRCh38]
Chr3:123444774 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1221C>A (p.Gly407=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001476864]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313426]|not provided [RCV000999539] Chr3:123733775 [GRCh38]
Chr3:123452622 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3844G>A (p.Glu1282Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001369145]|Aortic aneurysm, familial thoracic 7 [RCV002499006]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313431]|not provided [RCV001770553] Chr3:123664246 [GRCh38]
Chr3:123383093 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4341T>G (p.Val1447=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313437] Chr3:123649045 [GRCh38]
Chr3:123367892 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3277_3278del (p.Ser1093fs) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002313449] Chr3:123700190..123700191 [GRCh38]
Chr3:123419037..123419038 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1957G>A (p.Glu653Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648712]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769337]|not provided [RCV001559463] Chr3:123708881 [GRCh38]
Chr3:123427728 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2739C>T (p.Asp913=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001432675]|not specified [RCV000600148] Chr3:123700729 [GRCh38]
Chr3:123419576 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5706G>A (p.Met1902Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002531838]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313457] Chr3:123614144 [GRCh38]
Chr3:123332991 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2860C>T (p.Arg954Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000688485]|Aortic aneurysm, familial thoracic 7 [RCV002483733]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313411] Chr3:123700608 [GRCh38]
Chr3:123419455 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3076G>A (p.Val1026Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648741]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313414]|not provided [RCV001584442] Chr3:123700392 [GRCh38]
Chr3:123419239 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.161G>A (p.Gly54Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002499007]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313450]|not provided [RCV001577928] Chr3:123793681 [GRCh38]
Chr3:123512528 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3696G>A (p.Pro1232=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000886769]|not specified [RCV000600864] Chr3:123667144 [GRCh38]
Chr3:123385991 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1310-20T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002063986]|not provided [RCV001579596]|not specified [RCV000606095] Chr3:123733122 [GRCh38]
Chr3:123451969 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.3856G>A (p.Val1286Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648709] Chr3:123664234 [GRCh38]
Chr3:123383081 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1990C>T (p.Gln664Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648710] Chr3:123708848 [GRCh38]
Chr3:123427695 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.560G>A (p.Arg187Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648713] Chr3:123738925 [GRCh38]
Chr3:123457772 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4001dup (p.Ala1335fs) duplication Aortic aneurysm, familial thoracic 7 [RCV000648714] Chr3:123657412..123657413 [GRCh38]
Chr3:123376259..123376260 [GRCh37]
Chr3:3q21.1
pathogenic|likely pathogenic
NM_053025.4(MYLK):c.1289C>G (p.Thr430Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648715] Chr3:123733707 [GRCh38]
Chr3:123452554 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.649G>T (p.Val217Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648716]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162958] Chr3:123737483 [GRCh38]
Chr3:123456330 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4992C>A (p.Asp1664Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648718] Chr3:123629596 [GRCh38]
Chr3:123348443 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648719]|Aortic aneurysm, familial thoracic 7 [RCV002483870]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798951]|not provided [RCV001508503] Chr3:123708778 [GRCh38]
Chr3:123427625 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3823C>T (p.Arg1275Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648720] Chr3:123666227 [GRCh38]
Chr3:123385074 [GRCh37]
Chr3:3q21.1
pathogenic|uncertain significance
NM_053025.4(MYLK):c.1254C>G (p.Ser418Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648722]|Aortic aneurysm, familial thoracic 7 [RCV002477437]|Familial thoracic aortic aneurysm and aortic dissection [RCV002422369]|not provided [RCV001569358] Chr3:123733742 [GRCh38]
Chr3:123452589 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1480G>C (p.Gly494Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648723] Chr3:123732932 [GRCh38]
Chr3:123451779 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648726]|Aortic aneurysm, familial thoracic 7 [RCV002483871]|Familial thoracic aortic aneurysm and aortic dissection [RCV002388119]|not specified [RCV003323656] Chr3:123725983 [GRCh38]
Chr3:123444830 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5003_5017dup (p.Glu1668_Asn1672dup) duplication Aortic aneurysm, familial thoracic 7 [RCV000648727] Chr3:123629570..123629571 [GRCh38]
Chr3:123348417..123348418 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4748A>G (p.His1583Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648728] Chr3:123640376 [GRCh38]
Chr3:123359223 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3120_3155del (p.1032_1043AETLKPMGNAKP[1]) deletion Aortic aneurysm, familial thoracic 7 [RCV000648729] Chr3:123700313..123700348 [GRCh38]
Chr3:123419160..123419195 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2838C>G (p.His946Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648730]|Connective tissue disorder [RCV000659942]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162959] Chr3:123700630 [GRCh38]
Chr3:123419477 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4619+2T>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648731] Chr3:123647222 [GRCh38]
Chr3:123366069 [GRCh37]
Chr3:3q21.1
likely pathogenic|uncertain significance
NM_053025.4(MYLK):c.1003A>G (p.Thr335Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648732] Chr3:123733993 [GRCh38]
Chr3:123452840 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.304G>C (p.Gly102Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648733]|Familial thoracic aortic aneurysm and aortic dissection [RCV002449067]|not provided [RCV001703222] Chr3:123752400 [GRCh38]
Chr3:123471247 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648734]|Aortic aneurysm, familial thoracic 7 [RCV002483872]|Familial thoracic aortic aneurysm and aortic dissection [RCV002397280]|not provided [RCV002274080]|not specified [RCV003155260] Chr3:123752535 [GRCh38]
Chr3:123471382 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2085C>G (p.Cys695Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648735] Chr3:123708753 [GRCh38]
Chr3:123427600 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2495G>A (p.Cys832Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648737] Chr3:123700973 [GRCh38]
Chr3:123419820 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3836A>G (p.Gln1279Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648738]|Aortic aneurysm, familial thoracic 7 [RCV002493030] Chr3:123664254 [GRCh38]
Chr3:123383101 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.728C>G (p.Ser243Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648739] Chr3:123737404 [GRCh38]
Chr3:123456251 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648740]|Connective tissue disorder [RCV000680572]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440340]|not provided [RCV003128678] Chr3:123700436 [GRCh38]
Chr3:123419283 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648742]|Aortic aneurysm, familial thoracic 7 [RCV002493031]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358855]|not provided [RCV001592806] Chr3:123664189 [GRCh38]
Chr3:123383036 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2652G>A (p.Glu884=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648744]|Aortic aneurysm, familial thoracic 7 [RCV002493032]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150318] Chr3:123700816 [GRCh38]
Chr3:123419663 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5562C>T (p.His1854=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001394827]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343335] Chr3:123614288 [GRCh38]
Chr3:123333135 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2485G>A (p.Glu829Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648749]|Aortic aneurysm, familial thoracic 7 [RCV002499107]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424494]|not specified [RCV003330863] Chr3:123700983 [GRCh38]
Chr3:123419830 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.225C>T (p.Ser75=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648752] Chr3:123752479 [GRCh38]
Chr3:123471326 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.963G>A (p.Lys321=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648753]|Aortic aneurysm, familial thoracic 7 [RCV002493033] Chr3:123734033 [GRCh38]
Chr3:123452880 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2918C>T (p.Pro973Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648754]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440341] Chr3:123700550 [GRCh38]
Chr3:123419397 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.4289-3del deletion Aortic aneurysm, familial thoracic 7 [RCV000648756]|not provided [RCV000998133] Chr3:123649197 [GRCh38]
Chr3:123368044 [GRCh37]
Chr3:3q21.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1473C>T (p.Asn491=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648757]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162960] Chr3:123732939 [GRCh38]
Chr3:123451786 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5114+7A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648758]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770610] Chr3:123629467 [GRCh38]
Chr3:123348314 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.4908G>A (p.Glu1636=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648760] Chr3:123638124 [GRCh38]
Chr3:123356971 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4920C>T (p.Tyr1640=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001082059]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303058]|not provided [RCV000842288]|not specified [RCV001251305] Chr3:123638112 [GRCh38]
Chr3:123356959 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1420C>T (p.Leu474=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001464874]|Familial thoracic aortic aneurysm and aortic dissection [RCV002388120] Chr3:123732992 [GRCh38]
Chr3:123451839 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4131G>A (p.Thr1377=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648764]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150319] Chr3:123657283 [GRCh38]
Chr3:123376130 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3495A>G (p.Arg1165=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648765]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458119] Chr3:123692805 [GRCh38]
Chr3:123411652 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.716C>T (p.Ser239Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648768]|Familial thoracic aortic aneurysm and aortic dissection [RCV002369727]|not provided [RCV001569000] Chr3:123737416 [GRCh38]
Chr3:123456263 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.96C>T (p.Ala32=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648770] Chr3:123793746 [GRCh38]
Chr3:123512593 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4392C>T (p.Tyr1464=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648771]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303059]|not provided [RCV003117455]|not specified [RCV003323657] Chr3:123648994 [GRCh38]
Chr3:123367841 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1212C>T (p.Pro404=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000648772] Chr3:123733784 [GRCh38]
Chr3:123452631 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4674G>A (p.Thr1558=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001423740]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380633]|not specified [RCV000601130] Chr3:123640450 [GRCh38]
Chr3:123359297 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4915G>A (p.Gly1639Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002060786]|Inborn genetic diseases [RCV002534288]|not provided [RCV000658426] Chr3:123638117 [GRCh38]
Chr3:123356964 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2326G>A (p.Val776Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001344096]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442379]|not provided [RCV000658972] Chr3:123707818 [GRCh38]
Chr3:123426665 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000800101]|Aortic aneurysm, familial thoracic 7 [RCV002499137]|Connective tissue disorder [RCV000659946]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352072] Chr3:123667145 [GRCh38]
Chr3:123385992 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2863T>A (p.Ser955Thr) single nucleotide variant Connective tissue disorder [RCV000659943] Chr3:123700605 [GRCh38]
Chr3:123419452 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5435C>T (p.Ser1812Phe) single nucleotide variant Connective tissue disorder [RCV000659953] Chr3:123618704 [GRCh38]
Chr3:123337551 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.373+14G>A single nucleotide variant Connective tissue disorder [RCV000659932] Chr3:123752317 [GRCh38]
Chr3:123471164 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3652+7A>G single nucleotide variant Connective tissue disorder [RCV000659945] Chr3:123682217 [GRCh38]
Chr3:123401064 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5253T>C (p.Ala1751=) single nucleotide variant not provided [RCV000658969] Chr3:123620322 [GRCh38]
Chr3:123339169 [GRCh37]
Chr3:3q21.1
uncertain significance
GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1 copy number loss not provided [RCV000682303] Chr3:122698091..125036994 [GRCh37]
Chr3:3q21.1-21.2
uncertain significance
NM_053025.4(MYLK):c.845A>G (p.Glu282Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000698297]|not provided [RCV002462038] Chr3:123734151 [GRCh38]
Chr3:123452998 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000698556]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442485]|not provided [RCV001546111] Chr3:123734154 [GRCh38]
Chr3:123453001 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000864191]|Connective tissue disorder [RCV000680567]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798958] Chr3:123640381 [GRCh38]
Chr3:123359228 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity
NM_053025.4(MYLK):c.4308G>A (p.Glu1436=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003117486]|Connective tissue disorder [RCV000680568]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303102] Chr3:123649175 [GRCh38]
Chr3:123368022 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1651+14G>A single nucleotide variant Connective tissue disorder [RCV000680574] Chr3:123725930 [GRCh38]
Chr3:123444777 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5238+12G>T single nucleotide variant Connective tissue disorder [RCV000680565] Chr3:123626806 [GRCh38]
Chr3:123345653 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001861883]|Connective tissue disorder [RCV000680570]|not provided [RCV002051882]|not specified [RCV001174756] Chr3:123657146 [GRCh38]
Chr3:123375993 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001236066]|Connective tissue disorder [RCV000680577]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769345]|not provided [RCV001771926] Chr3:123752475 [GRCh38]
Chr3:123471322 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3112A>G (p.Met1038Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000687201]|not provided [RCV001592867] Chr3:123700356 [GRCh38]
Chr3:123419203 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000701486]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343535]|not provided [RCV001575746]|not specified [RCV003330913] Chr3:123620273 [GRCh38]
Chr3:123339120 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.4415+1G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000695043] Chr3:123648970 [GRCh38]
Chr3:123367817 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.4213C>T (p.Arg1405Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000687623]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331332]|not provided [RCV001775955] Chr3:123657201 [GRCh38]
Chr3:123376048 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2777G>A (p.Arg926His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000688684] Chr3:123700691 [GRCh38]
Chr3:123419538 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000688896]|Aortic aneurysm, familial thoracic 7 [RCV002493164]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458214]|not provided [RCV001579632]|not specified [RCV001823743] Chr3:123682239 [GRCh38]
Chr3:123401086 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.468G>A (p.Trp156Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000691818] Chr3:123739017 [GRCh38]
Chr3:123457864 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5587G>A (p.Gly1863Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000705977] Chr3:123614263 [GRCh38]
Chr3:123333110 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5041G>T (p.Asp1681Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000694196] Chr3:123629547 [GRCh38]
Chr3:123348394 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2060C>G (p.Pro687Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000689177]|Familial thoracic aortic aneurysm and aortic dissection [RCV002422486] Chr3:123708778 [GRCh38]
Chr3:123427625 [GRCh37]
Chr3:3q21.1
uncertain significance
NC_000003.12:g.(?_123682204)_(123682330_?)del deletion Aortic aneurysm, familial thoracic 7 [RCV000708258] Chr3:123682204..123682330 [GRCh38]
Chr3:123401051..123401177 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1123G>A (p.Ala375Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000699844]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163241]|not provided [RCV003133553] Chr3:123733873 [GRCh38]
Chr3:123452720 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2509G>C (p.Gly837Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000700541] Chr3:123700959 [GRCh38]
Chr3:123419806 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.49C>T (p.Leu17Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000703836] Chr3:123793793 [GRCh38]
Chr3:123512640 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000706411]|not provided [RCV001563573] Chr3:123614148 [GRCh38]
Chr3:123332995 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3133G>A (p.Glu1045Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000692465]|Aortic aneurysm, familial thoracic 7 [RCV002477561]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325384]|not provided [RCV003156282] Chr3:123700335 [GRCh38]
Chr3:123419182 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2305G>A (p.Glu769Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000697451] Chr3:123707839 [GRCh38]
Chr3:123426686 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.4731C>G (p.His1577Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000687401] Chr3:123640393 [GRCh38]
Chr3:123359240 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1651+1G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000704027] Chr3:123725943 [GRCh38]
Chr3:123444790 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.208G>A (p.Gly70Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000694950]|Aortic aneurysm, familial thoracic 7 [RCV002485683]|Familial thoracic aortic aneurysm and aortic dissection [RCV002422522]|not provided [RCV001569306] Chr3:123752496 [GRCh38]
Chr3:123471343 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3832-8G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000692869]|Aortic aneurysm, familial thoracic 7 [RCV003224378]|not provided [RCV001553457] Chr3:123664266 [GRCh38]
Chr3:123383113 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3433A>G (p.Ile1145Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000690170] Chr3:123700035 [GRCh38]
Chr3:123418882 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2599G>A (p.Glu867Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000690206]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424614] Chr3:123700869 [GRCh38]
Chr3:123419716 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1693G>A (p.Val565Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000693227]|not provided [RCV003151805] Chr3:123722239 [GRCh38]
Chr3:123441086 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2492T>G (p.Leu831Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000693582] Chr3:123700976 [GRCh38]
Chr3:123419823 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1226G>A (p.Arg409Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000691058] Chr3:123733770 [GRCh38]
Chr3:123452617 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2165G>A (p.Trp722Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000696245] Chr3:123707979 [GRCh38]
Chr3:123426826 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2804C>T (p.Pro935Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000700586] Chr3:123700664 [GRCh38]
Chr3:123419511 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2085C>T (p.Cys695=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000703402] Chr3:123708753 [GRCh38]
Chr3:123427600 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2741A>G (p.Asp914Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000694445]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440469] Chr3:123700727 [GRCh38]
Chr3:123419574 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.901C>A (p.Gln301Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000696974] Chr3:123734095 [GRCh38]
Chr3:123452942 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1684G>A (p.Glu562Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000694561] Chr3:123722248 [GRCh38]
Chr3:123441095 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.568C>T (p.Pro190Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000692261] Chr3:123738917 [GRCh38]
Chr3:123457764 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2605G>A (p.Val869Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000806447]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769333] Chr3:123700863 [GRCh38]
Chr3:123419710 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1775T>C (p.Val592Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002487568]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769338] Chr3:123722157 [GRCh38]
Chr3:123441004 [GRCh37]
Chr3:3q21.1
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_053025.4(MYLK):c.1941A>C (p.Ser647=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001882590]|not provided [RCV001532491] Chr3:123709757 [GRCh38]
Chr3:123428604 [GRCh37]
Chr3:3q21.1
uncertain significance
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541924] Chr3:120247726..128319968 [GRCh37]
Chr3:3q13.33-21.3
pathogenic
NM_053025.4(MYLK):c.177C>T (p.Tyr59=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001411396] Chr3:123752527 [GRCh38]
Chr3:123471374 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4763C>T (p.Pro1588Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000853341]|Inborn genetic diseases [RCV002538875] Chr3:123640361 [GRCh38]
Chr3:123359208 [GRCh37]
Chr3:3q21.1
likely pathogenic|uncertain significance
NM_053025.4(MYLK):c.3063G>A (p.Gly1021=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001458757] Chr3:123700405 [GRCh38]
Chr3:123419252 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3396G>A (p.Thr1132=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001463002]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454015] Chr3:123700072 [GRCh38]
Chr3:123418919 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4538T>C (p.Met1513Thr) single nucleotide variant Inborn genetic diseases [RCV002533905]|not provided [RCV000762380] Chr3:123647305 [GRCh38]
Chr3:123366152 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4058_4060del (p.Tyr1353_Gly1354delinsCys) deletion not provided [RCV000762381] Chr3:123657354..123657356 [GRCh38]
Chr3:123376201..123376203 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2069C>T (p.Thr690Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000814496]|Aortic aneurysm, familial thoracic 7 [RCV002493391]|Familial thoracic aortic aneurysm and aortic dissection [RCV003166027]|not provided [RCV000762385] Chr3:123708769 [GRCh38]
Chr3:123427616 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5514C>T (p.Pro1838=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001085937]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343614]|not provided [RCV000762378] Chr3:123614336 [GRCh38]
Chr3:123333183 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2740G>T (p.Asp914Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003279046]|not provided [RCV000762383] Chr3:123700728 [GRCh38]
Chr3:123419575 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-279G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001146581] Chr3:123884299 [GRCh38]
Chr3:123603146 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4154G>A (p.Arg1385His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002477738]|Familial thoracic aortic aneurysm and aortic dissection [RCV003166007]|not provided [RCV000756398] Chr3:123657260 [GRCh38]
Chr3:123376107 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3281A>T (p.Gln1094Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002501914]|Aortic aneurysm, familial thoracic 7 [RCV002570768]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324146]|not provided [RCV001568129] Chr3:123700187 [GRCh38]
Chr3:123419034 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2760C>G (p.Ala920=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001149004] Chr3:123700708 [GRCh38]
Chr3:123419555 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.616C>T (p.Arg206Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002359192]|MYLK-related condition [RCV003416400]|not provided [RCV001583053] Chr3:123737516 [GRCh38]
Chr3:123456363 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3066C>T (p.Pro1022=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001503590]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169127]|not provided [RCV000866241] Chr3:123700402 [GRCh38]
Chr3:123419249 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1516+9A>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002541539] Chr3:123732887 [GRCh38]
Chr3:123451734 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.609G>A (p.Pro203=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000948657]|not provided [RCV003117649] Chr3:123737523 [GRCh38]
Chr3:123456370 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1804+8C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000982113] Chr3:123722120 [GRCh38]
Chr3:123440967 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2355G>A (p.Gln785=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001500008] Chr3:123707789 [GRCh38]
Chr3:123426636 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4686C>T (p.Cys1562=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001471080] Chr3:123640438 [GRCh38]
Chr3:123359285 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5067C>T (p.Ser1689=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001089372]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345978]|not provided [RCV000866860] Chr3:123629521 [GRCh38]
Chr3:123348368 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5547C>T (p.Ile1849=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002539006] Chr3:123614303 [GRCh38]
Chr3:123333150 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3138C>T (p.Thr1046=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001427897]|not provided [RCV000975502] Chr3:123700330 [GRCh38]
Chr3:123419177 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.570G>A (p.Pro190=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001401457]|Familial thoracic aortic aneurysm and aortic dissection [RCV002346176] Chr3:123738915 [GRCh38]
Chr3:123457762 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1542C>G (p.Pro514=) single nucleotide variant not provided [RCV000901263] Chr3:123726053 [GRCh38]
Chr3:123444900 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5709G>A (p.Glu1903=) single nucleotide variant not provided [RCV000926352] Chr3:123614141 [GRCh38]
Chr3:123332988 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.374-4G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001421644] Chr3:123740005 [GRCh38]
Chr3:123458852 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.834A>G (p.Val278=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001422533] Chr3:123734162 [GRCh38]
Chr3:123453009 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5115-6T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001401441] Chr3:123626947 [GRCh38]
Chr3:123345794 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4818T>C (p.Phe1606=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001426148]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336990]|not provided [RCV000944523] Chr3:123640306 [GRCh38]
Chr3:123359153 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2733G>A (p.Ser911=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001149005]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307591]|not provided [RCV000863583] Chr3:123700735 [GRCh38]
Chr3:123419582 [GRCh37]
Chr3:3q21.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.5667A>G (p.Gly1889=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001454738] Chr3:123614183 [GRCh38]
Chr3:123333030 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3565+8G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000960388] Chr3:123692727 [GRCh38]
Chr3:123411574 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.933C>T (p.Asn311=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001434877] Chr3:123734063 [GRCh38]
Chr3:123452910 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2364T>C (p.His788=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000867392]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442831]|not provided [RCV001813806] Chr3:123707780 [GRCh38]
Chr3:123426627 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1A>G (p.Met1Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001058087]|not provided [RCV002223977] Chr3:123793841 [GRCh38]
Chr3:123512688 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5541_5544del (p.Ile1849fs) deletion Aortic aneurysm, familial thoracic 7 [RCV001055135] Chr3:123614306..123614309 [GRCh38]
Chr3:123333153..123333156 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1472A>G (p.Asn491Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001035412]|Familial thoracic aortic aneurysm and aortic dissection [RCV002391092]|not specified [RCV001553595] Chr3:123732940 [GRCh38]
Chr3:123451787 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3528T>C (p.Ala1176=) single nucleotide variant not specified [RCV001280586] Chr3:123692772 [GRCh38]
Chr3:123411619 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1873T>C (p.Phe625Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001060005] Chr3:123709825 [GRCh38]
Chr3:123428672 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.373+6T>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001039682]|not provided [RCV001563248] Chr3:123752325 [GRCh38]
Chr3:123471172 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.1689C>T (p.Ala563=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000869831]|Familial thoracic aortic aneurysm and aortic dissection [RCV002409073]|not specified [RCV002271592] Chr3:123722243 [GRCh38]
Chr3:123441090 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2854G>A (p.Asp952Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001038631]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434442] Chr3:123700614 [GRCh38]
Chr3:123419461 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5132C>G (p.Thr1711Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000768025]|Aortic aneurysm, familial thoracic 7 [RCV003224418]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343617] Chr3:123626924 [GRCh38]
Chr3:123345771 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5510A>C (p.Asp1837Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770609] Chr3:123614340 [GRCh38]
Chr3:123333187 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001869071]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770618]|not provided [RCV003117553]|not specified [RCV003323713] Chr3:123657230 [GRCh38]
Chr3:123376077 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.729G>A (p.Ser243=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002067446]|not provided [RCV000827349] Chr3:123737403 [GRCh38]
Chr3:123456250 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5529C>A (p.Phe1843Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770608] Chr3:123614321 [GRCh38]
Chr3:123333168 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3903C>A (p.Arg1301=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001405519]|Familial thoracic aortic aneurysm and aortic dissection [RCV002354737] Chr3:123664187 [GRCh38]
Chr3:123383034 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3657T>C (p.Asp1219=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001423438] Chr3:123667183 [GRCh38]
Chr3:123386030 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4845G>A (p.Ala1615=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001440409]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336940] Chr3:123638187 [GRCh38]
Chr3:123357034 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.156C>T (p.Phe52=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000865999] Chr3:123793686 [GRCh38]
Chr3:123512533 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3132C>T (p.Ala1044=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000863016]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170121]|not provided [RCV001560597] Chr3:123700336 [GRCh38]
Chr3:123419183 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2751G>A (p.Glu917=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001416528]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169141] Chr3:123700717 [GRCh38]
Chr3:123419564 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5501-7G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001428797] Chr3:123614356 [GRCh38]
Chr3:123333203 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1954C>G (p.Pro652Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001481772]|not provided [RCV000869078]|not specified [RCV001255495] Chr3:123708884 [GRCh38]
Chr3:123427731 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4791G>A (p.Thr1597=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000870438]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336821] Chr3:123640333 [GRCh38]
Chr3:123359180 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3449-9C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002539250] Chr3:123692860 [GRCh38]
Chr3:123411707 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2175T>C (p.Ser725=) single nucleotide variant not provided [RCV000941928] Chr3:123707969 [GRCh38]
Chr3:123426816 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3703+8G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001498509] Chr3:123667129 [GRCh38]
Chr3:123385976 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1839G>T (p.Leu613=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000865568]|Aortic aneurysm, familial thoracic 7 [RCV002495250]|Familial thoracic aortic aneurysm and aortic dissection [RCV002409035] Chr3:123709859 [GRCh38]
Chr3:123428706 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1629C>T (p.Pro543=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001418019] Chr3:123725966 [GRCh38]
Chr3:123444813 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.681C>T (p.Asp227=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001492570]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363278] Chr3:123737451 [GRCh38]
Chr3:123456298 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2853C>T (p.Val951=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001415792]|not provided [RCV000941094] Chr3:123700615 [GRCh38]
Chr3:123419462 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5616T>G (p.Val1872=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000862480] Chr3:123614234 [GRCh38]
Chr3:123333081 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2325C>T (p.Asp775=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001392602]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444971] Chr3:123707819 [GRCh38]
Chr3:123426666 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2811T>C (p.Thr937=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001505028] Chr3:123700657 [GRCh38]
Chr3:123419504 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5238+6G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001446488]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170112]|not provided [RCV000865600]|not specified [RCV001527010] Chr3:123626812 [GRCh38]
Chr3:123345659 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.1878G>A (p.Leu626=) single nucleotide variant not provided [RCV000862618] Chr3:123709820 [GRCh38]
Chr3:123428667 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5280T>G (p.Ser1760=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001451947]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345989] Chr3:123620295 [GRCh38]
Chr3:123339142 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1517-7C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000926006] Chr3:123726085 [GRCh38]
Chr3:123444932 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2889C>T (p.Ser963=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001464008] Chr3:123700579 [GRCh38]
Chr3:123419426 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2407T>C (p.Cys803Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000769334] Chr3:123701493 [GRCh38]
Chr3:123420340 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1673G>A (p.Arg558His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001036006]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769339] Chr3:123722259 [GRCh38]
Chr3:123441106 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4746G>A (p.Val1582=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770613] Chr3:123640378 [GRCh38]
Chr3:123359225 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4960C>T (p.Leu1654=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003311146] Chr3:123638072 [GRCh38]
Chr3:123356919 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.1885C>T (p.Leu629Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003311152] Chr3:123709813 [GRCh38]
Chr3:123428660 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.243G>A (p.Leu81=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000812795]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307515]|not provided [RCV001811500] Chr3:123752461 [GRCh38]
Chr3:123471308 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000817305]|Aortic aneurysm, familial thoracic 7 [RCV002478905]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345874] Chr3:123618693 [GRCh38]
Chr3:123337540 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.147C>T (p.Thr49=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002064646] Chr3:123793695 [GRCh38]
Chr3:123512542 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.423-8C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000820025] Chr3:123739070 [GRCh38]
Chr3:123457917 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.4471G>T (p.Ala1491Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000855690] Chr3:123647372 [GRCh38]
Chr3:123366219 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.2732C>T (p.Ser911Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000871272]|Inborn genetic diseases [RCV002539961] Chr3:123700736 [GRCh38]
Chr3:123419583 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2885C>G (p.Thr962Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000797912] Chr3:123700583 [GRCh38]
Chr3:123419430 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.710A>G (p.Asn237Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000802893] Chr3:123737422 [GRCh38]
Chr3:123456269 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.849G>A (p.Ser283=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001505746]|not provided [RCV000842316] Chr3:123734147 [GRCh38]
Chr3:123452994 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3863A>G (p.Asn1288Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000815079]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363123] Chr3:123664227 [GRCh38]
Chr3:123383074 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2911G>A (p.Val971Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000816341] Chr3:123700557 [GRCh38]
Chr3:123419404 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4567C>A (p.Gln1523Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000805118] Chr3:123647276 [GRCh38]
Chr3:123366123 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000818233]|Aortic aneurysm, familial thoracic 7 [RCV002495165]|Familial thoracic aortic aneurysm and aortic dissection [RCV002433998] Chr3:123700707 [GRCh38]
Chr3:123419554 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1865C>G (p.Ala622Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000821823]|Familial thoracic aortic aneurysm and aortic dissection [RCV002408986] Chr3:123709833 [GRCh38]
Chr3:123428680 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3577A>C (p.Ser1193Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000807639]|Aortic aneurysm, familial thoracic 7 [RCV002501091]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453814]|not provided [RCV001551778] Chr3:123682299 [GRCh38]
Chr3:123401146 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2571G>T (p.Gly857=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000818434] Chr3:123700897 [GRCh38]
Chr3:123419744 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.4603G>A (p.Val1535Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000795827]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334481] Chr3:123647240 [GRCh38]
Chr3:123366087 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1481G>C (p.Gly494Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000807982]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390617]|not provided [RCV001811497] Chr3:123732931 [GRCh38]
Chr3:123451778 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.848C>T (p.Ser283Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000798920]|Aortic aneurysm, familial thoracic 7 [RCV002495060]|Familial thoracic aortic aneurysm and aortic dissection [RCV003344055] Chr3:123734148 [GRCh38]
Chr3:123452995 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3565+3_3565+6del deletion Aortic aneurysm, familial thoracic 7 [RCV000806785] Chr3:123692729..123692732 [GRCh38]
Chr3:123411576..123411579 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3448+13G>A single nucleotide variant not provided [RCV000831173] Chr3:123700007 [GRCh38]
Chr3:123418854 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5070C>T (p.Asp1690=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002538250]|not provided [RCV000827036] Chr3:123629518 [GRCh38]
Chr3:123348365 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.506G>A (p.Arg169Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000811855]|not provided [RCV001776025] Chr3:123738979 [GRCh38]
Chr3:123457826 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3096_3131dup (p.1032_1043AETLKPMGNAKP[3]) duplication Aortic aneurysm, familial thoracic 7 [RCV000815430]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325604] Chr3:123700336..123700337 [GRCh38]
Chr3:123419183..123419184 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3507G>A (p.Lys1169=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002067481]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169065]|not provided [RCV000828345] Chr3:123692793 [GRCh38]
Chr3:123411640 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3315A>G (p.Gln1105=) single nucleotide variant not provided [RCV000998135] Chr3:123700153 [GRCh38]
Chr3:123419000 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4289-4C>A single nucleotide variant not provided [RCV000841603] Chr3:123649198 [GRCh38]
Chr3:123368045 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5649G>A (p.Lys1883=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001444030]|Familial thoracic aortic aneurysm and aortic dissection [RCV003344087]|not provided [RCV000842157] Chr3:123614201 [GRCh38]
Chr3:123333048 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4460G>A (p.Arg1487Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000823879] Chr3:123647383 [GRCh38]
Chr3:123366230 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1509A>G (p.Gln503=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000821332]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798985] Chr3:123732903 [GRCh38]
Chr3:123451750 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.*334C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001148762]|Aortic aneurysm, familial thoracic 7 [RCV002483876] Chr3:123613771 [GRCh38]
Chr3:123332618 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1009G>C (p.Val337Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000809493]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440740] Chr3:123733987 [GRCh38]
Chr3:123452834 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3350T>C (p.Leu1117Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000809528] Chr3:123700118 [GRCh38]
Chr3:123418965 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2899G>A (p.Val967Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001146203]|Aortic aneurysm, familial thoracic 7 [RCV002482279]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380853]|not provided [RCV003325544]|not specified [RCV003331052] Chr3:123700569 [GRCh38]
Chr3:123419416 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1672C>T (p.Arg558Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001146328]|Inborn genetic diseases [RCV003353176] Chr3:123722260 [GRCh38]
Chr3:123441107 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1480G>A (p.Gly494Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001149128]|Aortic aneurysm, familial thoracic 7 [RCV002497569]|not provided [RCV001586008] Chr3:123732932 [GRCh38]
Chr3:123451779 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.263C>G (p.Thr88Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000809937]|Aortic aneurysm, familial thoracic 7 [RCV002495115]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150351] Chr3:123752441 [GRCh38]
Chr3:123471288 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5382A>C (p.Gln1794His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000810757] Chr3:123618757 [GRCh38]
Chr3:123337604 [GRCh37]
Chr3:3q21.1
uncertain significance
GRCh37/hg19 3q21.1(chr3:123091866-123464992)x3 copy number gain not provided [RCV000845863] Chr3:123091866..123464992 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.372A>C (p.Glu124Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000810397] Chr3:123752332 [GRCh38]
Chr3:123471179 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4404G>A (p.Glu1468=) single nucleotide variant not provided [RCV000830804] Chr3:123648982 [GRCh38]
Chr3:123367829 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.*389G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001148761] Chr3:123613716 [GRCh38]
Chr3:123332563 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1798G>A (p.Val600Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001146327]|not provided [RCV001776121]|not specified [RCV001251292] Chr3:123722134 [GRCh38]
Chr3:123440981 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3715del (p.Gln1239fs) deletion Aortic aneurysm, familial thoracic 7 [RCV001065860] Chr3:123666335 [GRCh38]
Chr3:123385182 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.686G>A (p.Gly229Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000792967] Chr3:123737446 [GRCh38]
Chr3:123456293 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5567A>G (p.Gln1856Arg) single nucleotide variant not provided [RCV003314958] Chr3:123614283 [GRCh38]
Chr3:123333130 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000812179]|Aortic aneurysm, familial thoracic 7 [RCV002478887]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325586]|not provided [RCV002067397] Chr3:123700296 [GRCh38]
Chr3:123419143 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.429A>G (p.Arg143=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000863260]|Familial thoracic aortic aneurysm and aortic dissection [RCV002332773]|not provided [RCV001811514] Chr3:123739056 [GRCh38]
Chr3:123457903 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1698T>C (p.Ala566=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002067488]|not provided [RCV000828729] Chr3:123722234 [GRCh38]
Chr3:123441081 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5727GGAAGA[3] (p.Glu1913_Glu1914dup) microsatellite Aortic aneurysm, familial thoracic 7 [RCV000818530] Chr3:123614111..123614112 [GRCh38]
Chr3:123332958..123332959 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.774-3C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000797413] Chr3:123734225 [GRCh38]
Chr3:123453072 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2403C>T (p.Gly801=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000819117]|Aortic aneurysm, familial thoracic 7 [RCV002487821]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453873] Chr3:123701497 [GRCh38]
Chr3:123420344 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.1690G>A (p.Gly564Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000822735]|Familial thoracic aortic aneurysm and aortic dissection [RCV003483743]|not specified [RCV001585762] Chr3:123722242 [GRCh38]
Chr3:123441089 [GRCh37]
Chr3:3q21.1
uncertain significance|not provided
NM_053025.4(MYLK):c.4208G>A (p.Arg1403His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000794517] Chr3:123657206 [GRCh38]
Chr3:123376053 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5736A>G (p.Glu1912=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000869820] Chr3:123614114 [GRCh38]
Chr3:123332961 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4997A>G (p.Asp1666Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000803767]|Aortic aneurysm, familial thoracic 7 [RCV002507391]|not provided [RCV001759535] Chr3:123629591 [GRCh38]
Chr3:123348438 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5501-20G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002068596]|not provided [RCV000841635]|not specified [RCV001193597] Chr3:123614369 [GRCh38]
Chr3:123333216 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.69A>T (p.Arg23Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001419212]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372398] Chr3:123793773 [GRCh38]
Chr3:123512620 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.369A>T (p.Val123=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001087436]|not provided [RCV000842546] Chr3:123752335 [GRCh38]
Chr3:123471182 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4030C>T (p.Arg1344Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000824129]|Aortic aneurysm, familial thoracic 7 [RCV002501149]|not provided [RCV001759623] Chr3:123657384 [GRCh38]
Chr3:123376231 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001467051]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170127]|not provided [RCV001823183]|not specified [RCV001269096] Chr3:123707917 [GRCh38]
Chr3:123426764 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.2415C>G (p.Cys805Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001068068]|Aortic aneurysm, familial thoracic 7 [RCV002480428]|Familial thoracic aortic aneurysm and aortic dissection [RCV002445351]|not provided [RCV001759842] Chr3:123701485 [GRCh38]
Chr3:123420332 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1023T>G (p.Thr341=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001150631]|Familial thoracic aortic aneurysm and aortic dissection [RCV003293905] Chr3:123733973 [GRCh38]
Chr3:123452820 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.-214C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001146577] Chr3:123884234 [GRCh38]
Chr3:123603081 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-236C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001146579]|Aortic aneurysm, familial thoracic 7 [RCV002483873] Chr3:123884256 [GRCh38]
Chr3:123603103 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2391-6C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001499300] Chr3:123701515 [GRCh38]
Chr3:123420362 [GRCh37]
Chr3:3q21.1
likely benign
GRCh37/hg19 3q21.1(chr3:123455170-123487068)x1 copy number loss not provided [RCV000849887] Chr3:123455170..123487068 [GRCh37]
Chr3:3q21.1
uncertain significance
GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3 copy number gain not provided [RCV000848663] Chr3:121384741..123672180 [GRCh37]
Chr3:3q13.33-21.1
uncertain significance
NM_053025.4(MYLK):c.1159C>A (p.Pro387Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001230744] Chr3:123733837 [GRCh38]
Chr3:123452684 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3985+3G>A single nucleotide variant not specified [RCV001175606] Chr3:123664102 [GRCh38]
Chr3:123382949 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2440A>G (p.Ser814Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001202764] Chr3:123701460 [GRCh38]
Chr3:123420307 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3726G>C (p.Gln1242His) single nucleotide variant not specified [RCV001174757] Chr3:123666324 [GRCh38]
Chr3:123385171 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053031.4(MYLK):c.89-2_89del microsatellite not specified [RCV001174834] Chr3:123618767..123618769 [GRCh38]
Chr3:123337614..123337616 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2114G>A (p.Arg705His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001065015]|Aortic aneurysm, familial thoracic 7 [RCV002497459]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418535]|not provided [RCV002473189] Chr3:123708724 [GRCh38]
Chr3:123427571 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3131_3166del (p.1032AETLKPMGNAKP[1]) deletion Aortic aneurysm, familial thoracic 7 [RCV001216882]|Aortic aneurysm, familial thoracic 7 [RCV002484178] Chr3:123700302..123700337 [GRCh38]
Chr3:123419149..123419184 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3867C>T (p.Ser1289=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001305155]|Familial thoracic aortic aneurysm and aortic dissection [RCV002365898]|not specified [RCV001199856] Chr3:123664223 [GRCh38]
Chr3:123383070 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3247G>A (p.Gly1083Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001226849] Chr3:123700221 [GRCh38]
Chr3:123419068 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3682C>G (p.Pro1228Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001220651]|Aortic aneurysm, familial thoracic 7 [RCV002484200] Chr3:123667158 [GRCh38]
Chr3:123386005 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1566C>A (p.Asp522Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001237682]|Familial thoracic aortic aneurysm and aortic dissection [RCV003166476] Chr3:123726029 [GRCh38]
Chr3:123444876 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3933G>A (p.Leu1311=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001241190] Chr3:123664157 [GRCh38]
Chr3:123383004 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4301A>G (p.Glu1434Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001224955] Chr3:123649182 [GRCh38]
Chr3:123368029 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4406G>A (p.Arg1469Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001225143]|Aortic aneurysm, familial thoracic 7 [RCV002484221]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327534] Chr3:123648980 [GRCh38]
Chr3:123367827 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1979G>A (p.Gly660Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001209895] Chr3:123708859 [GRCh38]
Chr3:123427706 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1585C>G (p.Gln529Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001238493] Chr3:123726010 [GRCh38]
Chr3:123444857 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2462G>A (p.Arg821Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001241756]|Familial thoracic aortic aneurysm and aortic dissection [RCV002447202]|not provided [RCV001751479] Chr3:123701438 [GRCh38]
Chr3:123420285 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3874G>C (p.Gly1292Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001196705] Chr3:123664216 [GRCh38]
Chr3:123383063 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.739del (p.Glu247fs) deletion Aortic aneurysm, familial thoracic 7 [RCV001232993] Chr3:123737393 [GRCh38]
Chr3:123456240 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.835A>G (p.Ile279Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001205654] Chr3:123734161 [GRCh38]
Chr3:123453008 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.706G>A (p.Val236Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001146465]|Familial thoracic aortic aneurysm and aortic dissection [RCV003293902] Chr3:123737426 [GRCh38]
Chr3:123456273 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001299861]|Aortic aneurysm, familial thoracic 7 [RCV002491484]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170680]|not provided [RCV001563139]|not specified [RCV002298878] Chr3:123752454 [GRCh38]
Chr3:123471301 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1509A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001144077] Chr3:123612596 [GRCh38]
Chr3:123331443 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3295G>A (p.Ala1099Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003106276] Chr3:123700173 [GRCh38]
Chr3:123419020 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2365G>A (p.Ala789Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003104710] Chr3:123707779 [GRCh38]
Chr3:123426626 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.770A>G (p.Asn257Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003104621] Chr3:123735401 [GRCh38]
Chr3:123454248 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5628C>T (p.Asp1876=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003104610]|Familial thoracic aortic aneurysm and aortic dissection [RCV003341530] Chr3:123614222 [GRCh38]
Chr3:123333069 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2140+15C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002070445]|not specified [RCV001582382] Chr3:123708683 [GRCh38]
Chr3:123427530 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.5697G>A (p.Val1899=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002343770]|not specified [RCV001582406] Chr3:123614153 [GRCh38]
Chr3:123333000 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.661C>T (p.His221Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001882730]|Aortic aneurysm, familial thoracic 7 [RCV002495954]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370241]|not provided [RCV001590093] Chr3:123737471 [GRCh38]
Chr3:123456318 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4333C>T (p.Pro1445Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001873778]|not provided [RCV001532489] Chr3:123649053 [GRCh38]
Chr3:123367900 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2304C>T (p.Phe768=) single nucleotide variant not provided [RCV001532490] Chr3:123707840 [GRCh38]
Chr3:123426687 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3021A>C (p.Ala1007=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001418028] Chr3:123700447 [GRCh38]
Chr3:123419294 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4289-10C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001471091] Chr3:123649204 [GRCh38]
Chr3:123368051 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.509T>C (p.Val170Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000862846] Chr3:123738976 [GRCh38]
Chr3:123457823 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3705A>C (p.Ala1235=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001150400] Chr3:123666345 [GRCh38]
Chr3:123385192 [GRCh37]
Chr3:3q21.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.4956C>T (p.Tyr1652=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001491916] Chr3:123638076 [GRCh38]
Chr3:123356923 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.374-6T>C single nucleotide variant not provided [RCV000915225] Chr3:123740007 [GRCh38]
Chr3:123458854 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4289-5C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001480965] Chr3:123649199 [GRCh38]
Chr3:123368046 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4416-8A>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001415198]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798992] Chr3:123647435 [GRCh38]
Chr3:123366282 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.983C>T (p.Ser328Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001244239]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379935] Chr3:123734013 [GRCh38]
Chr3:123452860 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1062G>A (p.Pro354=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002072319]|Familial thoracic aortic aneurysm and aortic dissection [RCV002414281]|not provided [RCV001582142] Chr3:123733934 [GRCh38]
Chr3:123452781 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1942+6T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001170668] Chr3:123709750 [GRCh38]
Chr3:123428597 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1528A>T (p.Met510Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001170669] Chr3:123726067 [GRCh38]
Chr3:123444914 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.536G>A (p.Arg179Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001207705] Chr3:123738949 [GRCh38]
Chr3:123457796 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1040G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001145976] Chr3:123613065 [GRCh38]
Chr3:123331912 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-229C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001146578]|Aortic aneurysm, familial thoracic 7 [RCV002482283] Chr3:123884249 [GRCh38]
Chr3:123603096 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5741A>G (p.Glu1914Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001243462] Chr3:123614109 [GRCh38]
Chr3:123332956 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4715G>C (p.Gly1572Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001205612] Chr3:123640409 [GRCh38]
Chr3:123359256 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2188G>C (p.Val730Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001205625] Chr3:123707956 [GRCh38]
Chr3:123426803 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.985C>G (p.Pro329Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001208715] Chr3:123734011 [GRCh38]
Chr3:123452858 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3395C>T (p.Thr1132Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001243620]|Aortic aneurysm, familial thoracic 7 [RCV002504347] Chr3:123700073 [GRCh38]
Chr3:123418920 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2670G>A (p.Gln890=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001427981]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170123] Chr3:123700798 [GRCh38]
Chr3:123419645 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2079C>T (p.Tyr693=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001170129] Chr3:123708759 [GRCh38]
Chr3:123427606 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.15G>T (p.Lys5Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001237981]|not provided [RCV001751470] Chr3:123793827 [GRCh38]
Chr3:123512674 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2500G>A (p.Gly834Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001243836]|Aortic aneurysm, familial thoracic 7 [RCV002484349] Chr3:123700968 [GRCh38]
Chr3:123419815 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1103G>A (p.Gly368Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001241656]|not provided [RCV001751476] Chr3:123733893 [GRCh38]
Chr3:123452740 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3608C>T (p.Ser1203Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001144309]|Aortic aneurysm, familial thoracic 7 [RCV002480533] Chr3:123682268 [GRCh38]
Chr3:123401115 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1997C>T (p.Ser666Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001210316]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418711] Chr3:123708841 [GRCh38]
Chr3:123427688 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1032C>T (p.Ser344=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001467164] Chr3:123733964 [GRCh38]
Chr3:123452811 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001144310]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169374] Chr3:123700096 [GRCh38]
Chr3:123418943 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1652-4A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000913848] Chr3:123722284 [GRCh38]
Chr3:123441131 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4269G>A (p.Thr1423=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV000936046]|Familial thoracic aortic aneurysm and aortic dissection [RCV002332917] Chr3:123657145 [GRCh38]
Chr3:123375992 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4263C>T (p.Leu1421=) single nucleotide variant not provided [RCV001577238] Chr3:123657151 [GRCh38]
Chr3:123375998 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4709C>T (p.Ser1570Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003161098]|not provided [RCV001562066] Chr3:123640415 [GRCh38]
Chr3:123359262 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5620G>A (p.Gly1874Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002570712]|Familial thoracic aortic aneurysm and aortic dissection [RCV003346614]|not provided [RCV001556970]|not specified [RCV001806239] Chr3:123614230 [GRCh38]
Chr3:123333077 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.146C>T (p.Thr49Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003298934]|not provided [RCV001574893] Chr3:123793696 [GRCh38]
Chr3:123512543 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.673C>A (p.Gln225Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002032630]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370201]|not provided [RCV001558751] Chr3:123737459 [GRCh38]
Chr3:123456306 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2086G>A (p.Glu696Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001563599]|Familial thoracic aortic aneurysm and aortic dissection [RCV002421200] Chr3:123708752 [GRCh38]
Chr3:123427599 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.163C>T (p.Arg55Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002568346]|not provided [RCV001553396] Chr3:123793679 [GRCh38]
Chr3:123512526 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4289-4_4289-3insA insertion not provided [RCV001576450] Chr3:123649197..123649198 [GRCh38]
Chr3:123368044..123368045 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.728C>T (p.Ser243Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001065428]|Aortic aneurysm, familial thoracic 7 [RCV002505643]|Familial thoracic aortic aneurysm and aortic dissection [RCV003283950] Chr3:123737404 [GRCh38]
Chr3:123456251 [GRCh37]
Chr3:3q21.1
uncertain significance
GRCh37/hg19 3q21.1(chr3:122981355-123768908)x1 copy number loss not provided [RCV001005466] Chr3:122981355..123768908 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4625C>T (p.Ser1542Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002539750]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329715]|not provided [RCV001723411] Chr3:123640499 [GRCh38]
Chr3:123359346 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1259C>G (p.Pro420Arg) single nucleotide variant not provided [RCV000999538] Chr3:123733737 [GRCh38]
Chr3:123452584 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4105G>A (p.Glu1369Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002497601]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170115] Chr3:123657309 [GRCh38]
Chr3:123376156 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2338G>C (p.Val780Leu) single nucleotide variant not specified [RCV001194234] Chr3:123707806 [GRCh38]
Chr3:123426653 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1392T>C (p.Tyr464=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001487900]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170670] Chr3:123733020 [GRCh38]
Chr3:123451867 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1315G>A (p.Gly439Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002558786]|not specified [RCV001175605] Chr3:123733097 [GRCh38]
Chr3:123451944 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1360G>A (p.Val454Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002480584]|Aortic aneurysm, familial thoracic 7 [RCV002559636]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170671] Chr3:123733052 [GRCh38]
Chr3:123451899 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.523G>A (p.Gly175Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001170676] Chr3:123738962 [GRCh38]
Chr3:123457809 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4896G>C (p.Val1632=) single nucleotide variant not provided [RCV001172153] Chr3:123638136 [GRCh38]
Chr3:123356983 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5675C>T (p.Thr1892Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001068958]|Aortic aneurysm, familial thoracic 7 [RCV002480434] Chr3:123614175 [GRCh38]
Chr3:123333022 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.249C>T (p.Cys83=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002071907]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424969]|not provided [RCV001532492] Chr3:123752455 [GRCh38]
Chr3:123471302 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1651+23C>G single nucleotide variant not specified [RCV001703000] Chr3:123725921 [GRCh38]
Chr3:123444768 [GRCh37]
Chr3:3q21.1
benign
NC_000003.12:g.(?_123682214)_(123682320_?)del deletion Aortic aneurysm, familial thoracic 7 [RCV001033055] Chr3:123401061..123401167 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2093G>T (p.Trp698Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001069216] Chr3:123708745 [GRCh38]
Chr3:123427592 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.998C>T (p.Pro333Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001049729]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379541]|not provided [RCV003232192] Chr3:123733998 [GRCh38]
Chr3:123452845 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.1853G>A (p.Ser618Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001069455] Chr3:123709845 [GRCh38]
Chr3:123428692 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3316G>C (p.Asp1106His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001050023] Chr3:123700152 [GRCh38]
Chr3:123418999 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1309+26G>A single nucleotide variant not specified [RCV001703381] Chr3:123733661 [GRCh38]
Chr3:123452508 [GRCh37]
Chr3:3q21.1
benign
NM_053025.4(MYLK):c.4352C>T (p.Thr1451Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001070214]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327364] Chr3:123649034 [GRCh38]
Chr3:123367881 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3566A>G (p.Asp1189Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001046544]|not provided [RCV001776102] Chr3:123682310 [GRCh38]
Chr3:123401157 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-75A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001144640] Chr3:123831619 [GRCh38]
Chr3:123550466 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2368G>A (p.Gly790Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001207436]|Aortic aneurysm, familial thoracic 7 [RCV002504242]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451444] Chr3:123707776 [GRCh38]
Chr3:123426623 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5044G>A (p.Asp1682Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001042107]|Aortic aneurysm, familial thoracic 7 [RCV002479268]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307824] Chr3:123629544 [GRCh38]
Chr3:123348391 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3636C>T (p.Pro1212=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001002620]|Aortic aneurysm, familial thoracic 7 [RCV002481803]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160160] Chr3:123682240 [GRCh38]
Chr3:123401087 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1658C>T (p.Pro553Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001220000] Chr3:123722274 [GRCh38]
Chr3:123441121 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1048G>A (p.Ala350Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001052945]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170672]|not provided [RCV001772264] Chr3:123733948 [GRCh38]
Chr3:123452795 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.*1647G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001150220] Chr3:123612458 [GRCh38]
Chr3:123331305 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2987G>A (p.Gly996Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001038853] Chr3:123700481 [GRCh38]
Chr3:123419328 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3972C>T (p.Asn1324=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001170117] Chr3:123664118 [GRCh38]
Chr3:123382965 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1027A>G (p.Ser343Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001150630] Chr3:123733969 [GRCh38]
Chr3:123452816 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5449G>A (p.Asp1817Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001206619]|Aortic aneurysm, familial thoracic 7 [RCV002480676]|not provided [RCV001776142] Chr3:123618690 [GRCh38]
Chr3:123337537 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5407G>A (p.Glu1803Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001039118] Chr3:123618732 [GRCh38]
Chr3:123337579 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4620-2A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001963882] Chr3:123640506 [GRCh38]
Chr3:123359353 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.1327C>A (p.Pro443Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001220504]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799052]|not provided [RCV003481002] Chr3:123733085 [GRCh38]
Chr3:123451932 [GRCh37]
Chr3:3q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3832-2A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001236095] Chr3:123664260 [GRCh38]
Chr3:123383107 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.1657C>T (p.Pro553Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001214551] Chr3:123722275 [GRCh38]
Chr3:123441122 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3902G>A (p.Arg1301His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001213110]|Familial thoracic aortic aneurysm and aortic dissection [RCV002356910] Chr3:123664188 [GRCh38]
Chr3:123383035 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.1253G>A (p.Ser418Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001219375] Chr3:123733743 [GRCh38]
Chr3:123452590 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2386C>G (p.Leu796Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001055204]|Aortic aneurysm, familial thoracic 7 [RCV002479336] Chr3:123707758 [GRCh38]
Chr3:123426605 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1519T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001144076] Chr3:123612586 [GRCh38]
Chr3:123331433 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*1134C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001144078] Chr3:123612971 [GRCh38]
Chr3:123331818 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.*1090A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001144079] Chr3:123613015 [GRCh38]
Chr3:123331862 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.*1070T>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001144080] Chr3:123613035 [GRCh38]
Chr3:123331882 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3748C>T (p.Arg1250Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001234070]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348786] Chr3:123666302 [GRCh38]
Chr3:123385149 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3022G>A (p.Val1008Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001048924]|Familial thoracic aortic aneurysm and aortic dissection [RCV003283900] Chr3:123700446 [GRCh38]
Chr3:123419293 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2049G>A (p.Gln683=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001144427] Chr3:123708789 [GRCh38]
Chr3:123427636 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.*981A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001145977] Chr3:123613124 [GRCh38]
Chr3:123331971 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.648G>T (p.Gln216His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003117799]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170675] Chr3:123737484 [GRCh38]
Chr3:123456331 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.47C>T (p.Ser16Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001230272]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327549] Chr3:123793795 [GRCh38]
Chr3:123512642 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2940T>G (p.Asp980Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001040715]|Aortic aneurysm, familial thoracic 7 [RCV002481881]|Inborn genetic diseases [RCV002553070] Chr3:123700528 [GRCh38]
Chr3:123419375 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1205G>A (p.Arg402Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001052726] Chr3:123733791 [GRCh38]
Chr3:123452638 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-260C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001146580] Chr3:123884280 [GRCh38]
Chr3:123603127 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-281G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001146582] Chr3:123884301 [GRCh38]
Chr3:123603148 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.256C>G (p.Arg86Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001150742] Chr3:123752448 [GRCh38]
Chr3:123471295 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.712G>A (p.Gly238Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001055812]|Aortic aneurysm, familial thoracic 7 [RCV002482004] Chr3:123737420 [GRCh38]
Chr3:123456267 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2626C>T (p.Arg876Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001055898]|Aortic aneurysm, familial thoracic 7 [RCV002489644]|not provided [RCV001593226] Chr3:123700842 [GRCh38]
Chr3:123419689 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.774-18A>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001000193] Chr3:123734240 [GRCh38]
Chr3:123453087 [GRCh37]
Chr3:3q21.1
benign
NM_053025.4(MYLK):c.4837+3A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001233567] Chr3:123640284 [GRCh38]
Chr3:123359131 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1802A>G (p.His601Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001069456] Chr3:123722130 [GRCh38]
Chr3:123440977 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2740G>C (p.Asp914His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001037798]|Familial thoracic aortic aneurysm and aortic dissection [RCV003346264] Chr3:123700728 [GRCh38]
Chr3:123419575 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2629G>T (p.Val877Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001052194] Chr3:123700839 [GRCh38]
Chr3:123419686 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.151A>G (p.Lys51Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001056926] Chr3:123793691 [GRCh38]
Chr3:123512538 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.400C>G (p.Pro134Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001062998] Chr3:123739975 [GRCh38]
Chr3:123458822 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2974C>T (p.Pro992Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001204048] Chr3:123700494 [GRCh38]
Chr3:123419341 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4153C>T (p.Arg1385Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001063195]|Aortic aneurysm, familial thoracic 7 [RCV002482073] Chr3:123657261 [GRCh38]
Chr3:123376108 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.178C>G (p.Pro60Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001063205] Chr3:123752526 [GRCh38]
Chr3:123471373 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*404G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001148760] Chr3:123613701 [GRCh38]
Chr3:123332548 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4362C>T (p.Ile1454=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003161115]|not provided [RCV001572298] Chr3:123649024 [GRCh38]
Chr3:123367871 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002069323]|not provided [RCV001751517]|not specified [RCV001251270] Chr3:123640424 [GRCh38]
Chr3:123359271 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.*54A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001253968] Chr3:123614051 [GRCh38]
Chr3:123332898 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.*73A>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001253967] Chr3:123614032 [GRCh38]
Chr3:123332879 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2390+1G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001258091] Chr3:123707753 [GRCh38]
Chr3:123426600 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.5557C>T (p.Arg1853Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001295208]|Familial thoracic aortic aneurysm and aortic dissection [RCV003166641] Chr3:123614293 [GRCh38]
Chr3:123333140 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1270G>A (p.Glu424Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001303813] Chr3:123733726 [GRCh38]
Chr3:123452573 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2462+20G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002069383]|not specified [RCV001264514] Chr3:123701418 [GRCh38]
Chr3:123420265 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.914C>T (p.Ser305Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001258154]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294168]|not provided [RCV002285466] Chr3:123734082 [GRCh38]
Chr3:123452929 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4322-11G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002069375]|Aortic aneurysm, familial thoracic 7 [RCV002499449]|not provided [RCV001587300]|not specified [RCV001260410] Chr3:123649075 [GRCh38]
Chr3:123367922 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
GRCh37/hg19 3q21.1-21.2(chr3:123442360-123837654)x3 copy number gain not provided [RCV001259229] Chr3:123442360..123837654 [GRCh37]
Chr3:3q21.1-21.2
uncertain significance
NM_053025.4(MYLK):c.4834C>A (p.Leu1612Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001258153] Chr3:123640290 [GRCh38]
Chr3:123359137 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5720GGGAAG[1] (p.1905GE[2]) microsatellite not provided [RCV001546005] Chr3:123614119..123614124 [GRCh38]
Chr3:123332966..123332971 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3085G>A (p.Ala1029Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001871695]|not provided [RCV001555351] Chr3:123700383 [GRCh38]
Chr3:123419230 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4983C>T (p.Phe1661=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002072299]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334623]|not provided [RCV001581351] Chr3:123629605 [GRCh38]
Chr3:123348452 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5369-8T>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001301382] Chr3:123618778 [GRCh38]
Chr3:123337625 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4942G>A (p.Gly1648Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001339000] Chr3:123638090 [GRCh38]
Chr3:123356937 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2849A>C (p.Gln950Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001315395]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438708] Chr3:123700619 [GRCh38]
Chr3:123419466 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.358G>A (p.Glu120Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001315609] Chr3:123752346 [GRCh38]
Chr3:123471193 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5659A>G (p.Ser1887Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002543578]|not provided [RCV001311608] Chr3:123614191 [GRCh38]
Chr3:123333038 [GRCh37]
Chr3:3q21.1
uncertain significance
NC_000003.11:g.(?_123332942)_(123512698_?)dup duplication Aortic aneurysm, familial thoracic 7 [RCV001363030] Chr3:123332942..123512698 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2634G>A (p.Glu878=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001414323]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456662] Chr3:123700834 [GRCh38]
Chr3:123419681 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3343dup (p.Leu1115fs) duplication Isolated thoracic aortic aneurysm [RCV001374783] Chr3:123700124..123700125 [GRCh38]
Chr3:123418971..123418972 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.3209A>G (p.Asp1070Gly) single nucleotide variant not specified [RCV001420797] Chr3:123700259 [GRCh38]
Chr3:123419106 [GRCh37]
Chr3:3q21.1
benign
NM_053025.4(MYLK):c.1143C>A (p.Thr381=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799368] Chr3:123733853 [GRCh38]
Chr3:123452700 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1206A>T (p.Arg402Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799369] Chr3:123733790 [GRCh38]
Chr3:123452637 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.165G>A (p.Arg55=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799371] Chr3:123793677 [GRCh38]
Chr3:123512524 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2501G>A (p.Gly834Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001307865] Chr3:123700967 [GRCh38]
Chr3:123419814 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.992C>A (p.Thr331Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001312522]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384388] Chr3:123734004 [GRCh38]
Chr3:123452851 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.1432C>T (p.Arg478Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001360286]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799072] Chr3:123732980 [GRCh38]
Chr3:123451827 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4833G>T (p.Arg1611Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001359176] Chr3:123640291 [GRCh38]
Chr3:123359138 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.97C>T (p.Pro33Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001303158]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384366] Chr3:123793745 [GRCh38]
Chr3:123512592 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2225G>A (p.Cys742Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001372927] Chr3:123707919 [GRCh38]
Chr3:123426766 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4390T>C (p.Tyr1464His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001373752] Chr3:123648996 [GRCh38]
Chr3:123367843 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5339C>T (p.Pro1780Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001361163] Chr3:123620236 [GRCh38]
Chr3:123339083 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4475G>A (p.Gly1492Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001341883] Chr3:123647368 [GRCh38]
Chr3:123366215 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1683C>T (p.Cys561=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001316456] Chr3:123722249 [GRCh38]
Chr3:123441096 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2518GGT[2] (p.Gly842del) microsatellite Aortic aneurysm, familial thoracic 7 [RCV001305460] Chr3:123700942..123700944 [GRCh38]
Chr3:123419789..123419791 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1966T>C (p.Trp656Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001314588] Chr3:123708872 [GRCh38]
Chr3:123427719 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4540A>G (p.Asn1514Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001306592]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341612]|not provided [RCV002245956]|not specified [RCV003155391] Chr3:123647303 [GRCh38]
Chr3:123366150 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4270G>A (p.Val1424Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001297100] Chr3:123657144 [GRCh38]
Chr3:123375991 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1173C>G (p.Ser391Arg) single nucleotide variant not provided [RCV001557071] Chr3:123733823 [GRCh38]
Chr3:123452670 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4967G>A (p.Ser1656Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001365144] Chr3:123629621 [GRCh38]
Chr3:123348468 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.382G>T (p.Ala128Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001343895] Chr3:123739993 [GRCh38]
Chr3:123458840 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1151C>T (p.Thr384Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001338004] Chr3:123733845 [GRCh38]
Chr3:123452692 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.319G>A (p.Glu107Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001323174]|Aortic aneurysm, familial thoracic 7 [RCV002476519]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322244]|not provided [RCV001751625] Chr3:123752385 [GRCh38]
Chr3:123471232 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1370A>G (p.Gln457Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001324252] Chr3:123733042 [GRCh38]
Chr3:123451889 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2657C>T (p.Ala886Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001304204] Chr3:123700811 [GRCh38]
Chr3:123419658 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2996G>T (p.Ser999Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001316825]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438713] Chr3:123700472 [GRCh38]
Chr3:123419319 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4519C>T (p.Arg1507Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001324842] Chr3:123647324 [GRCh38]
Chr3:123366171 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2586G>C (p.Glu862Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001300642] Chr3:123700882 [GRCh38]
Chr3:123419729 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1399G>A (p.Ala467Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001322281] Chr3:123733013 [GRCh38]
Chr3:123451860 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2608C>G (p.Arg870Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001369830]|Inborn genetic diseases [RCV002548628] Chr3:123700860 [GRCh38]
Chr3:123419707 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.711C>G (p.Asn237Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001323371] Chr3:123737421 [GRCh38]
Chr3:123456268 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4165T>G (p.Phe1389Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001324830] Chr3:123657249 [GRCh38]
Chr3:123376096 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5012C>T (p.Ala1671Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001341378] Chr3:123629576 [GRCh38]
Chr3:123348423 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1348_1353del (p.Glu450_Gly451del) deletion Aortic aneurysm, familial thoracic 7 [RCV001347677] Chr3:123733059..123733064 [GRCh38]
Chr3:123451906..123451911 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.348G>A (p.Gln116=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002070113]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451646]|not specified [RCV001290624] Chr3:123752356 [GRCh38]
Chr3:123471203 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.100G>A (p.Ala34Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001322511] Chr3:123793742 [GRCh38]
Chr3:123512589 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2662C>T (p.Arg888Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001373037]|Aortic aneurysm, familial thoracic 7 [RCV002476706]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438874]|not provided [RCV002473284] Chr3:123700806 [GRCh38]
Chr3:123419653 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4716A>T (p.Gly1572=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001364302]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341771] Chr3:123640408 [GRCh38]
Chr3:123359255 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.5650G>A (p.Ala1884Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001343358] Chr3:123614200 [GRCh38]
Chr3:123333047 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.157G>A (p.Glu53Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001363882]|Aortic aneurysm, familial thoracic 7 [RCV002488117] Chr3:123793685 [GRCh38]
Chr3:123512532 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1711C>T (p.Gln571Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001363920] Chr3:123722221 [GRCh38]
Chr3:123441068 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2125G>T (p.Val709Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001325222] Chr3:123708713 [GRCh38]
Chr3:123427560 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4439G>A (p.Arg1480Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001314019]|Aortic aneurysm, familial thoracic 7 [RCV002504481]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329264] Chr3:123647404 [GRCh38]
Chr3:123366251 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.754+6G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001314035] Chr3:123737372 [GRCh38]
Chr3:123456219 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.608C>T (p.Pro203Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001350991]|not provided [RCV001762605] Chr3:123737524 [GRCh38]
Chr3:123456371 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4093T>A (p.Ser1365Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002542981]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382497]|not provided [RCV001813061] Chr3:123657321 [GRCh38]
Chr3:123376168 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2769G>A (p.Met923Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001299744] Chr3:123700699 [GRCh38]
Chr3:123419546 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3248G>A (p.Gly1083Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001331581]|Aortic aneurysm, familial thoracic 7 [RCV002476547]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169550]|not provided [RCV001751645] Chr3:123700220 [GRCh38]
Chr3:123419067 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5076C>T (p.Ala1692=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001412767]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799081] Chr3:123629512 [GRCh38]
Chr3:123348359 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5736AGA[1] (p.Glu1914del) microsatellite Aortic aneurysm, familial thoracic 7 [RCV001306715]|not provided [RCV002221624] Chr3:123614109..123614111 [GRCh38]
Chr3:123332956..123332958 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.469G>A (p.Gly157Arg) single nucleotide variant not provided [RCV001311610] Chr3:123739016 [GRCh38]
Chr3:123457863 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.7G>T (p.Asp3Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001337529]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150423]|not provided [RCV001587355] Chr3:123793835 [GRCh38]
Chr3:123512682 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3287C>T (p.Thr1096Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001366009] Chr3:123700181 [GRCh38]
Chr3:123419028 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4455A>G (p.Lys1485=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001454086] Chr3:123647388 [GRCh38]
Chr3:123366235 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1524C>T (p.Ala508=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001480242]|Familial thoracic aortic aneurysm and aortic dissection [RCV002396141] Chr3:123726071 [GRCh38]
Chr3:123444918 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4332G>A (p.Glu1444=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001442512]|not specified [RCV003155410] Chr3:123649054 [GRCh38]
Chr3:123367901 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.166-4G>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001472105] Chr3:123752542 [GRCh38]
Chr3:123471389 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2574G>A (p.Gln858=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001489805] Chr3:123700894 [GRCh38]
Chr3:123419741 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5239-9A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001493564] Chr3:123620345 [GRCh38]
Chr3:123339192 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1617G>A (p.Gly539=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001493581]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298876] Chr3:123725978 [GRCh38]
Chr3:123444825 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2577T>G (p.Gly859=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001485039] Chr3:123700891 [GRCh38]
Chr3:123419738 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4359A>C (p.Thr1453=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001446324] Chr3:123649027 [GRCh38]
Chr3:123367874 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5577C>T (p.Tyr1859=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001412082]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350794] Chr3:123614273 [GRCh38]
Chr3:123333120 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.493del (p.Thr165fs) deletion not provided [RCV001529936] Chr3:123738992 [GRCh38]
Chr3:123457839 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3471C>T (p.Ile1157=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001437279] Chr3:123692829 [GRCh38]
Chr3:123411676 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5613T>C (p.Asp1871=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001394342] Chr3:123614237 [GRCh38]
Chr3:123333084 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.755-6T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001394378] Chr3:123735422 [GRCh38]
Chr3:123454269 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4962-1G>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001379261] Chr3:123629627 [GRCh38]
Chr3:123348474 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.696G>A (p.Thr232=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001439820] Chr3:123737436 [GRCh38]
Chr3:123456283 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5133G>A (p.Thr1711=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001402717]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350771] Chr3:123626923 [GRCh38]
Chr3:123345770 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4114del (p.Asp1372fs) deletion Aortic aneurysm, familial thoracic 7 [RCV001380831] Chr3:123657300 [GRCh38]
Chr3:123376147 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.1008G>A (p.Pro336=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001446905]|Familial thoracic aortic aneurysm and aortic dissection [RCV002432241]|not provided [RCV003426102] Chr3:123733988 [GRCh38]
Chr3:123452835 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1953C>T (p.Pro651=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001410511]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382575] Chr3:123708885 [GRCh38]
Chr3:123427732 [GRCh37]
Chr3:3q21.1
likely benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541926] Chr3:123000000..129700000 [GRCh37]
Chr3:3q21.1-22.1
pathogenic
NM_053025.4(MYLK):c.3084C>T (p.Asn1028=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001407757]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322408]|not provided [RCV001567170] Chr3:123700384 [GRCh38]
Chr3:123419231 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.45C>T (p.Thr15=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001436302] Chr3:123793797 [GRCh38]
Chr3:123512644 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1287A>G (p.Gln429=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001423364]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384628] Chr3:123733709 [GRCh38]
Chr3:123452556 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5340G>A (p.Pro1780=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001398341] Chr3:123620235 [GRCh38]
Chr3:123339082 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4224C>T (p.Asn1408=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001408572]|Aortic aneurysm, familial thoracic 7 [RCV002499876]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329441]|not provided [RCV001551957]|not specified [RCV003331152] Chr3:123657190 [GRCh38]
Chr3:123376037 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3378A>C (p.Pro1126=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001447635] Chr3:123700090 [GRCh38]
Chr3:123418937 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.726C>T (p.Ala242=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001438159] Chr3:123737406 [GRCh38]
Chr3:123456253 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4962-5T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001424279] Chr3:123629631 [GRCh38]
Chr3:123348478 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4953C>T (p.Cys1651=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001435352] Chr3:123638079 [GRCh38]
Chr3:123356926 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5368+9_5368+11del microsatellite Aortic aneurysm, familial thoracic 7 [RCV001486556]|not specified [RCV003323889] Chr3:123620196..123620198 [GRCh38]
Chr3:123339043..123339045 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.589-10C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001473992] Chr3:123737553 [GRCh38]
Chr3:123456400 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4131G>T (p.Thr1377=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001491450] Chr3:123657283 [GRCh38]
Chr3:123376130 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5454A>G (p.Leu1818=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001479575]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350980] Chr3:123618685 [GRCh38]
Chr3:123337532 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3832-8G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001497048] Chr3:123664266 [GRCh38]
Chr3:123383113 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4214G>A (p.Arg1405His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001882704]|Aortic aneurysm, familial thoracic 7 [RCV002501943]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329689]|not provided [RCV001584984] Chr3:123657200 [GRCh38]
Chr3:123376047 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3566-8C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001453367] Chr3:123682318 [GRCh38]
Chr3:123401165 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5157A>T (p.Leu1719=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001463714] Chr3:123626899 [GRCh38]
Chr3:123345746 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3255A>G (p.Thr1085=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001460961] Chr3:123700213 [GRCh38]
Chr3:123419060 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.976A>G (p.Lys326Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001882735]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386483]|not provided [RCV001592192] Chr3:123734020 [GRCh38]
Chr3:123452867 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2196C>T (p.Ala732=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001501619] Chr3:123707948 [GRCh38]
Chr3:123426795 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3285G>C (p.Gly1095=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001405515] Chr3:123700183 [GRCh38]
Chr3:123419030 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.589-8A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001451076] Chr3:123737551 [GRCh38]
Chr3:123456398 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2787G>C (p.Leu929=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001456970] Chr3:123700681 [GRCh38]
Chr3:123419528 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1047C>T (p.Ala349=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001451084]|Familial thoracic aortic aneurysm and aortic dissection [RCV002405063] Chr3:123733949 [GRCh38]
Chr3:123452796 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5016C>T (p.Asn1672=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001506625]|not provided [RCV001762704] Chr3:123629572 [GRCh38]
Chr3:123348419 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3448+3086G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001519673] Chr3:123696934 [GRCh38]
Chr3:123415781 [GRCh37]
Chr3:3q21.1
benign
NM_053025.4(MYLK):c.1805-10T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001499157] Chr3:123709903 [GRCh38]
Chr3:123428750 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1805-7C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001483384] Chr3:123709900 [GRCh38]
Chr3:123428747 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4812C>T (p.Ile1604=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001485311] Chr3:123640312 [GRCh38]
Chr3:123359159 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2082C>T (p.Thr694=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001476824] Chr3:123708756 [GRCh38]
Chr3:123427603 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5369-4C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001480748] Chr3:123618774 [GRCh38]
Chr3:123337621 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1652-5C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001393649] Chr3:123722285 [GRCh38]
Chr3:123441132 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.777A>G (p.Ser259=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001497155] Chr3:123734219 [GRCh38]
Chr3:123453066 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4011A>T (p.Thr1337=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001435268] Chr3:123657403 [GRCh38]
Chr3:123376250 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3831+9C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001400675] Chr3:123666210 [GRCh38]
Chr3:123385057 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.345C>A (p.Arg115=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001471877] Chr3:123752359 [GRCh38]
Chr3:123471206 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1827T>C (p.Ser609=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001472437] Chr3:123709871 [GRCh38]
Chr3:123428718 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.869C>T (p.Ala290Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003107153] Chr3:123734127 [GRCh38]
Chr3:123452974 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1054G>A (p.Val352Ile) single nucleotide variant not provided [RCV001755317] Chr3:123733942 [GRCh38]
Chr3:123452789 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4396A>G (p.Ile1466Val) single nucleotide variant not provided [RCV001755453] Chr3:123648990 [GRCh38]
Chr3:123367837 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3989A>C (p.Lys1330Thr) single nucleotide variant not provided [RCV001755429] Chr3:123657425 [GRCh38]
Chr3:123376272 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2996G>A (p.Ser999Asn) single nucleotide variant not provided [RCV001755474] Chr3:123700472 [GRCh38]
Chr3:123419319 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3410C>T (p.Thr1137Ile) single nucleotide variant not provided [RCV001755473] Chr3:123700058 [GRCh38]
Chr3:123418905 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5609G>T (p.Ser1870Ile) single nucleotide variant not provided [RCV001755478] Chr3:123614241 [GRCh38]
Chr3:123333088 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3403G>A (p.Gly1135Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002458595]|not provided [RCV001755398] Chr3:123700065 [GRCh38]
Chr3:123418912 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4355T>G (p.Val1452Gly) single nucleotide variant not provided [RCV001755521] Chr3:123649031 [GRCh38]
Chr3:123367878 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1771C>T (p.Gln591Ter) single nucleotide variant not provided [RCV001784692] Chr3:123722161 [GRCh38]
Chr3:123441008 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.2957G>T (p.Gly986Val) single nucleotide variant not provided [RCV001758943] Chr3:123700511 [GRCh38]
Chr3:123419358 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2435A>C (p.Gln812Pro) single nucleotide variant not provided [RCV001758976] Chr3:123701465 [GRCh38]
Chr3:123420312 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3887C>T (p.Thr1296Ile) single nucleotide variant not provided [RCV001759008] Chr3:123664203 [GRCh38]
Chr3:123383050 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1517-2A>G single nucleotide variant not provided [RCV001755377] Chr3:123726080 [GRCh38]
Chr3:123444927 [GRCh37]
Chr3:3q21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_053025.4(MYLK):c.3393dup (p.Thr1132fs) duplication not provided [RCV001776337] Chr3:123700074..123700075 [GRCh38]
Chr3:123418921..123418922 [GRCh37]
Chr3:3q21.1
pathogenic|uncertain significance
NM_053025.4(MYLK):c.4303G>A (p.Val1435Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003355545]|not provided [RCV001776348]|not specified [RCV003401707] Chr3:123649180 [GRCh38]
Chr3:123368027 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1433G>C (p.Arg478Pro) single nucleotide variant not provided [RCV001776378] Chr3:123732979 [GRCh38]
Chr3:123451826 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3598G>A (p.Glu1200Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002458600]|not provided [RCV001768413] Chr3:123682278 [GRCh38]
Chr3:123401125 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2075C>T (p.Thr692Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799373] Chr3:123708763 [GRCh38]
Chr3:123427610 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2105G>A (p.Gly702Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799374] Chr3:123708733 [GRCh38]
Chr3:123427580 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.773+10G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002544364]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799375] Chr3:123735388 [GRCh38]
Chr3:123454235 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2066A>G (p.Asp689Gly) single nucleotide variant not provided [RCV001753302] Chr3:123708772 [GRCh38]
Chr3:123427619 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.376A>G (p.Ser126Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002488622]|not provided [RCV001753337] Chr3:123739999 [GRCh38]
Chr3:123458846 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5350G>A (p.Glu1784Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001868731]|not provided [RCV001753351] Chr3:123620225 [GRCh38]
Chr3:123339072 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4936A>G (p.Ser1646Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001885101]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343841]|not provided [RCV001753389] Chr3:123638096 [GRCh38]
Chr3:123356943 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5108A>C (p.Asp1703Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002334682]|not provided [RCV001766275] Chr3:123629480 [GRCh38]
Chr3:123348327 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.248G>T (p.Cys83Phe) single nucleotide variant not provided [RCV001799911] Chr3:123752456 [GRCh38]
Chr3:123471303 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2944C>T (p.Arg982Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003382642]|not provided [RCV001774907] Chr3:123700524 [GRCh38]
Chr3:123419371 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5095C>A (p.Leu1699Met) single nucleotide variant not provided [RCV001774947] Chr3:123629493 [GRCh38]
Chr3:123348340 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1726G>A (p.Glu576Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003299008]|not provided [RCV001799956] Chr3:123722206 [GRCh38]
Chr3:123441053 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4620-1G>T single nucleotide variant not provided [RCV001759150] Chr3:123640505 [GRCh38]
Chr3:123359352 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3632C>T (p.Pro1211Leu) single nucleotide variant not provided [RCV001767916] Chr3:123682244 [GRCh38]
Chr3:123401091 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2254G>A (p.Val752Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002540642]|Familial thoracic aortic aneurysm and aortic dissection [RCV002449420]|not provided [RCV001767920] Chr3:123707890 [GRCh38]
Chr3:123426737 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1369C>G (p.Gln457Glu) single nucleotide variant not provided [RCV001767929] Chr3:123733043 [GRCh38]
Chr3:123451890 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4904A>C (p.Tyr1635Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001868805]|not provided [RCV001776451] Chr3:123638128 [GRCh38]
Chr3:123356975 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3166_3167insCTGAGACCCTGAAGCCAATGGGCAACGCCAAGCCTG (p.1032AETLKPMGNAKP[3]) insertion not provided [RCV001776469] Chr3:123700301..123700302 [GRCh38]
Chr3:123419148..123419149 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4571G>A (p.Cys1524Tyr) single nucleotide variant not provided [RCV001776495] Chr3:123647272 [GRCh38]
Chr3:123366119 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2986G>A (p.Gly996Ser) single nucleotide variant not provided [RCV001769632] Chr3:123700482 [GRCh38]
Chr3:123419329 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4291C>T (p.Pro1431Ser) single nucleotide variant not provided [RCV001768431] Chr3:123649192 [GRCh38]
Chr3:123368039 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3376C>T (p.Pro1126Ser) single nucleotide variant not provided [RCV001757396] Chr3:123700092 [GRCh38]
Chr3:123418939 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1408C>T (p.His470Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001868674]|not provided [RCV001757429] Chr3:123733004 [GRCh38]
Chr3:123451851 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3181T>C (p.Ser1061Pro) single nucleotide variant not provided [RCV001776840] Chr3:123700287 [GRCh38]
Chr3:123419134 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1304G>A (p.Cys435Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002506815]|not provided [RCV001776848] Chr3:123733692 [GRCh38]
Chr3:123452539 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4656C>T (p.Asp1552=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002077270]|not provided [RCV001816366] Chr3:123640468 [GRCh38]
Chr3:123359315 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2608C>T (p.Arg870Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002541517]|not provided [RCV001816367] Chr3:123700860 [GRCh38]
Chr3:123419707 [GRCh37]
Chr3:3q21.1
likely pathogenic|uncertain significance
NM_053025.4(MYLK):c.4544G>A (p.Cys1515Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002482316]|not provided [RCV001794842] Chr3:123647299 [GRCh38]
Chr3:123366146 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.17T>C (p.Leu6Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799372] Chr3:123793825 [GRCh38]
Chr3:123512672 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1594G>C (p.Val532Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002034626]|not provided [RCV001786961] Chr3:123726001 [GRCh38]
Chr3:123444848 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1525G>A (p.Val509Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002541322]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799370] Chr3:123726070 [GRCh38]
Chr3:123444917 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1132C>T (p.Arg378Cys) single nucleotide variant not provided [RCV001757457] Chr3:123733864 [GRCh38]
Chr3:123452711 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5163A>C (p.Lys1721Asn) single nucleotide variant not provided [RCV001776691] Chr3:123626893 [GRCh38]
Chr3:123345740 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.26C>T (p.Ser9Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002458596]|not provided [RCV001757341] Chr3:123793816 [GRCh38]
Chr3:123512663 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.454C>T (p.Arg152Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002034522]|Aortic aneurysm, familial thoracic 7 [RCV002503256]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329747]|MYLK-related condition [RCV003394249]|not provided [RCV001776772] Chr3:123739031 [GRCh38]
Chr3:123457878 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.754+3A>G single nucleotide variant not provided [RCV001757346] Chr3:123737375 [GRCh38]
Chr3:123456222 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2792G>A (p.Arg931Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002477996]|Aortic aneurysm, familial thoracic 7 [RCV002540627]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163896]|not provided [RCV001757434] Chr3:123700676 [GRCh38]
Chr3:123419523 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2140+5G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003120680]|not provided [RCV001753365] Chr3:123708693 [GRCh38]
Chr3:123427540 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2308G>A (p.Val770Met) single nucleotide variant not provided [RCV001776968] Chr3:123707836 [GRCh38]
Chr3:123426683 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4593G>C (p.Lys1531Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002477999]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334684]|not provided [RCV001759095] Chr3:123647250 [GRCh38]
Chr3:123366097 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.92A>G (p.Glu31Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001868710]|not provided [RCV001759211] Chr3:123793750 [GRCh38]
Chr3:123512597 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5092A>C (p.Asn1698His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002506813]|not provided [RCV001776688] Chr3:123629496 [GRCh38]
Chr3:123348343 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3167A>G (p.Asp1056Gly) single nucleotide variant not provided [RCV001811813] Chr3:123700301 [GRCh38]
Chr3:123419148 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2030A>G (p.Gln677Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001944976] Chr3:123708808 [GRCh38]
Chr3:123427655 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.531G>A (p.Met177Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001963806] Chr3:123738954 [GRCh38]
Chr3:123457801 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5169del (p.Lys1724fs) deletion Aortic aneurysm, familial thoracic 7 [RCV001947252] Chr3:123626887 [GRCh38]
Chr3:123345734 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.3919T>C (p.Cys1307Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001971236] Chr3:123664171 [GRCh38]
Chr3:123383018 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3329C>T (p.Ala1110Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001950635] Chr3:123700139 [GRCh38]
Chr3:123418986 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3782T>G (p.Val1261Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002025836] Chr3:123666268 [GRCh38]
Chr3:123385115 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3146_3147insAATGGGCAACGCCAAGCCTGCTGAGACCCTGAAGCCAATGGGCAACGCCAAGCCTGCCGAGACCCTGAAGCC (p.1032AETLKPMGNAKP[4]) insertion Aortic aneurysm, familial thoracic 7 [RCV001928927] Chr3:123700321..123700322 [GRCh38]
Chr3:123419168..123419169 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.754+5C>T single nucleotide variant not specified [RCV001823814] Chr3:123737373 [GRCh38]
Chr3:123456220 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.513_514delinsTT (p.Val172Phe) indel Aortic aneurysm, familial thoracic 7 [RCV001874125] Chr3:123738971..123738972 [GRCh38]
Chr3:123457818..123457819 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5545A>G (p.Ile1849Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001971075]|Familial thoracic aortic aneurysm and aortic dissection [RCV002344147] Chr3:123614305 [GRCh38]
Chr3:123333152 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.983del (p.Ser328fs) deletion Aortic aneurysm, familial thoracic 7 [RCV001896908] Chr3:123734013 [GRCh38]
Chr3:123452860 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2612G>C (p.Gly871Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001914396] Chr3:123700856 [GRCh38]
Chr3:123419703 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2381T>A (p.Ile794Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001969260] Chr3:123707763 [GRCh38]
Chr3:123426610 [GRCh37]
Chr3:3q21.1
uncertain significance
GRCh37/hg19 3q21.1-21.2(chr3:123426881-124387174)x1 copy number loss not provided [RCV001827926] Chr3:123426881..124387174 [GRCh37]
Chr3:3q21.1-21.2
pathogenic
NM_053025.4(MYLK):c.5488T>A (p.Cys1830Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002008797] Chr3:123618651 [GRCh38]
Chr3:123337498 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3421A>G (p.Thr1141Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001890366] Chr3:123700047 [GRCh38]
Chr3:123418894 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.301del (p.Arg101fs) deletion Aortic aneurysm, familial thoracic 7 [RCV001928678]|Aortic aneurysm, familial thoracic 7 [RCV002479393]|Familial thoracic aortic aneurysm and aortic dissection [RCV002441031] Chr3:123752403 [GRCh38]
Chr3:123471250 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2885C>T (p.Thr962Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001988423] Chr3:123700583 [GRCh38]
Chr3:123419430 [GRCh37]
Chr3:3q21.1
uncertain significance
NC_000003.11:g.(?_123401061)_(123404712_?)dup duplication Aortic aneurysm, familial thoracic 7 [RCV001982826] Chr3:123401061..123404712 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4955A>G (p.Tyr1652Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002041799] Chr3:123638077 [GRCh38]
Chr3:123356924 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2974C>G (p.Pro992Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002006690] Chr3:123700494 [GRCh38]
Chr3:123419341 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3855G>T (p.Lys1285Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001912925] Chr3:123664235 [GRCh38]
Chr3:123383082 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3751_3752del (p.Ala1251fs) microsatellite Aortic aneurysm, familial thoracic 7 [RCV001945438] Chr3:123666298..123666299 [GRCh38]
Chr3:123385145..123385146 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.454C>A (p.Arg152Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001910150]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334865] Chr3:123739031 [GRCh38]
Chr3:123457878 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.452C>A (p.Thr151Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001948074] Chr3:123739033 [GRCh38]
Chr3:123457880 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.222_227del (p.Ser75_Gly76del) deletion Aortic aneurysm, familial thoracic 7 [RCV001910323] Chr3:123752477..123752482 [GRCh38]
Chr3:123471324..123471329 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1963A>T (p.Ile655Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001889557] Chr3:123708875 [GRCh38]
Chr3:123427722 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1553G>T (p.Ser518Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002020990] Chr3:123726042 [GRCh38]
Chr3:123444889 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2483G>T (p.Cys828Phe) single nucleotide variant not specified [RCV001823833] Chr3:123700985 [GRCh38]
Chr3:123419832 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3565+13del deletion Aortic aneurysm, familial thoracic 7 [RCV001965529] Chr3:123692722 [GRCh38]
Chr3:123411569 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5642C>G (p.Thr1881Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001909295] Chr3:123614208 [GRCh38]
Chr3:123333055 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2885C>A (p.Thr962Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002440899]|not provided [RCV001837671] Chr3:123700583 [GRCh38]
Chr3:123419430 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3527C>T (p.Ala1176Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002044520] Chr3:123692773 [GRCh38]
Chr3:123411620 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2390+6T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002040257] Chr3:123707748 [GRCh38]
Chr3:123426595 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3211G>A (p.Val1071Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001949153]|Aortic aneurysm, familial thoracic 7 [RCV002479522]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442914] Chr3:123700257 [GRCh38]
Chr3:123419104 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4915_4916delinsAC (p.Gly1639Thr) indel Aortic aneurysm, familial thoracic 7 [RCV002024473] Chr3:123638116..123638117 [GRCh38]
Chr3:123356963..123356964 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.261G>T (p.Gly87=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001985524] Chr3:123752443 [GRCh38]
Chr3:123471290 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.908G>T (p.Gly303Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001871319]|Inborn genetic diseases [RCV003289174] Chr3:123734088 [GRCh38]
Chr3:123452935 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4422del (p.Lys1474fs) deletion Aortic aneurysm, familial thoracic 7 [RCV001911117] Chr3:123647421 [GRCh38]
Chr3:123366268 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.3449-8C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001946875] Chr3:123692859 [GRCh38]
Chr3:123411706 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2462+3G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002044430]|Familial thoracic aortic aneurysm and aortic dissection [RCV002449455] Chr3:123701435 [GRCh38]
Chr3:123420282 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.404T>A (p.Val135Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002006951] Chr3:123739971 [GRCh38]
Chr3:123458818 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5047G>A (p.Glu1683Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001947283] Chr3:123629541 [GRCh38]
Chr3:123348388 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.233G>A (p.Arg78His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001948641] Chr3:123752471 [GRCh38]
Chr3:123471318 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1387G>T (p.Val463Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001871386] Chr3:123733025 [GRCh38]
Chr3:123451872 [GRCh37]
Chr3:3q21.1
uncertain significance
NC_000003.11:g.(?_123426778)_(123453370_?)del deletion Aortic aneurysm, familial thoracic 7 [RCV001913224] Chr3:123426778..123453370 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4455A>C (p.Lys1485Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002043700]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161279] Chr3:123647388 [GRCh38]
Chr3:123366235 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5046C>T (p.Asp1682=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002543334]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334720]|not specified [RCV001844742] Chr3:123629542 [GRCh38]
Chr3:123348389 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4027A>G (p.Ile1343Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002043446] Chr3:123657387 [GRCh38]
Chr3:123376234 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1192G>C (p.Ala398Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002004208] Chr3:123733804 [GRCh38]
Chr3:123452651 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4842T>A (p.Asn1614Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002542747]|not specified [RCV001823820] Chr3:123638190 [GRCh38]
Chr3:123357037 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.305G>T (p.Gly102Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001907431]|Familial thoracic aortic aneurysm and aortic dissection [RCV002449492] Chr3:123752399 [GRCh38]
Chr3:123471246 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.229G>C (p.Gly77Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001963341] Chr3:123752475 [GRCh38]
Chr3:123471322 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1676C>T (p.Ser559Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001944410] Chr3:123722256 [GRCh38]
Chr3:123441103 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2978C>T (p.Ala993Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002036024]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161170] Chr3:123700490 [GRCh38]
Chr3:123419337 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4167C>A (p.Phe1389Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001937767] Chr3:123657247 [GRCh38]
Chr3:123376094 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4470G>A (p.Trp1490Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001876664] Chr3:123647373 [GRCh38]
Chr3:123366220 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.3592G>T (p.Ala1198Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001917037]|Inborn genetic diseases [RCV002558423] Chr3:123682284 [GRCh38]
Chr3:123401131 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3037C>T (p.Pro1013Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001919695] Chr3:123700431 [GRCh38]
Chr3:123419278 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4289-3C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002018980] Chr3:123649197 [GRCh38]
Chr3:123368044 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2273G>T (p.Gly758Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002036762] Chr3:123707871 [GRCh38]
Chr3:123426718 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1618A>T (p.Thr540Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001938245]|Aortic aneurysm, familial thoracic 7 [RCV002484521] Chr3:123725977 [GRCh38]
Chr3:123444824 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1153A>G (p.Arg385Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001937882] Chr3:123733843 [GRCh38]
Chr3:123452690 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5720_5731del (p.1905GE[1]) deletion Aortic aneurysm, familial thoracic 7 [RCV002018645] Chr3:123614119..123614130 [GRCh38]
Chr3:123332966..123332977 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4093_4094del (p.Ser1365fs) deletion Aortic aneurysm, familial thoracic 7 [RCV001941678] Chr3:123657320..123657321 [GRCh38]
Chr3:123376167..123376168 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.2065G>A (p.Asp689Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001979679] Chr3:123708773 [GRCh38]
Chr3:123427620 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1037C>A (p.Thr346Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001903007] Chr3:123733959 [GRCh38]
Chr3:123452806 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1016A>G (p.Gln339Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001870402]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334747] Chr3:123733980 [GRCh38]
Chr3:123452827 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3402_3403delinsTA (p.Gly1135Arg) indel Aortic aneurysm, familial thoracic 7 [RCV001953064] Chr3:123700065..123700066 [GRCh38]
Chr3:123418912..123418913 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.588G>C (p.Lys196Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002029952] Chr3:123738897 [GRCh38]
Chr3:123457744 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4993A>G (p.Asn1665Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001931587] Chr3:123629595 [GRCh38]
Chr3:123348442 [GRCh37]
Chr3:3q21.1
uncertain significance
NC_000003.11:g.(?_123332952)_(123386054_?)del deletion Aortic aneurysm, familial thoracic 7 [RCV001956045] Chr3:123332952..123386054 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.626T>C (p.Val209Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001864996] Chr3:123737506 [GRCh38]
Chr3:123456353 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1310-1G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002028935] Chr3:123733103 [GRCh38]
Chr3:123451950 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3561G>A (p.Val1187=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001978271] Chr3:123692739 [GRCh38]
Chr3:123411586 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.5438A>C (p.Lys1813Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001934353] Chr3:123618701 [GRCh38]
Chr3:123337548 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3222T>C (p.Asp1074=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001951126] Chr3:123700246 [GRCh38]
Chr3:123419093 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3966G>C (p.Gln1322His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001974849]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324375] Chr3:123664124 [GRCh38]
Chr3:123382971 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4534A>G (p.Ile1512Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001878588] Chr3:123647309 [GRCh38]
Chr3:123366156 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1490C>T (p.Ser497Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002016115] Chr3:123732922 [GRCh38]
Chr3:123451769 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3331G>C (p.Glu1111Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001958434] Chr3:123700137 [GRCh38]
Chr3:123418984 [GRCh37]
Chr3:3q21.1
uncertain significance
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1
pathogenic
NM_053025.4(MYLK):c.753A>G (p.Gln251=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001925609] Chr3:123737379 [GRCh38]
Chr3:123456226 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4962-2A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002036733] Chr3:123629628 [GRCh38]
Chr3:123348475 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.1968G>C (p.Trp656Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001920508]|Aortic aneurysm, familial thoracic 7 [RCV002478372] Chr3:123708870 [GRCh38]
Chr3:123427717 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3635C>A (p.Pro1212His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001904648] Chr3:123682241 [GRCh38]
Chr3:123401088 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.248G>A (p.Cys83Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002026074] Chr3:123752456 [GRCh38]
Chr3:123471303 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.245A>G (p.Asp82Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002015816] Chr3:123752459 [GRCh38]
Chr3:123471306 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5015A>G (p.Asn1672Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001865207]|Aortic aneurysm, familial thoracic 7 [RCV002490038]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334769] Chr3:123629573 [GRCh38]
Chr3:123348420 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2674G>A (p.Val892Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002011335] Chr3:123700794 [GRCh38]
Chr3:123419641 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4783_4784delinsGT (p.Asn1595Val) indel Aortic aneurysm, familial thoracic 7 [RCV001924965] Chr3:123640340..123640341 [GRCh38]
Chr3:123359187..123359188 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5558G>A (p.Arg1853His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001870170] Chr3:123614292 [GRCh38]
Chr3:123333139 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1438A>G (p.Arg480Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001922298] Chr3:123732974 [GRCh38]
Chr3:123451821 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5515G>A (p.Glu1839Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001932898] Chr3:123614335 [GRCh38]
Chr3:123333182 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3231C>A (p.Cys1077Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002035299] Chr3:123700237 [GRCh38]
Chr3:123419084 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.1090dup (p.Leu364fs) duplication Aortic aneurysm, familial thoracic 7 [RCV001922515] Chr3:123733905..123733906 [GRCh38]
Chr3:123452752..123452753 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2193A>G (p.Thr731=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001956598] Chr3:123707951 [GRCh38]
Chr3:123426798 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2927C>G (p.Pro976Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001919582] Chr3:123700541 [GRCh38]
Chr3:123419388 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2506G>T (p.Val836Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002046095] Chr3:123700962 [GRCh38]
Chr3:123419809 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3910C>G (p.His1304Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001931474]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370549]|not provided [RCV002255706] Chr3:123664180 [GRCh38]
Chr3:123383027 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4699C>T (p.Arg1567Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001902845]|Aortic aneurysm, familial thoracic 7 [RCV002478241]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334805] Chr3:123640425 [GRCh38]
Chr3:123359272 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2791C>T (p.Arg931Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV001923544]|Aortic aneurysm, familial thoracic 7 [RCV002507041]|not provided [RCV003318704] Chr3:123700677 [GRCh38]
Chr3:123419524 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4650C>A (p.Ile1550=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002090247] Chr3:123640474 [GRCh38]
Chr3:123359321 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4649T>C (p.Ile1550Thr) single nucleotide variant not provided [RCV002224350] Chr3:123640475 [GRCh38]
Chr3:123359322 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3087C>G (p.Ala1029=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002185540] Chr3:123700381 [GRCh38]
Chr3:123419228 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1152C>T (p.Thr384=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002104635] Chr3:123733844 [GRCh38]
Chr3:123452691 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1164C>A (p.Gly388=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002074770]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325649] Chr3:123733832 [GRCh38]
Chr3:123452679 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2409C>T (p.Cys803=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002127604] Chr3:123701491 [GRCh38]
Chr3:123420338 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2826G>A (p.Glu942=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002209752]|Familial thoracic aortic aneurysm and aortic dissection [RCV002441295] Chr3:123700642 [GRCh38]
Chr3:123419489 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3566-11T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002110628] Chr3:123682321 [GRCh38]
Chr3:123401168 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1335G>A (p.Val445=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002084976]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386950] Chr3:123733077 [GRCh38]
Chr3:123451924 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.241_244dup (p.Asp82fs) duplication not provided [RCV002224710] Chr3:123752459..123752460 [GRCh38]
Chr3:123471306..123471307 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.3504C>A (p.Tyr1168Ter) single nucleotide variant not provided [RCV002224751] Chr3:123692796 [GRCh38]
Chr3:123411643 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.4427G>A (p.Gly1476Glu) single nucleotide variant not provided [RCV002223657] Chr3:123647416 [GRCh38]
Chr3:123366263 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5637G>A (p.Lys1879=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002106365] Chr3:123614213 [GRCh38]
Chr3:123333060 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.774-11C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002090931] Chr3:123734233 [GRCh38]
Chr3:123453080 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5501-11_5501-10del deletion Aortic aneurysm, familial thoracic 7 [RCV002206718] Chr3:123614359..123614360 [GRCh38]
Chr3:123333206..123333207 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2190del (p.Thr731fs) deletion not provided [RCV002224576] Chr3:123707954 [GRCh38]
Chr3:123426801 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.2391-20T>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002109327] Chr3:123701529 [GRCh38]
Chr3:123420376 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.374-20A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002188318] Chr3:123740021 [GRCh38]
Chr3:123458868 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2463-12C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002144825] Chr3:123701017 [GRCh38]
Chr3:123419864 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4416-14C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002111581]|not specified [RCV003331297] Chr3:123647441 [GRCh38]
Chr3:123366288 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.576C>A (p.Val192=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002152864] Chr3:123738909 [GRCh38]
Chr3:123457756 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5307C>A (p.Gly1769=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002174788] Chr3:123620268 [GRCh38]
Chr3:123339115 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4416-18T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002196732] Chr3:123647445 [GRCh38]
Chr3:123366292 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1002G>A (p.Gln334=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002104923] Chr3:123733994 [GRCh38]
Chr3:123452841 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5136G>A (p.Gln1712=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002170856] Chr3:123626920 [GRCh38]
Chr3:123345767 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2390+1G>A single nucleotide variant not provided [RCV002224697] Chr3:123707753 [GRCh38]
Chr3:123426600 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.188_189del (p.Gln63fs) deletion not provided [RCV002223446] Chr3:123752515..123752516 [GRCh38]
Chr3:123471362..123471363 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.60T>C (p.Asp20=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002193946] Chr3:123793782 [GRCh38]
Chr3:123512629 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5244G>A (p.Thr1748=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002150362] Chr3:123620331 [GRCh38]
Chr3:123339178 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.755-12_755-11insT insertion Aortic aneurysm, familial thoracic 7 [RCV002195149] Chr3:123735427..123735428 [GRCh38]
Chr3:123454274..123454275 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4161C>T (p.Thr1387=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002212096] Chr3:123657253 [GRCh38]
Chr3:123376100 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5430T>C (p.Tyr1810=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002169510] Chr3:123618709 [GRCh38]
Chr3:123337556 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5643C>G (p.Thr1881=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002173953] Chr3:123614207 [GRCh38]
Chr3:123333054 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2390+9G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002090122] Chr3:123707745 [GRCh38]
Chr3:123426592 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1878G>C (p.Leu626=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002210568] Chr3:123709820 [GRCh38]
Chr3:123428667 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3704-14C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002135065] Chr3:123666360 [GRCh38]
Chr3:123385207 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1404C>T (p.Gly468=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002117157] Chr3:123733008 [GRCh38]
Chr3:123451855 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5369-20TCT[2] microsatellite Aortic aneurysm, familial thoracic 7 [RCV002175138]|Aortic aneurysm, familial thoracic 7 [RCV002494067] Chr3:123618782..123618784 [GRCh38]
Chr3:123337629..123337631 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4827C>G (p.Ala1609=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002150947] Chr3:123640297 [GRCh38]
Chr3:123359144 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1548C>T (p.Phe516=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002090930] Chr3:123726047 [GRCh38]
Chr3:123444894 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4914C>T (p.Ile1638=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002115145]|Familial thoracic aortic aneurysm and aortic dissection [RCV002337282] Chr3:123638118 [GRCh38]
Chr3:123356965 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2391-22_2391-13del deletion Aortic aneurysm, familial thoracic 7 [RCV002215160] Chr3:123701522..123701531 [GRCh38]
Chr3:123420369..123420378 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2103T>G (p.Ala701=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002147768] Chr3:123708735 [GRCh38]
Chr3:123427582 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4146C>T (p.Ala1382=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002094716] Chr3:123657268 [GRCh38]
Chr3:123376115 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2226C>T (p.Cys742=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002110128]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161574] Chr3:123707918 [GRCh38]
Chr3:123426765 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2148C>T (p.His716=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002112974]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307950] Chr3:123707996 [GRCh38]
Chr3:123426843 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1025C>G (p.Ser342Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002505881]|not provided [RCV002214302] Chr3:123733971 [GRCh38]
Chr3:123452818 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.885G>A (p.Lys295=) single nucleotide variant not provided [RCV002214303] Chr3:123734111 [GRCh38]
Chr3:123452958 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4020C>G (p.Ala1340=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002172655]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372844] Chr3:123657394 [GRCh38]
Chr3:123376241 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1341G>A (p.Trp447Ter) single nucleotide variant not provided [RCV002224379] Chr3:123733071 [GRCh38]
Chr3:123451918 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.1805-17T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002199362] Chr3:123709910 [GRCh38]
Chr3:123428757 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1476C>T (p.Ala492=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002101672] Chr3:123732936 [GRCh38]
Chr3:123451783 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.792A>G (p.Thr264=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002104083] Chr3:123734204 [GRCh38]
Chr3:123453051 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2141-19G>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002100154]|not provided [RCV003120815] Chr3:123708022 [GRCh38]
Chr3:123426869 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2390+20C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002137666] Chr3:123707734 [GRCh38]
Chr3:123426581 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2835G>A (p.Val945=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003089150]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434603]|not specified [RCV002222955] Chr3:123700633 [GRCh38]
Chr3:123419480 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1998A>G (p.Ser666=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002199752] Chr3:123708840 [GRCh38]
Chr3:123427687 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.384G>A (p.Ala128=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002182937]|Familial thoracic aortic aneurysm and aortic dissection [RCV002361439] Chr3:123739991 [GRCh38]
Chr3:123458838 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.897C>T (p.Ser299=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002200045] Chr3:123734099 [GRCh38]
Chr3:123452946 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5076C>A (p.Ala1692=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002179407] Chr3:123629512 [GRCh38]
Chr3:123348359 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4875A>G (p.Pro1625=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002216943] Chr3:123638157 [GRCh38]
Chr3:123357004 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3639G>C (p.Val1213=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002137866] Chr3:123682237 [GRCh38]
Chr3:123401084 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2391-16C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002082741]|not specified [RCV003235668] Chr3:123701525 [GRCh38]
Chr3:123420372 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.4321+13_4321+14del deletion Aortic aneurysm, familial thoracic 7 [RCV002081253] Chr3:123649148..123649149 [GRCh38]
Chr3:123367995..123367996 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.423-20C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002142551] Chr3:123739082 [GRCh38]
Chr3:123457929 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3420C>T (p.Thr1140=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002141047] Chr3:123700048 [GRCh38]
Chr3:123418895 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2550G>A (p.Arg850=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002155041] Chr3:123700918 [GRCh38]
Chr3:123419765 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3566-19G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002217550] Chr3:123682329 [GRCh38]
Chr3:123401176 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2463-7G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002119497] Chr3:123701012 [GRCh38]
Chr3:123419859 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4459C>A (p.Arg1487=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002202089] Chr3:123647384 [GRCh38]
Chr3:123366231 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3227A>C (p.Asn1076Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002221413] Chr3:123700241 [GRCh38]
Chr3:123419088 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2463-15C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002154910] Chr3:123701020 [GRCh38]
Chr3:123419867 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3195A>G (p.Glu1065=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002100947] Chr3:123700273 [GRCh38]
Chr3:123419120 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2055G>T (p.Val685=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002122365] Chr3:123708783 [GRCh38]
Chr3:123427630 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2140+11C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002119158] Chr3:123708687 [GRCh38]
Chr3:123427534 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2868C>T (p.Val956=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003114884] Chr3:123700600 [GRCh38]
Chr3:123419447 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.754+6_754+7insT insertion Aortic aneurysm, familial thoracic 7 [RCV003116195] Chr3:123737371..123737372 [GRCh38]
Chr3:123456218..123456219 [GRCh37]
Chr3:3q21.1
likely benign
NC_000003.11:g.(?_121489192)_(125313644_?)dup duplication Familial hypocalciuric hypercalcemia [RCV003111142] Chr3:121489192..125313644 [GRCh37]
Chr3:3q13.33-21.2
uncertain significance
NM_053025.4(MYLK):c.996C>G (p.Ala332=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003115729] Chr3:123734000 [GRCh38]
Chr3:123452847 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.27G>A (p.Ser9=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003115137] Chr3:123793815 [GRCh38]
Chr3:123512662 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1713G>A (p.Gln571=) single nucleotide variant not provided [RCV003120125] Chr3:123722219 [GRCh38]
Chr3:123441066 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4691A>G (p.Lys1564Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003118616] Chr3:123640433 [GRCh38]
Chr3:123359280 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1456A>G (p.Ser486Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003118625] Chr3:123732956 [GRCh38]
Chr3:123451803 [GRCh37]
Chr3:3q21.1
uncertain significance
NC_000003.11:g.(?_123003455)_(123512688_?)del deletion Aortic aneurysm, familial thoracic 7 [RCV003122993] Chr3:123003455..123512688 [GRCh37]
Chr3:3q21.1
pathogenic
NC_000003.11:g.(?_123401058)_(123401181_?)dup duplication Aortic aneurysm, familial thoracic 7 [RCV003122994] Chr3:123401058..123401181 [GRCh37]
Chr3:3q21.1
uncertain significance
NC_000003.11:g.(?_123003455)_(125313644_?)dup duplication Aortic aneurysm, familial thoracic 7 [RCV003122995] Chr3:123003455..125313644 [GRCh37]
Chr3:3q21.1-21.2
uncertain significance
NM_053025.4(MYLK):c.1060C>T (p.Pro354Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003121488]|Familial thoracic aortic aneurysm and aortic dissection [RCV003341533] Chr3:123733936 [GRCh38]
Chr3:123452783 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4012C>T (p.Pro1338Ser) single nucleotide variant not provided [RCV003156540] Chr3:123657402 [GRCh38]
Chr3:123376249 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3283G>A (p.Gly1095Arg) single nucleotide variant not provided [RCV003152039] Chr3:123700185 [GRCh38]
Chr3:123419032 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.472del (p.Glu158fs) deletion Aortic aneurysm, familial thoracic 7 [RCV003094156]|See cases [RCV002252570] Chr3:123739013 [GRCh38]
Chr3:123457860 [GRCh37]
Chr3:3q21.1
likely pathogenic|uncertain significance
NM_053025.4(MYLK):c.4807C>G (p.Leu1603Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278413] Chr3:123640317 [GRCh38]
Chr3:123359164 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2453C>T (p.Ala818Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278416] Chr3:123701447 [GRCh38]
Chr3:123420294 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.33C>A (p.His11Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002452017] Chr3:123793809 [GRCh38]
Chr3:123512656 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2617C>T (p.Leu873=) single nucleotide variant not provided [RCV002263332] Chr3:123700851 [GRCh38]
Chr3:123419698 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.373+4A>T single nucleotide variant not provided [RCV002267512] Chr3:123752327 [GRCh38]
Chr3:123471174 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3712C>T (p.Pro1238Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002294591] Chr3:123666338 [GRCh38]
Chr3:123385185 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1556T>C (p.Val519Ala) single nucleotide variant not provided [RCV002261745] Chr3:123726039 [GRCh38]
Chr3:123444886 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2849A>G (p.Gln950Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002435329] Chr3:123700619 [GRCh38]
Chr3:123419466 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.899C>G (p.Pro300Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003096323]|not provided [RCV002281243] Chr3:123734097 [GRCh38]
Chr3:123452944 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2707A>C (p.Lys903Gln) single nucleotide variant not provided [RCV003236234] Chr3:123700761 [GRCh38]
Chr3:123419608 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2654A>C (p.Glu885Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003102076]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453085] Chr3:123700814 [GRCh38]
Chr3:123419661 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2866G>A (p.Val956Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002437626]|not provided [RCV003322920] Chr3:123700602 [GRCh38]
Chr3:123419449 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4963G>A (p.Val1655Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002351341] Chr3:123629625 [GRCh38]
Chr3:123348472 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3578G>T (p.Ser1193Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002455051] Chr3:123682298 [GRCh38]
Chr3:123401145 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3654T>C (p.Ser1218=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002452503] Chr3:123667186 [GRCh38]
Chr3:123386033 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5460T>C (p.Val1820=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002349723] Chr3:123618679 [GRCh38]
Chr3:123337526 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2231T>C (p.Ile744Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002420142] Chr3:123707913 [GRCh38]
Chr3:123426760 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.543C>T (p.Ser181=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002349595] Chr3:123738942 [GRCh38]
Chr3:123457789 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2040T>C (p.Leu680=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002419930] Chr3:123708798 [GRCh38]
Chr3:123427645 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2725A>T (p.Thr909Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002453221] Chr3:123700743 [GRCh38]
Chr3:123419590 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.272T>C (p.Leu91Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002437476] Chr3:123752432 [GRCh38]
Chr3:123471279 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.269G>A (p.Ser90Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002437380] Chr3:123752435 [GRCh38]
Chr3:123471282 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.811G>T (p.Val271Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002421290] Chr3:123734185 [GRCh38]
Chr3:123453032 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.70G>T (p.Val24Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002367366] Chr3:123793772 [GRCh38]
Chr3:123512619 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2658G>A (p.Ala886=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002453114] Chr3:123700810 [GRCh38]
Chr3:123419657 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.2637G>A (p.Thr879=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003102053]|Familial thoracic aortic aneurysm and aortic dissection [RCV002452953] Chr3:123700831 [GRCh38]
Chr3:123419678 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.626T>G (p.Val209Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002368656] Chr3:123737506 [GRCh38]
Chr3:123456353 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2731T>C (p.Ser911Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002437490] Chr3:123700737 [GRCh38]
Chr3:123419584 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3704-3C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002348949] Chr3:123666349 [GRCh38]
Chr3:123385196 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3569C>T (p.Ala1190Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002454972] Chr3:123682307 [GRCh38]
Chr3:123401154 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.356T>C (p.Val119Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002454996] Chr3:123752348 [GRCh38]
Chr3:123471195 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2739C>A (p.Asp913Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002437564]|not provided [RCV003235725] Chr3:123700729 [GRCh38]
Chr3:123419576 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.5002G>A (p.Glu1668Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002351375] Chr3:123629586 [GRCh38]
Chr3:123348433 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3653-2A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002452495] Chr3:123667189 [GRCh38]
Chr3:123386036 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.329A>G (p.Asn110Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002454666] Chr3:123752375 [GRCh38]
Chr3:123471222 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5513C>T (p.Pro1838Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002351740] Chr3:123614337 [GRCh38]
Chr3:123333184 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1229A>G (p.Asp410Gly) single nucleotide variant Inborn genetic diseases [RCV003281771] Chr3:123733767 [GRCh38]
Chr3:123452614 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3458G>A (p.Cys1153Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003300934] Chr3:123692842 [GRCh38]
Chr3:123411689 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3160A>C (p.Lys1054Gln) single nucleotide variant Inborn genetic diseases [RCV003299456] Chr3:123700308 [GRCh38]
Chr3:123419155 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5732A>T (p.Glu1911Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002347735] Chr3:123614118 [GRCh38]
Chr3:123332965 [GRCh37]
Chr3:3q21.1
uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
NM_053025.4(MYLK):c.1309G>T (p.Val437Phe) single nucleotide variant not provided [RCV002302631] Chr3:123733687 [GRCh38]
Chr3:123452534 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2110G>A (p.Val704Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002417487] Chr3:123708728 [GRCh38]
Chr3:123427575 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3751G>A (p.Ala1251Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002569357]|Familial thoracic aortic aneurysm and aortic dissection [RCV003164728]|not provided [RCV002467188] Chr3:123666299 [GRCh38]
Chr3:123385146 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.561G>A (p.Arg187=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003096814]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345010] Chr3:123738924 [GRCh38]
Chr3:123457771 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1944G>T (p.Gly648=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002413232] Chr3:123708894 [GRCh38]
Chr3:123427741 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2125G>C (p.Val709Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002417691] Chr3:123708713 [GRCh38]
Chr3:123427560 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5138G>A (p.Cys1713Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002338188] Chr3:123626918 [GRCh38]
Chr3:123345765 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.890G>C (p.Cys297Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002298112] Chr3:123734106 [GRCh38]
Chr3:123452953 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3893T>C (p.Leu1298Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003094431]|Familial thoracic aortic aneurysm and aortic dissection [RCV002357419] Chr3:123664197 [GRCh38]
Chr3:123383044 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3249G>T (p.Gly1083=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002324857] Chr3:123700219 [GRCh38]
Chr3:123419066 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.640G>A (p.Gly214Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003120945]|Familial thoracic aortic aneurysm and aortic dissection [RCV002361619] Chr3:123737492 [GRCh38]
Chr3:123456339 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.617G>A (p.Arg206His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003103273]|Familial thoracic aortic aneurysm and aortic dissection [RCV002353766]|not provided [RCV003128863] Chr3:123737515 [GRCh38]
Chr3:123456362 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2080A>G (p.Thr694Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002295256] Chr3:123708758 [GRCh38]
Chr3:123427605 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2931C>T (p.Ala977=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002440074] Chr3:123700537 [GRCh38]
Chr3:123419384 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2081C>A (p.Thr694Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002423880] Chr3:123708757 [GRCh38]
Chr3:123427604 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3849C>T (p.His1283=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002355464] Chr3:123664241 [GRCh38]
Chr3:123383088 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.72T>G (p.Val24=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002380009] Chr3:123793770 [GRCh38]
Chr3:123512617 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3463G>T (p.Val1155Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002337482] Chr3:123692837 [GRCh38]
Chr3:123411684 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4849T>C (p.Ser1617Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340262] Chr3:123638183 [GRCh38]
Chr3:123357030 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3333G>A (p.Glu1111=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002326506] Chr3:123700135 [GRCh38]
Chr3:123418982 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1085G>A (p.Gly362Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002425609] Chr3:123733911 [GRCh38]
Chr3:123452758 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3131C>T (p.Ala1044Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002295217] Chr3:123700337 [GRCh38]
Chr3:123419184 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2690T>C (p.Phe897Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002428944] Chr3:123700778 [GRCh38]
Chr3:123419625 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3285del (p.Thr1096fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002445797] Chr3:123700183 [GRCh38]
Chr3:123419030 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1223A>G (p.Gln408Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002361824] Chr3:123733773 [GRCh38]
Chr3:123452620 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.916C>G (p.Pro306Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002378856] Chr3:123734080 [GRCh38]
Chr3:123452927 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4659G>T (p.Glu1553Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002330473] Chr3:123640465 [GRCh38]
Chr3:123359312 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2911G>C (p.Val971Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003102868]|Familial thoracic aortic aneurysm and aortic dissection [RCV002439838] Chr3:123700557 [GRCh38]
Chr3:123419404 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4109T>C (p.Ile1370Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002323391] Chr3:123657305 [GRCh38]
Chr3:123376152 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4504G>A (p.Glu1502Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002339862] Chr3:123647339 [GRCh38]
Chr3:123366186 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.240G>T (p.Leu80=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002459725] Chr3:123752464 [GRCh38]
Chr3:123471311 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1141A>G (p.Thr381Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002457070] Chr3:123733855 [GRCh38]
Chr3:123452702 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.355G>A (p.Val119Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002339776] Chr3:123752349 [GRCh38]
Chr3:123471196 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3565+4G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002339802] Chr3:123692731 [GRCh38]
Chr3:123411578 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1155G>A (p.Arg385=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003094380]|Familial thoracic aortic aneurysm and aortic dissection [RCV002355288] Chr3:123733841 [GRCh38]
Chr3:123452688 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4532G>C (p.Ser1511Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340060] Chr3:123647311 [GRCh38]
Chr3:123366158 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2792G>T (p.Arg931Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002441442] Chr3:123700676 [GRCh38]
Chr3:123419523 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.389A>C (p.Gln130Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002357442] Chr3:123739986 [GRCh38]
Chr3:123458833 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2318A>G (p.Asn773Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003101737]|Familial thoracic aortic aneurysm and aortic dissection [RCV002448074] Chr3:123707826 [GRCh38]
Chr3:123426673 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3091C>T (p.Pro1031Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002325811] Chr3:123700377 [GRCh38]
Chr3:123419224 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1758G>C (p.Glu586Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002407580] Chr3:123722174 [GRCh38]
Chr3:123441021 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.620T>C (p.Val207Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002353867] Chr3:123737512 [GRCh38]
Chr3:123456359 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1390T>G (p.Tyr464Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003103669]|Familial thoracic aortic aneurysm and aortic dissection [RCV002396685] Chr3:123733022 [GRCh38]
Chr3:123451869 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1586A>G (p.Gln529Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002398314] Chr3:123726009 [GRCh38]
Chr3:123444856 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5193C>T (p.Leu1731=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003096645]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338523] Chr3:123626863 [GRCh38]
Chr3:123345710 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1631G>C (p.Arg544Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002401299] Chr3:123725964 [GRCh38]
Chr3:123444811 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2597G>A (p.Gly866Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002426183] Chr3:123700871 [GRCh38]
Chr3:123419718 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1178A>G (p.Asp393Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002339995] Chr3:123733818 [GRCh38]
Chr3:123452665 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.839C>G (p.Ser280Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002434876] Chr3:123734157 [GRCh38]
Chr3:123453004 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2417A>G (p.Gln806Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002459758] Chr3:123701483 [GRCh38]
Chr3:123420330 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.344G>T (p.Arg115Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002457195] Chr3:123752360 [GRCh38]
Chr3:123471207 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1072G>A (p.Ala358Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002423799] Chr3:123733924 [GRCh38]
Chr3:123452771 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3584A>G (p.Asn1195Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002460285] Chr3:123682292 [GRCh38]
Chr3:123401139 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1651G>A (p.Gly551Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002403668]|not provided [RCV003149031] Chr3:123725944 [GRCh38]
Chr3:123444791 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2053G>A (p.Val685Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002421853] Chr3:123708785 [GRCh38]
Chr3:123427632 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3289G>A (p.Ala1097Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002299013]|Familial thoracic aortic aneurysm and aortic dissection [RCV002443298] Chr3:123700179 [GRCh38]
Chr3:123419026 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3149T>C (p.Met1050Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003099239]|Familial thoracic aortic aneurysm and aortic dissection [RCV002320787]|not provided [RCV003443030] Chr3:123700319 [GRCh38]
Chr3:123419166 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3339G>C (p.Lys1113Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002326553] Chr3:123700129 [GRCh38]
Chr3:123418976 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2534G>C (p.Arg845Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002433194] Chr3:123700934 [GRCh38]
Chr3:123419781 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4551C>T (p.His1517=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340166] Chr3:123647292 [GRCh38]
Chr3:123366139 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2551C>T (p.Pro851Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002455825] Chr3:123700917 [GRCh38]
Chr3:123419764 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3319G>A (p.Val1107Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002326361] Chr3:123700149 [GRCh38]
Chr3:123418996 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3078G>C (p.Val1026=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319846] Chr3:123700390 [GRCh38]
Chr3:123419237 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1670C>T (p.Ala557Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003097093]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395123] Chr3:123722262 [GRCh38]
Chr3:123441109 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3902G>T (p.Arg1301Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002373098] Chr3:123664188 [GRCh38]
Chr3:123383035 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3927_3929del (p.Leu1311del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002373201] Chr3:123664161..123664163 [GRCh38]
Chr3:123383008..123383010 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5243C>T (p.Thr1748Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340912] Chr3:123620332 [GRCh38]
Chr3:123339179 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1651+8C>T single nucleotide variant not specified [RCV002302584] Chr3:123725936 [GRCh38]
Chr3:123444783 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.5323G>C (p.Gly1775Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002346799] Chr3:123620252 [GRCh38]
Chr3:123339099 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4361T>A (p.Ile1454Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002332357] Chr3:123649025 [GRCh38]
Chr3:123367872 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4996G>A (p.Asp1666Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342969] Chr3:123629592 [GRCh38]
Chr3:123348439 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4569G>A (p.Gln1523=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340240] Chr3:123647274 [GRCh38]
Chr3:123366121 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5709G>C (p.Glu1903Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002347596] Chr3:123614141 [GRCh38]
Chr3:123332988 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1480G>T (p.Gly494Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002397138] Chr3:123732932 [GRCh38]
Chr3:123451779 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4857G>A (p.Lys1619=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340311] Chr3:123638175 [GRCh38]
Chr3:123357022 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5664T>G (p.Leu1888=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002347333] Chr3:123614186 [GRCh38]
Chr3:123333033 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.209G>A (p.Gly70Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002424177] Chr3:123752495 [GRCh38]
Chr3:123471342 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4320T>C (p.Asp1440=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002332038] Chr3:123649163 [GRCh38]
Chr3:123368010 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.232C>T (p.Arg78Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002448193] Chr3:123752472 [GRCh38]
Chr3:123471319 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.15G>C (p.Lys5Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002298955] Chr3:123793827 [GRCh38]
Chr3:123512674 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1743C>T (p.Tyr581=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002401438] Chr3:123722189 [GRCh38]
Chr3:123441036 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4013C>G (p.Pro1338Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002359427] Chr3:123657401 [GRCh38]
Chr3:123376248 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4568A>G (p.Gln1523Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340228] Chr3:123647275 [GRCh38]
Chr3:123366122 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5213A>G (p.Lys1738Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002344275] Chr3:123626843 [GRCh38]
Chr3:123345690 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3917G>C (p.Gly1306Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002373158] Chr3:123664173 [GRCh38]
Chr3:123383020 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3918C>T (p.Gly1306=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002373162] Chr3:123664172 [GRCh38]
Chr3:123383019 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2350G>T (p.Val784Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002448405] Chr3:123707794 [GRCh38]
Chr3:123426641 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4276G>C (p.Glu1426Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002330069] Chr3:123657138 [GRCh38]
Chr3:123375985 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5402C>T (p.Ala1801Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002347278] Chr3:123618737 [GRCh38]
Chr3:123337584 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5403T>G (p.Ala1801=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002347283] Chr3:123618736 [GRCh38]
Chr3:123337583 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5313A>G (p.Lys1771=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002344666] Chr3:123620262 [GRCh38]
Chr3:123339109 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.96C>G (p.Ala32=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002376639] Chr3:123793746 [GRCh38]
Chr3:123512593 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.390G>C (p.Gln130His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002373132] Chr3:123739985 [GRCh38]
Chr3:123458832 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4014T>G (p.Pro1338=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002359440] Chr3:123657400 [GRCh38]
Chr3:123376247 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.52A>G (p.Ser18Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002344575] Chr3:123793790 [GRCh38]
Chr3:123512637 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1878G>T (p.Leu626=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002415245] Chr3:123709820 [GRCh38]
Chr3:123428667 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4086T>C (p.Ala1362=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002323156] Chr3:123657328 [GRCh38]
Chr3:123376175 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4620C>T (p.Ile1540=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002330377] Chr3:123640504 [GRCh38]
Chr3:123359351 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2975C>G (p.Pro992Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002442137] Chr3:123700493 [GRCh38]
Chr3:123419340 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3083A>G (p.Asn1028Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319900] Chr3:123700385 [GRCh38]
Chr3:123419232 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.21T>C (p.Val7=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002425727] Chr3:123793821 [GRCh38]
Chr3:123512668 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1572T>A (p.Ala524=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002405674] Chr3:123726023 [GRCh38]
Chr3:123444870 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4678C>T (p.Arg1560Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002330525] Chr3:123640446 [GRCh38]
Chr3:123359293 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5605A>G (p.Ile1869Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002344923] Chr3:123614245 [GRCh38]
Chr3:123333092 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1843G>A (p.Val615Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002412889] Chr3:123709855 [GRCh38]
Chr3:123428702 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2286C>T (p.Cys762=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002446160] Chr3:123707858 [GRCh38]
Chr3:123426705 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5625T>G (p.Asp1875Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002345047] Chr3:123614225 [GRCh38]
Chr3:123333072 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5629G>T (p.Asp1877Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002345055] Chr3:123614221 [GRCh38]
Chr3:123333068 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.184C>G (p.Pro62Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002412986] Chr3:123752520 [GRCh38]
Chr3:123471367 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3130G>C (p.Ala1044Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002320596] Chr3:123700338 [GRCh38]
Chr3:123419185 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.883A>G (p.Lys295Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002449817] Chr3:123734113 [GRCh38]
Chr3:123452960 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1538C>T (p.Ala513Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003095302]|Familial thoracic aortic aneurysm and aortic dissection [RCV002403080] Chr3:123726057 [GRCh38]
Chr3:123444904 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5642C>T (p.Thr1881Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002345133] Chr3:123614208 [GRCh38]
Chr3:123333055 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4720G>A (p.Glu1574Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002335413] Chr3:123640404 [GRCh38]
Chr3:123359251 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3134A>G (p.Glu1045Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002320625] Chr3:123700334 [GRCh38]
Chr3:123419181 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5017G>A (p.Val1673Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003096567]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343127] Chr3:123629571 [GRCh38]
Chr3:123348418 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3995A>T (p.Asp1332Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002321146] Chr3:123657419 [GRCh38]
Chr3:123376266 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2726C>G (p.Thr909Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002302841] Chr3:123700742 [GRCh38]
Chr3:123419589 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1641G>C (p.Trp547Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002403563] Chr3:123725954 [GRCh38]
Chr3:123444801 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.585C>T (p.Leu195=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002353389] Chr3:123738900 [GRCh38]
Chr3:123457747 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1607C>G (p.Ser536Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002392683] Chr3:123725988 [GRCh38]
Chr3:123444835 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.852G>T (p.Lys284Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002414436] Chr3:123734144 [GRCh38]
Chr3:123452991 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4635G>A (p.Glu1545=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342579] Chr3:123640489 [GRCh38]
Chr3:123359336 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.290A>G (p.His97Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003102865]|Familial thoracic aortic aneurysm and aortic dissection [RCV002439804] Chr3:123752414 [GRCh38]
Chr3:123471261 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.5041G>A (p.Asp1681Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002335668] Chr3:123629547 [GRCh38]
Chr3:123348394 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1382T>C (p.Ile461Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002381201] Chr3:123733030 [GRCh38]
Chr3:123451877 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5238+13T>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003013768] Chr3:123626805 [GRCh38]
Chr3:123345652 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1797C>T (p.Thr599=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003074177] Chr3:123722135 [GRCh38]
Chr3:123440982 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4415C>T (p.Ser1472Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002616171] Chr3:123648971 [GRCh38]
Chr3:123367818 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.169C>G (p.Arg57Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002979821]|Inborn genetic diseases [RCV002995654] Chr3:123752535 [GRCh38]
Chr3:123471382 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1651+8C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002994768] Chr3:123725936 [GRCh38]
Chr3:123444783 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.198G>A (p.Trp66Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002730849] Chr3:123752506 [GRCh38]
Chr3:123471353 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4453A>G (p.Lys1485Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002880856] Chr3:123647390 [GRCh38]
Chr3:123366237 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3095C>T (p.Ala1032Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002730853] Chr3:123700373 [GRCh38]
Chr3:123419220 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4024G>A (p.Asp1342Asn) single nucleotide variant Inborn genetic diseases [RCV002751831] Chr3:123657390 [GRCh38]
Chr3:123376237 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1076_1077dup (p.Gly360fs) duplication Aortic aneurysm, familial thoracic 7 [RCV002880607] Chr3:123733918..123733919 [GRCh38]
Chr3:123452765..123452766 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3751G>T (p.Ala1251Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003074656] Chr3:123666299 [GRCh38]
Chr3:123385146 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2965A>T (p.Lys989Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002843539] Chr3:123700503 [GRCh38]
Chr3:123419350 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.4262T>C (p.Leu1421Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002819802] Chr3:123657152 [GRCh38]
Chr3:123375999 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2115C>T (p.Arg705=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002974942] Chr3:123708723 [GRCh38]
Chr3:123427570 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.232C>G (p.Arg78Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003076880]|Familial thoracic aortic aneurysm and aortic dissection [RCV003349004] Chr3:123752472 [GRCh38]
Chr3:123471319 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3086C>A (p.Ala1029Asp) single nucleotide variant Inborn genetic diseases [RCV002778492] Chr3:123700382 [GRCh38]
Chr3:123419229 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.165+10G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002755976] Chr3:123793667 [GRCh38]
Chr3:123512514 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4962-13C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002996564] Chr3:123629639 [GRCh38]
Chr3:123348486 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3876_3937del (p.Ser1293fs) deletion Aortic aneurysm, familial thoracic 7 [RCV002880225] Chr3:123664153..123664214 [GRCh38]
Chr3:123383000..123383061 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.4493A>G (p.Tyr1498Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003032759] Chr3:123647350 [GRCh38]
Chr3:123366197 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2462+6T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002842331] Chr3:123701432 [GRCh38]
Chr3:123420279 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.822G>T (p.Glu274Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003014399] Chr3:123734174 [GRCh38]
Chr3:123453021 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1782C>T (p.Cys594=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003095833] Chr3:123722150 [GRCh38]
Chr3:123440997 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3704-15C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002996017] Chr3:123666361 [GRCh38]
Chr3:123385208 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3109C>G (p.Pro1037Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002904817] Chr3:123700359 [GRCh38]
Chr3:123419206 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1939T>C (p.Ser647Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003015058] Chr3:123709759 [GRCh38]
Chr3:123428606 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5715_5720del (p.1905GE[2]) deletion Aortic aneurysm, familial thoracic 7 [RCV002903983] Chr3:123614130..123614135 [GRCh38]
Chr3:123332977..123332982 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3832-7C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002616466] Chr3:123664265 [GRCh38]
Chr3:123383112 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4644G>A (p.Glu1548=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003076711]|not specified [RCV003331423] Chr3:123640480 [GRCh38]
Chr3:123359327 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5273T>C (p.Leu1758Pro) single nucleotide variant not provided [RCV002462486] Chr3:123620302 [GRCh38]
Chr3:123339149 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2395C>T (p.Arg799Trp) single nucleotide variant Inborn genetic diseases [RCV002793955]|not provided [RCV003128886] Chr3:123701505 [GRCh38]
Chr3:123420352 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2395C>A (p.Arg799=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003076608] Chr3:123701505 [GRCh38]
Chr3:123420352 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4773C>T (p.Ile1591=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002843453] Chr3:123640351 [GRCh38]
Chr3:123359198 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.443C>T (p.Ala148Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002731479] Chr3:123739042 [GRCh38]
Chr3:123457889 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2237G>A (p.Gly746Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002623057] Chr3:123707907 [GRCh38]
Chr3:123426754 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2140+6G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002914145] Chr3:123708692 [GRCh38]
Chr3:123427539 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2021G>T (p.Arg674Ile) single nucleotide variant Inborn genetic diseases [RCV002870165] Chr3:123708817 [GRCh38]
Chr3:123427664 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4289-5C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002998766] Chr3:123649199 [GRCh38]
Chr3:123368046 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4575G>A (p.Val1525=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002871538] Chr3:123647268 [GRCh38]
Chr3:123366115 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1403G>A (p.Gly468Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003081734]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161713]|not specified [RCV003324071] Chr3:123733009 [GRCh38]
Chr3:123451856 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2210G>A (p.Ser737Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002621653] Chr3:123707934 [GRCh38]
Chr3:123426781 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3986-19T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002640588] Chr3:123657447 [GRCh38]
Chr3:123376294 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1778C>T (p.Ser593Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002637580] Chr3:123722154 [GRCh38]
Chr3:123441001 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2411G>A (p.Ser804Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002825282] Chr3:123701489 [GRCh38]
Chr3:123420336 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.166-8del deletion Aortic aneurysm, familial thoracic 7 [RCV002800430] Chr3:123752546 [GRCh38]
Chr3:123471393 [GRCh37]
Chr3:3q21.1
benign
NM_053025.4(MYLK):c.5006C>T (p.Thr1669Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002909943] Chr3:123629582 [GRCh38]
Chr3:123348429 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.932A>G (p.Asn311Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003002834]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382985]|not provided [RCV003151906] Chr3:123734064 [GRCh38]
Chr3:123452911 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3781G>A (p.Val1261Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002953677] Chr3:123666269 [GRCh38]
Chr3:123385116 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2681A>G (p.Gln894Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003079260]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294456] Chr3:123700787 [GRCh38]
Chr3:123419634 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1673G>C (p.Arg558Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002637738]|Familial thoracic aortic aneurysm and aortic dissection [RCV003341517] Chr3:123722259 [GRCh38]
Chr3:123441106 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2829G>A (p.Arg943=) single nucleotide variant not specified [RCV002510270] Chr3:123700639 [GRCh38]
Chr3:123419486 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2140+17C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003019474] Chr3:123708681 [GRCh38]
Chr3:123427528 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.118C>T (p.Arg40Trp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003078972] Chr3:123793724 [GRCh38]
Chr3:123512571 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3449-20C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002760921] Chr3:123692871 [GRCh38]
Chr3:123411718 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1456A>T (p.Ser486Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003020681] Chr3:123732956 [GRCh38]
Chr3:123451803 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5731G>T (p.Glu1911Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002658492] Chr3:123614119 [GRCh38]
Chr3:123332966 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2529T>C (p.Ser843=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002736043] Chr3:123700939 [GRCh38]
Chr3:123419786 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1258C>T (p.Pro420Ser) single nucleotide variant not provided [RCV002509933] Chr3:123733738 [GRCh38]
Chr3:123452585 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5148T>A (p.His1716Gln) single nucleotide variant Inborn genetic diseases [RCV002925620] Chr3:123626908 [GRCh38]
Chr3:123345755 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.724G>A (p.Ala242Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002619718] Chr3:123737408 [GRCh38]
Chr3:123456255 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4978C>T (p.Pro1660Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003054031] Chr3:123629610 [GRCh38]
Chr3:123348457 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2164T>G (p.Trp722Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002736423] Chr3:123707980 [GRCh38]
Chr3:123426827 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2367C>T (p.Ala789=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002979744]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382982] Chr3:123707777 [GRCh38]
Chr3:123426624 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1446T>C (p.Ser482=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002592887] Chr3:123732966 [GRCh38]
Chr3:123451813 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3927A>G (p.Thr1309=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003019243] Chr3:123664163 [GRCh38]
Chr3:123383010 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2814_2815del (p.Val938_Ser939insTer) microsatellite Aortic aneurysm, familial thoracic 7 [RCV002659694] Chr3:123700653..123700654 [GRCh38]
Chr3:123419500..123419501 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.773+16G>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002912515]|not specified [RCV003324051] Chr3:123735382 [GRCh38]
Chr3:123454229 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2818G>A (p.Glu940Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002760255] Chr3:123700650 [GRCh38]
Chr3:123419497 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1865C>T (p.Ala622Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002592084] Chr3:123709833 [GRCh38]
Chr3:123428680 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2687A>G (p.Asp896Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002638083] Chr3:123700781 [GRCh38]
Chr3:123419628 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4578T>A (p.Asp1526Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003077881] Chr3:123647265 [GRCh38]
Chr3:123366112 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5500+16G>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002848142] Chr3:123618623 [GRCh38]
Chr3:123337470 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.61_62delinsTA (p.Pro21Tyr) indel Aortic aneurysm, familial thoracic 7 [RCV003052983] Chr3:123793780..123793781 [GRCh38]
Chr3:123512627..123512628 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3448+14G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002912894] Chr3:123700006 [GRCh38]
Chr3:123418853 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1779C>T (p.Ser593=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002796046] Chr3:123722153 [GRCh38]
Chr3:123441000 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4632G>A (p.Gly1544=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003054075] Chr3:123640492 [GRCh38]
Chr3:123359339 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5211G>A (p.Lys1737=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003080378] Chr3:123626845 [GRCh38]
Chr3:123345692 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3730C>T (p.Pro1244Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002927535] Chr3:123666320 [GRCh38]
Chr3:123385167 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.422+14G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002781357] Chr3:123739939 [GRCh38]
Chr3:123458786 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4169A>G (p.Asn1390Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003078381] Chr3:123657245 [GRCh38]
Chr3:123376092 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2463-14T>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002592477] Chr3:123701019 [GRCh38]
Chr3:123419866 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1108dup (p.Glu370fs) duplication Aortic aneurysm, familial thoracic 7 [RCV003036813] Chr3:123733887..123733888 [GRCh38]
Chr3:123452734..123452735 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2511T>A (p.Gly837=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002735614] Chr3:123700957 [GRCh38]
Chr3:123419804 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1958A>G (p.Glu653Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002976429] Chr3:123708880 [GRCh38]
Chr3:123427727 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4850C>A (p.Ser1617Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002637066] Chr3:123638182 [GRCh38]
Chr3:123357029 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3324T>A (p.His1108Gln) single nucleotide variant Inborn genetic diseases [RCV002854414] Chr3:123700144 [GRCh38]
Chr3:123418991 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.423-18C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002876066] Chr3:123739080 [GRCh38]
Chr3:123457927 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1652-19T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002800801] Chr3:123722299 [GRCh38]
Chr3:123441146 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4671G>T (p.Leu1557=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003024974] Chr3:123640453 [GRCh38]
Chr3:123359300 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4620-13C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003058740] Chr3:123640517 [GRCh38]
Chr3:123359364 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2121G>C (p.Gln707His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003085404] Chr3:123708717 [GRCh38]
Chr3:123427564 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3703+13G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002890433] Chr3:123667124 [GRCh38]
Chr3:123385971 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4468T>C (p.Trp1490Arg) single nucleotide variant Inborn genetic diseases [RCV002853895] Chr3:123647375 [GRCh38]
Chr3:123366222 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5494A>T (p.Ile1832Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002829785] Chr3:123618645 [GRCh38]
Chr3:123337492 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5031C>G (p.Thr1677=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002919187] Chr3:123629557 [GRCh38]
Chr3:123348404 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.18G>A (p.Leu6=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003083131] Chr3:123793824 [GRCh38]
Chr3:123512671 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1854C>G (p.Ser618Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003024202] Chr3:123709844 [GRCh38]
Chr3:123428691 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2390+8T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002740993] Chr3:123707746 [GRCh38]
Chr3:123426593 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.856G>C (p.Asp286His) single nucleotide variant Inborn genetic diseases [RCV002891587] Chr3:123734140 [GRCh38]
Chr3:123452987 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3907G>C (p.Glu1303Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002664201] Chr3:123664183 [GRCh38]
Chr3:123383030 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.461G>C (p.Ser154Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002928224] Chr3:123739024 [GRCh38]
Chr3:123457871 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3869A>C (p.Glu1290Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002801795] Chr3:123664221 [GRCh38]
Chr3:123383068 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.431T>G (p.Phe144Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002928226] Chr3:123739054 [GRCh38]
Chr3:123457901 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2394C>A (p.Asn798Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002790425] Chr3:123701506 [GRCh38]
Chr3:123420353 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1259C>T (p.Pro420Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003085713]|not provided [RCV003320913] Chr3:123733737 [GRCh38]
Chr3:123452584 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3626C>T (p.Ser1209Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002595495]|Inborn genetic diseases [RCV003377889] Chr3:123682250 [GRCh38]
Chr3:123401097 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4359A>T (p.Thr1453=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002710564] Chr3:123649027 [GRCh38]
Chr3:123367874 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1692C>T (p.Gly564=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002625295] Chr3:123722240 [GRCh38]
Chr3:123441087 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2289A>G (p.Lys763=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002573972] Chr3:123707855 [GRCh38]
Chr3:123426702 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.697T>G (p.Cys233Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002917701] Chr3:123737435 [GRCh38]
Chr3:123456282 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1632G>A (p.Arg544=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003041896] Chr3:123725963 [GRCh38]
Chr3:123444810 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5500+7T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002958454] Chr3:123618632 [GRCh38]
Chr3:123337479 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1517-5C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003056505] Chr3:123726083 [GRCh38]
Chr3:123444930 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.105C>T (p.Phe35=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002954049] Chr3:123793737 [GRCh38]
Chr3:123512584 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1289C>T (p.Thr430Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003082144] Chr3:123733707 [GRCh38]
Chr3:123452554 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.165+2T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002766271] Chr3:123793675 [GRCh38]
Chr3:123512522 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5572G>T (p.Asp1858Tyr) single nucleotide variant Inborn genetic diseases [RCV002697962] Chr3:123614278 [GRCh38]
Chr3:123333125 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1531G>A (p.Glu511Lys) single nucleotide variant Inborn genetic diseases [RCV002766970] Chr3:123726064 [GRCh38]
Chr3:123444911 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4269G>T (p.Thr1423=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002623360] Chr3:123657145 [GRCh38]
Chr3:123375992 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4416-19C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002957509] Chr3:123647446 [GRCh38]
Chr3:123366293 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5218A>G (p.Met1740Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002629937] Chr3:123626838 [GRCh38]
Chr3:123345685 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3565+11C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002600889] Chr3:123692724 [GRCh38]
Chr3:123411571 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1734T>C (p.His578=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002632941] Chr3:123722198 [GRCh38]
Chr3:123441045 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1008G>C (p.Pro336=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002921940] Chr3:123733988 [GRCh38]
Chr3:123452835 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2805A>C (p.Pro935=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002632383] Chr3:123700663 [GRCh38]
Chr3:123419510 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3705A>G (p.Ala1235=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002582046] Chr3:123666345 [GRCh38]
Chr3:123385192 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3565+13C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003027052] Chr3:123692722 [GRCh38]
Chr3:123411569 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5529C>T (p.Phe1843=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002857269] Chr3:123614321 [GRCh38]
Chr3:123333168 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2609G>A (p.Arg870Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002650790]|Familial thoracic aortic aneurysm and aortic dissection [RCV003167593] Chr3:123700859 [GRCh38]
Chr3:123419706 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5040C>T (p.Phe1680=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002629495] Chr3:123629548 [GRCh38]
Chr3:123348395 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3565+20C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002941978] Chr3:123692715 [GRCh38]
Chr3:123411562 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.180A>G (p.Pro60=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002651295] Chr3:123752524 [GRCh38]
Chr3:123471371 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1804+5G>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002966902]|MYLK-related condition [RCV003409998] Chr3:123722123 [GRCh38]
Chr3:123440970 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1507C>G (p.Gln503Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002834207] Chr3:123732905 [GRCh38]
Chr3:123451752 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1349A>G (p.Glu450Gly) single nucleotide variant Inborn genetic diseases [RCV002809176] Chr3:123733063 [GRCh38]
Chr3:123451910 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4071T>C (p.Tyr1357=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002938193] Chr3:123657343 [GRCh38]
Chr3:123376190 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2664C>T (p.Arg888=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003088036] Chr3:123700804 [GRCh38]
Chr3:123419651 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3156T>C (p.Asn1052=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002833773] Chr3:123700312 [GRCh38]
Chr3:123419159 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3877A>G (p.Ser1293Gly) single nucleotide variant Inborn genetic diseases [RCV002878773] Chr3:123664213 [GRCh38]
Chr3:123383060 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1310-2A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002646155] Chr3:123733104 [GRCh38]
Chr3:123451951 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3566-2A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002716552] Chr3:123682312 [GRCh38]
Chr3:123401159 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.2663G>T (p.Arg888Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002715691] Chr3:123700805 [GRCh38]
Chr3:123419652 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.145A>G (p.Thr49Ala) single nucleotide variant Inborn genetic diseases [RCV002921292]|not provided [RCV003313309] Chr3:123793697 [GRCh38]
Chr3:123512544 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2463-12C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003060494]|not provided [RCV003232785] Chr3:123701017 [GRCh38]
Chr3:123419864 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.2464G>C (p.Gly822Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002806002] Chr3:123701004 [GRCh38]
Chr3:123419851 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1309+5G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003091040] Chr3:123733682 [GRCh38]
Chr3:123452529 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1174C>T (p.Gln392Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002770139] Chr3:123733822 [GRCh38]
Chr3:123452669 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.373+19G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002938067] Chr3:123752312 [GRCh38]
Chr3:123471159 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.367G>A (p.Val123Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002580565] Chr3:123752337 [GRCh38]
Chr3:123471184 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3147C>A (p.Pro1049=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002833778] Chr3:123700321 [GRCh38]
Chr3:123419168 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2295T>C (p.Thr765=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002631005] Chr3:123707849 [GRCh38]
Chr3:123426696 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4322-9_4322-8delinsTT indel Aortic aneurysm, familial thoracic 7 [RCV002938982] Chr3:123649072..123649073 [GRCh38]
Chr3:123367919..123367920 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3703+12C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003065074] Chr3:123667125 [GRCh38]
Chr3:123385972 [GRCh37]
Chr3:3q21.1
benign
NM_053025.4(MYLK):c.2462+12C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002938549] Chr3:123701426 [GRCh38]
Chr3:123420273 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.658A>G (p.Ile220Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002899802] Chr3:123737474 [GRCh38]
Chr3:123456321 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5196C>T (p.Ser1732=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002899071] Chr3:123626860 [GRCh38]
Chr3:123345707 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4343A>G (p.Asp1448Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003011083] Chr3:123649043 [GRCh38]
Chr3:123367890 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.374-14T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002937184] Chr3:123740015 [GRCh38]
Chr3:123458862 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2427G>A (p.Leu809=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003062978] Chr3:123701473 [GRCh38]
Chr3:123420320 [GRCh37]
Chr3:3q21.1
likely benign|uncertain significance
NM_053025.4(MYLK):c.3745G>T (p.Val1249Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002714967] Chr3:123666305 [GRCh38]
Chr3:123385152 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2463-3C>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002833143] Chr3:123701008 [GRCh38]
Chr3:123419855 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5623G>A (p.Asp1875Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002675563] Chr3:123614227 [GRCh38]
Chr3:123333074 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2781C>G (p.Ala927=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002857017] Chr3:123700687 [GRCh38]
Chr3:123419534 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1218G>C (p.Glu406Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002899817] Chr3:123733778 [GRCh38]
Chr3:123452625 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4514A>G (p.Asn1505Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003030946] Chr3:123647329 [GRCh38]
Chr3:123366176 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1539C>T (p.Ala513=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003089781] Chr3:123726056 [GRCh38]
Chr3:123444903 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1127C>T (p.Pro376Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003091614] Chr3:123733869 [GRCh38]
Chr3:123452716 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5500+10A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003062795] Chr3:123618629 [GRCh38]
Chr3:123337476 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1488G>A (p.Leu496=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002600481] Chr3:123732924 [GRCh38]
Chr3:123451771 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2416C>T (p.Gln806Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002746531] Chr3:123701484 [GRCh38]
Chr3:123420331 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5368G>A (p.Glu1790Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002943973] Chr3:123620207 [GRCh38]
Chr3:123339054 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.486G>A (p.Lys162=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003068503] Chr3:123738999 [GRCh38]
Chr3:123457846 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2005T>G (p.Phe669Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002943466]|not provided [RCV003130790] Chr3:123708833 [GRCh38]
Chr3:123427680 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2478C>G (p.Ala826=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003066507] Chr3:123700990 [GRCh38]
Chr3:123419837 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2842C>T (p.Pro948Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003066906] Chr3:123700626 [GRCh38]
Chr3:123419473 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1080C>G (p.Gly360=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002633659] Chr3:123733916 [GRCh38]
Chr3:123452763 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.480A>G (p.Pro160=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003052792] Chr3:123739005 [GRCh38]
Chr3:123457852 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2435A>G (p.Gln812Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002943831] Chr3:123701465 [GRCh38]
Chr3:123420312 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.373+18C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002633147] Chr3:123752313 [GRCh38]
Chr3:123471160 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4652T>C (p.Ile1551Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003032066] Chr3:123640472 [GRCh38]
Chr3:123359319 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5056G>A (p.Asp1686Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002603170] Chr3:123629532 [GRCh38]
Chr3:123348379 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3339G>A (p.Lys1113=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002634093] Chr3:123700129 [GRCh38]
Chr3:123418976 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.532G>A (p.Gly178Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002586836] Chr3:123738953 [GRCh38]
Chr3:123457800 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1494T>C (p.Cys498=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002586899] Chr3:123732918 [GRCh38]
Chr3:123451765 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.755-18C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002607128] Chr3:123735434 [GRCh38]
Chr3:123454281 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1652-15G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003071212] Chr3:123722295 [GRCh38]
Chr3:123441142 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4619+17C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002606258] Chr3:123647207 [GRCh38]
Chr3:123366054 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.423-12A>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003071460] Chr3:123739074 [GRCh38]
Chr3:123457921 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4183C>T (p.Leu1395=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002588606] Chr3:123657231 [GRCh38]
Chr3:123376078 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3590A>G (p.Lys1197Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003051184] Chr3:123682286 [GRCh38]
Chr3:123401133 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2573A>G (p.Gln858Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002604518] Chr3:123700895 [GRCh38]
Chr3:123419742 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2669A>G (p.Gln890Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003069755] Chr3:123700799 [GRCh38]
Chr3:123419646 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5370A>G (p.Glu1790=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002585785] Chr3:123618769 [GRCh38]
Chr3:123337616 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4415C>A (p.Ser1472Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003070703] Chr3:123648971 [GRCh38]
Chr3:123367818 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5239-16C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV002610568] Chr3:123620352 [GRCh38]
Chr3:123339199 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5535T>G (p.Asp1845Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003150613] Chr3:123614315 [GRCh38]
Chr3:123333162 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3128C>G (p.Pro1043Arg) single nucleotide variant not provided [RCV003132787] Chr3:123700340 [GRCh38]
Chr3:123419187 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.-185-1995G>A single nucleotide variant not provided [RCV003132788] Chr3:123878612 [GRCh38]
Chr3:123597459 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.587A>C (p.Lys196Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003150614] Chr3:123738898 [GRCh38]
Chr3:123457745 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3888C>T (p.Thr1296=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278405] Chr3:123664202 [GRCh38]
Chr3:123383049 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.972A>G (p.Ser324=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278406] Chr3:123734024 [GRCh38]
Chr3:123452871 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1441G>T (p.Asp481Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278408] Chr3:123732971 [GRCh38]
Chr3:123451818 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4921G>A (p.Ala1641Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003278414] Chr3:123638111 [GRCh38]
Chr3:123356958 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4431G>T (p.Gln1477His) single nucleotide variant not provided [RCV003227146] Chr3:123647412 [GRCh38]
Chr3:123366259 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2262G>C (p.Trp754Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177724] Chr3:123707882 [GRCh38]
Chr3:123426729 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1353C>T (p.Gly451=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177739] Chr3:123733059 [GRCh38]
Chr3:123451906 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1860C>A (p.Pro620=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003200572] Chr3:123709838 [GRCh38]
Chr3:123428685 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3395C>A (p.Thr1132Lys) single nucleotide variant Inborn genetic diseases [RCV003198714] Chr3:123700073 [GRCh38]
Chr3:123418920 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1235C>T (p.Ala412Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177726] Chr3:123733761 [GRCh38]
Chr3:123452608 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.835A>C (p.Ile279Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177730] Chr3:123734161 [GRCh38]
Chr3:123453008 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.420A>G (p.Leu140=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177731] Chr3:123739955 [GRCh38]
Chr3:123458802 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.210G>A (p.Gly70=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003165125] Chr3:123752494 [GRCh38]
Chr3:123471341 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1690G>C (p.Gly564Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177721] Chr3:123722242 [GRCh38]
Chr3:123441089 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4550A>T (p.His1517Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177722] Chr3:123647293 [GRCh38]
Chr3:123366140 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4074T>A (p.Asp1358Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177728] Chr3:123657340 [GRCh38]
Chr3:123376187 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5501G>C (p.Gly1834Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177737] Chr3:123614349 [GRCh38]
Chr3:123333196 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.23C>T (p.Ala8Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177720] Chr3:123793819 [GRCh38]
Chr3:123512666 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.230G>A (p.Gly77Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177732] Chr3:123752474 [GRCh38]
Chr3:123471321 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4095C>G (p.Ser1365=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177735] Chr3:123657319 [GRCh38]
Chr3:123376166 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3559G>A (p.Val1187Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003217469] Chr3:123692741 [GRCh38]
Chr3:123411588 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4457C>T (p.Thr1486Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003224707] Chr3:123647386 [GRCh38]
Chr3:123366233 [GRCh37]
Chr3:3q21.1
uncertain significance
XM_005247492.1:c.2736delG deletion Congenital aneurysm of ascending aorta [RCV003229552]   likely pathogenic
NM_053025.4(MYLK):c.2053G>T (p.Val685Leu) single nucleotide variant Inborn genetic diseases [RCV003261491] Chr3:123708785 [GRCh38]
Chr3:123427632 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3343C>G (p.Leu1115Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003176345] Chr3:123700125 [GRCh38]
Chr3:123418972 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2108A>T (p.Glu703Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177734] Chr3:123708730 [GRCh38]
Chr3:123427577 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1211C>T (p.Pro404Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177736] Chr3:123733785 [GRCh38]
Chr3:123452632 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2697C>A (p.Asp899Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177740] Chr3:123700771 [GRCh38]
Chr3:123419618 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4385A>G (p.Asp1462Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003165124] Chr3:123649001 [GRCh38]
Chr3:123367848 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1005_1007delinsTCT (p.Pro336Leu) indel Familial thoracic aortic aneurysm and aortic dissection [RCV003165127]|not specified [RCV003396931] Chr3:123733989..123733991 [GRCh38]
Chr3:123452836..123452838 [GRCh37]
Chr3:3q21.1
benign|likely benign
NM_053025.4(MYLK):c.4810A>C (p.Ile1604Leu) single nucleotide variant Inborn genetic diseases [RCV003261385] Chr3:123640314 [GRCh38]
Chr3:123359161 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2080A>C (p.Thr694Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003165126] Chr3:123708758 [GRCh38]
Chr3:123427605 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.467G>T (p.Trp156Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003200567] Chr3:123739018 [GRCh38]
Chr3:123457865 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3868G>C (p.Glu1290Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177723] Chr3:123664222 [GRCh38]
Chr3:123383069 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.552C>T (p.Ile184=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177738] Chr3:123738933 [GRCh38]
Chr3:123457780 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1612C>A (p.Arg538=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177725] Chr3:123725983 [GRCh38]
Chr3:123444830 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3221A>T (p.Asp1074Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177727] Chr3:123700247 [GRCh38]
Chr3:123419094 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2984A>T (p.Asn995Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003177729] Chr3:123700484 [GRCh38]
Chr3:123419331 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3677C>T (p.Pro1226Leu) single nucleotide variant not specified [RCV003324255] Chr3:123667163 [GRCh38]
Chr3:123386010 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4612C>A (p.Leu1538Met) single nucleotide variant not provided [RCV003324959] Chr3:123647231 [GRCh38]
Chr3:123366078 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3028A>G (p.Ser1010Gly) single nucleotide variant not provided [RCV003319793] Chr3:123700440 [GRCh38]
Chr3:123419287 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1171A>G (p.Ser391Gly) single nucleotide variant Inborn genetic diseases [RCV003308700] Chr3:123733825 [GRCh38]
Chr3:123452672 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3501A>G (p.Leu1167=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003310457] Chr3:123692799 [GRCh38]
Chr3:123411646 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4476G>A (p.Gly1492=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003310458] Chr3:123647367 [GRCh38]
Chr3:123366214 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.667G>T (p.Val223Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003310460] Chr3:123737465 [GRCh38]
Chr3:123456312 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5399T>G (p.Val1800Gly) single nucleotide variant not specified [RCV003324254] Chr3:123618740 [GRCh38]
Chr3:123337587 [GRCh37]
Chr3:3q21.1
uncertain significance
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2
pathogenic
NM_053025.4(MYLK):c.422+6T>G single nucleotide variant not provided [RCV003327124] Chr3:123739947 [GRCh38]
Chr3:123458794 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1348G>T (p.Glu450Ter) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 [RCV003333850] Chr3:123733064 [GRCh38]
Chr3:123451911 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.536G>C (p.Arg179Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003344128] Chr3:123738949 [GRCh38]
Chr3:123457796 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5100G>A (p.Leu1700=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003344131] Chr3:123629488 [GRCh38]
Chr3:123348335 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1948C>T (p.Pro650Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003344133] Chr3:123708890 [GRCh38]
Chr3:123427737 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3498C>T (p.Gly1166=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003358467] Chr3:123692802 [GRCh38]
Chr3:123411649 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3976A>G (p.Thr1326Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003358466] Chr3:123664114 [GRCh38]
Chr3:123382961 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3642A>G (p.Leu1214=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003344129] Chr3:123682234 [GRCh38]
Chr3:123401081 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.646C>G (p.Gln216Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003358468] Chr3:123737486 [GRCh38]
Chr3:123456333 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1645C>T (p.Leu549=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003344130] Chr3:123725950 [GRCh38]
Chr3:123444797 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4291C>A (p.Pro1431Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003344132] Chr3:123649192 [GRCh38]
Chr3:123368039 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2484C>T (p.Cys828=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003345845] Chr3:123700984 [GRCh38]
Chr3:123419831 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.83C>G (p.Pro28Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003345874] Chr3:123793759 [GRCh38]
Chr3:123512606 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4203G>A (p.Lys1401=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003387086] Chr3:123657211 [GRCh38]
Chr3:123376058 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4621G>A (p.Val1541Met) single nucleotide variant Inborn genetic diseases [RCV003347550] Chr3:123640503 [GRCh38]
Chr3:123359350 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5578G>A (p.Asp1860Asn) single nucleotide variant Inborn genetic diseases [RCV003350585] Chr3:123614272 [GRCh38]
Chr3:123333119 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2744T>A (p.Leu915Gln) single nucleotide variant Inborn genetic diseases [RCV003383878] Chr3:123700724 [GRCh38]
Chr3:123419571 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.423G>A (p.Gly141=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003387088] Chr3:123739062 [GRCh38]
Chr3:123457909 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3986-1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003455787] Chr3:123657429 [GRCh38]
Chr3:123376276 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2097C>T (p.Asn699=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003873633] Chr3:123708741 [GRCh38]
Chr3:123427588 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.467G>A (p.Trp156Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003875419] Chr3:123739018 [GRCh38]
Chr3:123457865 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3565+1G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003873889] Chr3:123692734 [GRCh38]
Chr3:123411581 [GRCh37]
Chr3:3q21.1
likely pathogenic
NM_053025.4(MYLK):c.2482T>C (p.Cys828Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003875515] Chr3:123700986 [GRCh38]
Chr3:123419833 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.590G>A (p.Gly197Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003875516] Chr3:123737542 [GRCh38]
Chr3:123456389 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2222C>T (p.Ser741Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003873732] Chr3:123707922 [GRCh38]
Chr3:123426769 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4657G>A (p.Glu1553Lys) single nucleotide variant MYLK-related condition [RCV003408515] Chr3:123640467 [GRCh38]
Chr3:123359314 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2570G>A (p.Gly857Glu) single nucleotide variant not provided [RCV003441609] Chr3:123700898 [GRCh38]
Chr3:123419745 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4549C>A (p.His1517Asn) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003448616] Chr3:123647294 [GRCh38]
Chr3:123366141 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5619C>T (p.Cys1873=) single nucleotide variant not provided [RCV003427315] Chr3:123614231 [GRCh38]
Chr3:123333078 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.401_413delinsG (p.Pro134_Lys138delinsArg) indel not provided [RCV003441494] Chr3:123739962..123739974 [GRCh38]
Chr3:123458809..123458821 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5460T>G (p.Val1820=) single nucleotide variant not provided [RCV003457387] Chr3:123618679 [GRCh38]
Chr3:123337526 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1866del (p.Ile624fs) deletion MYLK-related condition [RCV003410514] Chr3:123709832 [GRCh38]
Chr3:123428679 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.600A>C (p.Pro200=) single nucleotide variant not provided [RCV003427316] Chr3:123737532 [GRCh38]
Chr3:123456379 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3704-12G>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526367] Chr3:123666358 [GRCh38]
Chr3:123385205 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2640G>A (p.Arg880=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527637] Chr3:123700828 [GRCh38]
Chr3:123419675 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2598del (p.Glu867fs) deletion Aortic aneurysm, familial thoracic 7 [RCV003526482] Chr3:123700870 [GRCh38]
Chr3:123419717 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3653-19G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526590] Chr3:123667206 [GRCh38]
Chr3:123386053 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4415+10G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526720] Chr3:123648961 [GRCh38]
Chr3:123367808 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2926C>T (p.Pro976Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526951] Chr3:123700542 [GRCh38]
Chr3:123419389 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.574G>A (p.Val192Ile) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003880877] Chr3:123738911 [GRCh38]
Chr3:123457758 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2203G>A (p.Gly735Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003877040] Chr3:123707941 [GRCh38]
Chr3:123426788 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2462+8C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526954] Chr3:123701430 [GRCh38]
Chr3:123420277 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5690T>G (p.Leu1897Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525602] Chr3:123614160 [GRCh38]
Chr3:123333007 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3802A>G (p.Thr1268Ala) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527148] Chr3:123666248 [GRCh38]
Chr3:123385095 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4415+12G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527168] Chr3:123648959 [GRCh38]
Chr3:123367806 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3731C>T (p.Pro1244Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525601] Chr3:123666319 [GRCh38]
Chr3:123385166 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.67A>G (p.Arg23Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527033] Chr3:123793775 [GRCh38]
Chr3:123512622 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.391C>T (p.Leu131Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527112] Chr3:123739984 [GRCh38]
Chr3:123458831 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3949G>T (p.Gly1317Cys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527323] Chr3:123664141 [GRCh38]
Chr3:123382988 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1352G>T (p.Gly451Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527350] Chr3:123733060 [GRCh38]
Chr3:123451907 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1025C>T (p.Ser342Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003882336] Chr3:123733971 [GRCh38]
Chr3:123452818 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2620A>G (p.Lys874Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525762] Chr3:123700848 [GRCh38]
Chr3:123419695 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4288+20del deletion Aortic aneurysm, familial thoracic 7 [RCV003527462] Chr3:123657106 [GRCh38]
Chr3:123375953 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5500+18T>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003849350] Chr3:123618621 [GRCh38]
Chr3:123337468 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1517-12T>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525761] Chr3:123726090 [GRCh38]
Chr3:123444937 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.336T>C (p.Ser112=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527215] Chr3:123752368 [GRCh38]
Chr3:123471215 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.117T>G (p.Pro39=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527351] Chr3:123793725 [GRCh38]
Chr3:123512572 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.261G>A (p.Gly87=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527542] Chr3:123752443 [GRCh38]
Chr3:123471290 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2004C>T (p.Asp668=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527552] Chr3:123708834 [GRCh38]
Chr3:123427681 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5095C>T (p.Leu1699=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526302] Chr3:123629493 [GRCh38]
Chr3:123348340 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1773G>C (p.Gln591His) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525447] Chr3:123722159 [GRCh38]
Chr3:123441006 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.315C>G (p.Thr105=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525491] Chr3:123752389 [GRCh38]
Chr3:123471236 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.411C>T (p.Ser137=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526422] Chr3:123739964 [GRCh38]
Chr3:123458811 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3653-14C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003877658] Chr3:123667201 [GRCh38]
Chr3:123386048 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2579G>T (p.Trp860Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003824737] Chr3:123700889 [GRCh38]
Chr3:123419736 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2228C>A (p.Ala743Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525539] Chr3:123707916 [GRCh38]
Chr3:123426763 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1815T>C (p.Ser605=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526448] Chr3:123709883 [GRCh38]
Chr3:123428730 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3123C>T (p.Ala1041=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527047] Chr3:123700345 [GRCh38]
Chr3:123419192 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1855A>G (p.Lys619Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527052] Chr3:123709843 [GRCh38]
Chr3:123428690 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1652-2A>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527290] Chr3:123722282 [GRCh38]
Chr3:123441129 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2881G>A (p.Gly961Arg) single nucleotide variant not provided [RCV003488095] Chr3:123700587 [GRCh38]
Chr3:123419434 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1236A>G (p.Ala412=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525561] Chr3:123733760 [GRCh38]
Chr3:123452607 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.215C>G (p.Pro72Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525600] Chr3:123752489 [GRCh38]
Chr3:123471336 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2628C>G (p.Arg876=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527413] Chr3:123700840 [GRCh38]
Chr3:123419687 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1879C>A (p.Gln627Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527305] Chr3:123709819 [GRCh38]
Chr3:123428666 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5110A>G (p.Met1704Val) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527427] Chr3:123629478 [GRCh38]
Chr3:123348325 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5589G>A (p.Gly1863=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003824821] Chr3:123614261 [GRCh38]
Chr3:123333108 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2390+12T>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525624] Chr3:123707742 [GRCh38]
Chr3:123426589 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.65C>T (p.Ser22Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527297] Chr3:123793777 [GRCh38]
Chr3:123512624 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5239-15G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527026] Chr3:123620351 [GRCh38]
Chr3:123339198 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1651+17C>G single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525707] Chr3:123725927 [GRCh38]
Chr3:123444774 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3149T>A (p.Met1050Lys) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526604] Chr3:123700319 [GRCh38]
Chr3:123419166 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3729C>T (p.Phe1243=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526614] Chr3:123666321 [GRCh38]
Chr3:123385168 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.754G>A (p.Gly252Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527071] Chr3:123737378 [GRCh38]
Chr3:123456225 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3684C>T (p.Pro1228=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003486458] Chr3:123667156 [GRCh38]
Chr3:123386003 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.373+3G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003829079] Chr3:123752328 [GRCh38]
Chr3:123471175 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2352G>A (p.Val784=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527434] Chr3:123707792 [GRCh38]
Chr3:123426639 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2171T>C (p.Ile724Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003879331] Chr3:123707973 [GRCh38]
Chr3:123426820 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3478G>C (p.Ala1160Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527154] Chr3:123692822 [GRCh38]
Chr3:123411669 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.957G>T (p.Glu319Asp) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003829737] Chr3:123734039 [GRCh38]
Chr3:123452886 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.823G>A (p.Val275Met) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003830915] Chr3:123734173 [GRCh38]
Chr3:123453020 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3808A>T (p.Thr1270Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527321] Chr3:123666242 [GRCh38]
Chr3:123385089 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2776C>G (p.Arg926Gly) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527328] Chr3:123700692 [GRCh38]
Chr3:123419539 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1018A>G (p.Lys340Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003830210] Chr3:123733978 [GRCh38]
Chr3:123452825 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2140+12C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526861] Chr3:123708686 [GRCh38]
Chr3:123427533 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3448+17G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525832] Chr3:123700003 [GRCh38]
Chr3:123418850 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2391-4T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525843] Chr3:123701513 [GRCh38]
Chr3:123420360 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.591A>G (p.Gly197=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526751] Chr3:123737541 [GRCh38]
Chr3:123456388 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.382_383delinsCT (p.Ala128Leu) indel Aortic aneurysm, familial thoracic 7 [RCV003527449] Chr3:123739992..123739993 [GRCh38]
Chr3:123458839..123458840 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1357C>T (p.Pro453Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527450] Chr3:123733055 [GRCh38]
Chr3:123451902 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2141-11C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527014] Chr3:123708014 [GRCh38]
Chr3:123426861 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3986-19_3986-17del microsatellite Aortic aneurysm, familial thoracic 7 [RCV003879144] Chr3:123657445..123657447 [GRCh38]
Chr3:123376292..123376294 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2646C>T (p.His882=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527507] Chr3:123700822 [GRCh38]
Chr3:123419669 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.589-7T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527516] Chr3:123737550 [GRCh38]
Chr3:123456397 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.5300T>C (p.Leu1767Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526366] Chr3:123620275 [GRCh38]
Chr3:123339122 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4998T>G (p.Asp1666Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527114] Chr3:123629590 [GRCh38]
Chr3:123348437 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1089C>T (p.Val363=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527570] Chr3:123733907 [GRCh38]
Chr3:123452754 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.713G>A (p.Gly238Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527572] Chr3:123737419 [GRCh38]
Chr3:123456266 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2926C>A (p.Pro976Thr) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003527140] Chr3:123700542 [GRCh38]
Chr3:123419389 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5162A>G (p.Lys1721Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526619] Chr3:123626894 [GRCh38]
Chr3:123345741 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2432T>A (p.Leu811Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525589] Chr3:123701468 [GRCh38]
Chr3:123420315 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3659C>A (p.Ala1220Glu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526913] Chr3:123667181 [GRCh38]
Chr3:123386028 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4971C>A (p.Gly1657=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526272] Chr3:123629617 [GRCh38]
Chr3:123348464 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2187A>G (p.Ser729=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526279] Chr3:123707957 [GRCh38]
Chr3:123426804 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2127_2137del (p.Leu710fs) deletion Aortic aneurysm, familial thoracic 7 [RCV003526953] Chr3:123708701..123708711 [GRCh38]
Chr3:123427548..123427558 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.422+18A>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003828543] Chr3:123739935 [GRCh38]
Chr3:123458782 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4008C>A (p.Gly1336=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003882664] Chr3:123657406 [GRCh38]
Chr3:123376253 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.374-12T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526741] Chr3:123740013 [GRCh38]
Chr3:123458860 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3831+3C>T single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525734] Chr3:123666216 [GRCh38]
Chr3:123385063 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.3302A>G (p.Lys1101Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525745] Chr3:123700166 [GRCh38]
Chr3:123419013 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.2824G>T (p.Glu942Ter) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525750] Chr3:123700644 [GRCh38]
Chr3:123419491 [GRCh37]
Chr3:3q21.1
pathogenic
NM_053025.4(MYLK):c.2194G>C (p.Ala732Pro) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525812] Chr3:123707950 [GRCh38]
Chr3:123426797 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.1142C>G (p.Thr381Ser) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526491] Chr3:123733854 [GRCh38]
Chr3:123452701 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4182G>T (p.Leu1394=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003525461] Chr3:123657232 [GRCh38]
Chr3:123376079 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.664G>A (p.Gly222Arg) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526544] Chr3:123737468 [GRCh38]
Chr3:123456315 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4665T>C (p.Phe1555=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526559] Chr3:123640459 [GRCh38]
Chr3:123359306 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.2444C>T (p.Ser815Phe) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003526796] Chr3:123701456 [GRCh38]
Chr3:123420303 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.12G>A (p.Val4=) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003850341] Chr3:123793830 [GRCh38]
Chr3:123512677 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.3120_3155dup (p.Pro1055_Asp1056insAlaGluThrLeuLysProMetGlyAsnAlaLysPro) duplication Aortic aneurysm, familial thoracic 7 [RCV003849379] Chr3:123700312..123700313 [GRCh38]
Chr3:123419159..123419160 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.5238+19T>C single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003835148] Chr3:123626799 [GRCh38]
Chr3:123345646 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.4961+12G>A single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003850515] Chr3:123638059 [GRCh38]
Chr3:123356906 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1061C>A (p.Pro354Gln) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003833817] Chr3:123733935 [GRCh38]
Chr3:123452782 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.4344T>C (p.Asp1448=) single nucleotide variant not provided [RCV003740586] Chr3:123649042 [GRCh38]
Chr3:123367889 [GRCh37]
Chr3:3q21.1
likely benign
NM_053025.4(MYLK):c.1693G>C (p.Val565Leu) single nucleotide variant Aortic aneurysm, familial thoracic 7 [RCV003834840] Chr3:123722239 [GRCh38]
Chr3:123441086 [GRCh37]
Chr3:3q21.1
uncertain significance
NM_053025.4(MYLK):c.848C>G (p.Ser283Trp) single nucleotide variant not provided [RCV003740513] Chr3:123734148 [GRCh38]
Chr3:123452995 [GRCh37]
Chr3:3q21.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8612
Count of miRNA genes:1485
Interacting mature miRNAs:2068
Transcripts:ENST00000346322, ENST00000354792, ENST00000359169, ENST00000360304, ENST00000360772, ENST00000418370, ENST00000464489, ENST00000475616, ENST00000503644, ENST00000504946, ENST00000506361, ENST00000508240, ENST00000510571, ENST00000510775, ENST00000511058, ENST00000513111, ENST00000514623, ENST00000514895, ENST00000515434, ENST00000578202, ENST00000583087
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.

Markers in Region
D3S3552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,372,768 - 123,372,936UniSTSGRCh37
Build 363124,855,458 - 124,855,626RGDNCBI36
Celera3121,780,224 - 121,780,394RGD
Cytogenetic Map3q21UniSTS
HuRef3120,746,657 - 120,746,827UniSTS
Marshfield Genetic Map3139.12UniSTS
Marshfield Genetic Map3139.12RGD
Genethon Genetic Map3141.1UniSTS
TNG Radiation Hybrid Map370679.0UniSTS
Stanford-G3 RH Map35580.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map31058.5UniSTS
GeneMap99-G3 RH Map36050.0UniSTS
RH103400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,349,485 - 123,349,625UniSTSGRCh37
Build 363124,832,175 - 124,832,315RGDNCBI36
Celera3121,756,422 - 121,756,562RGD
Cytogenetic Map3q21UniSTS
HuRef3120,723,384 - 120,723,524UniSTS
GeneMap99-GB4 RH Map3438.13UniSTS
D3S1668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,542,831 - 123,543,006UniSTSGRCh37
Build 363125,025,521 - 125,025,696RGDNCBI36
Celera3121,950,302 - 121,950,477RGD
Cytogenetic Map3q21UniSTS
SHGC-107378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,530,814 - 123,531,090UniSTSGRCh37
Build 363125,013,504 - 125,013,780RGDNCBI36
Celera3121,938,277 - 121,938,553RGD
Cytogenetic Map3q21UniSTS
HuRef3120,904,635 - 120,904,911UniSTS
TNG Radiation Hybrid Map370630.0UniSTS
RH45477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,331,408 - 123,331,582UniSTSGRCh37
Build 363124,814,098 - 124,814,272RGDNCBI36
Celera3121,738,343 - 121,738,517RGD
Cytogenetic Map3q21UniSTS
HuRef3120,704,356 - 120,704,530UniSTS
GeneMap99-GB4 RH Map3438.65UniSTS
NCBI RH Map31060.8UniSTS
SHGC-77279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,435,687 - 123,435,882UniSTSGRCh37
Build 363124,918,377 - 124,918,572RGDNCBI36
Celera3121,843,185 - 121,843,380RGD
Cytogenetic Map3q21UniSTS
HuRef3120,809,561 - 120,809,756UniSTS
TNG Radiation Hybrid Map370874.0UniSTS
GeneMap99-GB4 RH Map3438.4UniSTS
NCBI RH Map31060.8UniSTS
SHGC-77271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,335,262 - 123,335,411UniSTSGRCh37
Build 363124,817,952 - 124,818,101RGDNCBI36
Celera3121,742,198 - 121,742,347RGD
Cytogenetic Map3q21UniSTS
HuRef3120,709,162 - 120,709,311UniSTS
TNG Radiation Hybrid Map370708.0UniSTS
GeneMap99-GB4 RH Map3432.25UniSTS
Whitehead-RH Map3538.3UniSTS
NCBI RH Map31060.8UniSTS
A006U08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,331,271 - 123,331,416UniSTSGRCh37
Build 363124,813,961 - 124,814,106RGDNCBI36
Celera3121,738,206 - 121,738,351RGD
Cytogenetic Map3q21UniSTS
HuRef3120,704,219 - 120,704,364UniSTS
GeneMap99-GB4 RH Map3437.51UniSTS
NCBI RH Map31060.8UniSTS
RH77851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,332,980 - 123,333,129UniSTSGRCh37
Build 363124,815,670 - 124,815,819RGDNCBI36
Celera3121,739,915 - 121,740,064RGD
Cytogenetic Map3q21UniSTS
HuRef3120,705,927 - 120,706,076UniSTS
GeneMap99-GB4 RH Map3437.51UniSTS
NCBI RH Map31060.8UniSTS
SHGC-77269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,376,029 - 123,376,149UniSTSGRCh37
Build 363124,858,719 - 124,858,839RGDNCBI36
Celera3121,783,487 - 121,783,607RGD
Cytogenetic Map3q21UniSTS
HuRef3120,749,920 - 120,750,040UniSTS
TNG Radiation Hybrid Map370683.0UniSTS
GeneMap99-GB4 RH Map3432.0UniSTS
NCBI RH Map31057.4UniSTS
A004V23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,331,402 - 123,331,535UniSTSGRCh37
Build 363124,814,092 - 124,814,225RGDNCBI36
Celera3121,738,337 - 121,738,470RGD
Cytogenetic Map3q21UniSTS
HuRef3120,704,350 - 120,704,483UniSTS
GeneMap99-GB4 RH Map3437.61UniSTS
Whitehead-RH Map3539.7UniSTS
NCBI RH Map31069.8UniSTS
RH36624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,331,210 - 123,331,378UniSTSGRCh37
Build 363124,813,900 - 124,814,068RGDNCBI36
Celera3121,738,145 - 121,738,313RGD
Cytogenetic Map3q21UniSTS
HuRef3120,704,158 - 120,704,326UniSTS
GeneMap99-GB4 RH Map3438.65UniSTS
NCBI RH Map31060.8UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
GDB:335751  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3q22.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map9q22.32UniSTS
GDB:631802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map3q21-q22UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map20p11.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map2p24.1UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
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Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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
High 3 1 2
Medium 2112 1452 826 298 468 160 2652 934 1270 243 1247 1261 145 1141 1691 2
Low 266 1145 892 324 623 303 1700 1222 2439 172 199 305 27 1 63 1095 2
Below cutoff 49 385 5 830 1 4 37 12 3 7 42 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_053025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_053026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_053027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_053028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_053031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_053032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF096773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF096774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF096775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF172084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY339601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY424269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY424270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM723621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ006428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU678390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA391484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA391924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA432076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA853780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB016380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ090939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ642691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ642692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ981352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U48959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X85337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X90870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000346322   ⟹   ENSP00000320622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,043 - 123,831,663 (-)Ensembl
RefSeq Acc Id: ENST00000354792   ⟹   ENSP00000346846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,298 - 123,876,618 (-)Ensembl
RefSeq Acc Id: ENST00000359169   ⟹   ENSP00000352088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,298 - 123,876,618 (-)Ensembl
RefSeq Acc Id: ENST00000360304   ⟹   ENSP00000353452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,610,049 - 123,884,332 (-)Ensembl
RefSeq Acc Id: ENST00000360772   ⟹   ENSP00000354004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,610,049 - 123,884,331 (-)Ensembl
RefSeq Acc Id: ENST00000418370   ⟹   ENSP00000428967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,310 - 123,625,316 (-)Ensembl
RefSeq Acc Id: ENST00000464489   ⟹   ENSP00000417798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,029 - 123,884,308 (-)Ensembl
RefSeq Acc Id: ENST00000475616   ⟹   ENSP00000418335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,105 - 123,793,841 (-)Ensembl
RefSeq Acc Id: ENST00000503644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,692,735 - 123,693,615 (-)Ensembl
RefSeq Acc Id: ENST00000504946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,681,030 - 123,701,509 (-)Ensembl
RefSeq Acc Id: ENST00000506361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,737,241 - 123,800,188 (-)Ensembl
RefSeq Acc Id: ENST00000508240   ⟹   ENSP00000422984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,045 - 123,692,401 (-)Ensembl
RefSeq Acc Id: ENST00000510571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,737,378 - 123,793,887 (-)Ensembl
RefSeq Acc Id: ENST00000510775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,666,243 - 123,698,974 (-)Ensembl
RefSeq Acc Id: ENST00000511058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,664,105 - 123,689,066 (-)Ensembl
RefSeq Acc Id: ENST00000513111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,647,224 - 123,657,718 (-)Ensembl
RefSeq Acc Id: ENST00000514623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,709,158 - 123,735,770 (-)Ensembl
RefSeq Acc Id: ENST00000514895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,640,379 - 123,649,064 (-)Ensembl
RefSeq Acc Id: ENST00000515434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,616,352 - 123,624,078 (-)Ensembl
RefSeq Acc Id: ENST00000578202   ⟹   ENSP00000463691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,613,073 - 123,620,391 (-)Ensembl
RefSeq Acc Id: ENST00000583087   ⟹   ENSP00000462118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,035 - 123,620,626 (-)Ensembl
RefSeq Acc Id: ENST00000684879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,619,769 - 123,701,099 (-)Ensembl
RefSeq Acc Id: ENST00000684882   ⟹   ENSP00000510459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,277 - 123,620,536 (-)Ensembl
RefSeq Acc Id: ENST00000685021   ⟹   ENSP00000508447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,303 - 123,701,198 (-)Ensembl
RefSeq Acc Id: ENST00000685170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,029 - 123,639,129 (-)Ensembl
RefSeq Acc Id: ENST00000685259   ⟹   ENSP00000510445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,057 - 123,701,005 (-)Ensembl
RefSeq Acc Id: ENST00000685665   ⟹   ENSP00000509561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,616,475 - 123,620,520 (-)Ensembl
RefSeq Acc Id: ENST00000685744   ⟹   ENSP00000510047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,296 - 123,620,533 (-)Ensembl
RefSeq Acc Id: ENST00000685907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,057 - 123,701,680 (-)Ensembl
RefSeq Acc Id: ENST00000685953   ⟹   ENSP00000510593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,690 - 123,692,376 (-)Ensembl
RefSeq Acc Id: ENST00000686039   ⟹   ENSP00000510390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,610,049 - 123,701,005 (-)Ensembl
RefSeq Acc Id: ENST00000686245   ⟹   ENSP00000509313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,062 - 123,701,074 (-)Ensembl
RefSeq Acc Id: ENST00000686281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,029 - 123,639,017 (-)Ensembl
RefSeq Acc Id: ENST00000686388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,664,105 - 123,667,805 (-)Ensembl
RefSeq Acc Id: ENST00000686406   ⟹   ENSP00000509044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,067 - 123,793,844 (-)Ensembl
RefSeq Acc Id: ENST00000686458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,047 - 123,666,875 (-)Ensembl
RefSeq Acc Id: ENST00000686761   ⟹   ENSP00000508758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,047 - 123,800,188 (-)Ensembl
RefSeq Acc Id: ENST00000686822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,620,286 - 123,758,389 (-)Ensembl
RefSeq Acc Id: ENST00000687375   ⟹   ENSP00000509867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,096 - 123,620,578 (-)Ensembl
RefSeq Acc Id: ENST00000687434   ⟹   ENSP00000509751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,321 - 123,692,379 (-)Ensembl
RefSeq Acc Id: ENST00000687709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,065 - 123,700,732 (-)Ensembl
RefSeq Acc Id: ENST00000687848   ⟹   ENSP00000508761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,086 - 123,831,584 (-)Ensembl
RefSeq Acc Id: ENST00000688024   ⟹   ENSP00000509803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,324 - 123,701,018 (-)Ensembl
RefSeq Acc Id: ENST00000688223   ⟹   ENSP00000508935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,314 - 123,701,204 (-)Ensembl
RefSeq Acc Id: ENST00000689227   ⟹   ENSP00000508857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,682,224 - 123,701,005 (-)Ensembl
RefSeq Acc Id: ENST00000689446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,029 - 123,638,930 (-)Ensembl
RefSeq Acc Id: ENST00000689868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,322 - 123,701,627 (-)Ensembl
RefSeq Acc Id: ENST00000689918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,086 - 123,657,557 (-)Ensembl
RefSeq Acc Id: ENST00000689957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,657,219 - 123,664,638 (-)Ensembl
RefSeq Acc Id: ENST00000690086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,255 - 123,658,262 (-)Ensembl
RefSeq Acc Id: ENST00000690167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,036 - 123,701,570 (-)Ensembl
RefSeq Acc Id: ENST00000690176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,657,126 - 123,664,651 (-)Ensembl
RefSeq Acc Id: ENST00000690457   ⟹   ENSP00000508777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,055 - 123,831,641 (-)Ensembl
RefSeq Acc Id: ENST00000690534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,225 - 123,682,396 (-)Ensembl
RefSeq Acc Id: ENST00000690656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,004 - 123,618,843 (-)Ensembl
RefSeq Acc Id: ENST00000691367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,614,001 - 123,619,175 (-)Ensembl
RefSeq Acc Id: ENST00000691933   ⟹   ENSP00000509865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,545 - 123,701,005 (-)Ensembl
RefSeq Acc Id: ENST00000692352   ⟹   ENSP00000510737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,645,050 - 123,701,005 (-)Ensembl
RefSeq Acc Id: ENST00000692356   ⟹   ENSP00000509805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,613,485 - 123,620,517 (-)Ensembl
RefSeq Acc Id: ENST00000692507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,298 - 123,615,653 (-)Ensembl
RefSeq Acc Id: ENST00000692811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,626,818 - 123,639,015 (-)Ensembl
RefSeq Acc Id: ENST00000693689   ⟹   ENSP00000510503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,612,539 - 123,884,314 (-)Ensembl
RefSeq Acc Id: NM_001321309   ⟹   NP_001308238
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,884,332 (-)NCBI
CHM1_13123,294,136 - 123,566,156 (-)NCBI
T2T-CHM13v2.03126,330,173 - 126,610,461 (-)NCBI
Sequence:
RefSeq Acc Id: NM_053025   ⟹   NP_444253
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,884,332 (-)NCBI
GRCh373123,331,143 - 123,603,149 (-)ENTREZGENE
Build 363124,813,833 - 125,085,839 (-)NCBI Archive
HuRef3120,704,092 - 120,976,941 (-)ENTREZGENE
CHM1_13123,294,136 - 123,566,156 (-)NCBI
T2T-CHM13v2.03126,330,173 - 126,610,461 (-)NCBI
Sequence:
RefSeq Acc Id: NM_053026   ⟹   NP_444254
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,884,332 (-)NCBI
GRCh373123,331,143 - 123,603,149 (-)ENTREZGENE
Build 363124,813,833 - 125,085,839 (-)NCBI Archive
HuRef3120,704,092 - 120,976,941 (-)ENTREZGENE
CHM1_13123,294,136 - 123,566,156 (-)NCBI
T2T-CHM13v2.03126,330,173 - 126,610,461 (-)NCBI
Sequence:
RefSeq Acc Id: NM_053027   ⟹   NP_444255
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,884,332 (-)NCBI
GRCh373123,331,143 - 123,603,149 (-)ENTREZGENE
Build 363124,813,833 - 125,085,839 (-)NCBI Archive
HuRef3120,704,092 - 120,976,941 (-)ENTREZGENE
CHM1_13123,294,136 - 123,566,156 (-)NCBI
T2T-CHM13v2.03126,330,173 - 126,610,461 (-)NCBI
Sequence:
RefSeq Acc Id: NM_053028   ⟹   NP_444256
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,884,332 (-)NCBI
GRCh373123,331,143 - 123,603,149 (-)ENTREZGENE
Build 363124,813,833 - 125,085,839 (-)NCBI Archive
HuRef3120,704,092 - 120,976,941 (-)ENTREZGENE
CHM1_13123,294,136 - 123,566,156 (-)NCBI
T2T-CHM13v2.03126,330,173 - 126,610,461 (-)NCBI
Sequence:
RefSeq Acc Id: NM_053031   ⟹   NP_444259
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,620,548 (-)NCBI
GRCh373123,331,143 - 123,603,149 (-)ENTREZGENE
Build 363124,813,833 - 124,822,220 (-)NCBI Archive
HuRef3120,704,092 - 120,976,941 (-)ENTREZGENE
CHM1_13123,294,136 - 123,302,525 (-)NCBI
T2T-CHM13v2.03126,330,173 - 126,340,674 (-)NCBI
Sequence:
RefSeq Acc Id: NM_053032   ⟹   NP_444260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,620,548 (-)NCBI
GRCh373123,331,143 - 123,603,149 (-)ENTREZGENE
Build 363124,813,833 - 124,822,220 (-)NCBI Archive
HuRef3120,704,092 - 120,976,941 (-)ENTREZGENE
CHM1_13123,294,136 - 123,302,525 (-)NCBI
T2T-CHM13v2.03126,330,173 - 126,340,674 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512860   ⟹   XP_011511162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,831,641 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512861   ⟹   XP_011511163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,831,641 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006469   ⟹   XP_016861958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,831,641 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006470   ⟹   XP_016861959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,692,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006471   ⟹   XP_016861960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,692,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006472   ⟹   XP_016861961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,620,548 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006473   ⟹   XP_016861962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,620,548 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453532   ⟹   XP_024309300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,884,332 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453534   ⟹   XP_024309302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,831,641 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453537   ⟹   XP_024309305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,800,061 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448182   ⟹   XP_047304138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,831,641 (-)NCBI
RefSeq Acc Id: XM_047448183   ⟹   XP_047304139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,884,332 (-)NCBI
RefSeq Acc Id: XM_047448184   ⟹   XP_047304140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,884,332 (-)NCBI
RefSeq Acc Id: XM_047448185   ⟹   XP_047304141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,800,061 (-)NCBI
RefSeq Acc Id: XM_047448186   ⟹   XP_047304142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,831,641 (-)NCBI
RefSeq Acc Id: XM_047448187   ⟹   XP_047304143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,884,332 (-)NCBI
RefSeq Acc Id: XM_047448188   ⟹   XP_047304144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,610,049 - 123,692,381 (-)NCBI
RefSeq Acc Id: XM_054346612   ⟹   XP_054202587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,556,005 (-)NCBI
RefSeq Acc Id: XM_054346613   ⟹   XP_054202588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,555,982 (-)NCBI
RefSeq Acc Id: XM_054346614   ⟹   XP_054202589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,556,006 (-)NCBI
RefSeq Acc Id: XM_054346615   ⟹   XP_054202590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,555,980 (-)NCBI
RefSeq Acc Id: XM_054346616   ⟹   XP_054202591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,556,009 (-)NCBI
RefSeq Acc Id: XM_054346617   ⟹   XP_054202592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,556,003 (-)NCBI
RefSeq Acc Id: XM_054346618   ⟹   XP_054202593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,555,980 (-)NCBI
RefSeq Acc Id: XM_054346619   ⟹   XP_054202594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,610,461 (-)NCBI
RefSeq Acc Id: XM_054346620   ⟹   XP_054202595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,552,825 (-)NCBI
RefSeq Acc Id: XM_054346621   ⟹   XP_054202596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,610,461 (-)NCBI
RefSeq Acc Id: XM_054346622   ⟹   XP_054202597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,552,893 (-)NCBI
RefSeq Acc Id: XM_054346623   ⟹   XP_054202598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,520,269 (-)NCBI
RefSeq Acc Id: XM_054346624   ⟹   XP_054202599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,556,004 (-)NCBI
RefSeq Acc Id: XM_054346625   ⟹   XP_054202600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,610,461 (-)NCBI
RefSeq Acc Id: XM_054346626   ⟹   XP_054202601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,412,526 (-)NCBI
RefSeq Acc Id: XM_054346627   ⟹   XP_054202602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,412,526 (-)NCBI
RefSeq Acc Id: XM_054346628   ⟹   XP_054202603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,412,580 (-)NCBI
RefSeq Acc Id: XM_054346629   ⟹   XP_054202604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,341,216 (-)NCBI
RefSeq Acc Id: XM_054346630   ⟹   XP_054202605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,330,173 - 126,341,216 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001308238 (Get FASTA)   NCBI Sequence Viewer  
  NP_444253 (Get FASTA)   NCBI Sequence Viewer  
  NP_444254 (Get FASTA)   NCBI Sequence Viewer  
  NP_444255 (Get FASTA)   NCBI Sequence Viewer  
  NP_444256 (Get FASTA)   NCBI Sequence Viewer  
  NP_444259 (Get FASTA)   NCBI Sequence Viewer  
  NP_444260 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511162 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511163 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861958 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861959 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861960 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861961 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861962 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309300 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309302 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309305 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304138 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304139 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304140 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304141 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304142 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304143 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304144 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202587 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202588 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202589 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202590 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202591 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202592 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202593 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202594 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202595 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202596 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202597 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202598 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202599 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202600 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202601 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202602 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202603 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202604 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202605 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC18423 (Get FASTA)   NCBI Sequence Viewer  
  AAD15921 (Get FASTA)   NCBI Sequence Viewer  
  AAD15922 (Get FASTA)   NCBI Sequence Viewer  
  AAD15923 (Get FASTA)   NCBI Sequence Viewer  
  AAD15924 (Get FASTA)   NCBI Sequence Viewer  
  AAD51380 (Get FASTA)   NCBI Sequence Viewer  
  AAD54017 (Get FASTA)   NCBI Sequence Viewer  
  AAD54018 (Get FASTA)   NCBI Sequence Viewer  
  AAD54019 (Get FASTA)   NCBI Sequence Viewer  
  AAH17811 (Get FASTA)   NCBI Sequence Viewer  
  AAH64420 (Get FASTA)   NCBI Sequence Viewer  
  AAI00762 (Get FASTA)   NCBI Sequence Viewer  
  AAI00763 (Get FASTA)   NCBI Sequence Viewer  
  AAI00764 (Get FASTA)   NCBI Sequence Viewer  
  AAI07784 (Get FASTA)   NCBI Sequence Viewer  
  AAI13457 (Get FASTA)   NCBI Sequence Viewer  
  AAI13459 (Get FASTA)   NCBI Sequence Viewer  
  AAQ02673 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13607 (Get FASTA)   NCBI Sequence Viewer  
  AAR29061 (Get FASTA)   NCBI Sequence Viewer  
  AAR29062 (Get FASTA)   NCBI Sequence Viewer  
  ABG25912 (Get FASTA)   NCBI Sequence Viewer  
  ABG25913 (Get FASTA)   NCBI Sequence Viewer  
  BAB21504 (Get FASTA)   NCBI Sequence Viewer  
  BAG37033 (Get FASTA)   NCBI Sequence Viewer  
  BAG37052 (Get FASTA)   NCBI Sequence Viewer  
  BAG62305 (Get FASTA)   NCBI Sequence Viewer  
  CAA59685 (Get FASTA)   NCBI Sequence Viewer  
  CAA62378 (Get FASTA)   NCBI Sequence Viewer  
  CAA70723 (Get FASTA)   NCBI Sequence Viewer  
  CAH18217 (Get FASTA)   NCBI Sequence Viewer  
  EAW79435 (Get FASTA)   NCBI Sequence Viewer  
  EAW79436 (Get FASTA)   NCBI Sequence Viewer  
  EAW79437 (Get FASTA)   NCBI Sequence Viewer  
  EAW79438 (Get FASTA)   NCBI Sequence Viewer  
  EAW79439 (Get FASTA)   NCBI Sequence Viewer  
  EAW79440 (Get FASTA)   NCBI Sequence Viewer  
  EAW79441 (Get FASTA)   NCBI Sequence Viewer  
  EAW79442 (Get FASTA)   NCBI Sequence Viewer  
  EAW79443 (Get FASTA)   NCBI Sequence Viewer  
  EAW79444 (Get FASTA)   NCBI Sequence Viewer  
  EAW79445 (Get FASTA)   NCBI Sequence Viewer  
  EAW79446 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000320622
  ENSP00000320622.6
  ENSP00000353452
  ENSP00000353452.3
  ENSP00000354004
  ENSP00000354004.3
  ENSP00000417798.1
  ENSP00000422984
  ENSP00000422984.2
  ENSP00000428967
  ENSP00000428967.1
  ENSP00000462118
  ENSP00000462118.1
  ENSP00000463691.2
  ENSP00000508447.1
  ENSP00000508758
  ENSP00000508758.1
  ENSP00000508761
  ENSP00000508761.1
  ENSP00000508777
  ENSP00000508777.1
  ENSP00000508857.1
  ENSP00000508935.1
  ENSP00000509044.1
  ENSP00000509313.1
  ENSP00000509521.1
  ENSP00000509561.1
  ENSP00000509751.1
  ENSP00000509803.1
  ENSP00000509805.1
  ENSP00000509865.1
  ENSP00000509867
  ENSP00000509867.1
  ENSP00000509883.1
  ENSP00000510047
  ENSP00000510047.1
  ENSP00000510315.1
  ENSP00000510390.1
  ENSP00000510445.1
  ENSP00000510459.1
  ENSP00000510503
  ENSP00000510503.1
  ENSP00000510593
  ENSP00000510593.1
  ENSP00000510737.1
GenBank Protein Q15746 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_444256   ⟸   NM_053028
- Peptide Label: isoform 3B
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_444254   ⟸   NM_053026
- Peptide Label: isoform 2
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_444255   ⟸   NM_053027
- Peptide Label: isoform 3A
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_444253   ⟸   NM_053025
- Peptide Label: isoform 1
- UniProtKB: Q9UBY6 (UniProtKB/Swiss-Prot),   Q9UBG5 (UniProtKB/Swiss-Prot),   Q9C0L5 (UniProtKB/Swiss-Prot),   Q7Z4J0 (UniProtKB/Swiss-Prot),   Q6P2N0 (UniProtKB/Swiss-Prot),   Q5MYA0 (UniProtKB/Swiss-Prot),   Q5MY99 (UniProtKB/Swiss-Prot),   Q3ZCP9 (UniProtKB/Swiss-Prot),   Q17S15 (UniProtKB/Swiss-Prot),   Q16794 (UniProtKB/Swiss-Prot),   Q14844 (UniProtKB/Swiss-Prot),   O95799 (UniProtKB/Swiss-Prot),   O95798 (UniProtKB/Swiss-Prot),   O95797 (UniProtKB/Swiss-Prot),   O95796 (UniProtKB/Swiss-Prot),   D3DN97 (UniProtKB/Swiss-Prot),   B4DUE3 (UniProtKB/Swiss-Prot),   Q9UIT9 (UniProtKB/Swiss-Prot),   Q15746 (UniProtKB/Swiss-Prot),   A0A8I5QKL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_444259   ⟸   NM_053031
- Peptide Label: isoform 7
- UniProtKB: Q05B97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_444260   ⟸   NM_053032
- Peptide Label: isoform 8
- UniProtKB: Q05B97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511163   ⟸   XM_011512861
- Peptide Label: isoform X2
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511162   ⟸   XM_011512860
- Peptide Label: isoform X1
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308238   ⟸   NM_001321309
- Peptide Label: isoform 9
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861961   ⟸   XM_017006472
- Peptide Label: isoform X12
- UniProtKB: Q05B97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861962   ⟸   XM_017006473
- Peptide Label: isoform X13
- UniProtKB: Q05B97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861958   ⟸   XM_017006469
- Peptide Label: isoform X5
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861960   ⟸   XM_017006471
- Peptide Label: isoform X9
- UniProtKB: Q15746 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016861959   ⟸   XM_017006470
- Peptide Label: isoform X10
- UniProtKB: A0A8I5KTQ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309302   ⟸   XM_024453534
- Peptide Label: isoform X3
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309300   ⟸   XM_024453532
- Peptide Label: isoform X6
- UniProtKB: A0A8I5KU53 (UniProtKB/TrEMBL),   A0A8I5QKL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309305   ⟸   XM_024453537
- Peptide Label: isoform X7
- UniProtKB: Q9UBY6 (UniProtKB/Swiss-Prot),   Q9UBG5 (UniProtKB/Swiss-Prot),   Q9C0L5 (UniProtKB/Swiss-Prot),   Q7Z4J0 (UniProtKB/Swiss-Prot),   Q6P2N0 (UniProtKB/Swiss-Prot),   Q5MYA0 (UniProtKB/Swiss-Prot),   Q5MY99 (UniProtKB/Swiss-Prot),   Q3ZCP9 (UniProtKB/Swiss-Prot),   Q17S15 (UniProtKB/Swiss-Prot),   Q16794 (UniProtKB/Swiss-Prot),   Q15746 (UniProtKB/Swiss-Prot),   Q14844 (UniProtKB/Swiss-Prot),   O95799 (UniProtKB/Swiss-Prot),   O95798 (UniProtKB/Swiss-Prot),   O95797 (UniProtKB/Swiss-Prot),   O95796 (UniProtKB/Swiss-Prot),   D3DN97 (UniProtKB/Swiss-Prot),   B4DUE3 (UniProtKB/Swiss-Prot),   Q9UIT9 (UniProtKB/Swiss-Prot),   A0A8I5QKL9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000352088   ⟸   ENST00000359169
RefSeq Acc Id: ENSP00000417798   ⟸   ENST00000464489
RefSeq Acc Id: ENSP00000320622   ⟸   ENST00000346322
RefSeq Acc Id: ENSP00000462118   ⟸   ENST00000583087
RefSeq Acc Id: ENSP00000353452   ⟸   ENST00000360304
RefSeq Acc Id: ENSP00000354004   ⟸   ENST00000360772
RefSeq Acc Id: ENSP00000422984   ⟸   ENST00000508240
RefSeq Acc Id: ENSP00000428967   ⟸   ENST00000418370
RefSeq Acc Id: ENSP00000463691   ⟸   ENST00000578202
RefSeq Acc Id: ENSP00000346846   ⟸   ENST00000354792
RefSeq Acc Id: ENSP00000418335   ⟸   ENST00000475616
RefSeq Acc Id: ENSP00000509561   ⟸   ENST00000685665
RefSeq Acc Id: ENSP00000510593   ⟸   ENST00000685953
RefSeq Acc Id: ENSP00000509805   ⟸   ENST00000692356
RefSeq Acc Id: ENSP00000509867   ⟸   ENST00000687375
RefSeq Acc Id: ENSP00000508761   ⟸   ENST00000687848
RefSeq Acc Id: ENSP00000509865   ⟸   ENST00000691933
RefSeq Acc Id: ENSP00000510047   ⟸   ENST00000685744
RefSeq Acc Id: ENSP00000510390   ⟸   ENST00000686039
RefSeq Acc Id: ENSP00000509044   ⟸   ENST00000686406
RefSeq Acc Id: ENSP00000509313   ⟸   ENST00000686245
RefSeq Acc Id: ENSP00000510503   ⟸   ENST00000693689
RefSeq Acc Id: ENSP00000510445   ⟸   ENST00000685259
RefSeq Acc Id: ENSP00000510737   ⟸   ENST00000692352
RefSeq Acc Id: ENSP00000508447   ⟸   ENST00000685021
RefSeq Acc Id: ENSP00000508857   ⟸   ENST00000689227
RefSeq Acc Id: ENSP00000510459   ⟸   ENST00000684882
RefSeq Acc Id: ENSP00000509751   ⟸   ENST00000687434
RefSeq Acc Id: ENSP00000508758   ⟸   ENST00000686761
RefSeq Acc Id: ENSP00000508935   ⟸   ENST00000688223
RefSeq Acc Id: ENSP00000509803   ⟸   ENST00000688024
RefSeq Acc Id: ENSP00000508777   ⟸   ENST00000690457
RefSeq Acc Id: XP_047304140   ⟸   XM_047448184
- Peptide Label: isoform X7
- UniProtKB: Q9UBY6 (UniProtKB/Swiss-Prot),   Q9UBG5 (UniProtKB/Swiss-Prot),   Q9C0L5 (UniProtKB/Swiss-Prot),   Q7Z4J0 (UniProtKB/Swiss-Prot),   Q6P2N0 (UniProtKB/Swiss-Prot),   Q5MYA0 (UniProtKB/Swiss-Prot),   Q5MY99 (UniProtKB/Swiss-Prot),   Q3ZCP9 (UniProtKB/Swiss-Prot),   Q17S15 (UniProtKB/Swiss-Prot),   Q16794 (UniProtKB/Swiss-Prot),   Q15746 (UniProtKB/Swiss-Prot),   Q14844 (UniProtKB/Swiss-Prot),   O95799 (UniProtKB/Swiss-Prot),   O95798 (UniProtKB/Swiss-Prot),   O95797 (UniProtKB/Swiss-Prot),   O95796 (UniProtKB/Swiss-Prot),   D3DN97 (UniProtKB/Swiss-Prot),   B4DUE3 (UniProtKB/Swiss-Prot),   Q9UIT9 (UniProtKB/Swiss-Prot),   A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304139   ⟸   XM_047448183
- Peptide Label: isoform X6
- UniProtKB: A0A8I5KU53 (UniProtKB/TrEMBL),   A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304143   ⟸   XM_047448187
- Peptide Label: isoform X6
- UniProtKB: A0A8I5KU53 (UniProtKB/TrEMBL),   A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304142   ⟸   XM_047448186
- Peptide Label: isoform X8
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304138   ⟸   XM_047448182
- Peptide Label: isoform X4
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304141   ⟸   XM_047448185
- Peptide Label: isoform X7
- UniProtKB: Q9UBY6 (UniProtKB/Swiss-Prot),   Q9UBG5 (UniProtKB/Swiss-Prot),   Q9C0L5 (UniProtKB/Swiss-Prot),   Q7Z4J0 (UniProtKB/Swiss-Prot),   Q6P2N0 (UniProtKB/Swiss-Prot),   Q5MYA0 (UniProtKB/Swiss-Prot),   Q5MY99 (UniProtKB/Swiss-Prot),   Q3ZCP9 (UniProtKB/Swiss-Prot),   Q17S15 (UniProtKB/Swiss-Prot),   Q16794 (UniProtKB/Swiss-Prot),   Q15746 (UniProtKB/Swiss-Prot),   Q14844 (UniProtKB/Swiss-Prot),   O95799 (UniProtKB/Swiss-Prot),   O95798 (UniProtKB/Swiss-Prot),   O95797 (UniProtKB/Swiss-Prot),   O95796 (UniProtKB/Swiss-Prot),   D3DN97 (UniProtKB/Swiss-Prot),   B4DUE3 (UniProtKB/Swiss-Prot),   Q9UIT9 (UniProtKB/Swiss-Prot),   A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304144   ⟸   XM_047448188
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054202596   ⟸   XM_054346621
- Peptide Label: isoform X7
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202594   ⟸   XM_054346619
- Peptide Label: isoform X6
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202600   ⟸   XM_054346625
- Peptide Label: isoform X6
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202591   ⟸   XM_054346616
- Peptide Label: isoform X4
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202589   ⟸   XM_054346614
- Peptide Label: isoform X2
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202587   ⟸   XM_054346612
- Peptide Label: isoform X1
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202599   ⟸   XM_054346624
- Peptide Label: isoform X8
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202592   ⟸   XM_054346617
- Peptide Label: isoform X5
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202588   ⟸   XM_054346613
- Peptide Label: isoform X7
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202593   ⟸   XM_054346618
- Peptide Label: isoform X14
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202590   ⟸   XM_054346615
- Peptide Label: isoform X3
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202597   ⟸   XM_054346622
- Peptide Label: isoform X7
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202595   ⟸   XM_054346620
- Peptide Label: isoform X6
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202598   ⟸   XM_054346623
- Peptide Label: isoform X7
- UniProtKB: A0A8I5QKL9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202603   ⟸   XM_054346628
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054202602   ⟸   XM_054346627
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054202601   ⟸   XM_054346626
- Peptide Label: isoform X10
- UniProtKB: A0A8I5KTQ1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202605   ⟸   XM_054346630
- Peptide Label: isoform X13
- UniProtKB: Q05B97 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202604   ⟸   XM_054346629
- Peptide Label: isoform X12
- UniProtKB: Q05B97 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15746-F1-model_v2 AlphaFold Q15746 1-1914 view protein structure

Promoters
RGD ID:6865474
Promoter ID:EPDNEW_H5902
Type:initiation region
Name:MYLK_1
Description:myosin light chain kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5903  EPDNEW_H5904  EPDNEW_H5905  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,620,514 - 123,620,574EPDNEW
RGD ID:6865476
Promoter ID:EPDNEW_H5903
Type:initiation region
Name:MYLK_4
Description:myosin light chain kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5902  EPDNEW_H5904  EPDNEW_H5905  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,793,848 - 123,793,908EPDNEW
RGD ID:6865478
Promoter ID:EPDNEW_H5904
Type:initiation region
Name:MYLK_3
Description:myosin light chain kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5902  EPDNEW_H5903  EPDNEW_H5905  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,800,087 - 123,800,147EPDNEW
RGD ID:6865480
Promoter ID:EPDNEW_H5905
Type:initiation region
Name:MYLK_2
Description:myosin light chain kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5902  EPDNEW_H5903  EPDNEW_H5904  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,884,307 - 123,884,367EPDNEW
RGD ID:6800904
Promoter ID:HG_KWN:46019
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000346322,   ENST00000354792,   ENST00000360304,   ENST00000360367,   ENST00000360772,   NM_053025,   NM_053027,   NM_053028,   UC003EGS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363125,085,766 - 125,086,266 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7590 AgrOrtholog
COSMIC MYLK COSMIC
Ensembl Genes ENSG00000065534 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000346322 ENTREZGENE
  ENST00000346322.10 UniProtKB/Swiss-Prot
  ENST00000360304 ENTREZGENE
  ENST00000360304.8 UniProtKB/Swiss-Prot
  ENST00000360772 ENTREZGENE
  ENST00000360772.7 UniProtKB/Swiss-Prot
  ENST00000418370 ENTREZGENE
  ENST00000418370.6 UniProtKB/Swiss-Prot
  ENST00000464489.5 UniProtKB/TrEMBL
  ENST00000504946.6 UniProtKB/TrEMBL
  ENST00000508240 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000508240.2 UniProtKB/Swiss-Prot
  ENST00000510571.2 UniProtKB/TrEMBL
  ENST00000515434.1 UniProtKB/TrEMBL
  ENST00000578202.2 UniProtKB/TrEMBL
  ENST00000583087 ENTREZGENE
  ENST00000583087.6 UniProtKB/Swiss-Prot
  ENST00000684882.1 UniProtKB/TrEMBL
  ENST00000685021.1 UniProtKB/Swiss-Prot
  ENST00000685259.1 UniProtKB/TrEMBL
  ENST00000685665.1 UniProtKB/TrEMBL
  ENST00000685744 ENTREZGENE
  ENST00000685744.1 UniProtKB/Swiss-Prot
  ENST00000685953 ENTREZGENE
  ENST00000685953.1 UniProtKB/TrEMBL
  ENST00000686039.1 UniProtKB/TrEMBL
  ENST00000686245.1 UniProtKB/TrEMBL
  ENST00000686406.1 UniProtKB/Swiss-Prot
  ENST00000686761 ENTREZGENE
  ENST00000686761.1 UniProtKB/Swiss-Prot
  ENST00000687375 ENTREZGENE
  ENST00000687375.1 UniProtKB/Swiss-Prot
  ENST00000687434.1 UniProtKB/TrEMBL
  ENST00000687848 ENTREZGENE
  ENST00000687848.1 UniProtKB/TrEMBL
  ENST00000688024.1 UniProtKB/Swiss-Prot
  ENST00000688223.1 UniProtKB/TrEMBL
  ENST00000689227.1 UniProtKB/TrEMBL
  ENST00000690457 ENTREZGENE
  ENST00000690457.1 UniProtKB/TrEMBL
  ENST00000691933.1 UniProtKB/TrEMBL
  ENST00000692352.1 UniProtKB/TrEMBL
  ENST00000692356.1 UniProtKB/TrEMBL
  ENST00000693689 ENTREZGENE
  ENST00000693689.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000065534 GTEx
HGNC ID HGNC:7590 ENTREZGENE
Human Proteome Map MYLK Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MLCK1_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4638 UniProtKB/Swiss-Prot
NCBI Gene 4638 ENTREZGENE
OMIM 600922 OMIM
PANTHER IMMUNOGLOBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KETN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYOSIN LIGHT CHAIN KINASE, SMOOTH MUSCLE UniProtKB/TrEMBL
Pfam 23ISL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MYLK RGD, PharmGKB
PRINTS FNTYPEIII UniProtKB/TrEMBL
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I5KQY6_HUMAN UniProtKB/TrEMBL
  A0A8I5KS78_HUMAN UniProtKB/TrEMBL
  A0A8I5KTQ1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KU53 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KUB2_HUMAN UniProtKB/TrEMBL
  A0A8I5KUH4_HUMAN UniProtKB/TrEMBL
  A0A8I5KUP2_HUMAN UniProtKB/TrEMBL
  A0A8I5KVV3_HUMAN UniProtKB/TrEMBL
  A0A8I5KXG8_HUMAN UniProtKB/TrEMBL
  A0A8I5KYA1_HUMAN UniProtKB/TrEMBL
  A0A8I5KYB9_HUMAN UniProtKB/TrEMBL
  A0A8I5KYZ0_HUMAN UniProtKB/TrEMBL
  A0A8I5KZ33_HUMAN UniProtKB/TrEMBL
  A0A8I5QJT9_HUMAN UniProtKB/TrEMBL
  A0A8I5QJW9_HUMAN UniProtKB/TrEMBL
  A0A8I5QKL9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5QKW8_HUMAN UniProtKB/TrEMBL
  A0A8J9G5A3_HUMAN UniProtKB/TrEMBL
  B4DUE3 ENTREZGENE
  D3DN97 ENTREZGENE
  D6R9C2_HUMAN UniProtKB/TrEMBL
  F8WBL7_HUMAN UniProtKB/TrEMBL
  MYLK_HUMAN UniProtKB/Swiss-Prot
  O95796 ENTREZGENE
  O95797 ENTREZGENE
  O95798 ENTREZGENE
  O95799 ENTREZGENE
  Q05B97 ENTREZGENE, UniProtKB/TrEMBL
  Q05B98_HUMAN UniProtKB/TrEMBL
  Q05D81_HUMAN UniProtKB/TrEMBL
  Q06S79_HUMAN UniProtKB/TrEMBL
  Q14844 ENTREZGENE
  Q15746 ENTREZGENE
  Q16794 ENTREZGENE
  Q17S15 ENTREZGENE
  Q3B765_HUMAN UniProtKB/TrEMBL
  Q3ZCP9 ENTREZGENE
  Q5MY99 ENTREZGENE
  Q5MYA0 ENTREZGENE
  Q6P2N0 ENTREZGENE
  Q7Z4J0 ENTREZGENE
  Q9C0L5 ENTREZGENE
  Q9UBG5 ENTREZGENE
  Q9UBY6 ENTREZGENE
  Q9UIT9 ENTREZGENE
UniProt Secondary B4DUE3 UniProtKB/Swiss-Prot
  D3DN97 UniProtKB/Swiss-Prot
  O95796 UniProtKB/Swiss-Prot
  O95797 UniProtKB/Swiss-Prot
  O95798 UniProtKB/Swiss-Prot
  O95799 UniProtKB/Swiss-Prot
  Q14844 UniProtKB/Swiss-Prot
  Q16794 UniProtKB/Swiss-Prot
  Q17S15 UniProtKB/Swiss-Prot
  Q3ZCP9 UniProtKB/Swiss-Prot
  Q5MY99 UniProtKB/Swiss-Prot
  Q5MYA0 UniProtKB/Swiss-Prot
  Q6P2N0 UniProtKB/Swiss-Prot
  Q7Z4J0 UniProtKB/Swiss-Prot
  Q9C0L5 UniProtKB/Swiss-Prot
  Q9UBG5 UniProtKB/Swiss-Prot
  Q9UBY6 UniProtKB/Swiss-Prot
  Q9UIT9 UniProtKB/Swiss-Prot