NEDD4L (NEDD4 like E3 ubiquitin protein ligase) - Rat Genome Database

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Gene: NEDD4L (NEDD4 like E3 ubiquitin protein ligase) Homo sapiens
Analyze
Symbol: NEDD4L
Name: NEDD4 like E3 ubiquitin protein ligase
RGD ID: 1344203
HGNC Page HGNC:7728
Description: Enables potassium channel inhibitor activity; sodium channel inhibitor activity; and transmembrane transporter binding activity. Involved in several processes, including negative regulation of cation transmembrane transport; negative regulation of protein localization to cell surface; and positive regulation of dendrite extension. Located in plasma membrane. Implicated in periventricular nodular heterotopia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: E3 ubiquitin-protein ligase NEDD4-like; FLJ33870; HECT-type E3 ubiquitin transferase NED4L; hNedd4-2; KIAA0439; NEDD4-2; NEDD4.2; neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase; neural precursor cell expressed, developmentally down-regulated gene 4-like; PVNH7; RSP5; ubiquitin-protein ligase NEDD4-like; ubiquitin-protein ligase Rsp5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381858,044,226 - 58,401,540 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1858,044,226 - 58,401,540 (+)EnsemblGRCh38hg38GRCh38
GRCh371855,711,458 - 56,068,772 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361853,862,778 - 54,216,369 (+)NCBINCBI36Build 36hg18NCBI36
Build 341853,862,777 - 54,216,369NCBI
Celera1852,429,273 - 52,785,147 (+)NCBICelera
Cytogenetic Map18q21.31NCBI
HuRef1852,421,551 - 52,777,135 (+)NCBIHuRef
CHM1_11855,707,037 - 56,063,999 (+)NCBICHM1_1
T2T-CHM13v2.01858,244,126 - 58,602,300 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
aldosterone  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (EXP)
caffeine  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cocaine  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
deoxynivalenol  (EXP)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
Enterolactone  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
fenthion  (ISO)
fenvalerate  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glyphosate  (ISO)
graphite  (ISO)
hydroquinone  (EXP)
inulin  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
manganese(II) chloride  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methyl methacrylate  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP,ISO)
N,N-diethyl-m-toluamide  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
ranitidine  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sulfadimethoxine  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
theophylline  (EXP)
topotecan  (ISO)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
WIN 55212-2  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cell differentiation  (IEA)
establishment of localization in cell  (ISO)
hippo signaling  (IEA)
monoatomic ion transmembrane transport  (TAS)
negative regulation of potassium ion transmembrane transport  (IDA,IEA)
negative regulation of protein localization to cell surface  (IDA)
negative regulation of sodium ion transmembrane transport  (IDA)
negative regulation of sodium ion transport  (ISO)
negative regulation of systemic arterial blood pressure  (ISO)
positive regulation of caveolin-mediated endocytosis  (ISS)
positive regulation of dendrite extension  (IDA)
positive regulation of protein catabolic process  (IEA,ISO)
positive regulation of sodium ion transport  (ISO)
positive regulation of transcription by RNA polymerase II  (IEA)
proteasome-mediated ubiquitin-dependent protein catabolic process  (IDA)
protein K48-linked ubiquitination  (IDA)
protein monoubiquitination  (IEA,ISO)
protein polyubiquitination  (IEA)
protein ubiquitination  (IBA,IDA,IEA,IMP)
regulation of bicellular tight junction assembly  (ISO)
regulation of dendrite morphogenesis  (IBA,IEA)
regulation of membrane depolarization  (IDA)
regulation of membrane potential  (IDA)
regulation of membrane repolarization  (IDA)
regulation of monoatomic ion transmembrane transport  (IDA)
regulation of postsynaptic neurotransmitter receptor internalization  (ISO)
regulation of protein stability  (IMP)
regulation of sodium ion transmembrane transport  (IDA)
regulation of sodium ion transport  (ISO)
regulation protein catabolic process at postsynapse  (ISO)
response to salt stress  (ISO)
sodium ion transport  (ISO)
ubiquitin-dependent protein catabolic process  (IBA,IDA,IEA)
ventricular cardiac muscle cell action potential  (ISS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
1-4 toe syndactyly  (IAGP)
2-3 toe syndactyly  (IAGP)
4-5 finger syndactyly  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal heart valve morphology  (IAGP)
Abnormal nervous system morphology  (IAGP)
Absent speech  (IAGP)
Anteverted nares  (IAGP)
Aortic aneurysm  (IAGP)
Aortic regurgitation  (IAGP)
Ataxia  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axial hypotonia  (IAGP)
Cerebral visual impairment  (IAGP)
Choroid plexus cyst  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Congenital onset  (IAGP)
Contracture of the proximal interphalangeal joint of the 2nd finger  (IAGP)
Contracture of the proximal interphalangeal joint of the 3rd finger  (IAGP)
Cortical dysplasia  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Dolichocephaly  (IAGP)
Elbow contracture  (IAGP)
Exodeviation  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Focal-onset seizure  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Hernia  (IAGP)
Horizontal nystagmus  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Joint hypermobility  (IAGP)
Knee flexion contracture  (IAGP)
Long face  (IAGP)
Micrognathia  (IAGP)
Microretrognathia  (IAGP)
Myopia  (IAGP)
Narrow mouth  (IAGP)
Neonatal onset  (IAGP)
Optic disc pallor  (IAGP)
Patellar dislocation  (IAGP)
Patent ductus arteriosus  (IAGP)
Periventricular heterotopia  (IAGP)
Periventricular nodular heterotopia  (IAGP)
Persistent head lag  (IAGP)
Pierre-Robin sequence  (IAGP)
Polymicrogyria  (IAGP)
Proptosis  (IAGP)
Pyloric stenosis  (IAGP)
Round face  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short nose  (IAGP)
Shoulder dislocation  (IAGP)
Talipes equinovarus  (IAGP)
Thin skin  (IAGP)
Ventricular septal defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Differential regulation of Nedd4 ubiquitin ligases and their adaptor protein Ndfip1 in a rat model of ischemic stroke. Lackovic J, etal., Exp Neurol. 2012 May;235(1):326-35. Epub 2012 Mar 5.
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Downregulation of MicroRNA-494 inhibits the TGF-β1/Smads signaling pathway and prevents the development of hypospadias through upregulating Nedd4L. Tian RH, etal., Exp Mol Pathol. 2020 Aug;115:104452. doi: 10.1016/j.yexmp.2020.104452. Epub 2020 May 13.
Additional References at PubMed
PMID:8576257   PMID:8619474   PMID:9110174   PMID:9455477   PMID:9575161   PMID:9649342   PMID:10594025   PMID:11046148   PMID:11244092   PMID:11502596   PMID:11562473   PMID:11696533  
PMID:11742982   PMID:11748237   PMID:11802777   PMID:11840194   PMID:12050153   PMID:12139396   PMID:12477932   PMID:12522688   PMID:12729930   PMID:12876068   PMID:12911626   PMID:14556380  
PMID:14615060   PMID:14702039   PMID:14744259   PMID:15040001   PMID:15044175   PMID:15140763   PMID:15217910   PMID:15231748   PMID:15252135   PMID:15328345   PMID:15342556   PMID:15489223  
PMID:15489334   PMID:15496141   PMID:15548568   PMID:15576372   PMID:15677482   PMID:15778465   PMID:15814530   PMID:16006511   PMID:16103266   PMID:16169070   PMID:16344560   PMID:16416336  
PMID:16701206   PMID:16716084   PMID:16788695   PMID:16844684   PMID:16964398   PMID:17081983   PMID:17289006   PMID:17331106   PMID:17429078   PMID:17487281   PMID:17502380   PMID:17544362  
PMID:17652939   PMID:17719543   PMID:18268134   PMID:18293164   PMID:18321968   PMID:18321969   PMID:18322022   PMID:18498246   PMID:18577513   PMID:18591455   PMID:18701608   PMID:18981174  
PMID:19028597   PMID:19143627   PMID:19144635   PMID:19153599   PMID:19322201   PMID:19364400   PMID:19380724   PMID:19381069   PMID:19557014   PMID:19602703   PMID:19615332   PMID:19615732  
PMID:19617352   PMID:19635985   PMID:19664597   PMID:19690890   PMID:19706893   PMID:19917253   PMID:19953087   PMID:20003179   PMID:20051513   PMID:20064473   PMID:20086093   PMID:20090362  
PMID:20338996   PMID:20379614   PMID:20466724   PMID:20504882   PMID:20525693   PMID:20542005   PMID:20675381   PMID:20730100   PMID:20862313   PMID:20936779   PMID:21039987   PMID:21052022  
PMID:21057195   PMID:21088674   PMID:21154329   PMID:21159863   PMID:21176637   PMID:21396940   PMID:21463633   PMID:21478478   PMID:21572392   PMID:21762798   PMID:21852580   PMID:21873635  
PMID:21900244   PMID:21903422   PMID:21909941   PMID:21988832   PMID:22001757   PMID:22024150   PMID:22190034   PMID:22213801   PMID:22217575   PMID:22361880   PMID:22385262   PMID:22496338  
PMID:22505712   PMID:22558212   PMID:22658674   PMID:22754043   PMID:22773947   PMID:22879586   PMID:22904170   PMID:22921829   PMID:22952603   PMID:22957059   PMID:23146885   PMID:23236378  
PMID:23262292   PMID:23305486   PMID:23353631   PMID:23376485   PMID:23396981   PMID:23444366   PMID:23529131   PMID:23533145   PMID:23549273   PMID:23589291   PMID:23594824   PMID:23644597  
PMID:23686771   PMID:23695783   PMID:23792956   PMID:23793025   PMID:23812770   PMID:23873930   PMID:23886940   PMID:23895345   PMID:23936628   PMID:23999003   PMID:24047422   PMID:24071738  
PMID:24214981   PMID:24284497   PMID:24312311   PMID:24373531   PMID:24446284   PMID:24451387   PMID:24456330   PMID:24529757   PMID:24657276   PMID:24688054   PMID:24711643   PMID:24831002  
PMID:24831004   PMID:24850914   PMID:24920754   PMID:24981860   PMID:25092867   PMID:25295397   PMID:25416956   PMID:25527291   PMID:25542253   PMID:25631046   PMID:25633977   PMID:25752577  
PMID:25785312   PMID:25963657   PMID:26130719   PMID:26186194   PMID:26241057   PMID:26363003   PMID:26405101   PMID:26554540   PMID:26555259   PMID:26581907   PMID:26608079   PMID:26651153  
PMID:26673895   PMID:26740304   PMID:26760575   PMID:26823285   PMID:26854353   PMID:26949039   PMID:26961874   PMID:27022162   PMID:27146988   PMID:27182664   PMID:27339686   PMID:27339899  
PMID:27445338   PMID:27448760   PMID:27466427   PMID:27578003   PMID:27694961   PMID:27742835   PMID:27793840   PMID:27932573   PMID:28017963   PMID:28212375   PMID:28292929   PMID:28296171  
PMID:28366632   PMID:28461335   PMID:28514442   PMID:28515276   PMID:28572241   PMID:28608480   PMID:28611215   PMID:28700943   PMID:28798345   PMID:28820317   PMID:28972136   PMID:29117863  
PMID:29175326   PMID:29416926   PMID:29505301   PMID:29507755   PMID:29643511   PMID:29662198   PMID:29742433   PMID:29964046   PMID:30021006   PMID:30232011   PMID:30287686   PMID:30453017  
PMID:30587574   PMID:30967264   PMID:31015455   PMID:31036321   PMID:31056421   PMID:31091453   PMID:31340145   PMID:31357244   PMID:31586073   PMID:31618441   PMID:31673244   PMID:31728037  
PMID:31844113   PMID:31867777   PMID:31871319   PMID:31900993   PMID:31922594   PMID:31959741   PMID:31980649   PMID:31993646   PMID:32140098   PMID:32173736   PMID:32296183   PMID:32332792  
PMID:32460013   PMID:32614325   PMID:32724456   PMID:32811647   PMID:32916597   PMID:33045005   PMID:33058421   PMID:33093176   PMID:33106424   PMID:33117809   PMID:33144569   PMID:33282879  
PMID:33545068   PMID:33567268   PMID:33608556   PMID:33762435   PMID:33769697   PMID:33847006   PMID:33961781   PMID:34278744   PMID:34284061   PMID:34294877   PMID:34305532   PMID:34319380  
PMID:34330894   PMID:34475212   PMID:34743202   PMID:34823064   PMID:34941261   PMID:35044719   PMID:35090513   PMID:35145234   PMID:35256949   PMID:35271311   PMID:35353342   PMID:35509820  
PMID:35581745   PMID:35593463   PMID:35607322   PMID:35613689   PMID:35646490   PMID:35670107   PMID:35696571   PMID:35802146   PMID:35831314   PMID:35858421   PMID:35964538   PMID:35977942  
PMID:36052751   PMID:36114006   PMID:36136271   PMID:36161689   PMID:36215168   PMID:36244648   PMID:36257596   PMID:36398662   PMID:36597142   PMID:36618071   PMID:36634849   PMID:36662677  
PMID:36807336   PMID:36857592   PMID:36889770   PMID:36931259   PMID:36934385   PMID:36961927   PMID:37005481   PMID:37087754   PMID:37417251   PMID:37580757   PMID:37827155   PMID:37962894  
PMID:38155530   PMID:38302612   PMID:38309503   PMID:38526036  


Genomics

Comparative Map Data
NEDD4L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381858,044,226 - 58,401,540 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1858,044,226 - 58,401,540 (+)EnsemblGRCh38hg38GRCh38
GRCh371855,711,458 - 56,068,772 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361853,862,778 - 54,216,369 (+)NCBINCBI36Build 36hg18NCBI36
Build 341853,862,777 - 54,216,369NCBI
Celera1852,429,273 - 52,785,147 (+)NCBICelera
Cytogenetic Map18q21.31NCBI
HuRef1852,421,551 - 52,777,135 (+)NCBIHuRef
CHM1_11855,707,037 - 56,063,999 (+)NCBICHM1_1
T2T-CHM13v2.01858,244,126 - 58,602,300 (+)NCBIT2T-CHM13v2.0
Nedd4l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391865,017,551 - 65,350,888 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1865,020,776 - 65,350,899 (+)EnsemblGRCm39 Ensembl
GRCm381864,884,480 - 65,217,826 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1864,887,705 - 65,217,828 (+)EnsemblGRCm38mm10GRCm38
MGSCv371865,047,410 - 65,377,480 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361865,149,263 - 65,338,676 (+)NCBIMGSCv36mm8
Celera1866,271,347 - 66,493,213 (+)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1837.57NCBI
Nedd4l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81860,663,918 - 60,996,824 (+)NCBIGRCr8
mRatBN7.21858,393,759 - 58,726,709 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1858,393,509 - 58,723,137 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1860,487,918 - 60,820,828 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01861,186,393 - 61,519,168 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01859,015,711 - 59,343,901 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01860,392,376 - 60,719,720 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1860,392,376 - 60,719,720 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01859,595,643 - 59,921,504 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41861,134,242 - 61,477,040 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11861,528,414 - 61,549,290 (+)NCBI
Celera1856,529,040 - 56,853,871 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
Nedd4l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540242,339,380 - 42,688,714 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540242,339,380 - 42,688,661 (+)NCBIChiLan1.0ChiLan1.0
NEDD4L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21775,577,762 - 75,942,886 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11861,270,375 - 61,635,499 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01851,428,077 - 51,792,995 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11854,762,516 - 55,122,236 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1854,867,149 - 55,123,423 (+)Ensemblpanpan1.1panPan2
NEDD4L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1117,629,163 - 17,858,471 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl117,633,591 - 17,950,072 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha118,613,069 - 18,951,799 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0117,509,482 - 17,848,443 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl117,509,487 - 17,849,053 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1117,567,699 - 17,905,982 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0117,465,765 - 17,804,137 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0117,733,960 - 18,072,781 (-)NCBIUU_Cfam_GSD_1.0
Nedd4l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494430,867,247 - 31,171,348 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364976,106,268 - 6,318,354 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364976,106,284 - 6,318,339 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEDD4L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1162,364,057 - 162,513,718 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11162,364,053 - 162,736,515 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NEDD4L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11821,326,276 - 21,683,817 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1821,327,567 - 21,683,905 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660603,882,156 - 4,244,040 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nedd4l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247923,553,004 - 3,902,468 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247923,553,185 - 3,903,288 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NEDD4L
888 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001144967.3(NEDD4L):c.1316C>T (p.Pro439Leu) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002490915]|not provided [RCV000521270] Chr18:58341736 [GRCh38]
Chr18:56008968 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.2(NEDD4L):c.297+27812A>G single nucleotide variant Lung cancer [RCV000100900] Chr18:58279866 [GRCh38]
Chr18:55947098 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.31-21.32(chr18:58251999-58789954)x3 copy number gain See cases [RCV000054085] Chr18:58251999..58789954 [GRCh38]
Chr18:55919231..56457186 [GRCh37]
Chr18:54070211..54608166 [NCBI36]
Chr18:18q21.31-21.32		 uncertain significance
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1		 pathogenic
GRCh37/hg19 18q21.31-21.32(chr18:55020078-56892966) copy number loss Cholestasis [RCV003236725] Chr18:55020078..56892966 [GRCh37]
Chr18:18q21.31-21.32		 pathogenic
NM_001144967.3(NEDD4L):c.121A>G (p.Ser41Gly) single nucleotide variant not provided [RCV001349564] Chr18:58165860 [GRCh38]
Chr18:55833092 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.49-16229G>A single nucleotide variant not provided [RCV001520665] Chr18:58149559 [GRCh38]
Chr18:55816791 [GRCh37]
Chr18:18q21.31		 benign|drug response
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 copy number loss See cases [RCV000136501] Chr18:54857756..60590631 [GRCh38]
Chr18:52524987..58257864 [GRCh37]
Chr18:50675985..56408844 [NCBI36]
Chr18:18q21.2-21.32		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_001144967.3(NEDD4L):c.297+16701_297+17823del deletion Normal pregnancy [RCV000161840] Chr18:58268755..58269877 [GRCh38]
Chr18:55935987..55937109 [GRCh37]
Chr18:18q21.31		 not provided
NM_001144967.3(NEDD4L):c.2082G>T (p.Gln694His) single nucleotide variant Periventricular nodular heterotopia 7 [RCV000258902]|Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay [RCV000239730] Chr18:58367764 [GRCh38]
Chr18:56034996 [GRCh37]
Chr18:18q21.31		 pathogenic
NM_001144967.3(NEDD4L):c.2036A>G (p.Tyr679Cys) single nucleotide variant Periventricular nodular heterotopia 7 [RCV000258910]|Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay [RCV000239744] Chr18:58366201 [GRCh38]
Chr18:56033433 [GRCh37]
Chr18:18q21.31		 pathogenic
NM_001144967.3(NEDD4L):c.2690G>A (p.Arg897Gln) single nucleotide variant Intellectual disability [RCV001257768]|Periventricular nodular heterotopia 7 [RCV000258909]|Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay [RCV000239748]|not provided [RCV001589107] Chr18:58390680 [GRCh38]
Chr18:56057912 [GRCh37]
Chr18:18q21.31		 pathogenic|uncertain significance
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys) single nucleotide variant Chromosome 5Q14.3 deletion syndrome, distal [RCV003493512]|Periventricular nodular heterotopia 7 [RCV000258896]|Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay [RCV000239759]|not provided [RCV000433945] Chr18:58390667 [GRCh38]
Chr18:56057899 [GRCh37]
Chr18:18q21.31		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001144967.3(NEDD4L):c.123-23683G>A single nucleotide variant Periventricular nodular heterotopia 7 [RCV001195998] Chr18:58221744 [GRCh38]
Chr18:55888976 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.639C>T (p.Asn213=) single nucleotide variant not provided [RCV000229814] Chr18:58325121 [GRCh38]
Chr18:55992353 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2752+6C>T single nucleotide variant NEDD4L-related condition [RCV003919972]|Periventricular nodular heterotopia 7 [RCV002500800]|not provided [RCV000225969] Chr18:58390748 [GRCh38]
Chr18:56057980 [GRCh37]
Chr18:18q21.31		 benign|likely benign
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_001144967.3(NEDD4L):c.965A>G (p.Asn322Ser) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002499379]|not provided [RCV000734557] Chr18:58330889 [GRCh38]
Chr18:55998121 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.10:g.58044113G>A single nucleotide variant not provided [RCV001564732] Chr18:58044113 [GRCh38]
Chr18:55711345 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.649C>T (p.Arg217Trp) single nucleotide variant not provided [RCV001760459] Chr18:58325131 [GRCh38]
Chr18:55992363 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001144967.3(NEDD4L):c.1249A>G (p.Ile417Val) single nucleotide variant not provided [RCV000421607] Chr18:58341161 [GRCh38]
Chr18:56008393 [GRCh37]
Chr18:18q21.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_001144967.3(NEDD4L):c.2093A>G (p.Asn698Ser) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002481345]|not provided [RCV000432003] Chr18:58367775 [GRCh38]
Chr18:56035007 [GRCh37]
Chr18:18q21.31		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23		 likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_001144967.3(NEDD4L):c.698C>T (p.Ser233Leu) single nucleotide variant NEDD4L-related condition [RCV003925392]|Periventricular nodular heterotopia 7 [RCV002496847]|not provided [RCV000460253] Chr18:58329012 [GRCh38]
Chr18:55996244 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.2613C>T (p.Asn871=) single nucleotide variant not provided [RCV000461870]|not specified [RCV001821383] Chr18:58389150 [GRCh38]
Chr18:56056382 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.514-4G>A single nucleotide variant not provided [RCV000462269] Chr18:58324992 [GRCh38]
Chr18:55992224 [GRCh37]
Chr18:18q21.31		 benign|likely benign
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
NM_001144967.3(NEDD4L):c.739C>A (p.Arg247=) single nucleotide variant not provided [RCV000464433] Chr18:58329053 [GRCh38]
Chr18:55996285 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1234A>G (p.Thr412Ala) single nucleotide variant not provided [RCV001368044] Chr18:58341146 [GRCh38]
Chr18:56008378 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2802G>A (p.Glu934=) single nucleotide variant not provided [RCV000465689] Chr18:58391536 [GRCh38]
Chr18:56058768 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1395C>T (p.Pro465=) single nucleotide variant NEDD4L-related condition [RCV003942574]|not provided [RCV000466884] Chr18:58342923 [GRCh38]
Chr18:56010155 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2186-9G>A single nucleotide variant not provided [RCV000467569] Chr18:58370388 [GRCh38]
Chr18:56037620 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.285C>T (p.Asp95=) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002475924]|not provided [RCV000470499] Chr18:58252042 [GRCh38]
Chr18:55919274 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1002C>G (p.Pro334=) single nucleotide variant not provided [RCV000470656] Chr18:58333829 [GRCh38]
Chr18:56001061 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1164T>C (p.Pro388=) single nucleotide variant not provided [RCV000471754] Chr18:58341076 [GRCh38]
Chr18:56008308 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1980T>C (p.Tyr660=) single nucleotide variant not provided [RCV000473115] Chr18:58366145 [GRCh38]
Chr18:56033377 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.777_782dup (p.260_261EP[3]) duplication not provided [RCV000474647] Chr18:58329090..58329091 [GRCh38]
Chr18:55996322..55996323 [GRCh37]
Chr18:18q21.31		 benign|likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.813+5G>A single nucleotide variant NEDD4L-related condition [RCV003932769]|Periventricular nodular heterotopia 7 [RCV002496848]|not provided [RCV000476784] Chr18:58329132 [GRCh38]
Chr18:55996364 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.535T>A (p.Ser179Thr) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002489136]|not provided [RCV000477215] Chr18:58325017 [GRCh38]
Chr18:55992249 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.2655+9G>A single nucleotide variant not provided [RCV000457395] Chr18:58389201 [GRCh38]
Chr18:56056433 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2099G>C (p.Gly700Ala) single nucleotide variant not provided [RCV000457922] Chr18:58367781 [GRCh38]
Chr18:56035013 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.2753-4C>T single nucleotide variant Periventricular nodular heterotopia 7 [RCV002489137]|not provided [RCV000458672] Chr18:58391483 [GRCh38]
Chr18:56058715 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.122+9G>C single nucleotide variant Periventricular nodular heterotopia 7 [RCV002506156]|not provided [RCV000458894] Chr18:58165870 [GRCh38]
Chr18:55833102 [GRCh37]
Chr18:18q21.31		 benign|likely benign
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
NM_001144967.3(NEDD4L):c.1333C>T (p.Arg445Cys) single nucleotide variant Primary dilated cardiomyopathy [RCV000492069] Chr18:58341753 [GRCh38]
Chr18:56008985 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001144967.3(NEDD4L):c.1377+7C>T single nucleotide variant not provided [RCV000585109] Chr18:58341804 [GRCh38]
Chr18:56009036 [GRCh37]
Chr18:18q21.31		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
NM_001144967.3(NEDD4L):c.1088C>T (p.Ala363Val) single nucleotide variant Intellectual disability [RCV001252598]|Periventricular nodular heterotopia 7 [RCV000662168] Chr18:58335500 [GRCh38]
Chr18:56002732 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
t(X;18)(p21.1;q21.31) translocation Periventricular nodular heterotopia 7 [RCV000727546] Chr18:58296256..58296259 [GRCh38]
ChrX:36912855..36912858 [GRCh38]
Chr18:18q21.31
ChrX:Xp21.1		 likely pathogenic
NC_000018.9:g.(?_55225777)_(56940458_?)dup duplication not provided [RCV000821281] Chr18:57558545..59273226 [GRCh38]
Chr18:55225777..56940458 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 copy number loss not provided [RCV000739822] Chr18:51036415..59275480 [GRCh37]
Chr18:18q21.2-21.33		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.31(chr18:55908826-55909242)x0 copy number loss not provided [RCV000739831] Chr18:55908826..55909242 [GRCh37]
Chr18:18q21.31		 benign
GRCh37/hg19 18q21.31(chr18:55929965-55937109)x1 copy number loss not provided [RCV000739832] Chr18:55929965..55937109 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2488-43del deletion not provided [RCV001537361] Chr18:58387385 [GRCh38]
Chr18:56054617 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.122+292G>T single nucleotide variant not provided [RCV001586581] Chr18:58166153 [GRCh38]
Chr18:55833385 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.990+8G>C single nucleotide variant Periventricular nodular heterotopia 7 [RCV002487914]|not provided [RCV000871488] Chr18:58330922 [GRCh38]
Chr18:55998154 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2063+232A>G single nucleotide variant not provided [RCV001585621] Chr18:58366460 [GRCh38]
Chr18:56033692 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2257-6C>T single nucleotide variant not provided [RCV000861631] Chr18:58373168 [GRCh38]
Chr18:56040400 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2488-8del deletion Periventricular nodular heterotopia 7 [RCV002501985]|not provided [RCV001648407] Chr18:58387420 [GRCh38]
Chr18:56054652 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.551C>T (p.Ser184Phe) single nucleotide variant not provided [RCV000936153] Chr18:58325033 [GRCh38]
Chr18:55992265 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2548-274G>C single nucleotide variant not provided [RCV001571962] Chr18:58388811 [GRCh38]
Chr18:56056043 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1378-266G>A single nucleotide variant not provided [RCV001611804] Chr18:58342640 [GRCh38]
Chr18:56009872 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2487+217C>T single nucleotide variant not provided [RCV001546223] Chr18:58385803 [GRCh38]
Chr18:56053035 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.-227C>T single nucleotide variant not provided [RCV001666546] Chr18:58044434 [GRCh38]
Chr18:55711666 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.297+175A>G single nucleotide variant not provided [RCV001585285] Chr18:58252229 [GRCh38]
Chr18:55919461 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1609C>A (p.Arg537=) single nucleotide variant not provided [RCV000980693] Chr18:58349570 [GRCh38]
Chr18:56016802 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2487+7C>T single nucleotide variant not provided [RCV000869824] Chr18:58385593 [GRCh38]
Chr18:56052825 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2676C>T (p.Ala892=) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002503117]|not provided [RCV000977534] Chr18:58390666 [GRCh38]
Chr18:56057898 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1505G>A (p.Gly502Asp) single nucleotide variant not provided [RCV001053873] Chr18:58343033 [GRCh38]
Chr18:56010265 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.122+154C>T single nucleotide variant not provided [RCV001577285] Chr18:58166015 [GRCh38]
Chr18:55833247 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.693G>A (p.Ser231=) single nucleotide variant not provided [RCV001056037] Chr18:58329007 [GRCh38]
Chr18:55996239 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.*39T>G single nucleotide variant not provided [RCV001708060] Chr18:58396308 [GRCh38]
Chr18:56063540 [GRCh37]
Chr18:18q21.31		 benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.31(chr18:55931171-55937757)x1 copy number loss not provided [RCV000752352] Chr18:55931171..55937757 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.813+213T>C single nucleotide variant not provided [RCV001648338] Chr18:58329340 [GRCh38]
Chr18:55996572 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2487+63C>T single nucleotide variant not provided [RCV001575821] Chr18:58385649 [GRCh38]
Chr18:56052881 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2752+285C>G single nucleotide variant not provided [RCV001583864] Chr18:58391027 [GRCh38]
Chr18:56058259 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2548-5C>A single nucleotide variant not provided [RCV000866042] Chr18:58389080 [GRCh38]
Chr18:56056312 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1199G>A (p.Arg400His) single nucleotide variant not provided [RCV000899292] Chr18:58341111 [GRCh38]
Chr18:56008343 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1403G>A (p.Arg468Gln) single nucleotide variant NEDD4L-related condition [RCV003948096]|Periventricular nodular heterotopia 7 [RCV002478963]|not provided [RCV000864870] Chr18:58342931 [GRCh38]
Chr18:56010163 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2475C>T (p.Asn825=) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002501238]|not provided [RCV000865045] Chr18:58385574 [GRCh38]
Chr18:56052806 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.781C>T (p.Pro261Ser) single nucleotide variant not provided [RCV000864475] Chr18:58329095 [GRCh38]
Chr18:55996327 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1126-10G>T single nucleotide variant not provided [RCV000944929] Chr18:58341028 [GRCh38]
Chr18:56008260 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1248T>C (p.Pro416=) single nucleotide variant not provided [RCV000866629] Chr18:58341160 [GRCh38]
Chr18:56008392 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.937A>C (p.Arg313=) single nucleotide variant NEDD4L-related condition [RCV003965691]|not provided [RCV000865282] Chr18:58330861 [GRCh38]
Chr18:55998093 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1064C>T (p.Pro355Leu) single nucleotide variant not provided [RCV000867609] Chr18:58333891 [GRCh38]
Chr18:56001123 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1257+5G>A single nucleotide variant NEDD4L-related condition [RCV003965669]|not provided [RCV000863395] Chr18:58341174 [GRCh38]
Chr18:56008406 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.792G>A (p.Ser264=) single nucleotide variant not provided [RCV000943382] Chr18:58329106 [GRCh38]
Chr18:55996338 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2715A>G (p.Thr905=) single nucleotide variant not provided [RCV000866904] Chr18:58390705 [GRCh38]
Chr18:56057937 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.327C>T (p.Asp109=) single nucleotide variant not provided [RCV000864812] Chr18:58316011 [GRCh38]
Chr18:55983243 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.810C>T (p.Pro270=) single nucleotide variant not provided [RCV000864132] Chr18:58329124 [GRCh38]
Chr18:55996356 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2515T>C (p.Leu839=) single nucleotide variant not provided [RCV000976424] Chr18:58387466 [GRCh38]
Chr18:56054698 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1200C>T (p.Arg400=) single nucleotide variant not provided [RCV000945571] Chr18:58341112 [GRCh38]
Chr18:56008344 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.204+10G>A single nucleotide variant not provided [RCV000865727] Chr18:58245518 [GRCh38]
Chr18:55912750 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1530C>T (p.Asn510=) single nucleotide variant not provided [RCV000865960] Chr18:58343058 [GRCh38]
Chr18:56010290 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.684C>T (p.Asp228=) single nucleotide variant not provided [RCV000868128] Chr18:58328998 [GRCh38]
Chr18:55996230 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1533C>A (p.Gly511=) single nucleotide variant not provided [RCV000924578] Chr18:58343061 [GRCh38]
Chr18:56010293 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2488-7C>T single nucleotide variant not provided [RCV000950950] Chr18:58387432 [GRCh38]
Chr18:56054664 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1464C>T (p.Pro488=) single nucleotide variant not provided [RCV000950959] Chr18:58342992 [GRCh38]
Chr18:56010224 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.514C>T (p.His172Tyr) single nucleotide variant not provided [RCV000983863] Chr18:58324996 [GRCh38]
Chr18:55992228 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.698C>G (p.Ser233Trp) single nucleotide variant not provided [RCV001070976] Chr18:58329012 [GRCh38]
Chr18:55996244 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.1154C>T (p.Pro385Leu) single nucleotide variant not provided [RCV001071934] Chr18:58341066 [GRCh38]
Chr18:56008298 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.349-3C>A single nucleotide variant Periventricular nodular heterotopia 7 [RCV002479230]|not provided [RCV001034012] Chr18:58322422 [GRCh38]
Chr18:55989654 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2427-1G>C single nucleotide variant not provided [RCV001034069] Chr18:58385525 [GRCh38]
Chr18:56052757 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1949T>C (p.Ile650Thr) single nucleotide variant not provided [RCV001034113] Chr18:58366114 [GRCh38]
Chr18:56033346 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.574C>T (p.Pro192Ser) single nucleotide variant not provided [RCV001038638] Chr18:58325056 [GRCh38]
Chr18:55992288 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_001144967.3(NEDD4L):c.1882T>A (p.Phe628Ile) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002481883]|not provided [RCV001040816] Chr18:58366047 [GRCh38]
Chr18:56033279 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2330T>G (p.Ile777Arg) single nucleotide variant not provided [RCV001045594] Chr18:58373247 [GRCh38]
Chr18:56040479 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.58C>T (p.Arg20Cys) single nucleotide variant not provided [RCV001041211] Chr18:58165797 [GRCh38]
Chr18:55833029 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln) single nucleotide variant Intellectual disability [RCV001257766]|Periventricular nodular heterotopia 7 [RCV001072145]|not provided [RCV001862474] Chr18:58325105 [GRCh38]
Chr18:55992337 [GRCh37]
Chr18:18q21.31		 pathogenic|likely pathogenic
NM_001144967.3(NEDD4L):c.271T>A (p.Phe91Ile) single nucleotide variant Periventricular nodular heterotopia 7 [RCV000790908] Chr18:58252028 [GRCh38]
Chr18:55919260 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1654-10C>G single nucleotide variant NEDD4L-related condition [RCV003892722]|Periventricular nodular heterotopia 7 [RCV002487723]|not provided [RCV000805038] Chr18:58350981 [GRCh38]
Chr18:56018213 [GRCh37]
Chr18:18q21.31		 benign|likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.13C>T (p.Leu5Phe) single nucleotide variant not provided [RCV000861367] Chr18:58044673 [GRCh38]
Chr18:55711905 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.348+10G>T single nucleotide variant not provided [RCV000863903] Chr18:58316042 [GRCh38]
Chr18:55983274 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2040C>T (p.Tyr680=) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002495238]|not provided [RCV000863953] Chr18:58366205 [GRCh38]
Chr18:56033437 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.939A>G (p.Arg313=) single nucleotide variant not provided [RCV000926552] Chr18:58330863 [GRCh38]
Chr18:55998095 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2715A>C (p.Thr905=) single nucleotide variant NEDD4L-related condition [RCV003955570]|not provided [RCV000861183] Chr18:58390705 [GRCh38]
Chr18:56057937 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.1708+10C>T single nucleotide variant not provided [RCV000983915] Chr18:58351055 [GRCh38]
Chr18:56018287 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1377+8G>A single nucleotide variant not provided [RCV000862971] Chr18:58341805 [GRCh38]
Chr18:56009037 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2307T>C (p.Thr769=) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002495285]|not provided [RCV000868652] Chr18:58373224 [GRCh38]
Chr18:56040456 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1278C>T (p.Ser426=) single nucleotide variant not provided [RCV000945864] Chr18:58341698 [GRCh38]
Chr18:56008930 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1152G>A (p.Thr384=) single nucleotide variant not provided [RCV000868883] Chr18:58341064 [GRCh38]
Chr18:56008296 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2487+9T>C single nucleotide variant not provided [RCV000870094] Chr18:58385595 [GRCh38]
Chr18:56052827 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2718G>A (p.Ser906=) single nucleotide variant not provided [RCV000980694] Chr18:58390708 [GRCh38]
Chr18:56057940 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.129G>T (p.Pro43=) single nucleotide variant not provided [RCV000967155] Chr18:58245433 [GRCh38]
Chr18:55912665 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.122+7T>A single nucleotide variant NEDD4L-related condition [RCV003918391]|not provided [RCV000867473] Chr18:58165868 [GRCh38]
Chr18:55833100 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.693G>C (p.Ser231=) single nucleotide variant not provided [RCV000937154] Chr18:58329007 [GRCh38]
Chr18:55996239 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.279A>G (p.Val93=) single nucleotide variant not provided [RCV000868082] Chr18:58252036 [GRCh38]
Chr18:55919268 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2565C>T (p.Leu855=) single nucleotide variant not provided [RCV000868087] Chr18:58389102 [GRCh38]
Chr18:56056334 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1155G>A (p.Pro385=) single nucleotide variant not provided [RCV000869415] Chr18:58341067 [GRCh38]
Chr18:56008299 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1599A>G (p.Pro533=) single nucleotide variant not provided [RCV000861755] Chr18:58349560 [GRCh38]
Chr18:56016792 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2316C>T (p.Asp772=) single nucleotide variant not provided [RCV000863382] Chr18:58373233 [GRCh38]
Chr18:56040465 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1293C>T (p.Asn431=) single nucleotide variant not provided [RCV000896663] Chr18:58341713 [GRCh38]
Chr18:56008945 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1272T>G (p.Gly424=) single nucleotide variant not provided [RCV000951927] Chr18:58341692 [GRCh38]
Chr18:56008924 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1370C>T (p.Pro457Leu) single nucleotide variant Inborn genetic diseases [RCV003380775]|not provided [RCV000917890] Chr18:58341790 [GRCh38]
Chr18:56009022 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.1534C>A (p.Arg512=) single nucleotide variant not provided [RCV000924579] Chr18:58343062 [GRCh38]
Chr18:56010294 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1197G>A (p.Gly399=) single nucleotide variant NEDD4L-related condition [RCV003948086]|not provided [RCV000863752] Chr18:58341109 [GRCh38]
Chr18:56008341 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.2656-8G>A single nucleotide variant NEDD4L-related condition [RCV003920385]|not provided [RCV000870380] Chr18:58390638 [GRCh38]
Chr18:56057870 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1535G>A (p.Arg512Gln) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002487753]|not provided [RCV000810228] Chr18:58343063 [GRCh38]
Chr18:56010295 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.607G>C (p.Val203Leu) single nucleotide variant not provided [RCV000816047] Chr18:58325089 [GRCh38]
Chr18:55992321 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1036G>A (p.Ala346Thr) single nucleotide variant not provided [RCV000798424] Chr18:58333863 [GRCh38]
Chr18:56001095 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.151G>A (p.Val51Ile) single nucleotide variant not provided [RCV000801326] Chr18:58245455 [GRCh38]
Chr18:55912687 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.871C>G (p.Leu291Val) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002501131]|not provided [RCV000819476] Chr18:58330795 [GRCh38]
Chr18:55998027 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1329G>A (p.Arg443=) single nucleotide variant not provided [RCV000871040] Chr18:58341749 [GRCh38]
Chr18:56008981 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1523C>T (p.Ala508Val) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002495146]|not provided [RCV000814792] Chr18:58343051 [GRCh38]
Chr18:56010283 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2614G>A (p.Gly872Ser) single nucleotide variant Inborn genetic diseases [RCV002535934]|not provided [RCV000821875] Chr18:58389151 [GRCh38]
Chr18:56056383 [GRCh37]
Chr18:18q21.31		 benign|likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.1371G>A (p.Pro457=) single nucleotide variant not provided [RCV000871063] Chr18:58341791 [GRCh38]
Chr18:56009023 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2426+4T>C single nucleotide variant not provided [RCV000808017] Chr18:58383323 [GRCh38]
Chr18:56050555 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.784G>A (p.Glu262Lys) single nucleotide variant not provided [RCV000796692] Chr18:58329098 [GRCh38]
Chr18:55996330 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.740G>T (p.Arg247Leu) single nucleotide variant not provided [RCV000802398] Chr18:58329054 [GRCh38]
Chr18:55996286 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.989T>C (p.Ile330Thr) single nucleotide variant not provided [RCV000799980] Chr18:58330913 [GRCh38]
Chr18:55998145 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.1822T>A (p.Leu608Ile) single nucleotide variant not provided [RCV000813465] Chr18:58364322 [GRCh38]
Chr18:56031554 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.740G>A (p.Arg247Gln) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002477845]|not provided [RCV000804248] Chr18:58329054 [GRCh38]
Chr18:55996286 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1353A>G (p.Thr451=) single nucleotide variant not provided [RCV000817542] Chr18:58341773 [GRCh38]
Chr18:56009005 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.318C>T (p.Gly106=) single nucleotide variant not provided [RCV000808282] Chr18:58316002 [GRCh38]
Chr18:55983234 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.968G>C (p.Gly323Ala) single nucleotide variant Inborn genetic diseases [RCV003362978]|not provided [RCV000821466]|not specified [RCV001193518] Chr18:58330892 [GRCh38]
Chr18:55998124 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q21.31(chr18:56018446-56119213)x3 copy number gain not provided [RCV000848575] Chr18:56018446..56119213 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_56018203)_(56063521_?)dup duplication not provided [RCV000804615] Chr18:58350971..58396289 [GRCh38]
Chr18:56018203..56063521 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2560G>A (p.Gly854Ser) single nucleotide variant not provided [RCV000811711] Chr18:58389097 [GRCh38]
Chr18:56056329 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.411-6G>A single nucleotide variant Periventricular nodular heterotopia 7 [RCV002505625]|not provided [RCV001059738] Chr18:58323226 [GRCh38]
Chr18:55990458 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33		 pathogenic
NM_001144967.3(NEDD4L):c.1037C>T (p.Ala346Val) single nucleotide variant not provided [RCV001058820] Chr18:58333864 [GRCh38]
Chr18:56001096 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1575+6G>A single nucleotide variant not provided [RCV000794372] Chr18:58343109 [GRCh38]
Chr18:56010341 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_001144967.3(NEDD4L):c.163A>G (p.Asn55Asp) single nucleotide variant Inborn genetic diseases [RCV003338795]|not provided [RCV000792979] Chr18:58245467 [GRCh38]
Chr18:55912699 [GRCh37]
Chr18:18q21.31		 benign|likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.2542C>T (p.Leu848=) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002507477]|not provided [RCV000863207] Chr18:58387493 [GRCh38]
Chr18:56054725 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.1298A>G (p.Asn433Ser) single nucleotide variant not provided [RCV000798875] Chr18:58341718 [GRCh38]
Chr18:56008950 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.815C>T (p.Pro272Leu) single nucleotide variant Inborn genetic diseases [RCV003243355]|not provided [RCV000863489] Chr18:58330739 [GRCh38]
Chr18:55997971 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.2415G>A (p.Arg805=) single nucleotide variant not provided [RCV000938287] Chr18:58383308 [GRCh38]
Chr18:56050540 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2158G>T (p.Ala720Ser) single nucleotide variant Inborn genetic diseases [RCV002538188]|not provided [RCV000814242] Chr18:58367840 [GRCh38]
Chr18:56035072 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
GRCh37/hg19 18q21.31-21.32(chr18:55991937-56852926)x1 copy number loss not provided [RCV000847603] Chr18:55991937..56852926 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance
NM_001144967.3(NEDD4L):c.699G>A (p.Ser233=) single nucleotide variant not provided [RCV000869902] Chr18:58329013 [GRCh38]
Chr18:55996245 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2273A>G (p.Asn758Ser) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002479327]|not provided [RCV001053806] Chr18:58373190 [GRCh38]
Chr18:56040422 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.467dup (p.Asn156fs) duplication not provided [RCV000996693] Chr18:58323282..58323283 [GRCh38]
Chr18:55990514..55990515 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.534C>G (p.Asp178Glu) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002484305]|not provided [RCV001239160] Chr18:58325016 [GRCh38]
Chr18:55992248 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2815G>A (p.Ala939Thr) single nucleotide variant not provided [RCV001223918] Chr18:58391549 [GRCh38]
Chr18:56058781 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.1170C>T (p.Gly390=) single nucleotide variant not provided [RCV001217654] Chr18:58341082 [GRCh38]
Chr18:56008314 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.980G>A (p.Ser327Asn) single nucleotide variant not provided [RCV001237653] Chr18:58330904 [GRCh38]
Chr18:55998136 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1128A>G (p.Pro376=) single nucleotide variant not provided [RCV001221422] Chr18:58341040 [GRCh38]
Chr18:56008272 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.1257+4C>T single nucleotide variant not provided [RCV001221226] Chr18:58341173 [GRCh38]
Chr18:56008405 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1691C>A (p.Thr564Lys) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002504315]|not provided [RCV001232002] Chr18:58351028 [GRCh38]
Chr18:56018260 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2624_2625delinsAG (p.Pro875Gln) indel not provided [RCV001221616] Chr18:58389161..58389162 [GRCh38]
Chr18:56056393..56056394 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1400G>A (p.Arg467His) single nucleotide variant not provided [RCV001218577] Chr18:58342928 [GRCh38]
Chr18:56010160 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1457A>G (p.Asn486Ser) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002497756]|not provided [RCV001221892] Chr18:58342985 [GRCh38]
Chr18:56010217 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1229C>G (p.Thr410Ser) single nucleotide variant not provided [RCV001226037] Chr18:58341141 [GRCh38]
Chr18:56008373 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1820A>C (p.Lys607Thr) single nucleotide variant not provided [RCV001241056] Chr18:58364320 [GRCh38]
Chr18:56031552 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2873G>A (p.Arg958Gln) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002491802]|not provided [RCV001241103] Chr18:58396214 [GRCh38]
Chr18:56063446 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1254G>A (p.Met418Ile) single nucleotide variant not provided [RCV001233977] Chr18:58341166 [GRCh38]
Chr18:56008398 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q21.31(chr18:56018446-56116713)x3 copy number gain not provided [RCV000847352] Chr18:56018446..56116713 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1565C>T (p.Thr522Ile) single nucleotide variant not provided [RCV003318252] Chr18:58343093 [GRCh38]
Chr18:56010325 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2425G>A (p.Asp809Asn) single nucleotide variant not provided [RCV001229033] Chr18:58383318 [GRCh38]
Chr18:56050550 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2665C>T (p.Leu889Phe) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002489733]|not provided [RCV001091654] Chr18:58390655 [GRCh38]
Chr18:56057887 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2063C>G (p.Thr688Arg) single nucleotide variant Periventricular nodular heterotopia 7 [RCV001249661] Chr18:58366228 [GRCh38]
Chr18:56033460 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2655+253C>T single nucleotide variant not provided [RCV001549434] Chr18:58389445 [GRCh38]
Chr18:56056677 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2427-64G>A single nucleotide variant not provided [RCV001568493] Chr18:58385462 [GRCh38]
Chr18:56052694 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.348+267C>A single nucleotide variant not provided [RCV001564969] Chr18:58316299 [GRCh38]
Chr18:55983531 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.410+10G>A single nucleotide variant not provided [RCV003107096] Chr18:58322496 [GRCh38]
Chr18:55989728 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1377+212C>T single nucleotide variant not provided [RCV001552093] Chr18:58342009 [GRCh38]
Chr18:56009241 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.814-185A>G single nucleotide variant not provided [RCV001548167] Chr18:58330553 [GRCh38]
Chr18:55997785 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.813+123C>T single nucleotide variant not provided [RCV001560004] Chr18:58329250 [GRCh38]
Chr18:55996482 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2063+38G>A single nucleotide variant not provided [RCV001686757] Chr18:58366266 [GRCh38]
Chr18:56033498 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.681-106C>A single nucleotide variant not provided [RCV001554906] Chr18:58328889 [GRCh38]
Chr18:55996121 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1114G>A (p.Glu372Lys) single nucleotide variant Periventricular nodular heterotopia 7 [RCV001542353] Chr18:58335526 [GRCh38]
Chr18:56002758 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.49-270A>G single nucleotide variant not provided [RCV001612133] Chr18:58165518 [GRCh38]
Chr18:55832750 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1767+273A>C single nucleotide variant not provided [RCV001555069] Chr18:58357525 [GRCh38]
Chr18:56024757 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.-275T>G single nucleotide variant not provided [RCV001655357] Chr18:58044386 [GRCh38]
Chr18:55711618 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.123-236T>C single nucleotide variant not provided [RCV001721993] Chr18:58245191 [GRCh38]
Chr18:55912423 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.205-162C>G single nucleotide variant not provided [RCV001721996] Chr18:58248737 [GRCh38]
Chr18:55915969 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.348+66T>C single nucleotide variant not provided [RCV001619445] Chr18:58316098 [GRCh38]
Chr18:55983330 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1767+46C>T single nucleotide variant not provided [RCV001657436] Chr18:58357298 [GRCh38]
Chr18:56024530 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.349-200T>C single nucleotide variant not provided [RCV001562218] Chr18:58322225 [GRCh38]
Chr18:55989457 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1126-257C>T single nucleotide variant not provided [RCV001556999] Chr18:58340781 [GRCh38]
Chr18:56008013 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.991-116T>A single nucleotide variant not provided [RCV001594242] Chr18:58333702 [GRCh38]
Chr18:56000934 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2064-251C>T single nucleotide variant not provided [RCV001611529] Chr18:58367495 [GRCh38]
Chr18:56034727 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2186-113A>G single nucleotide variant not provided [RCV001563035] Chr18:58370284 [GRCh38]
Chr18:56037516 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1834-298A>G single nucleotide variant not provided [RCV001592407] Chr18:58365701 [GRCh38]
Chr18:56032933 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1126-122A>G single nucleotide variant not provided [RCV001650142] Chr18:58340916 [GRCh38]
Chr18:56008148 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1709-193G>A single nucleotide variant not provided [RCV001551961] Chr18:58357001 [GRCh38]
Chr18:56024233 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.*14C>T single nucleotide variant not provided [RCV001617272] Chr18:58396283 [GRCh38]
Chr18:56063515 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2752+277G>A single nucleotide variant not provided [RCV001724542] Chr18:58391019 [GRCh38]
Chr18:56058251 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.244-149C>A single nucleotide variant not provided [RCV001568230] Chr18:58251852 [GRCh38]
Chr18:55919084 [GRCh37]
Chr18:18q21.31		 likely benign
NC_000018.10:g.58044122G>C single nucleotide variant not provided [RCV001724688] Chr18:58044122 [GRCh38]
Chr18:55711354 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1378-286_1378-285del deletion not provided [RCV001552943] Chr18:58342619..58342620 [GRCh38]
Chr18:56009851..56009852 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.49-16267A>G single nucleotide variant not provided [RCV001653113] Chr18:58149521 [GRCh38]
Chr18:55816753 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2826-316A>G single nucleotide variant not provided [RCV001617160] Chr18:58395851 [GRCh38]
Chr18:56063083 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2655+78G>A single nucleotide variant not provided [RCV001685689] Chr18:58389270 [GRCh38]
Chr18:56056502 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1347G>A (p.Ser449=) single nucleotide variant not provided [RCV000902793] Chr18:58341767 [GRCh38]
Chr18:56008999 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1258-5A>C single nucleotide variant not provided [RCV000861879] Chr18:58341673 [GRCh38]
Chr18:56008905 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1325G>A (p.Arg442His) single nucleotide variant not provided [RCV000983858] Chr18:58341745 [GRCh38]
Chr18:56008977 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2412A>G (p.Lys804=) single nucleotide variant not provided [RCV000929798] Chr18:58383305 [GRCh38]
Chr18:56050537 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2892C>T (p.Ala964=) single nucleotide variant NEDD4L-related condition [RCV003918341]|not provided [RCV000862627] Chr18:58396233 [GRCh38]
Chr18:56063465 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.1911C>T (p.Ser637=) single nucleotide variant not provided [RCV000862639] Chr18:58366076 [GRCh38]
Chr18:56033308 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1644C>T (p.Gly548=) single nucleotide variant not provided [RCV000866896] Chr18:58349605 [GRCh38]
Chr18:56016837 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.2811C>G (p.Pro937=) single nucleotide variant not provided [RCV000869463] Chr18:58391545 [GRCh38]
Chr18:56058777 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1708+10C>G single nucleotide variant not provided [RCV000887522] Chr18:58351055 [GRCh38]
Chr18:56018287 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.49-6T>C single nucleotide variant NEDD4L-related condition [RCV003938230]|Periventricular nodular heterotopia 7 [RCV002501217]|not provided [RCV000862869] Chr18:58165782 [GRCh38]
Chr18:55833014 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.252A>G (p.Pro84=) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002507459]|not provided [RCV000860948] Chr18:58252009 [GRCh38]
Chr18:55919241 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2490A>C (p.Gly830=) single nucleotide variant not provided [RCV000916650] Chr18:58387441 [GRCh38]
Chr18:56054673 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2634C>T (p.Pro878=) single nucleotide variant not provided [RCV000873461] Chr18:58389171 [GRCh38]
Chr18:56056403 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1297A>G (p.Asn433Asp) single nucleotide variant not provided [RCV000872325] Chr18:58341717 [GRCh38]
Chr18:56008949 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2334C>T (p.Asp778=) single nucleotide variant not provided [RCV000868432] Chr18:58373251 [GRCh38]
Chr18:56040483 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1244G>A (p.Arg415Gln) single nucleotide variant not provided [RCV001222203] Chr18:58341156 [GRCh38]
Chr18:56008388 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2635G>A (p.Val879Ile) single nucleotide variant not provided [RCV001242297] Chr18:58389172 [GRCh38]
Chr18:56056404 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.2063C>T (p.Thr688Met) single nucleotide variant not provided [RCV001068984] Chr18:58366228 [GRCh38]
Chr18:56033460 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.1396G>A (p.Val466Ile) single nucleotide variant Inborn genetic diseases [RCV003166493]|not provided [RCV001239623] Chr18:58342924 [GRCh38]
Chr18:56010156 [GRCh37]
Chr18:18q21.31		 benign|likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.2645G>C (p.Trp882Ser) single nucleotide variant not provided [RCV001070995] Chr18:58389182 [GRCh38]
Chr18:56056414 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.1721C>G (p.Thr574Ser) single nucleotide variant not provided [RCV001240286] Chr18:58357206 [GRCh38]
Chr18:56024438 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.439C>T (p.Arg147Ter) single nucleotide variant Intellectual disability [RCV001257767]|not provided [RCV001209044] Chr18:58323260 [GRCh38]
Chr18:55990492 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.2377A>G (p.Asn793Asp) single nucleotide variant not provided [RCV001240595] Chr18:58383270 [GRCh38]
Chr18:56050502 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1666G>A (p.Glu556Lys) single nucleotide variant not provided [RCV001213998] Chr18:58351003 [GRCh38]
Chr18:56018235 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.59G>A (p.Arg20His) single nucleotide variant not provided [RCV001237367] Chr18:58165798 [GRCh38]
Chr18:55833030 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.767G>A (p.Ser256Asn) single nucleotide variant not provided [RCV001217582] Chr18:58329081 [GRCh38]
Chr18:55996313 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2621G>T (p.Cys874Phe) single nucleotide variant not provided [RCV001221615] Chr18:58389158 [GRCh38]
Chr18:56056390 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.743G>A (p.Arg248His) single nucleotide variant not provided [RCV000935703] Chr18:58329057 [GRCh38]
Chr18:55996289 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1326C>T (p.Arg442=) single nucleotide variant not provided [RCV000890626] Chr18:58341746 [GRCh38]
Chr18:56008978 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2186-10C>T single nucleotide variant NEDD4L-related condition [RCV003957950]|Periventricular nodular heterotopia 7 [RCV002505277]|not provided [RCV000891018] Chr18:58370387 [GRCh38]
Chr18:56037619 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.49-124C>T single nucleotide variant not provided [RCV001541338] Chr18:58165664 [GRCh38]
Chr18:55832896 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2826-282A>G single nucleotide variant not provided [RCV001557165] Chr18:58395885 [GRCh38]
Chr18:56063117 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.*320T>C single nucleotide variant not provided [RCV001557598] Chr18:58396589 [GRCh38]
Chr18:56063821 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.410+96G>A single nucleotide variant not provided [RCV001563022] Chr18:58322582 [GRCh38]
Chr18:55989814 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2353-77G>A single nucleotide variant not provided [RCV001558163] Chr18:58383169 [GRCh38]
Chr18:56050401 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2655+49T>C single nucleotide variant not provided [RCV001621537] Chr18:58389241 [GRCh38]
Chr18:56056473 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2487+85G>A single nucleotide variant not provided [RCV001559045] Chr18:58385671 [GRCh38]
Chr18:56052903 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2488-8dup duplication Periventricular nodular heterotopia 7 [RCV002476857]|not provided [RCV001552760] Chr18:58387419..58387420 [GRCh38]
Chr18:56054651..56054652 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.1378-267T>C single nucleotide variant not provided [RCV001609368] Chr18:58342639 [GRCh38]
Chr18:56009871 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.49-16583A>G single nucleotide variant not provided [RCV001595898] Chr18:58149205 [GRCh38]
Chr18:55816437 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1767+71A>G single nucleotide variant not provided [RCV001595926] Chr18:58357323 [GRCh38]
Chr18:56024555 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2752+252del deletion not provided [RCV001553167] Chr18:58390983 [GRCh38]
Chr18:56058215 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.264A>T (p.Arg88Ser) single nucleotide variant not provided [RCV002469801] Chr18:58252021 [GRCh38]
Chr18:55919253 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1125+6G>T single nucleotide variant not provided [RCV001573687] Chr18:58335543 [GRCh38]
Chr18:56002775 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.297+17A>G single nucleotide variant not provided [RCV001547615] Chr18:58252071 [GRCh38]
Chr18:55919303 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.2826-85C>T single nucleotide variant not provided [RCV001595358] Chr18:58396082 [GRCh38]
Chr18:56063314 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1106C>G (p.Thr369Arg) single nucleotide variant NEDD4L-related condition [RCV003921279]|not provided [RCV001621471] Chr18:58335518 [GRCh38]
Chr18:56002750 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.513+344G>A single nucleotide variant not provided [RCV001638839] Chr18:58323678 [GRCh38]
Chr18:55990910 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.297+209G>C single nucleotide variant not provided [RCV001717365] Chr18:58252263 [GRCh38]
Chr18:55919495 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2826-199A>G single nucleotide variant not provided [RCV001688607] Chr18:58395968 [GRCh38]
Chr18:56063200 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.48+31C>T single nucleotide variant not provided [RCV001660903] Chr18:58044739 [GRCh38]
Chr18:55711971 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.-46C>T single nucleotide variant not provided [RCV001655220] Chr18:58044615 [GRCh38]
Chr18:55711847 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.990+204A>C single nucleotide variant not provided [RCV001594140] Chr18:58331118 [GRCh38]
Chr18:55998350 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1575+210G>T single nucleotide variant not provided [RCV001638948] Chr18:58343313 [GRCh38]
Chr18:56010545 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2825+22A>G single nucleotide variant not provided [RCV001597393] Chr18:58391581 [GRCh38]
Chr18:56058813 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.348+100A>G single nucleotide variant not provided [RCV001652989] Chr18:58316132 [GRCh38]
Chr18:55983364 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2441G>A (p.Trp814Ter) single nucleotide variant not provided [RCV001531446] Chr18:58385540 [GRCh38]
Chr18:56052772 [GRCh37]
Chr18:18q21.31		 likely pathogenic
NM_001144967.3(NEDD4L):c.513+315A>G single nucleotide variant not provided [RCV001660888] Chr18:58323649 [GRCh38]
Chr18:55990881 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1653+50A>C single nucleotide variant not provided [RCV001590675] Chr18:58349664 [GRCh38]
Chr18:56016896 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2487+244T>G single nucleotide variant not provided [RCV001717398] Chr18:58385830 [GRCh38]
Chr18:56053062 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.204+275T>C single nucleotide variant not provided [RCV001677937] Chr18:58245783 [GRCh38]
Chr18:55913015 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.410+50A>G single nucleotide variant not provided [RCV001595646] Chr18:58322536 [GRCh38]
Chr18:55989768 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.349-179A>T single nucleotide variant not provided [RCV001650385] Chr18:58322246 [GRCh38]
Chr18:55989478 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.123-237G>C single nucleotide variant not provided [RCV001721994] Chr18:58245190 [GRCh38]
Chr18:55912422 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2186-141T>C single nucleotide variant not provided [RCV001721997] Chr18:58370256 [GRCh38]
Chr18:56037488 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2426+14T>C single nucleotide variant not provided [RCV001635787] Chr18:58383333 [GRCh38]
Chr18:56050565 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1125+33A>G single nucleotide variant not provided [RCV001620663] Chr18:58335570 [GRCh38]
Chr18:56002802 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1575+258G>A single nucleotide variant not provided [RCV001689108] Chr18:58343361 [GRCh38]
Chr18:56010593 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2825+269G>A single nucleotide variant not provided [RCV001687116] Chr18:58391828 [GRCh38]
Chr18:56059060 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.49-16047C>A single nucleotide variant not provided [RCV001598499] Chr18:58149741 [GRCh38]
Chr18:55816973 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2256+39A>G single nucleotide variant not provided [RCV001598552] Chr18:58370506 [GRCh38]
Chr18:56037738 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.48+81C>G single nucleotide variant not provided [RCV001638310] Chr18:58044789 [GRCh38]
Chr18:55712021 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2655+254G>A single nucleotide variant not provided [RCV001618142] Chr18:58389446 [GRCh38]
Chr18:56056678 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2256+150A>G single nucleotide variant not provided [RCV001677242] Chr18:58370617 [GRCh38]
Chr18:56037849 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2488-186G>A single nucleotide variant not provided [RCV001677408] Chr18:58387253 [GRCh38]
Chr18:56054485 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.580C>T (p.Pro194Ser) single nucleotide variant Inborn genetic diseases [RCV002555858]|NEDD4L-related condition [RCV003918662]|not provided [RCV001066805] Chr18:58325062 [GRCh38]
Chr18:55992294 [GRCh37]
Chr18:18q21.31		 benign|likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.2245A>G (p.Met749Val) single nucleotide variant Periventricular nodular heterotopia 7 [RCV001031004] Chr18:58370456 [GRCh38]
Chr18:56037688 [GRCh37]
Chr18:18q21.31		 likely pathogenic
NM_001144967.3(NEDD4L):c.1576-131_1576-130dup duplication not provided [RCV001613783] Chr18:58349404..58349405 [GRCh38]
Chr18:56016636..56016637 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2487+274G>A single nucleotide variant not provided [RCV001587146] Chr18:58385860 [GRCh38]
Chr18:56053092 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.-26C>T single nucleotide variant not provided [RCV001695848] Chr18:58044635 [GRCh38]
Chr18:55711867 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1709-12del deletion not provided [RCV001652839] Chr18:58357165 [GRCh38]
Chr18:56024397 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.49-16185C>T single nucleotide variant not provided [RCV001710548] Chr18:58149603 [GRCh38]
Chr18:55816835 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.411-63C>A single nucleotide variant not provided [RCV001611693] Chr18:58323169 [GRCh38]
Chr18:55990401 [GRCh37]
Chr18:18q21.31		 benign
NC_000018.10:g.58044064C>A single nucleotide variant not provided [RCV001645992] Chr18:58044064 [GRCh38]
Chr18:55711296 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.244-42G>A single nucleotide variant not provided [RCV001684603] Chr18:58251959 [GRCh38]
Chr18:55919191 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2826-246C>T single nucleotide variant not provided [RCV001615543] Chr18:58395921 [GRCh38]
Chr18:56063153 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.49-16691G>A single nucleotide variant not provided [RCV001611471] Chr18:58149097 [GRCh38]
Chr18:55816329 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.812A>C (p.Glu271Ala) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002482081]|not provided [RCV001064368] Chr18:58329126 [GRCh38]
Chr18:55996358 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.244-34C>T single nucleotide variant not provided [RCV001708792] Chr18:58251967 [GRCh38]
Chr18:55919199 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2826-211G>A single nucleotide variant not provided [RCV001545455] Chr18:58395956 [GRCh38]
Chr18:56063188 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2548-219G>A single nucleotide variant not provided [RCV001615648] Chr18:58388866 [GRCh38]
Chr18:56056098 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.914A>G (p.Gln305Arg) single nucleotide variant Periventricular nodular heterotopia 7 [RCV001004725] Chr18:58330838 [GRCh38]
Chr18:55998070 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1138T>C (p.Tyr380His) single nucleotide variant not provided [RCV001059637] Chr18:58341050 [GRCh38]
Chr18:56008282 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2063+6T>C single nucleotide variant NEDD4L-related condition [RCV003928686]|not provided [RCV001060021] Chr18:58366234 [GRCh38]
Chr18:56033466 [GRCh37]
Chr18:18q21.31		 benign|likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.1258-82GTT[2] microsatellite not provided [RCV001645544] Chr18:58341596..58341598 [GRCh38]
Chr18:56008828..56008830 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1027G>A (p.Val343Ile) single nucleotide variant not provided [RCV001231274] Chr18:58333854 [GRCh38]
Chr18:56001086 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.546G>A (p.Ser182=) single nucleotide variant not provided [RCV001219786] Chr18:58325028 [GRCh38]
Chr18:55992260 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.1494C>G (p.Phe498Leu) single nucleotide variant not provided [RCV001067693] Chr18:58343022 [GRCh38]
Chr18:56010254 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1151C>G (p.Thr384Arg) single nucleotide variant not provided [RCV001040059] Chr18:58341063 [GRCh38]
Chr18:56008295 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.29A>G (p.Tyr10Cys) single nucleotide variant not provided [RCV001235833] Chr18:58044689 [GRCh38]
Chr18:55711921 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.910C>T (p.Pro304Ser) single nucleotide variant not provided [RCV001049340] Chr18:58330834 [GRCh38]
Chr18:55998066 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.566A>G (p.Glu189Gly) single nucleotide variant not provided [RCV001041533] Chr18:58325048 [GRCh38]
Chr18:55992280 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.2240A>G (p.Asn747Ser) single nucleotide variant Inborn genetic diseases [RCV003163511]|not provided [RCV001201659] Chr18:58370451 [GRCh38]
Chr18:56037683 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.1274C>T (p.Ala425Val) single nucleotide variant not provided [RCV001034475] Chr18:58341694 [GRCh38]
Chr18:56008926 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.526G>A (p.Val176Ile) single nucleotide variant not provided [RCV001034488] Chr18:58325008 [GRCh38]
Chr18:55992240 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1636G>A (p.Asp546Asn) single nucleotide variant not provided [RCV001034495] Chr18:58349597 [GRCh38]
Chr18:56016829 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1033G>A (p.Asp345Asn) single nucleotide variant Inborn genetic diseases [RCV002553731]|Periventricular nodular heterotopia 7 [RCV002505596]|not provided [RCV001050920] Chr18:58333860 [GRCh38]
Chr18:56001092 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.2306C>T (p.Thr769Ile) single nucleotide variant not provided [RCV001070905] Chr18:58373223 [GRCh38]
Chr18:56040455 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1279G>A (p.Gly427Arg) single nucleotide variant Inborn genetic diseases [RCV002553266]|Periventricular nodular heterotopia 7 [RCV003492214]|not provided [RCV001051788] Chr18:58341699 [GRCh38]
Chr18:56008931 [GRCh37]
Chr18:18q21.31		 benign|likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.2205T>G (p.Phe735Leu) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002484278]|not provided [RCV001234127] Chr18:58370416 [GRCh38]
Chr18:56037648 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.459G>A (p.Met153Ile) single nucleotide variant not provided [RCV001045049] Chr18:58323280 [GRCh38]
Chr18:55990512 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1530C>G (p.Asn510Lys) single nucleotide variant not provided [RCV001207072] Chr18:58343058 [GRCh38]
Chr18:56010290 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2759A>G (p.Asn920Ser) single nucleotide variant not provided [RCV001037339] Chr18:58391493 [GRCh38]
Chr18:56058725 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.328G>C (p.Val110Leu) single nucleotide variant not provided [RCV001214973] Chr18:58316012 [GRCh38]
Chr18:55983244 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.884C>A (p.Pro295Gln) single nucleotide variant not provided [RCV001219442] Chr18:58330808 [GRCh38]
Chr18:55998040 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.901C>T (p.Arg301Trp) single nucleotide variant not provided [RCV001065264] Chr18:58330825 [GRCh38]
Chr18:55998057 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.496C>G (p.Gln166Glu) single nucleotide variant not provided [RCV001232939] Chr18:58323317 [GRCh38]
Chr18:55990549 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1483A>G (p.Thr495Ala) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002481931]|not provided [RCV001046981] Chr18:58343011 [GRCh38]
Chr18:56010243 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.568C>T (p.Leu190Phe) single nucleotide variant Inborn genetic diseases [RCV002551348]|not provided [RCV001036110] Chr18:58325050 [GRCh38]
Chr18:55992282 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.2044C>T (p.Leu682Phe) single nucleotide variant not provided [RCV001036196] Chr18:58366209 [GRCh38]
Chr18:56033441 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.572CTC[5] (p.Pro194dup) microsatellite not provided [RCV001038173] Chr18:58325051..58325052 [GRCh38]
Chr18:55992283..55992284 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2402A>G (p.Asn801Ser) single nucleotide variant not provided [RCV001214420] Chr18:58383295 [GRCh38]
Chr18:56050527 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.547G>A (p.Ala183Thr) single nucleotide variant not provided [RCV001034144] Chr18:58325029 [GRCh38]
Chr18:55992261 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.447A>T (p.Lys149Asn) single nucleotide variant not provided [RCV001034178] Chr18:58323268 [GRCh38]
Chr18:55990500 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.935G>A (p.Ser312Asn) single nucleotide variant not provided [RCV001034251] Chr18:58330859 [GRCh38]
Chr18:55998091 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2541G>C (p.Glu847Asp) single nucleotide variant not provided [RCV001034352] Chr18:58387492 [GRCh38]
Chr18:56054724 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.791C>T (p.Ser264Leu) single nucleotide variant not provided [RCV001034362] Chr18:58329105 [GRCh38]
Chr18:55996337 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.97G>A (p.Ala33Thr) single nucleotide variant not provided [RCV001034374] Chr18:58165836 [GRCh38]
Chr18:55833068 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.137A>G (p.Lys46Arg) single nucleotide variant not provided [RCV001034514] Chr18:58245441 [GRCh38]
Chr18:55912673 [GRCh37]
Chr18:18q21.31		 benign
GRCh37/hg19 18q21.31(chr18:55349134-55808073)x3 copy number gain not provided [RCV001258876] Chr18:55349134..55808073 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q21.31(chr18:55040694-55858630)x3 copy number gain not provided [RCV001258877] Chr18:55040694..55858630 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1709-13_1709-12del deletion not provided [RCV001641769] Chr18:58357165..58357166 [GRCh38]
Chr18:56024397..56024398 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.754C>T (p.Arg252Cys) single nucleotide variant Periventricular nodular heterotopia 7 [RCV001334842]|not provided [RCV003708598] Chr18:58329068 [GRCh38]
Chr18:55996300 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.298-4A>G single nucleotide variant not provided [RCV001304452] Chr18:58315978 [GRCh38]
Chr18:55983210 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.681-5C>G single nucleotide variant not provided [RCV001348725] Chr18:58328990 [GRCh38]
Chr18:55996222 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.513+14G>A single nucleotide variant not provided [RCV001527750] Chr18:58323348 [GRCh38]
Chr18:55990580 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.719T>A (p.Ile240Asn) single nucleotide variant Periventricular nodular heterotopia 7 [RCV001332917] Chr18:58329033 [GRCh38]
Chr18:55996265 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001144967.3(NEDD4L):c.1576-213C>T single nucleotide variant not provided [RCV001572366] Chr18:58349324 [GRCh38]
Chr18:56016556 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2484G>A (p.Leu828=) single nucleotide variant not provided [RCV001297414] Chr18:58385583 [GRCh38]
Chr18:56052815 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.718A>G (p.Ile240Val) single nucleotide variant not provided [RCV001339352] Chr18:58329032 [GRCh38]
Chr18:55996264 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2798C>G (p.Pro933Arg) single nucleotide variant not provided [RCV001317763] Chr18:58391532 [GRCh38]
Chr18:56058764 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2244C>G (p.Asp748Glu) single nucleotide variant not provided [RCV001299424] Chr18:58370455 [GRCh38]
Chr18:56037687 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1006T>C (p.Ser336Pro) single nucleotide variant not provided [RCV001308989] Chr18:58333833 [GRCh38]
Chr18:56001065 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_55225777)_(56940458_?)del deletion not provided [RCV001339457] Chr18:55225777..56940458 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance
NC_000018.9:g.(?_56018213)_(56063501_?)dup duplication not provided [RCV001339458] Chr18:56018213..56063501 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.902G>A (p.Arg301Gln) single nucleotide variant not provided [RCV001298829] Chr18:58330826 [GRCh38]
Chr18:55998058 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.1217A>G (p.His406Arg) single nucleotide variant not provided [RCV001309431] Chr18:58341129 [GRCh38]
Chr18:56008361 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.1850G>A (p.Arg617Lys) single nucleotide variant not provided [RCV001312884] Chr18:58366015 [GRCh38]
Chr18:56033247 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.868G>A (p.Ala290Thr) single nucleotide variant not provided [RCV001343604] Chr18:58330792 [GRCh38]
Chr18:55998024 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.508A>G (p.Met170Val) single nucleotide variant not provided [RCV001309410] Chr18:58323329 [GRCh38]
Chr18:55990561 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.811G>A (p.Glu271Lys) single nucleotide variant not provided [RCV001313844] Chr18:58329125 [GRCh38]
Chr18:55996357 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.1224T>A (p.Asn408Lys) single nucleotide variant not provided [RCV001363112] Chr18:58341136 [GRCh38]
Chr18:56008368 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.744C>A (p.Arg248=) single nucleotide variant not provided [RCV001414308] Chr18:58329058 [GRCh38]
Chr18:55996290 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.306C>T (p.Asp102=) single nucleotide variant not provided [RCV001433385] Chr18:58315990 [GRCh38]
Chr18:55983222 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1767+9T>A single nucleotide variant not provided [RCV001415176] Chr18:58357261 [GRCh38]
Chr18:56024493 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1567A>G (p.Thr523Ala) single nucleotide variant not provided [RCV001327078] Chr18:58343095 [GRCh38]
Chr18:56010327 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.327C>A (p.Asp109Glu) single nucleotide variant not provided [RCV001368754] Chr18:58316011 [GRCh38]
Chr18:55983243 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2568T>C (p.Gly856=) single nucleotide variant not provided [RCV001395060] Chr18:58389105 [GRCh38]
Chr18:56056337 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.592G>A (p.Gly198Arg) single nucleotide variant not provided [RCV001422369] Chr18:58325074 [GRCh38]
Chr18:55992306 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1607T>G (p.Met536Arg) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002493808]|not provided [RCV001351219] Chr18:58349568 [GRCh38]
Chr18:56016800 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1145A>G (p.His382Arg) single nucleotide variant not provided [RCV001305836] Chr18:58341057 [GRCh38]
Chr18:56008289 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1275G>A (p.Ala425=) single nucleotide variant not provided [RCV001392605] Chr18:58341695 [GRCh38]
Chr18:56008927 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.951C>G (p.Ile317Met) single nucleotide variant not provided [RCV001373472] Chr18:58330875 [GRCh38]
Chr18:55998107 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.429G>T (p.Lys143Asn) single nucleotide variant not provided [RCV001372949] Chr18:58323250 [GRCh38]
Chr18:55990482 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2352+148T>C single nucleotide variant not provided [RCV001538223] Chr18:58373417 [GRCh38]
Chr18:56040649 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.490A>G (p.Ser164Gly) single nucleotide variant not provided [RCV001306334] Chr18:58323311 [GRCh38]
Chr18:55990543 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.150_164dup (p.Val51_Asn55dup) duplication not provided [RCV001369434] Chr18:58245452..58245453 [GRCh38]
Chr18:55912684..55912685 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.482A>G (p.Glu161Gly) single nucleotide variant not provided [RCV001301616]|not specified [RCV003331109] Chr18:58323303 [GRCh38]
Chr18:55990535 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.450G>T (p.Met150Ile) single nucleotide variant NEDD4L-related condition [RCV003953661]|not provided [RCV001322955] Chr18:58323271 [GRCh38]
Chr18:55990503 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.545C>T (p.Ser182Leu) single nucleotide variant not provided [RCV001343847] Chr18:58325027 [GRCh38]
Chr18:55992259 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1898G>A (p.Arg633Gln) single nucleotide variant not provided [RCV001360801] Chr18:58366063 [GRCh38]
Chr18:56033295 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2161G>A (p.Val721Ile) single nucleotide variant not provided [RCV001362994] Chr18:58367843 [GRCh38]
Chr18:56035075 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.2465A>C (p.Lys822Thr) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002499626]|not provided [RCV001322055] Chr18:58385564 [GRCh38]
Chr18:56052796 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1538C>T (p.Pro513Leu) single nucleotide variant not provided [RCV001367568] Chr18:58343066 [GRCh38]
Chr18:56010298 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2113G>A (p.Asp705Asn) single nucleotide variant not provided [RCV001373988] Chr18:58367795 [GRCh38]
Chr18:56035027 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.544T>C (p.Ser182Pro) single nucleotide variant not provided [RCV001345121] Chr18:58325026 [GRCh38]
Chr18:55992258 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.445A>G (p.Lys149Glu) single nucleotide variant not provided [RCV001346197] Chr18:58323266 [GRCh38]
Chr18:55990498 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_55710610)_56069772del deletion not provided [RCV001374223]   uncertain significance
NC_000018.9:g.(?_55983194)_(56033480_?)dup duplication not provided [RCV001374224] Chr18:55983194..56033480 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2476G>A (p.Ala826Thr) single nucleotide variant not provided [RCV001347526] Chr18:58385575 [GRCh38]
Chr18:56052807 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.337A>T (p.Ser113Cys) single nucleotide variant not provided [RCV001323472] Chr18:58316021 [GRCh38]
Chr18:55983253 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.814-6T>A single nucleotide variant Periventricular nodular heterotopia 7 [RCV002245299] Chr18:58330732 [GRCh38]
Chr18:55997964 [GRCh37]
Chr18:18q21.31		 likely pathogenic
NM_001144967.3(NEDD4L):c.2890del (p.Ala964fs) deletion not provided [RCV001301068] Chr18:58396230 [GRCh38]
Chr18:56063462 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_55225777)_(56940458_?)dup duplication not provided [RCV001323676] Chr18:55225777..56940458 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance
NM_001144967.3(NEDD4L):c.673A>G (p.Ser225Gly) single nucleotide variant not provided [RCV001343305] Chr18:58325155 [GRCh38]
Chr18:55992387 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1634A>G (p.Asn545Ser) single nucleotide variant not provided [RCV001363889] Chr18:58349595 [GRCh38]
Chr18:56016827 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_001144967.3(NEDD4L):c.911C>T (p.Pro304Leu) single nucleotide variant not provided [RCV001295794] Chr18:58330835 [GRCh38]
Chr18:55998067 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NM_001144967.3(NEDD4L):c.861C>T (p.Leu287=) single nucleotide variant not provided [RCV001413436] Chr18:58330785 [GRCh38]
Chr18:55998017 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1877A>C (p.Asn626Thr) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002504440]|not provided [RCV001297808] Chr18:58366042 [GRCh38]
Chr18:56033274 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1510G>A (p.Glu504Lys) single nucleotide variant not provided [RCV001366771] Chr18:58343038 [GRCh38]
Chr18:56010270 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_55833010)_(55833103_?)del deletion not provided [RCV001296323] Chr18:55833010..55833103 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1045G>C (p.Glu349Gln) single nucleotide variant not provided [RCV001318637] Chr18:58333872 [GRCh38]
Chr18:56001104 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.42A>G (p.Glu14=) single nucleotide variant not provided [RCV001394702] Chr18:58044702 [GRCh38]
Chr18:55711934 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1352C>T (p.Thr451Ile) single nucleotide variant not provided [RCV001338254] Chr18:58341772 [GRCh38]
Chr18:56009004 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.356A>G (p.Asp119Gly) single nucleotide variant not provided [RCV001340938] Chr18:58322432 [GRCh38]
Chr18:55989664 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1767+1G>A single nucleotide variant not provided [RCV001351244] Chr18:58357253 [GRCh38]
Chr18:56024485 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.990+9del deletion not provided [RCV001298607] Chr18:58330923 [GRCh38]
Chr18:55998155 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2655+6_2655+7insTTAACT insertion not provided [RCV001413071] Chr18:58389193..58389194 [GRCh38]
Chr18:56056425..56056426 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2342A>C (p.Asn781Thr) single nucleotide variant not provided [RCV001352221] Chr18:58373259 [GRCh38]
Chr18:56040491 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.348+9A>G single nucleotide variant Periventricular nodular heterotopia 7 [RCV002495617]|not provided [RCV001441188] Chr18:58316041 [GRCh38]
Chr18:55983273 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2509A>G (p.Ile837Val) single nucleotide variant not provided [RCV001522521] Chr18:58387460 [GRCh38]
Chr18:56054692 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.514-5C>T single nucleotide variant not provided [RCV001425108] Chr18:58324991 [GRCh38]
Chr18:55992223 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2424C>T (p.Ile808=) single nucleotide variant not provided [RCV001496292] Chr18:58383317 [GRCh38]
Chr18:56050549 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.48+7G>A single nucleotide variant not provided [RCV001473683] Chr18:58044715 [GRCh38]
Chr18:55711947 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1032C>T (p.Thr344=) single nucleotide variant not provided [RCV001503394] Chr18:58333859 [GRCh38]
Chr18:56001091 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.183C>T (p.Val61=) single nucleotide variant not provided [RCV001469108] Chr18:58245487 [GRCh38]
Chr18:55912719 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1395C>A (p.Pro465=) single nucleotide variant not provided [RCV001439390] Chr18:58342923 [GRCh38]
Chr18:56010155 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2202A>G (p.Pro734=) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002501713]|not provided [RCV001497735] Chr18:58370413 [GRCh38]
Chr18:56037645 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.38C>G (p.Ser13Cys) single nucleotide variant not provided [RCV001400905] Chr18:58044698 [GRCh38]
Chr18:55711930 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1533_1534delinsAA (p.Gly511_Arg512=) indel not provided [RCV001439937] Chr18:58343061..58343062 [GRCh38]
Chr18:56010293..56010294 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.791C>G (p.Ser264Trp) single nucleotide variant not provided [RCV001489468] Chr18:58329105 [GRCh38]
Chr18:55996337 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2697G>A (p.Leu899=) single nucleotide variant not provided [RCV001491784] Chr18:58390687 [GRCh38]
Chr18:56057919 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.96C>T (p.Leu32=) single nucleotide variant not provided [RCV001484607] Chr18:58165835 [GRCh38]
Chr18:55833067 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1576-9T>G single nucleotide variant not provided [RCV001470402] Chr18:58349528 [GRCh38]
Chr18:56016760 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2684G>T (p.Arg895Leu) single nucleotide variant not provided [RCV001456226] Chr18:58390674 [GRCh38]
Chr18:56057906 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2655+10G>C single nucleotide variant not provided [RCV001489860] Chr18:58389202 [GRCh38]
Chr18:56056434 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.996A>G (p.Arg332=) single nucleotide variant not provided [RCV001411996] Chr18:58333823 [GRCh38]
Chr18:56001055 [GRCh37]
Chr18:18q21.31		 likely benign
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_001144967.3(NEDD4L):c.680+9C>T single nucleotide variant not provided [RCV001440990] Chr18:58325171 [GRCh38]
Chr18:55992403 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1398A>G (p.Val466=) single nucleotide variant not provided [RCV001429155] Chr18:58342926 [GRCh38]
Chr18:56010158 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.390C>T (p.Asp130=) single nucleotide variant NEDD4L-related condition [RCV003908579]|not provided [RCV001403650] Chr18:58322466 [GRCh38]
Chr18:55989698 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2073C>T (p.Tyr691=) single nucleotide variant not provided [RCV001405729] Chr18:58367755 [GRCh38]
Chr18:56034987 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1930C>T (p.Leu644=) single nucleotide variant not provided [RCV001444624] Chr18:58366095 [GRCh38]
Chr18:56033327 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1647C>G (p.Pro549=) single nucleotide variant not provided [RCV001444647] Chr18:58349608 [GRCh38]
Chr18:56016840 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1888G>C (p.Glu630Gln) single nucleotide variant Periventricular nodular heterotopia 7 [RCV001420613] Chr18:58366053 [GRCh38]
Chr18:56033285 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2742C>T (p.Ala914=) single nucleotide variant not provided [RCV001431351] Chr18:58390732 [GRCh38]
Chr18:56057964 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.129G>A (p.Pro43=) single nucleotide variant not provided [RCV001442621] Chr18:58245433 [GRCh38]
Chr18:55912665 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2655+8C>T single nucleotide variant not provided [RCV001440151] Chr18:58389200 [GRCh38]
Chr18:56056432 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.145T>C (p.Leu49=) single nucleotide variant not provided [RCV001408764] Chr18:58245449 [GRCh38]
Chr18:55912681 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.49-54G>A single nucleotide variant not provided [RCV001535227] Chr18:58165734 [GRCh38]
Chr18:55832966 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2820C>T (p.His940=) single nucleotide variant not provided [RCV001445872] Chr18:58391554 [GRCh38]
Chr18:56058786 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2289C>T (p.Ile763=) single nucleotide variant not provided [RCV001505232] Chr18:58373206 [GRCh38]
Chr18:56040438 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.991-8C>T single nucleotide variant not provided [RCV001489895] Chr18:58333810 [GRCh38]
Chr18:56001042 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2892C>G (p.Ala964=) single nucleotide variant not provided [RCV001498862] Chr18:58396233 [GRCh38]
Chr18:56063465 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2487+298A>C single nucleotide variant not provided [RCV001614977] Chr18:58385884 [GRCh38]
Chr18:56053116 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.48+263C>T single nucleotide variant not provided [RCV001617181] Chr18:58044971 [GRCh38]
Chr18:55712203 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.49-203C>G single nucleotide variant not provided [RCV001586627] Chr18:58165585 [GRCh38]
Chr18:55832817 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.789C>T (p.Pro263=) single nucleotide variant not provided [RCV001496464] Chr18:58329103 [GRCh38]
Chr18:55996335 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.842A>T (p.Asn281Ile) single nucleotide variant NEDD4L-related condition [RCV003965960]|not provided [RCV001476329] Chr18:58330766 [GRCh38]
Chr18:55997998 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1378-3T>C single nucleotide variant not provided [RCV001512024] Chr18:58342903 [GRCh38]
Chr18:56010135 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.48+251G>C single nucleotide variant not provided [RCV001686601] Chr18:58044959 [GRCh38]
Chr18:55712191 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1708+11G>A single nucleotide variant not provided [RCV001693522] Chr18:58351056 [GRCh38]
Chr18:56018288 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.813+13del deletion not provided [RCV001516788] Chr18:58329137 [GRCh38]
Chr18:55996369 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2256+189C>G single nucleotide variant not provided [RCV001652228] Chr18:58370656 [GRCh38]
Chr18:56037888 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2257-163_2257-159dup duplication not provided [RCV001715621] Chr18:58373010..58373011 [GRCh38]
Chr18:56040242..56040243 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2426+244A>G single nucleotide variant not provided [RCV001609480] Chr18:58383563 [GRCh38]
Chr18:56050795 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.48+28A>C single nucleotide variant not provided [RCV001616130] Chr18:58044736 [GRCh38]
Chr18:55711968 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2186-4T>G single nucleotide variant not provided [RCV001512922] Chr18:58370393 [GRCh38]
Chr18:56037625 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.814-36_814-33del microsatellite not provided [RCV001650603] Chr18:58330698..58330701 [GRCh38]
Chr18:55997930..55997933 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1503C>T (p.Pro501=) single nucleotide variant not provided [RCV001460643] Chr18:58343031 [GRCh38]
Chr18:56010263 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1491C>T (p.Ser497=) single nucleotide variant not provided [RCV001471330] Chr18:58343019 [GRCh38]
Chr18:56010251 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.768C>T (p.Ser256=) single nucleotide variant not provided [RCV001523558] Chr18:58329082 [GRCh38]
Chr18:55996314 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.349-5C>T single nucleotide variant not provided [RCV001489333] Chr18:58322420 [GRCh38]
Chr18:55989652 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1881A>C (p.Ile627=) single nucleotide variant not provided [RCV001442046] Chr18:58366046 [GRCh38]
Chr18:56033278 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1139A>T (p.Tyr380Phe) single nucleotide variant not provided [RCV001518614] Chr18:58341051 [GRCh38]
Chr18:56008283 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1653+9A>G single nucleotide variant not provided [RCV001399588] Chr18:58349623 [GRCh38]
Chr18:56016855 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.603A>G (p.Glu201=) single nucleotide variant not provided [RCV001442738] Chr18:58325085 [GRCh38]
Chr18:55992317 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.749G>A (p.Arg250His) single nucleotide variant Inborn genetic diseases [RCV002562680]|not provided [RCV001481667] Chr18:58329063 [GRCh38]
Chr18:55996295 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.2742C>G (p.Ala914=) single nucleotide variant not provided [RCV001477480] Chr18:58390732 [GRCh38]
Chr18:56057964 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.363C>G (p.Thr121=) single nucleotide variant not provided [RCV001423272] Chr18:58322439 [GRCh38]
Chr18:55989671 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1576-5T>C single nucleotide variant not provided [RCV001419815] Chr18:58349532 [GRCh38]
Chr18:56016764 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.204+9C>T single nucleotide variant not provided [RCV001503671] Chr18:58245517 [GRCh38]
Chr18:55912749 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1539C>T (p.Pro513=) single nucleotide variant not provided [RCV001417634] Chr18:58343067 [GRCh38]
Chr18:56010299 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.591C>T (p.Pro197=) single nucleotide variant not provided [RCV001496868] Chr18:58325073 [GRCh38]
Chr18:55992305 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.558C>T (p.His186=) single nucleotide variant not provided [RCV001454850] Chr18:58325040 [GRCh38]
Chr18:55992272 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1607T>C (p.Met536Thr) single nucleotide variant not provided [RCV001517966] Chr18:58349568 [GRCh38]
Chr18:56016800 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.270A>G (p.Leu90=) single nucleotide variant not provided [RCV001435270] Chr18:58252027 [GRCh38]
Chr18:55919259 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2399C>A (p.Thr800Lys) single nucleotide variant Autism spectrum disorder [RCV003128044] Chr18:58383292 [GRCh38]
Chr18:56050524 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1576-4G>T single nucleotide variant Periventricular nodular heterotopia 7 [RCV002227655]|not provided [RCV003718451] Chr18:58349533 [GRCh38]
Chr18:56016765 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.1597C>G (p.Pro533Ala) single nucleotide variant not provided [RCV001754601] Chr18:58349558 [GRCh38]
Chr18:56016790 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.23C>T (p.Pro8Leu) single nucleotide variant Periventricular nodular heterotopia 7 [RCV001733670] Chr18:58044683 [GRCh38]
Chr18:55711915 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.847G>C (p.Ala283Pro) single nucleotide variant Periventricular nodular heterotopia 7 [RCV001733671]|not provided [RCV003738094] Chr18:58330771 [GRCh38]
Chr18:55998003 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.338G>T (p.Ser113Ile) single nucleotide variant not provided [RCV001751873] Chr18:58316022 [GRCh38]
Chr18:55983254 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2674G>A (p.Ala892Thr) single nucleotide variant not provided [RCV001786310] Chr18:58390664 [GRCh38]
Chr18:56057896 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.569T>A (p.Leu190His) single nucleotide variant not provided [RCV001764885] Chr18:58325051 [GRCh38]
Chr18:55992283 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1833+42T>G single nucleotide variant not provided [RCV001794695] Chr18:58364375 [GRCh38]
Chr18:56031607 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.514-44C>T single nucleotide variant not provided [RCV001794694] Chr18:58324952 [GRCh38]
Chr18:55992184 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1767+54C>T single nucleotide variant not provided [RCV001756375] Chr18:58357306 [GRCh38]
Chr18:56024538 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.875C>T (p.Pro292Leu) single nucleotide variant Periventricular nodular heterotopia 7 [RCV001809008] Chr18:58330799 [GRCh38]
Chr18:55998031 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.191A>C (p.Lys64Thr) single nucleotide variant not provided [RCV001950182] Chr18:58245495 [GRCh38]
Chr18:55912727 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_001144967.3(NEDD4L):c.49-16G>T single nucleotide variant not provided [RCV002007548] Chr18:58165772 [GRCh38]
Chr18:55833004 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.452C>T (p.Ala151Val) single nucleotide variant not provided [RCV002003856] Chr18:58323273 [GRCh38]
Chr18:55990505 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.470G>C (p.Gly157Ala) single nucleotide variant not provided [RCV001892991] Chr18:58323291 [GRCh38]
Chr18:55990523 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2242G>A (p.Asp748Asn) single nucleotide variant not provided [RCV002006271] Chr18:58370453 [GRCh38]
Chr18:56037685 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.515A>G (p.His172Arg) single nucleotide variant not provided [RCV001915083] Chr18:58324997 [GRCh38]
Chr18:55992229 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.799G>A (p.Gly267Arg) single nucleotide variant not provided [RCV001927538] Chr18:58329113 [GRCh38]
Chr18:55996345 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.347C>T (p.Pro116Leu) single nucleotide variant not provided [RCV001874390] Chr18:58316031 [GRCh38]
Chr18:55983263 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.2352+6T>C single nucleotide variant not provided [RCV002041599] Chr18:58373275 [GRCh38]
Chr18:56040507 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1709A>G (p.Asn570Ser) single nucleotide variant not provided [RCV001965533] Chr18:58357194 [GRCh38]
Chr18:56024426 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2547+1G>A single nucleotide variant not provided [RCV001986737] Chr18:58387499 [GRCh38]
Chr18:56054731 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 pathogenic
NM_001144967.3(NEDD4L):c.1592A>G (p.Lys531Arg) single nucleotide variant Developmental disorder [RCV001843794] Chr18:58349553 [GRCh38]
Chr18:56016785 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.373C>A (p.Pro125Thr) single nucleotide variant not provided [RCV002004367] Chr18:58322449 [GRCh38]
Chr18:55989681 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_55217944)_(58039582_?)del deletion not provided [RCV003120789] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32		 pathogenic|uncertain significance
NM_001144967.3(NEDD4L):c.2227C>G (p.Gln743Glu) single nucleotide variant not provided [RCV001928807] Chr18:58370438 [GRCh38]
Chr18:56037670 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
NM_001144967.3(NEDD4L):c.2453A>T (p.Asn818Ile) single nucleotide variant not provided [RCV002044422] Chr18:58385552 [GRCh38]
Chr18:56052784 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.826A>G (p.Ile276Val) single nucleotide variant not provided [RCV001893333] Chr18:58330750 [GRCh38]
Chr18:55997982 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1294A>G (p.Ser432Gly) single nucleotide variant not provided [RCV002005606] Chr18:58341714 [GRCh38]
Chr18:56008946 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.991-20G>T single nucleotide variant not provided [RCV001985725] Chr18:58333798 [GRCh38]
Chr18:56001030 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.885G>A (p.Pro295=) single nucleotide variant not provided [RCV002043687] Chr18:58330809 [GRCh38]
Chr18:55998041 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001144967.3(NEDD4L):c.1504G>A (p.Gly502Ser) single nucleotide variant not provided [RCV001887642] Chr18:58343032 [GRCh38]
Chr18:56010264 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2780T>C (p.Ile927Thr) single nucleotide variant not provided [RCV002038479] Chr18:58391514 [GRCh38]
Chr18:56058746 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2123C>T (p.Ser708Phe) single nucleotide variant not provided [RCV001916581] Chr18:58367805 [GRCh38]
Chr18:56035037 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.613A>G (p.Asn205Asp) single nucleotide variant not provided [RCV001975429] Chr18:58325095 [GRCh38]
Chr18:55992327 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2887A>T (p.Met963Leu) single nucleotide variant not provided [RCV001885957] Chr18:58396228 [GRCh38]
Chr18:56063460 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.742C>T (p.Arg248Cys) single nucleotide variant not provided [RCV001885980] Chr18:58329056 [GRCh38]
Chr18:55996288 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.572CTC[3] (p.Pro194del) microsatellite not provided [RCV001944344] Chr18:58325052..58325054 [GRCh38]
Chr18:55992284..55992286 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.204+12T>A single nucleotide variant not provided [RCV001956158] Chr18:58245520 [GRCh38]
Chr18:55912752 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1691C>T (p.Thr564Met) single nucleotide variant not provided [RCV002038630] Chr18:58351028 [GRCh38]
Chr18:56018260 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_55833000)_(55833113_?)dup duplication not provided [RCV001982476] Chr18:55833000..55833113 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1660T>C (p.Trp554Arg) single nucleotide variant not provided [RCV001998050] Chr18:58350997 [GRCh38]
Chr18:56018229 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2378A>G (p.Asn793Ser) single nucleotide variant not provided [RCV002019458] Chr18:58383271 [GRCh38]
Chr18:56050503 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1897C>T (p.Arg633Trp) single nucleotide variant Inborn genetic diseases [RCV002551007]|not provided [RCV001962313] Chr18:58366062 [GRCh38]
Chr18:56033294 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1831C>T (p.Pro611Ser) single nucleotide variant not provided [RCV001917567] Chr18:58364331 [GRCh38]
Chr18:56031563 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1709-16T>C single nucleotide variant not provided [RCV001993691] Chr18:58357178 [GRCh38]
Chr18:56024410 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.491G>A (p.Ser164Asn) single nucleotide variant NEDD4L-related condition [RCV003407868]|not provided [RCV001899468] Chr18:58323312 [GRCh38]
Chr18:55990544 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1132G>A (p.Val378Met) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002503433]|not provided [RCV001867587] Chr18:58341044 [GRCh38]
Chr18:56008276 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1126-5_1126-2del deletion not provided [RCV001919713] Chr18:58341030..58341033 [GRCh38]
Chr18:56008262..56008265 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.22C>T (p.Pro8Ser) single nucleotide variant not provided [RCV001921486] Chr18:58044682 [GRCh38]
Chr18:55711914 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.826A>T (p.Ile276Phe) single nucleotide variant not provided [RCV002009734] Chr18:58330750 [GRCh38]
Chr18:55997982 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1501C>G (p.Pro501Ala) single nucleotide variant not provided [RCV002046385] Chr18:58343029 [GRCh38]
Chr18:56010261 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.766A>G (p.Ser256Gly) single nucleotide variant not provided [RCV002014191] Chr18:58329080 [GRCh38]
Chr18:55996312 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.328G>A (p.Val110Met) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002482497]|not provided [RCV001904515] Chr18:58316012 [GRCh38]
Chr18:55983244 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1676A>G (p.His559Arg) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002479820]|not provided [RCV002036049] Chr18:58351013 [GRCh38]
Chr18:56018245 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2566G>A (p.Gly856Ser) single nucleotide variant not provided [RCV001974149] Chr18:58389103 [GRCh38]
Chr18:56056335 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.348G>A (p.Pro116=) single nucleotide variant not provided [RCV001925750] Chr18:58316032 [GRCh38]
Chr18:55983264 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2426+13A>G single nucleotide variant not provided [RCV001939857] Chr18:58383332 [GRCh38]
Chr18:56050564 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.243+3_243+6del deletion not provided [RCV001938040] Chr18:58248938..58248941 [GRCh38]
Chr18:55916170..55916173 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.878C>G (p.Pro293Arg) single nucleotide variant not provided [RCV001919643] Chr18:58330802 [GRCh38]
Chr18:55998034 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.523G>C (p.Glu175Gln) single nucleotide variant not provided [RCV001897044] Chr18:58325005 [GRCh38]
Chr18:55992237 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2215A>G (p.Met739Val) single nucleotide variant not provided [RCV001997350] Chr18:58370426 [GRCh38]
Chr18:56037658 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1715A>G (p.Lys572Arg) single nucleotide variant not provided [RCV001884158] Chr18:58357200 [GRCh38]
Chr18:56024432 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.49G>A (p.Gly17Arg) single nucleotide variant not provided [RCV001922076] Chr18:58165788 [GRCh38]
Chr18:55833020 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_55996962)_(55997971_?)del deletion not provided [RCV001885561] Chr18:55996962..55997971 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.48+6T>C single nucleotide variant not provided [RCV001993546] Chr18:58044714 [GRCh38]
Chr18:55711946 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.48+5G>A single nucleotide variant not provided [RCV002013191] Chr18:58044713 [GRCh38]
Chr18:55711945 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1198C>T (p.Arg400Cys) single nucleotide variant not provided [RCV001903896] Chr18:58341110 [GRCh38]
Chr18:56008342 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.974A>C (p.Gln325Pro) single nucleotide variant not provided [RCV001989388] Chr18:58330898 [GRCh38]
Chr18:55998130 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_55217944)_(58040587_?)dup duplication not provided [RCV001922994] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance
NM_001144967.3(NEDD4L):c.685G>A (p.Val229Met) single nucleotide variant Inborn genetic diseases [RCV002545705]|not provided [RCV002049323] Chr18:58328999 [GRCh38]
Chr18:55996231 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1223A>G (p.Asn408Ser) single nucleotide variant not provided [RCV001996667] Chr18:58341135 [GRCh38]
Chr18:56008367 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.846C>G (p.Ile282Met) single nucleotide variant not provided [RCV001979506] Chr18:58330770 [GRCh38]
Chr18:55998002 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.513+19G>T single nucleotide variant not provided [RCV002071302] Chr18:58323353 [GRCh38]
Chr18:55990585 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.243+12A>G single nucleotide variant Periventricular nodular heterotopia 7 [RCV002500328]|not provided [RCV002146480] Chr18:58248949 [GRCh38]
Chr18:55916181 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1768-12T>C single nucleotide variant Periventricular nodular heterotopia 7 [RCV002494110]|not provided [RCV002206988] Chr18:58364256 [GRCh38]
Chr18:56031488 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.49-8_49-6del deletion not provided [RCV002145209] Chr18:58165778..58165780 [GRCh38]
Chr18:55833010..55833012 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1065+7C>T single nucleotide variant not provided [RCV002165415] Chr18:58333899 [GRCh38]
Chr18:56001131 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2127C>T (p.Tyr709=) single nucleotide variant not provided [RCV002148990] Chr18:58367809 [GRCh38]
Chr18:56035041 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2352+17C>G single nucleotide variant not provided [RCV002075048] Chr18:58373286 [GRCh38]
Chr18:56040518 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2634del (p.Val879fs) deletion not provided [RCV002127539] Chr18:58389168 [GRCh38]
Chr18:56056400 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.410+13_410+14delinsTT indel not provided [RCV002071335] Chr18:58322499..58322500 [GRCh38]
Chr18:55989731..55989732 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1815G>A (p.Arg605=) single nucleotide variant not provided [RCV002104906] Chr18:58364315 [GRCh38]
Chr18:56031547 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2174A>C (p.Lys725Thr) single nucleotide variant not provided [RCV002207050] Chr18:58367856 [GRCh38]
Chr18:56035088 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2257-16C>T single nucleotide variant not provided [RCV002166471] Chr18:58373158 [GRCh38]
Chr18:56040390 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.49-11_49-9del deletion not provided [RCV002075725] Chr18:58165775..58165777 [GRCh38]
Chr18:55833007..55833009 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.680+9C>A single nucleotide variant not provided [RCV002073912] Chr18:58325171 [GRCh38]
Chr18:55992403 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2257-19C>T single nucleotide variant not provided [RCV002127194] Chr18:58373155 [GRCh38]
Chr18:56040387 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2770C>A (p.Leu924Met) single nucleotide variant not provided [RCV002108919] Chr18:58391504 [GRCh38]
Chr18:56058736 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.172C>T (p.Leu58Phe) single nucleotide variant not provided [RCV002209818] Chr18:58245476 [GRCh38]
Chr18:55912708 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.410+33_410+104del deletion not provided [RCV002209034] Chr18:58322501..58322572 [GRCh38]
Chr18:55989733..55989804 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.870T>A (p.Ala290=) single nucleotide variant not provided [RCV002192027] Chr18:58330794 [GRCh38]
Chr18:55998026 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2256+10T>C single nucleotide variant not provided [RCV002185250] Chr18:58370477 [GRCh38]
Chr18:56037709 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2186-13T>A single nucleotide variant not provided [RCV002168974] Chr18:58370384 [GRCh38]
Chr18:56037616 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.991-20G>A single nucleotide variant not provided [RCV002089850] Chr18:58333798 [GRCh38]
Chr18:56001030 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.48+11C>G single nucleotide variant Periventricular nodular heterotopia 7 [RCV002486861]|not provided [RCV002107241] Chr18:58044719 [GRCh38]
Chr18:55711951 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.411-13A>G single nucleotide variant not provided [RCV002169375] Chr18:58323219 [GRCh38]
Chr18:55990451 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.348+18T>G single nucleotide variant not provided [RCV002187414] Chr18:58316050 [GRCh38]
Chr18:55983282 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2353-19T>C single nucleotide variant Periventricular nodular heterotopia 7 [RCV002500150]|not provided [RCV002108396] Chr18:58383227 [GRCh38]
Chr18:56050459 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.411-5T>C single nucleotide variant not provided [RCV002189455] Chr18:58323227 [GRCh38]
Chr18:55990459 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.831A>G (p.Ser277=) single nucleotide variant not provided [RCV002110695] Chr18:58330755 [GRCh38]
Chr18:55997987 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.349-9dup duplication not provided [RCV002132509] Chr18:58322410..58322411 [GRCh38]
Chr18:55989642..55989643 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2685T>C (p.Arg895=) single nucleotide variant not provided [RCV002096174] Chr18:58390675 [GRCh38]
Chr18:56057907 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2547+12A>G single nucleotide variant not provided [RCV002117020] Chr18:58387510 [GRCh38]
Chr18:56054742 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.122+15T>G single nucleotide variant not provided [RCV002194918] Chr18:58165876 [GRCh38]
Chr18:55833108 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1131A>G (p.Ser377=) single nucleotide variant not provided [RCV002214891] Chr18:58341043 [GRCh38]
Chr18:56008275 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.123-3C>T single nucleotide variant not provided [RCV002149652] Chr18:58245424 [GRCh38]
Chr18:55912656 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.48+14C>T single nucleotide variant Periventricular nodular heterotopia 7 [RCV002494428]|not provided [RCV002131241] Chr18:58044722 [GRCh38]
Chr18:55711954 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.1654-16C>T single nucleotide variant not provided [RCV002173108] Chr18:58350975 [GRCh38]
Chr18:56018207 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1678T>C (p.Leu560=) single nucleotide variant not provided [RCV002173906] Chr18:58351015 [GRCh38]
Chr18:56018247 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.991-16T>A single nucleotide variant not provided [RCV002080377] Chr18:58333802 [GRCh38]
Chr18:56001034 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.990+13C>T single nucleotide variant not provided [RCV002114826] Chr18:58330927 [GRCh38]
Chr18:55998159 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2826-1G>A single nucleotide variant not provided [RCV002087236] Chr18:58396166 [GRCh38]
Chr18:56063398 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2488-20del deletion Periventricular nodular heterotopia 7 [RCV002494331]|not provided [RCV002078803] Chr18:58387419 [GRCh38]
Chr18:56054651 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.687G>A (p.Val229=) single nucleotide variant not provided [RCV002213807] Chr18:58329001 [GRCh38]
Chr18:55996233 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.991-17T>C single nucleotide variant not provided [RCV002113234] Chr18:58333801 [GRCh38]
Chr18:56001033 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2136T>C (p.Phe712=) single nucleotide variant not provided [RCV002212652] Chr18:58367818 [GRCh38]
Chr18:56035050 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2353-16G>T single nucleotide variant not provided [RCV002171357] Chr18:58383230 [GRCh38]
Chr18:56050462 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2775T>C (p.Phe925=) single nucleotide variant not provided [RCV002166741] Chr18:58391509 [GRCh38]
Chr18:56058741 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.543C>T (p.Asp181=) single nucleotide variant not provided [RCV002152281] Chr18:58325025 [GRCh38]
Chr18:55992257 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1232C>T (p.Thr411Ile) single nucleotide variant not provided [RCV002207445] Chr18:58341144 [GRCh38]
Chr18:56008376 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2488-9_2488-8del deletion Periventricular nodular heterotopia 7 [RCV002494281]|not provided [RCV002132374] Chr18:58387420..58387421 [GRCh38]
Chr18:56054652..56054653 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.2426+17T>G single nucleotide variant not provided [RCV002174011] Chr18:58383336 [GRCh38]
Chr18:56050568 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2796T>C (p.Ser932=) single nucleotide variant not provided [RCV002213967] Chr18:58391530 [GRCh38]
Chr18:56058762 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1575+13C>T single nucleotide variant Periventricular nodular heterotopia 7 [RCV002498222]|not provided [RCV002212524] Chr18:58343116 [GRCh38]
Chr18:56010348 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.449T>C (p.Met150Thr) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002266104]|not provided [RCV002091494] Chr18:58323270 [GRCh38]
Chr18:55990502 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.2655+18C>T single nucleotide variant not provided [RCV002148130] Chr18:58389210 [GRCh38]
Chr18:56056442 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2062A>G (p.Thr688Ala) single nucleotide variant not provided [RCV002194301] Chr18:58366227 [GRCh38]
Chr18:56033459 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2426+9A>G single nucleotide variant not provided [RCV002114278] Chr18:58383328 [GRCh38]
Chr18:56050560 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.843T>C (p.Asn281=) single nucleotide variant not provided [RCV002073739] Chr18:58330767 [GRCh38]
Chr18:55997999 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2403T>G (p.Asn801Lys) single nucleotide variant not provided [RCV002116647] Chr18:58383296 [GRCh38]
Chr18:56050528 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2355A>T (p.Thr785=) single nucleotide variant not provided [RCV002096847] Chr18:58383248 [GRCh38]
Chr18:56050480 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2353-11T>G single nucleotide variant not provided [RCV002208808] Chr18:58383235 [GRCh38]
Chr18:56050467 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1709-12T>A single nucleotide variant not provided [RCV002168124] Chr18:58357182 [GRCh38]
Chr18:56024414 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2673C>T (p.Asp891=) single nucleotide variant not provided [RCV002076805] Chr18:58390663 [GRCh38]
Chr18:56057895 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1688G>A (p.Arg563Gln) single nucleotide variant not provided [RCV002152538] Chr18:58351025 [GRCh38]
Chr18:56018257 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2487+14G>A single nucleotide variant not provided [RCV002211854] Chr18:58385600 [GRCh38]
Chr18:56052832 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.514-18T>C single nucleotide variant not provided [RCV002174510] Chr18:58324978 [GRCh38]
Chr18:55992210 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.429G>A (p.Lys143=) single nucleotide variant not provided [RCV002095136] Chr18:58323250 [GRCh38]
Chr18:55990482 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.704A>G (p.Asn235Ser) single nucleotide variant not provided [RCV002115670] Chr18:58329018 [GRCh38]
Chr18:55996250 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2388A>G (p.Glu796=) single nucleotide variant not provided [RCV002138615] Chr18:58383281 [GRCh38]
Chr18:56050513 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.621C>T (p.Gly207=) single nucleotide variant not provided [RCV002102062] Chr18:58325103 [GRCh38]
Chr18:55992335 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1734C>T (p.Asp578=) single nucleotide variant not provided [RCV002100497] Chr18:58357219 [GRCh38]
Chr18:56024451 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1708+7A>G single nucleotide variant not provided [RCV002202518] Chr18:58351052 [GRCh38]
Chr18:56018284 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1446A>G (p.Pro482=) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002496142]|not provided [RCV002204304] Chr18:58342974 [GRCh38]
Chr18:56010206 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1257+20A>G single nucleotide variant not provided [RCV002118621] Chr18:58341189 [GRCh38]
Chr18:56008421 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1524G>A (p.Ala508=) single nucleotide variant not provided [RCV002099105] Chr18:58343052 [GRCh38]
Chr18:56010284 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.570T>G (p.Leu190=) single nucleotide variant not provided [RCV002202679] Chr18:58325052 [GRCh38]
Chr18:55992284 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1768-20T>C single nucleotide variant not provided [RCV002200773] Chr18:58364248 [GRCh38]
Chr18:56031480 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.845T>G (p.Ile282Ser) single nucleotide variant not provided [RCV002136795] Chr18:58330769 [GRCh38]
Chr18:55998001 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2063+15A>C single nucleotide variant not provided [RCV002180647] Chr18:58366243 [GRCh38]
Chr18:56033475 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1052G>C (p.Gly351Ala) single nucleotide variant not provided [RCV002122989] Chr18:58333879 [GRCh38]
Chr18:56001111 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1258-10T>C single nucleotide variant not provided [RCV002121125] Chr18:58341668 [GRCh38]
Chr18:56008900 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2426+15A>G single nucleotide variant not provided [RCV002220169] Chr18:58383334 [GRCh38]
Chr18:56050566 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.410+14G>T single nucleotide variant Periventricular nodular heterotopia 7 [RCV002500331]|not provided [RCV002144483] Chr18:58322500 [GRCh38]
Chr18:55989732 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.972A>G (p.Glu324=) single nucleotide variant not provided [RCV002182929] Chr18:58330896 [GRCh38]
Chr18:55998128 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.990+10G>A single nucleotide variant not provided [RCV002182949] Chr18:58330924 [GRCh38]
Chr18:55998156 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2257-13T>C single nucleotide variant not provided [RCV002176081] Chr18:58373161 [GRCh38]
Chr18:56040393 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2353-17T>C single nucleotide variant not provided [RCV002098930] Chr18:58383229 [GRCh38]
Chr18:56050461 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2753-20C>A single nucleotide variant not provided [RCV002142380] Chr18:58391467 [GRCh38]
Chr18:56058699 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1575+11T>G single nucleotide variant not provided [RCV002176711] Chr18:58343114 [GRCh38]
Chr18:56010346 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.513+18G>A single nucleotide variant not provided [RCV002138702] Chr18:58323352 [GRCh38]
Chr18:55990584 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.349-9del deletion Periventricular nodular heterotopia 7 [RCV003228052]|not provided [RCV002099491] Chr18:58322411 [GRCh38]
Chr18:55989643 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.2547+18T>C single nucleotide variant not provided [RCV002162609] Chr18:58387516 [GRCh38]
Chr18:56054748 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2427-17C>T single nucleotide variant not provided [RCV002103257] Chr18:58385509 [GRCh38]
Chr18:56052741 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2257-20A>G single nucleotide variant not provided [RCV002220394] Chr18:58373154 [GRCh38]
Chr18:56040386 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2825+15C>T single nucleotide variant not provided [RCV002101776] Chr18:58391574 [GRCh38]
Chr18:56058806 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2353-11T>C single nucleotide variant not provided [RCV002083500] Chr18:58383235 [GRCh38]
Chr18:56050467 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.49-11C>T single nucleotide variant Periventricular nodular heterotopia 7 [RCV002479884]|not provided [RCV002221052] Chr18:58165777 [GRCh38]
Chr18:55833009 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.882A>G (p.Pro294=) single nucleotide variant not provided [RCV002157173] Chr18:58330806 [GRCh38]
Chr18:55998038 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2753-17T>G single nucleotide variant not provided [RCV002120871] Chr18:58391470 [GRCh38]
Chr18:56058702 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.622C>A (p.Arg208=) single nucleotide variant not provided [RCV002178600] Chr18:58325104 [GRCh38]
Chr18:55992336 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.576T>C (p.Pro192=) single nucleotide variant not provided [RCV002153980] Chr18:58325058 [GRCh38]
Chr18:55992290 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.847G>A (p.Ala283Thr) single nucleotide variant not provided [RCV002158283] Chr18:58330771 [GRCh38]
Chr18:55998003 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.860T>C (p.Leu287Pro) single nucleotide variant not provided [RCV002183354] Chr18:58330784 [GRCh38]
Chr18:55998016 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1923A>T (p.Pro641=) single nucleotide variant not provided [RCV002121826] Chr18:58366088 [GRCh38]
Chr18:56033320 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.48+14C>A single nucleotide variant Periventricular nodular heterotopia 7 [RCV002500008]|not provided [RCV002120233] Chr18:58044722 [GRCh38]
Chr18:55711954 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1833+17T>C single nucleotide variant Periventricular nodular heterotopia 7 [RCV002505872]|not provided [RCV002198509] Chr18:58364350 [GRCh38]
Chr18:56031582 [GRCh37]
Chr18:18q21.31		 benign|likely benign
NM_001144967.3(NEDD4L):c.813+11C>T single nucleotide variant not provided [RCV002082660] Chr18:58329138 [GRCh38]
Chr18:55996370 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2063+20C>T single nucleotide variant not provided [RCV002122355] Chr18:58366248 [GRCh38]
Chr18:56033480 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1654-12C>G single nucleotide variant not provided [RCV002120878] Chr18:58350979 [GRCh38]
Chr18:56018211 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2919G>A (p.Gly973=) single nucleotide variant not provided [RCV002180436] Chr18:58396260 [GRCh38]
Chr18:56063492 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1428C>T (p.Asn476=) single nucleotide variant not provided [RCV002101641] Chr18:58342956 [GRCh38]
Chr18:56010188 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.814-13C>G single nucleotide variant not provided [RCV002144557] Chr18:58330725 [GRCh38]
Chr18:55997957 [GRCh37]
Chr18:18q21.31		 likely benign
NC_000018.9:g.(?_55217944)_(58039582_?)dup duplication Combined immunodeficiency due to MALT1 deficiency [RCV003109569]|not provided [RCV003116545] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance|no classifications from unflagged records
NC_000018.9:g.(?_55217944)_(58040587_?)del deletion Isolated microphthalmia 3 [RCV003116662]|not provided [RCV003116663] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32		 pathogenic|no classifications from unflagged records
NM_001144967.3(NEDD4L):c.1377+9G>T single nucleotide variant not provided [RCV003115421] Chr18:58341806 [GRCh38]
Chr18:56009038 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1910C>A (p.Ser637Tyr) single nucleotide variant not provided [RCV003121651] Chr18:58366075 [GRCh38]
Chr18:56033307 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_55833000)_(56063501_?)del deletion not provided [RCV003119561] Chr18:55833000..56063501 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_55833000)_(55919306_?)dup duplication not provided [RCV003119562] Chr18:55833000..55919306 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_55833000)_(55833113_?)del deletion not provided [RCV003119563] Chr18:55833000..55833113 [GRCh37]
Chr18:18q21.31		 uncertain significance
NC_000018.9:g.(?_56018203)_(56063501_?)dup duplication not provided [RCV003119564] Chr18:56018203..56063501 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2448T>G (p.Phe816Leu) single nucleotide variant not provided [RCV003231656] Chr18:58385547 [GRCh38]
Chr18:56052779 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1437C>G (p.Ser479=) single nucleotide variant not provided [RCV002275532] Chr18:58342965 [GRCh38]
Chr18:56010197 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.572C>G (p.Pro191Arg) single nucleotide variant Periventricular nodular heterotopia 7 [RCV002266841] Chr18:58325054 [GRCh38]
Chr18:55992286 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1402C>T (p.Arg468Trp) single nucleotide variant Seizure [RCV002275465]|not provided [RCV003718469] Chr18:58342930 [GRCh38]
Chr18:56010162 [GRCh37]
Chr18:18q21.31		 likely benign|uncertain significance
NM_001144967.3(NEDD4L):c.49-3119A>G single nucleotide variant Periventricular nodular heterotopia 7 [RCV002276482] Chr18:58162669 [GRCh38]
Chr18:55829901 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1768G>A (p.Ala590Thr) single nucleotide variant not provided [RCV002292188] Chr18:58364268 [GRCh38]
Chr18:56031500 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1534C>T (p.Arg512Trp) single nucleotide variant See cases [RCV002287713] Chr18:58343062 [GRCh38]
Chr18:56010294 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2126A>G (p.Tyr709Cys) single nucleotide variant not provided [RCV002297607] Chr18:58367808 [GRCh38]
Chr18:56035040 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2668A>C (p.Met890Leu) single nucleotide variant not provided [RCV003149317] Chr18:58390658 [GRCh38]
Chr18:56057890 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1654-5A>G single nucleotide variant not provided [RCV002681698] Chr18:58350986 [GRCh38]
Chr18:56018218 [GRCh37]
Chr18:18q21.31		 likely benign
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_001144967.3(NEDD4L):c.1382C>A (p.Ala461Asp) single nucleotide variant not provided [RCV002304598] Chr18:58342910 [GRCh38]
Chr18:56010142 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1769C>T (p.Ala590Val) single nucleotide variant not provided [RCV002303633] Chr18:58364269 [GRCh38]
Chr18:56031501 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2006T>C (p.Phe669Ser) single nucleotide variant not provided [RCV002299733] Chr18:58366171 [GRCh38]
Chr18:56033403 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1144C>A (p.His382Asn) single nucleotide variant not provided [RCV002294933] Chr18:58341056 [GRCh38]
Chr18:56008288 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.669A>T (p.Arg223Ser) single nucleotide variant not provided [RCV002300279] Chr18:58325151 [GRCh38]
Chr18:55992383 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.952A>G (p.Thr318Ala) single nucleotide variant not provided [RCV002297884] Chr18:58330876 [GRCh38]
Chr18:55998108 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2112G>T (p.Glu704Asp) single nucleotide variant not provided [RCV002297926] Chr18:58367794 [GRCh38]
Chr18:56035026 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.868G>T (p.Ala290Ser) single nucleotide variant not provided [RCV003095625] Chr18:58330792 [GRCh38]
Chr18:55998024 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2186-3T>C single nucleotide variant not provided [RCV003074182] Chr18:58370394 [GRCh38]
Chr18:56037626 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1188T>C (p.Asp396=) single nucleotide variant not provided [RCV002842268] Chr18:58341100 [GRCh38]
Chr18:56008332 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1455C>T (p.Tyr485=) single nucleotide variant not provided [RCV002795119] Chr18:58342983 [GRCh38]
Chr18:56010215 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1550A>G (p.Asp517Gly) single nucleotide variant Inborn genetic diseases [RCV002841895] Chr18:58343078 [GRCh38]
Chr18:56010310 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1151C>T (p.Thr384Met) single nucleotide variant not provided [RCV002636220] Chr18:58341063 [GRCh38]
Chr18:56008295 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.410+14G>A single nucleotide variant not provided [RCV002904609] Chr18:58322500 [GRCh38]
Chr18:55989732 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2185+13G>A single nucleotide variant not provided [RCV002819271] Chr18:58367880 [GRCh38]
Chr18:56035112 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.964A>G (p.Asn322Asp) single nucleotide variant not provided [RCV002908099] Chr18:58330888 [GRCh38]
Chr18:55998120 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2352+15C>T single nucleotide variant not provided [RCV002820021] Chr18:58373284 [GRCh38]
Chr18:56040516 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.244-5T>G single nucleotide variant not provided [RCV003016818] Chr18:58251996 [GRCh38]
Chr18:55919228 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2609A>G (p.Lys870Arg) single nucleotide variant not provided [RCV002618632] Chr18:58389146 [GRCh38]
Chr18:56056378 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2022G>A (p.Glu674=) single nucleotide variant not provided [RCV003014797] Chr18:58366187 [GRCh38]
Chr18:56033419 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2400A>G (p.Thr800=) single nucleotide variant not provided [RCV003013522] Chr18:58383293 [GRCh38]
Chr18:56050525 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.638A>G (p.Asn213Ser) single nucleotide variant Periventricular nodular heterotopia 7 [RCV003130751]|not provided [RCV002750119] Chr18:58325120 [GRCh38]
Chr18:55992352 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1325G>T (p.Arg442Leu) single nucleotide variant not provided [RCV002837906] Chr18:58341745 [GRCh38]
Chr18:56008977 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1708+18T>C single nucleotide variant not provided [RCV002995696] Chr18:58351063 [GRCh38]
Chr18:56018295 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.123-16A>T single nucleotide variant not provided [RCV003033887] Chr18:58245411 [GRCh38]
Chr18:55912643 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2256+14C>T single nucleotide variant not provided [RCV002755634] Chr18:58370481 [GRCh38]
Chr18:56037713 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.27C>T (p.Val9=) single nucleotide variant not provided [RCV002995725] Chr18:58044687 [GRCh38]
Chr18:55711919 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.686T>C (p.Val229Ala) single nucleotide variant Inborn genetic diseases [RCV002772464] Chr18:58329000 [GRCh38]
Chr18:55996232 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.48+14C>G single nucleotide variant not provided [RCV002903216] Chr18:58044722 [GRCh38]
Chr18:55711954 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1691C>G (p.Thr564Arg) single nucleotide variant not provided [RCV003011954] Chr18:58351028 [GRCh38]
Chr18:56018260 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.410+3G>A single nucleotide variant not provided [RCV003016574] Chr18:58322489 [GRCh38]
Chr18:55989721 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.667A>G (p.Arg223Gly) single nucleotide variant not provided [RCV003021294] Chr18:58325149 [GRCh38]
Chr18:55992381 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.83C>T (p.Ser28Phe) single nucleotide variant not provided [RCV002824950] Chr18:58165822 [GRCh38]
Chr18:55833054 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1521A>G (p.Ile507Met) single nucleotide variant not provided [RCV002871401] Chr18:58343049 [GRCh38]
Chr18:56010281 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.386A>G (p.Lys129Arg) single nucleotide variant not provided [RCV002914407] Chr18:58322462 [GRCh38]
Chr18:55989694 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.243+15G>A single nucleotide variant not provided [RCV003035937] Chr18:58248952 [GRCh38]
Chr18:55916184 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1620A>G (p.Thr540=) single nucleotide variant not provided [RCV002927112] Chr18:58349581 [GRCh38]
Chr18:56016813 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.513+5G>A single nucleotide variant not provided [RCV002640500] Chr18:58323339 [GRCh38]
Chr18:55990571 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2160C>T (p.Ala720=) single nucleotide variant not provided [RCV002800187] Chr18:58367842 [GRCh38]
Chr18:56035074 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2779A>G (p.Ile927Val) single nucleotide variant not provided [RCV003077453] Chr18:58391513 [GRCh38]
Chr18:56058745 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2826-9C>G single nucleotide variant not provided [RCV002885394] Chr18:58396158 [GRCh38]
Chr18:56063390 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1575+14T>G single nucleotide variant not provided [RCV002976634] Chr18:58343117 [GRCh38]
Chr18:56010349 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2656-8G>C single nucleotide variant not provided [RCV002979287] Chr18:58390638 [GRCh38]
Chr18:56057870 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.15C>T (p.Leu5=) single nucleotide variant not provided [RCV002621213] Chr18:58044675 [GRCh38]
Chr18:55711907 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.204+5G>C single nucleotide variant Inborn genetic diseases [RCV002798514] Chr18:58245513 [GRCh38]
Chr18:55912745 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2826-19C>G single nucleotide variant not provided [RCV003017816] Chr18:58396148 [GRCh38]
Chr18:56063380 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2826-18T>C single nucleotide variant not provided [RCV002659692] Chr18:58396149 [GRCh38]
Chr18:56063381 [GRCh37]
Chr18:18q21.31		 likely benign
NM_015277.5(NEDD4L):c.2367_2379del13 deletion Inborn genetic diseases [RCV002737352] Chr18:58385523..58385535 [GRCh38]
Chr18:56052755..56052767 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2337A>G (p.Glu779=) single nucleotide variant not provided [RCV003038350] Chr18:58373254 [GRCh38]
Chr18:56040486 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.11G>T (p.Gly4Val) single nucleotide variant Inborn genetic diseases [RCV002799080] Chr18:58044671 [GRCh38]
Chr18:55711903 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.127C>T (p.Pro43Ser) single nucleotide variant not provided [RCV003020196] Chr18:58245431 [GRCh38]
Chr18:55912663 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.410+20G>T single nucleotide variant not provided [RCV002795788] Chr18:58322506 [GRCh38]
Chr18:55989738 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2562C>G (p.Gly854=) single nucleotide variant not provided [RCV003021048] Chr18:58389099 [GRCh38]
Chr18:56056331 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.244-10T>C single nucleotide variant not provided [RCV002885882] Chr18:58251991 [GRCh38]
Chr18:55919223 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.990+16del deletion not provided [RCV002621990] Chr18:58330930 [GRCh38]
Chr18:55998162 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1169G>T (p.Gly390Val) single nucleotide variant Inborn genetic diseases [RCV002844571] Chr18:58341081 [GRCh38]
Chr18:56008313 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2063+1G>A single nucleotide variant not provided [RCV002948910] Chr18:58366229 [GRCh38]
Chr18:56033461 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.869C>T (p.Ala290Val) single nucleotide variant not provided [RCV003038064] Chr18:58330793 [GRCh38]
Chr18:55998025 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.122+17T>A single nucleotide variant not provided [RCV002694798] Chr18:58165878 [GRCh38]
Chr18:55833110 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1419C>T (p.Thr473=) single nucleotide variant not provided [RCV002958846] Chr18:58342947 [GRCh38]
Chr18:56010179 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.244-4A>T single nucleotide variant not provided [RCV002852820] Chr18:58251997 [GRCh38]
Chr18:55919229 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2786A>G (p.Gln929Arg) single nucleotide variant not provided [RCV002667470] Chr18:58391520 [GRCh38]
Chr18:56058752 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1051G>C (p.Gly351Arg) single nucleotide variant not provided [RCV003085343] Chr18:58333878 [GRCh38]
Chr18:56001110 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2562C>T (p.Gly854=) single nucleotide variant not provided [RCV002791384] Chr18:58389099 [GRCh38]
Chr18:56056331 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.243+11C>A single nucleotide variant not provided [RCV002668052] Chr18:58248948 [GRCh38]
Chr18:55916180 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2825+9C>T single nucleotide variant not provided [RCV002895046] Chr18:58391568 [GRCh38]
Chr18:56058800 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.39C>G (p.Ser13=) single nucleotide variant not provided [RCV002712152] Chr18:58044699 [GRCh38]
Chr18:55711931 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.990+12C>T single nucleotide variant not provided [RCV002627360] Chr18:58330926 [GRCh38]
Chr18:55998158 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2661G>T (p.Val887=) single nucleotide variant not provided [RCV003007906] Chr18:58390651 [GRCh38]
Chr18:56057883 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.49-11C>G single nucleotide variant not provided [RCV003042163] Chr18:58165777 [GRCh38]
Chr18:55833009 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1354G>A (p.Val452Ile) single nucleotide variant Inborn genetic diseases [RCV002826666] Chr18:58341774 [GRCh38]
Chr18:56009006 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.991-3C>T single nucleotide variant not provided [RCV002642770] Chr18:58333815 [GRCh38]
Chr18:56001047 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2256+15G>A single nucleotide variant not provided [RCV003084091] Chr18:58370482 [GRCh38]
Chr18:56037714 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2826-13del deletion not provided [RCV002765453] Chr18:58396154 [GRCh38]
Chr18:56063386 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1692G>A (p.Thr564=) single nucleotide variant not provided [RCV002575073] Chr18:58351029 [GRCh38]
Chr18:56018261 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2257-6C>G single nucleotide variant not provided [RCV002745644] Chr18:58373168 [GRCh38]
Chr18:56040400 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.513+3A>G single nucleotide variant not provided [RCV002853425] Chr18:58323337 [GRCh38]
Chr18:55990569 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2466G>A (p.Lys822=) single nucleotide variant not provided [RCV003059192] Chr18:58385565 [GRCh38]
Chr18:56052797 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1929C>T (p.Val643=) single nucleotide variant not provided [RCV003023221] Chr18:58366094 [GRCh38]
Chr18:56033326 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2547+19_2547+21del microsatellite not provided [RCV002574667] Chr18:58387514..58387516 [GRCh38]
Chr18:56054746..56054748 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.980G>T (p.Ser327Ile) single nucleotide variant Inborn genetic diseases [RCV003340520]|not provided [RCV002594637] Chr18:58330904 [GRCh38]
Chr18:55998136 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1944G>A (p.Leu648=) single nucleotide variant not provided [RCV002593623] Chr18:58366109 [GRCh38]
Chr18:56033341 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.431G>A (p.Gly144Glu) single nucleotide variant not provided [RCV002852790] Chr18:58323252 [GRCh38]
Chr18:55990484 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1919G>A (p.Arg640Lys) single nucleotide variant not provided [RCV002918517] Chr18:58366084 [GRCh38]
Chr18:56033316 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.349-18A>G single nucleotide variant not provided [RCV002741464] Chr18:58322407 [GRCh38]
Chr18:55989639 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.122+13T>A single nucleotide variant not provided [RCV003007741] Chr18:58165874 [GRCh38]
Chr18:55833106 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2709A>G (p.Thr903=) single nucleotide variant not provided [RCV002966102] Chr18:58390699 [GRCh38]
Chr18:56057931 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.881C>G (p.Pro294Arg) single nucleotide variant not provided [RCV003064524] Chr18:58330805 [GRCh38]
Chr18:55998037 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1205A>G (p.Tyr402Cys) single nucleotide variant not provided [RCV003090907] Chr18:58341117 [GRCh38]
Chr18:56008349 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.682G>A (p.Asp228Asn) single nucleotide variant not provided [RCV003087402] Chr18:58328996 [GRCh38]
Chr18:55996228 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.857C>T (p.Ser286Phe) single nucleotide variant not provided [RCV002578385] Chr18:58330781 [GRCh38]
Chr18:55998013 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2063+9A>G single nucleotide variant not provided [RCV002631454] Chr18:58366237 [GRCh38]
Chr18:56033469 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2544G>A (p.Leu848=) single nucleotide variant not provided [RCV002580546] Chr18:58387495 [GRCh38]
Chr18:56054727 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.681-20C>G single nucleotide variant not provided [RCV002646398] Chr18:58328975 [GRCh38]
Chr18:55996207 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.101A>G (p.Lys34Arg) single nucleotide variant not provided [RCV003028502] Chr18:58165840 [GRCh38]
Chr18:55833072 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2670_2671del (p.Met890fs) deletion not provided [RCV003044528] Chr18:58390660..58390661 [GRCh38]
Chr18:56057892..56057893 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2063+19C>A single nucleotide variant not provided [RCV002877073] Chr18:58366247 [GRCh38]
Chr18:56033479 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1324C>T (p.Arg442Cys) single nucleotide variant not provided [RCV003089390] Chr18:58341744 [GRCh38]
Chr18:56008976 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1029C>T (p.Val343=) single nucleotide variant not provided [RCV003060169] Chr18:58333856 [GRCh38]
Chr18:56001088 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.49-18T>C single nucleotide variant not provided [RCV002833862] Chr18:58165770 [GRCh38]
Chr18:55833002 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.486A>C (p.Glu162Asp) single nucleotide variant not provided [RCV002628431] Chr18:58323307 [GRCh38]
Chr18:55990539 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1756A>G (p.Ile586Val) single nucleotide variant not provided [RCV002962994] Chr18:58357241 [GRCh38]
Chr18:56024473 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.681-14del deletion not provided [RCV003026385] Chr18:58328979 [GRCh38]
Chr18:55996211 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.156G>A (p.Ala52=) single nucleotide variant not provided [RCV003089517] Chr18:58245460 [GRCh38]
Chr18:55912692 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2121G>T (p.Leu707Phe) single nucleotide variant Inborn genetic diseases [RCV002920338] Chr18:58367803 [GRCh38]
Chr18:56035035 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2471T>G (p.Met824Arg) single nucleotide variant not provided [RCV002806789] Chr18:58385570 [GRCh38]
Chr18:56052802 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.1576-12T>C single nucleotide variant not provided [RCV002966407] Chr18:58349525 [GRCh38]
Chr18:56016757 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.786G>T (p.Glu262Asp) single nucleotide variant not provided [RCV003009729] Chr18:58329100 [GRCh38]
Chr18:55996332 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.49-16225_49-16215del deletion Inborn genetic diseases [RCV002702442] Chr18:58149562..58149572 [GRCh38]
Chr18:55816794..55816804 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.681-17C>G single nucleotide variant not provided [RCV002966917] Chr18:58328978 [GRCh38]
Chr18:55996210 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.513+13C>T single nucleotide variant not provided [RCV002942814] Chr18:58323347 [GRCh38]
Chr18:55990579 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2393T>C (p.Met798Thr) single nucleotide variant not provided [RCV002635644] Chr18:58383286 [GRCh38]
Chr18:56050518 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2488-16T>G single nucleotide variant not provided [RCV003092411] Chr18:58387423 [GRCh38]
Chr18:56054655 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.681-16T>G single nucleotide variant not provided [RCV002605666] Chr18:58328979 [GRCh38]
Chr18:55996211 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1378-15A>C single nucleotide variant not provided [RCV003049845] Chr18:58342891 [GRCh38]
Chr18:56010123 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.513+12G>A single nucleotide variant not provided [RCV002676767] Chr18:58323346 [GRCh38]
Chr18:55990578 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.413A>G (p.His138Arg) single nucleotide variant not provided [RCV003052515] Chr18:58323234 [GRCh38]
Chr18:55990466 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1654-12C>T single nucleotide variant not provided [RCV002608341] Chr18:58350979 [GRCh38]
Chr18:56018211 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.342C>T (p.His114=) single nucleotide variant not provided [RCV002605068] Chr18:58316026 [GRCh38]
Chr18:55983258 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1366G>A (p.Ala456Thr) single nucleotide variant not provided [RCV003066441] Chr18:58341786 [GRCh38]
Chr18:56009018 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1126-16T>C single nucleotide variant not provided [RCV003066678] Chr18:58341022 [GRCh38]
Chr18:56008254 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1107G>A (p.Thr369=) single nucleotide variant Periventricular nodular heterotopia 7 [RCV003224712] Chr18:58335519 [GRCh38]
Chr18:56002751 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.614A>C (p.Asn205Thr) single nucleotide variant Inborn genetic diseases [RCV003219743] Chr18:58325096 [GRCh38]
Chr18:55992328 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1393C>T (p.Pro465Ser) single nucleotide variant Periventricular nodular heterotopia 7 [RCV003142649] Chr18:58342921 [GRCh38]
Chr18:56010153 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.297+4116C>T single nucleotide variant not provided [RCV003423100] Chr18:58256170 [GRCh38]
Chr18:55923402 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2563C>T (p.Leu855Phe) single nucleotide variant Periventricular nodular heterotopia 7 [RCV003333409] Chr18:58389100 [GRCh38]
Chr18:56056332 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2614G>C (p.Gly872Arg) single nucleotide variant Periventricular nodular heterotopia 7 [RCV003459012] Chr18:58389151 [GRCh38]
Chr18:56056383 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q21.31(chr18:55668092-55905883)x4 copy number gain not provided [RCV003485368] Chr18:55668092..55905883 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2064-17C>A single nucleotide variant not provided [RCV003571865] Chr18:58367729 [GRCh38]
Chr18:56034961 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.39C>T (p.Ser13=) single nucleotide variant not provided [RCV003875714] Chr18:58044699 [GRCh38]
Chr18:55711931 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1258-6A>G single nucleotide variant Periventricular nodular heterotopia 7 [RCV003459017]|not provided [RCV003778505] Chr18:58341672 [GRCh38]
Chr18:56008904 [GRCh37]
Chr18:18q21.31		 benign|uncertain significance
NM_001144967.3(NEDD4L):c.934A>G (p.Ser312Gly) single nucleotide variant not provided [RCV003568920] Chr18:58330858 [GRCh38]
Chr18:55998090 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2109T>A (p.Asn703Lys) single nucleotide variant not provided [RCV003542991] Chr18:58367791 [GRCh38]
Chr18:56035023 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1653+5G>A single nucleotide variant not provided [RCV003571674] Chr18:58349619 [GRCh38]
Chr18:56016851 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003571711] Chr18:58044662 [GRCh38]
Chr18:55711894 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2674G>C (p.Ala892Pro) single nucleotide variant not provided [RCV003571722] Chr18:58390664 [GRCh38]
Chr18:56057896 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2909G>T (p.Gly970Val) single nucleotide variant NEDD4L-related condition [RCV003402149] Chr18:58396250 [GRCh38]
Chr18:56063482 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.814-6T>C single nucleotide variant not provided [RCV003880362] Chr18:58330732 [GRCh38]
Chr18:55997964 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.297+3908G>A single nucleotide variant not provided [RCV003421659] Chr18:58255962 [GRCh38]
Chr18:55923194 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1073C>G (p.Ala358Gly) single nucleotide variant not provided [RCV003423102] Chr18:58335485 [GRCh38]
Chr18:56002717 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.297+4347C>T single nucleotide variant not provided [RCV003423101] Chr18:58256401 [GRCh38]
Chr18:55923633 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.430G>A (p.Gly144Arg) single nucleotide variant NEDD4L-related condition [RCV003416831] Chr18:58323251 [GRCh38]
Chr18:55990483 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1174G>C (p.Glu392Gln) single nucleotide variant NEDD4L-related condition [RCV003392907] Chr18:58341086 [GRCh38]
Chr18:56008318 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1105A>G (p.Thr369Ala) single nucleotide variant NEDD4L-related condition [RCV003410697] Chr18:58335517 [GRCh38]
Chr18:56002749 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1768G>C (p.Ala590Pro) single nucleotide variant NEDD4L-related condition [RCV003405758] Chr18:58364268 [GRCh38]
Chr18:56031500 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.48+46726_48+46730del deletion not provided [RCV003413459] Chr18:58091434..58091438 [GRCh38]
Chr18:55758666..55758670 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.297+3917G>C single nucleotide variant not provided [RCV003413460] Chr18:58255971 [GRCh38]
Chr18:55923203 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.1302C>T (p.Asn434=) single nucleotide variant not provided [RCV003690690] Chr18:58341722 [GRCh38]
Chr18:56008954 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2320A>G (p.Met774Val) single nucleotide variant not provided [RCV003578899] Chr18:58373237 [GRCh38]
Chr18:56040469 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2016C>A (p.Ser672=) single nucleotide variant not provided [RCV003693422] Chr18:58366181 [GRCh38]
Chr18:56033413 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2426+8T>C single nucleotide variant not provided [RCV003693568] Chr18:58383327 [GRCh38]
Chr18:56050559 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1020A>T (p.Ser340=) single nucleotide variant not provided [RCV003739962] Chr18:58333847 [GRCh38]
Chr18:56001079 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2656-19C>T single nucleotide variant not provided [RCV003579050] Chr18:58390627 [GRCh38]
Chr18:56057859 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2063+18C>T single nucleotide variant not provided [RCV003544082] Chr18:58366246 [GRCh38]
Chr18:56033478 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1430C>T (p.Pro477Leu) single nucleotide variant not provided [RCV003576617] Chr18:58342958 [GRCh38]
Chr18:56010190 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1654-17C>T single nucleotide variant not provided [RCV003714621] Chr18:58350974 [GRCh38]
Chr18:56018206 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1678T>G (p.Leu560Val) single nucleotide variant not provided [RCV003544501] Chr18:58351015 [GRCh38]
Chr18:56018247 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.778GAGCCC[3] (p.Pro263_Ser264insGluPro) microsatellite not provided [RCV003828389] Chr18:58329091..58329092 [GRCh38]
Chr18:55996323..55996324 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2427-20T>C single nucleotide variant not provided [RCV003739364] Chr18:58385506 [GRCh38]
Chr18:56052738 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1786G>C (p.Glu596Gln) single nucleotide variant not provided [RCV003662272] Chr18:58364286 [GRCh38]
Chr18:56031518 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1821A>G (p.Lys607=) single nucleotide variant not provided [RCV003575901] Chr18:58364321 [GRCh38]
Chr18:56031553 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2655+10G>A single nucleotide variant not provided [RCV003830315] Chr18:58389202 [GRCh38]
Chr18:56056434 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.244-4A>G single nucleotide variant not provided [RCV003830693] Chr18:58251997 [GRCh38]
Chr18:55919229 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2303C>T (p.Pro768Leu) single nucleotide variant not provided [RCV003689456] Chr18:58373220 [GRCh38]
Chr18:56040452 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1982G>A (p.Gly661Glu) single nucleotide variant not provided [RCV003577964] Chr18:58366147 [GRCh38]
Chr18:56033379 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.205-4C>G single nucleotide variant not provided [RCV003661637] Chr18:58248895 [GRCh38]
Chr18:55916127 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2061C>T (p.Ala687=) single nucleotide variant not provided [RCV003689900] Chr18:58366226 [GRCh38]
Chr18:56033458 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.134T>C (p.Val45Ala) single nucleotide variant not provided [RCV003660075] Chr18:58245438 [GRCh38]
Chr18:55912670 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2548-8C>A single nucleotide variant not provided [RCV003547478] Chr18:58389077 [GRCh38]
Chr18:56056309 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2087A>G (p.Asn696Ser) single nucleotide variant not provided [RCV003578013] Chr18:58367769 [GRCh38]
Chr18:56035001 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.349-13T>C single nucleotide variant not provided [RCV003830864] Chr18:58322412 [GRCh38]
Chr18:55989644 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2248G>C (p.Glu750Gln) single nucleotide variant not provided [RCV003661140] Chr18:58370459 [GRCh38]
Chr18:56037691 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1321A>G (p.Ile441Val) single nucleotide variant not provided [RCV003544491] Chr18:58341741 [GRCh38]
Chr18:56008973 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1774C>T (p.Pro592Ser) single nucleotide variant not provided [RCV003694220] Chr18:58364274 [GRCh38]
Chr18:56031506 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2048T>G (p.Phe683Cys) single nucleotide variant not provided [RCV003695044] Chr18:58366213 [GRCh38]
Chr18:56033445 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2256+19C>T single nucleotide variant not provided [RCV003830470] Chr18:58370486 [GRCh38]
Chr18:56037718 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2752+7A>C single nucleotide variant not provided [RCV003715969] Chr18:58390749 [GRCh38]
Chr18:56057981 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2634C>A (p.Pro878=) single nucleotide variant not provided [RCV003738674] Chr18:58389171 [GRCh38]
Chr18:56056403 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2826-3C>T single nucleotide variant not provided [RCV003827025] Chr18:58396164 [GRCh38]
Chr18:56063396 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.48+11C>T single nucleotide variant not provided [RCV003880162] Chr18:58044719 [GRCh38]
Chr18:55711951 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1377+7C>A single nucleotide variant not provided [RCV003574102] Chr18:58341804 [GRCh38]
Chr18:56009036 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1474C>T (p.His492Tyr) single nucleotide variant not provided [RCV003824495] Chr18:58343002 [GRCh38]
Chr18:56010234 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2826-16T>G single nucleotide variant not provided [RCV003687999] Chr18:58396151 [GRCh38]
Chr18:56063383 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.786G>C (p.Glu262Asp) single nucleotide variant not provided [RCV003687969] Chr18:58329100 [GRCh38]
Chr18:55996332 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.205-20C>G single nucleotide variant not provided [RCV003689625] Chr18:58248879 [GRCh38]
Chr18:55916111 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2401A>C (p.Asn801His) single nucleotide variant not provided [RCV003665715] Chr18:58383294 [GRCh38]
Chr18:56050526 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1767+14A>T single nucleotide variant not provided [RCV003549897] Chr18:58357266 [GRCh38]
Chr18:56024498 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1767+13_1767+14insG insertion not provided [RCV003549896] Chr18:58357265..58357266 [GRCh38]
Chr18:56024497..56024498 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1767+17T>A single nucleotide variant not provided [RCV003549898] Chr18:58357269 [GRCh38]
Chr18:56024501 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.984T>A (p.Ser328=) single nucleotide variant not provided [RCV003664500] Chr18:58330908 [GRCh38]
Chr18:55998140 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2752+15A>G single nucleotide variant not provided [RCV003557697] Chr18:58390757 [GRCh38]
Chr18:56057989 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.474T>A (p.Gly158=) single nucleotide variant not provided [RCV003717295] Chr18:58323295 [GRCh38]
Chr18:55990527 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2826-20A>G single nucleotide variant not provided [RCV003811765] Chr18:58396147 [GRCh38]
Chr18:56063379 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1833+7_1833+9del deletion not provided [RCV003855430] Chr18:58364339..58364341 [GRCh38]
Chr18:56031571..56031573 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1280G>A (p.Gly427Glu) single nucleotide variant not provided [RCV003670555] Chr18:58341700 [GRCh38]
Chr18:56008932 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1578A>T (p.Glu526Asp) single nucleotide variant not provided [RCV003840019] Chr18:58349539 [GRCh38]
Chr18:56016771 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1904T>C (p.Ile635Thr) single nucleotide variant not provided [RCV003700411] Chr18:58366069 [GRCh38]
Chr18:56033301 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1767+20del deletion not provided [RCV003549899] Chr18:58357272 [GRCh38]
Chr18:56024504 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.343C>T (p.Leu115Phe) single nucleotide variant not provided [RCV003855652] Chr18:58316027 [GRCh38]
Chr18:55983259 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.155C>T (p.Ala52Val) single nucleotide variant not provided [RCV003856491] Chr18:58245459 [GRCh38]
Chr18:55912691 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2548-13A>G single nucleotide variant not provided [RCV003856840] Chr18:58389072 [GRCh38]
Chr18:56056304 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2487+15C>T single nucleotide variant not provided [RCV003561670] Chr18:58385601 [GRCh38]
Chr18:56052833 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.411-18C>G single nucleotide variant not provided [RCV003559300] Chr18:58323214 [GRCh38]
Chr18:55990446 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1621T>C (p.Ser541Pro) single nucleotide variant not provided [RCV003832241] Chr18:58349582 [GRCh38]
Chr18:56016814 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2256+7A>T single nucleotide variant not provided [RCV003672851] Chr18:58370474 [GRCh38]
Chr18:56037706 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.397C>T (p.Leu133Phe) single nucleotide variant not provided [RCV003673861] Chr18:58322473 [GRCh38]
Chr18:55989705 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1653+12G>A single nucleotide variant not provided [RCV003667033] Chr18:58349626 [GRCh38]
Chr18:56016858 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.692C>T (p.Ser231Leu) single nucleotide variant not provided [RCV003561422] Chr18:58329006 [GRCh38]
Chr18:55996238 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2488-17T>A single nucleotide variant not provided [RCV003561696] Chr18:58387422 [GRCh38]
Chr18:56054654 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV003561462] Chr18:58044666 [GRCh38]
Chr18:55711898 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1258-9C>G single nucleotide variant not provided [RCV003671139] Chr18:58341669 [GRCh38]
Chr18:56008901 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2063+16C>T single nucleotide variant not provided [RCV003701380] Chr18:58366244 [GRCh38]
Chr18:56033476 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1654-1G>A single nucleotide variant not provided [RCV003702314] Chr18:58350990 [GRCh38]
Chr18:56018222 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.195_197del (p.Ile66del) deletion not provided [RCV003664423] Chr18:58245499..58245501 [GRCh38]
Chr18:55912731..55912733 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.128C>T (p.Pro43Leu) single nucleotide variant not provided [RCV003852370] Chr18:58245432 [GRCh38]
Chr18:55912664 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1488G>C (p.Gln496His) single nucleotide variant not provided [RCV003701167] Chr18:58343016 [GRCh38]
Chr18:56010248 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1399C>T (p.Arg467Cys) single nucleotide variant not provided [RCV003701915] Chr18:58342927 [GRCh38]
Chr18:56010159 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1424C>T (p.Ser475Phe) single nucleotide variant not provided [RCV003548909] Chr18:58342952 [GRCh38]
Chr18:56010184 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.40G>A (p.Glu14Lys) single nucleotide variant not provided [RCV003699801] Chr18:58044700 [GRCh38]
Chr18:55711932 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1834-3T>C single nucleotide variant not provided [RCV003671949] Chr18:58365996 [GRCh38]
Chr18:56033228 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1279G>C (p.Gly427Arg) single nucleotide variant not provided [RCV003863816] Chr18:58341699 [GRCh38]
Chr18:56008931 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.966T>C (p.Asn322=) single nucleotide variant not provided [RCV003731117] Chr18:58330890 [GRCh38]
Chr18:55998122 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2093A>T (p.Asn698Ile) single nucleotide variant not provided [RCV003563696] Chr18:58367775 [GRCh38]
Chr18:56035007 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.457A>G (p.Met153Val) single nucleotide variant not provided [RCV003676618] Chr18:58323278 [GRCh38]
Chr18:55990510 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1725G>A (p.Gln575=) single nucleotide variant not provided [RCV003562471] Chr18:58357210 [GRCh38]
Chr18:56024442 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.690C>G (p.Ser230=) single nucleotide variant not provided [RCV003819702] Chr18:58329004 [GRCh38]
Chr18:55996236 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1208A>G (p.Tyr403Cys) single nucleotide variant not provided [RCV003552361] Chr18:58341120 [GRCh38]
Chr18:56008352 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.991-14dup duplication not provided [RCV003552808] Chr18:58333800..58333801 [GRCh38]
Chr18:56001032..56001033 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.376T>C (p.Tyr126His) single nucleotide variant not provided [RCV003676193] Chr18:58322452 [GRCh38]
Chr18:55989684 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.244-9T>A single nucleotide variant not provided [RCV003563898] Chr18:58251992 [GRCh38]
Chr18:55919224 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.479A>T (p.Asp160Val) single nucleotide variant not provided [RCV003857455] Chr18:58323300 [GRCh38]
Chr18:55990532 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.48+3G>A single nucleotide variant not provided [RCV003706826] Chr18:58044711 [GRCh38]
Chr18:55711943 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1252A>T (p.Met418Leu) single nucleotide variant not provided [RCV003563139] Chr18:58341164 [GRCh38]
Chr18:56008396 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2427-7C>G single nucleotide variant not provided [RCV003551060] Chr18:58385519 [GRCh38]
Chr18:56052751 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2352+11G>A single nucleotide variant not provided [RCV003554726] Chr18:58373280 [GRCh38]
Chr18:56040512 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2265A>G (p.Glu755=) single nucleotide variant not provided [RCV003859288] Chr18:58373182 [GRCh38]
Chr18:56040414 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1952A>G (p.Glu651Gly) single nucleotide variant not provided [RCV003708406] Chr18:58366117 [GRCh38]
Chr18:56033349 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.349-17C>G single nucleotide variant not provided [RCV003681523] Chr18:58322408 [GRCh38]
Chr18:55989640 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2598T>C (p.His866=) single nucleotide variant not provided [RCV003711700] Chr18:58389135 [GRCh38]
Chr18:56056367 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1159C>T (p.Leu387=) single nucleotide variant not provided [RCV003843199] Chr18:58341071 [GRCh38]
Chr18:56008303 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1405G>A (p.Ala469Thr) single nucleotide variant not provided [RCV003853966] Chr18:58342933 [GRCh38]
Chr18:56010165 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.24G>A (p.Pro8=) single nucleotide variant not provided [RCV003564356] Chr18:58044684 [GRCh38]
Chr18:55711916 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2327G>T (p.Cys776Phe) single nucleotide variant not provided [RCV003553717] Chr18:58373244 [GRCh38]
Chr18:56040476 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.982_983delinsAT (p.Ser328Ile) indel not provided [RCV003734355] Chr18:58330906..58330907 [GRCh38]
Chr18:55998138..55998139 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.606A>G (p.Lys202=) single nucleotide variant not provided [RCV003822232] Chr18:58325088 [GRCh38]
Chr18:55992320 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1991C>G (p.Ala664Gly) single nucleotide variant not provided [RCV003685218] Chr18:58366156 [GRCh38]
Chr18:56033388 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1653+19C>T single nucleotide variant not provided [RCV003551873] Chr18:58349633 [GRCh38]
Chr18:56016865 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.298-17T>G single nucleotide variant not provided [RCV003735624] Chr18:58315965 [GRCh38]
Chr18:55983197 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.976T>A (p.Phe326Ile) single nucleotide variant not provided [RCV003563767] Chr18:58330900 [GRCh38]
Chr18:55998132 [GRCh37]
Chr18:18q21.31		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_001144967.3(NEDD4L):c.298-11C>A single nucleotide variant not provided [RCV003677742] Chr18:58315971 [GRCh38]
Chr18:55983203 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.991-19T>G single nucleotide variant not provided [RCV003710899] Chr18:58333799 [GRCh38]
Chr18:56001031 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.2825+11A>G single nucleotide variant not provided [RCV003719000] Chr18:58391570 [GRCh38]
Chr18:56058802 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2602A>G (p.Ile868Val) single nucleotide variant not provided [RCV003737856] Chr18:58389139 [GRCh38]
Chr18:56056371 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.157G>A (p.Asp53Asn) single nucleotide variant not provided [RCV003709891] Chr18:58245461 [GRCh38]
Chr18:55912693 [GRCh37]
Chr18:18q21.31		 benign
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_001144967.3(NEDD4L):c.298-5A>G single nucleotide variant not provided [RCV003684260] Chr18:58315977 [GRCh38]
Chr18:55983209 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.909C>T (p.Ser303=) single nucleotide variant not provided [RCV003722029] Chr18:58330833 [GRCh38]
Chr18:55998065 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2631C>T (p.His877=) single nucleotide variant not provided [RCV003720574] Chr18:58389168 [GRCh38]
Chr18:56056400 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2427-13T>C single nucleotide variant not provided [RCV003708872] Chr18:58385513 [GRCh38]
Chr18:56052745 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.813G>A (p.Glu271=) single nucleotide variant not provided [RCV003551009] Chr18:58329127 [GRCh38]
Chr18:55996359 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.411-9T>C single nucleotide variant not provided [RCV003552962] Chr18:58323223 [GRCh38]
Chr18:55990455 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1749C>G (p.Asn583Lys) single nucleotide variant not provided [RCV003680956] Chr18:58357234 [GRCh38]
Chr18:56024466 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.2877_2878del (p.Lys960fs) microsatellite not provided [RCV003555230] Chr18:58396214..58396215 [GRCh38]
Chr18:56063446..56063447 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1503_1504delinsAC (p.Gly502Arg) indel not provided [RCV003563138] Chr18:58343031..58343032 [GRCh38]
Chr18:56010263..56010264 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2218T>C (p.Leu740=) single nucleotide variant not provided [RCV003552611] Chr18:58370429 [GRCh38]
Chr18:56037661 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.2064-16del deletion not provided [RCV003680094] Chr18:58367730 [GRCh38]
Chr18:56034962 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.21G>T (p.Glu7Asp) single nucleotide variant not provided [RCV003863938] Chr18:58044681 [GRCh38]
Chr18:55711913 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.194C>A (p.Thr65Lys) single nucleotide variant not provided [RCV003562148] Chr18:58245498 [GRCh38]
Chr18:55912730 [GRCh37]
Chr18:18q21.31		 benign
NM_001144967.3(NEDD4L):c.577C>A (p.Pro193Thr) single nucleotide variant not provided [RCV003553398] Chr18:58325059 [GRCh38]
Chr18:55992291 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.243+18T>C single nucleotide variant not provided [RCV003729453] Chr18:58248955 [GRCh38]
Chr18:55916187 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1653+15G>A single nucleotide variant not provided [RCV003670805] Chr18:58349629 [GRCh38]
Chr18:56016861 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.447A>G (p.Lys149=) single nucleotide variant not provided [RCV003731369] Chr18:58323268 [GRCh38]
Chr18:55990500 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.739C>T (p.Arg247Trp) single nucleotide variant not provided [RCV003728427] Chr18:58329053 [GRCh38]
Chr18:55996285 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1834-16T>C single nucleotide variant not provided [RCV003731100] Chr18:58365983 [GRCh38]
Chr18:56033215 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.808C>T (p.Pro270Ser) single nucleotide variant not provided [RCV003707751] Chr18:58329122 [GRCh38]
Chr18:55996354 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.961T>G (p.Ser321Ala) single nucleotide variant not provided [RCV003823257] Chr18:58330885 [GRCh38]
Chr18:55998117 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1253T>C (p.Met418Thr) single nucleotide variant not provided [RCV003733006] Chr18:58341165 [GRCh38]
Chr18:56008397 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.348+6G>A single nucleotide variant not provided [RCV003731525] Chr18:58316038 [GRCh38]
Chr18:55983270 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.783C>T (p.Pro261=) single nucleotide variant not provided [RCV003731558] Chr18:58329097 [GRCh38]
Chr18:55996329 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.370C>G (p.Arg124Gly) single nucleotide variant not provided [RCV003704556] Chr18:58322446 [GRCh38]
Chr18:55989678 [GRCh37]
Chr18:18q21.31		 uncertain significance
NM_001144967.3(NEDD4L):c.1311C>T (p.Ile437=) single nucleotide variant NEDD4L-related condition [RCV003897025] Chr18:58341731 [GRCh38]
Chr18:56008963 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1101T>C (p.Thr367=) single nucleotide variant NEDD4L-related condition [RCV003901966] Chr18:58335513 [GRCh38]
Chr18:56002745 [GRCh37]
Chr18:18q21.31		 likely benign
NM_001144967.3(NEDD4L):c.1089G>A (p.Ala363=) single nucleotide variant NEDD4L-related condition [RCV003897108] Chr18:58335501 [GRCh38]
Chr18:56002733 [GRCh37]
Chr18:18q21.31		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:13544
Count of miRNA genes:1439
Interacting mature miRNAs:1983
Transcripts:ENST00000256830, ENST00000256832, ENST00000356462, ENST00000357895, ENST00000382850, ENST00000400345, ENST00000431212, ENST00000435432, ENST00000456173, ENST00000456986, ENST00000585323, ENST00000585363, ENST00000585594, ENST00000585970, ENST00000586263, ENST00000586268, ENST00000587190, ENST00000587246, ENST00000587547, ENST00000587634, ENST00000587881, ENST00000588066, ENST00000588494, ENST00000588516, ENST00000588712, ENST00000589054, ENST00000589167, ENST00000590020, ENST00000590248, ENST00000590506, ENST00000590638, ENST00000590694, ENST00000591579, ENST00000591989, ENST00000592097, ENST00000592601, ENST00000592846
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
D17S1835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371760,746,405 - 60,746,667UniSTSGRCh37
GRCh371855,776,719 - 55,776,893UniSTSGRCh37
Build 361758,100,137 - 58,100,399RGDNCBI36
Celera1755,134,291 - 55,134,553RGD
Celera1852,493,495 - 52,493,669UniSTS
HuRef1852,486,253 - 52,486,427UniSTS
HuRef34,903,422 - 4,903,862UniSTS
HuRef1756,113,460 - 56,113,722UniSTS
Marshfield Genetic Map1782.56RGD
Marshfield Genetic Map1782.56UniSTS
Genethon Genetic Map1784.2UniSTS
A004M46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,068,485 - 56,068,665UniSTSGRCh37
Build 361854,219,465 - 54,219,645RGDNCBI36
Celera1852,784,860 - 52,785,040RGD
Cytogenetic Map18q21UniSTS
HuRef1852,776,848 - 52,777,028UniSTS
GeneMap99-GB4 RH Map18404.74UniSTS
NCBI RH Map18743.3UniSTS
RH48825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,761,892 - 55,762,031UniSTSGRCh37
Build 361853,912,890 - 53,913,029RGDNCBI36
Celera1852,478,668 - 52,478,807RGD
Cytogenetic Map18q21UniSTS
HuRef1852,471,426 - 52,471,565UniSTS
GeneMap99-GB4 RH Map18394.96UniSTS
NCBI RH Map18762.5UniSTS
RH68474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,982,487 - 55,982,645UniSTSGRCh37
Build 361854,133,467 - 54,133,625RGDNCBI36
Celera1852,698,866 - 52,699,024RGD
Cytogenetic Map18q21UniSTS
HuRef1852,690,905 - 52,691,063UniSTS
GeneMap99-GB4 RH Map18400.05UniSTS
RH92534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,001,589 - 56,001,736UniSTSGRCh37
Build 361854,152,569 - 54,152,716RGDNCBI36
Celera1852,717,968 - 52,718,115RGD
Cytogenetic Map18q21UniSTS
HuRef1852,709,939 - 52,710,086UniSTS
GeneMap99-GB4 RH Map18394.65UniSTS
RH15898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,068,602 - 56,068,732UniSTSGRCh37
Build 361854,219,582 - 54,219,712RGDNCBI36
Celera1852,784,977 - 52,785,107RGD
Cytogenetic Map18q21UniSTS
HuRef1852,776,965 - 52,777,095UniSTS
RH119679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,911,422 - 55,911,741UniSTSGRCh37
Build 361854,062,402 - 54,062,721RGDNCBI36
Celera1852,627,801 - 52,628,120RGD
Cytogenetic Map18q21UniSTS
HuRef1852,619,795 - 52,620,114UniSTS
TNG Radiation Hybrid Map1822568.0UniSTS
RH119039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,838,913 - 55,839,186UniSTSGRCh37
Build 361853,989,911 - 53,990,184RGDNCBI36
Celera1852,554,663 - 52,554,936RGD
Cytogenetic Map18q21UniSTS
HuRef1852,546,715 - 52,546,988UniSTS
TNG Radiation Hybrid Map1822542.0UniSTS
D18S21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37188,562,482 - 8,562,642UniSTSGRCh37
Build 36188,552,482 - 8,552,642RGDNCBI36
Celera188,446,822 - 8,446,982RGD
HuRef188,526,855 - 8,527,015UniSTS
D18S1348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,818,818 - 55,818,932UniSTSGRCh37
Build 361853,969,816 - 53,969,930RGDNCBI36
Celera1852,535,264 - 52,535,378RGD
Cytogenetic Map18q21UniSTS
HuRef1852,527,604 - 52,527,718UniSTS
SHGC-105843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,764,401 - 55,764,682UniSTSGRCh37
Build 361853,915,399 - 53,915,680RGDNCBI36
Celera1852,481,177 - 52,481,458RGD
Cytogenetic Map18q21UniSTS
HuRef1852,473,935 - 52,474,216UniSTS
TNG Radiation Hybrid Map1822491.0UniSTS
D18S887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,959,396 - 55,959,512UniSTSGRCh37
Build 361854,110,376 - 54,110,492RGDNCBI36
Celera1852,675,775 - 52,675,891RGD
Cytogenetic Map18q21UniSTS
HuRef1852,667,814 - 52,667,930UniSTS
Whitehead-YAC Contig Map18 UniSTS
SHGC-154558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,743,264 - 55,743,563UniSTSGRCh37
Build 361853,894,262 - 53,894,561RGDNCBI36
Celera1852,460,037 - 52,460,336RGD
Cytogenetic Map18q21UniSTS
HuRef1852,452,791 - 52,453,090UniSTS
TNG Radiation Hybrid Map1822469.0UniSTS
SHGC-132384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,068,520 - 56,068,731UniSTSGRCh37
Build 361854,219,500 - 54,219,711RGDNCBI36
Celera1852,784,895 - 52,785,106RGD
Cytogenetic Map18q21UniSTS
HuRef1852,776,883 - 52,777,094UniSTS
TNG Radiation Hybrid Map1822618.0UniSTS
SHGC-82284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,838,955 - 55,839,250UniSTSGRCh37
Build 361853,989,953 - 53,990,248RGDNCBI36
Celera1852,554,705 - 52,555,000RGD
Cytogenetic Map18q21UniSTS
HuRef1852,546,757 - 52,547,052UniSTS
TNG Radiation Hybrid Map1822542.0UniSTS
A008X40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,065,884 - 56,065,998UniSTSGRCh37
Build 361854,216,864 - 54,216,978RGDNCBI36
Celera1852,782,259 - 52,782,373RGD
Cytogenetic Map18q21UniSTS
HuRef1852,774,247 - 52,774,361UniSTS
GeneMap99-GB4 RH Map18404.74UniSTS
NCBI RH Map18743.3UniSTS
D18S825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,061,728 - 56,061,964UniSTSGRCh37
Build 361854,212,708 - 54,212,944RGDNCBI36
Celera1852,778,102 - 52,778,338RGD
Cytogenetic Map18q21UniSTS
HuRef1852,770,089 - 52,770,325UniSTS
D18S1026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,993,983 - 55,994,163UniSTSGRCh37
Build 361854,144,963 - 54,145,143RGDNCBI36
Celera1852,710,362 - 52,710,542RGD
Cytogenetic Map18q21UniSTS
HuRef1852,702,329 - 52,702,509UniSTS
Whitehead-RH Map18442.0UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18754.7UniSTS
RH68056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,017,391 - 56,017,530UniSTSGRCh37
Build 361854,168,371 - 54,168,510RGDNCBI36
Celera1852,733,770 - 52,733,909RGD
Cytogenetic Map18q21UniSTS
HuRef1852,725,745 - 52,725,884UniSTS
GeneMap99-GB4 RH Map18395.79UniSTS
NCBI RH Map18760.5UniSTS
RH15883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,063,563 - 56,063,739UniSTSGRCh37
Build 361854,214,543 - 54,214,719RGDNCBI36
Celera1852,779,937 - 52,780,113RGD
Cytogenetic Map18q21UniSTS
HuRef1852,771,924 - 52,772,100UniSTS
GeneMap99-GB4 RH Map18400.05UniSTS
NCBI RH Map18743.3UniSTS
D18S1055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,988,673 - 55,988,799UniSTSGRCh37
Build 361854,139,653 - 54,139,779RGDNCBI36
Celera1852,705,052 - 52,705,178RGD
Cytogenetic Map18q21UniSTS
HuRef1852,697,091 - 52,697,217UniSTS
Whitehead-RH Map18442.1UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18743.3UniSTS
SGC33936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,065,875 - 56,066,001UniSTSGRCh37
Build 361854,216,855 - 54,216,981RGDNCBI36
Celera1852,782,250 - 52,782,376RGD
Cytogenetic Map18q21UniSTS
HuRef1852,774,238 - 52,774,364UniSTS
GeneMap99-GB4 RH Map18396.2UniSTS
Whitehead-RH Map18442.0UniSTS
NCBI RH Map18755.8UniSTS
STS-AA019094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371855,910,814 - 55,911,034UniSTSGRCh37
Build 361854,061,794 - 54,062,014RGDNCBI36
Celera1852,627,193 - 52,627,413RGD
Cytogenetic Map18q21UniSTS
HuRef1852,619,187 - 52,619,407UniSTS
GeneMap99-GB4 RH Map18394.12UniSTS
NCBI RH Map18755.2UniSTS
STS-H54325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,064,011 - 56,064,222UniSTSGRCh37
Build 361854,214,991 - 54,215,202RGDNCBI36
Celera1852,780,386 - 52,780,597RGD
Cytogenetic Map18q21UniSTS
HuRef1852,772,373 - 52,772,584UniSTS
GeneMap99-GB4 RH Map18404.74UniSTS
NCBI RH Map18743.3UniSTS
SHGC-24432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,068,571 - 56,068,700UniSTSGRCh37
Build 361854,219,551 - 54,219,680RGDNCBI36
Celera1852,784,946 - 52,785,075RGD
Cytogenetic Map18q21UniSTS
HuRef1852,776,934 - 52,777,063UniSTS
GeneMap99-G3 RH Map182307.0UniSTS
WI-12140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,065,252 - 56,065,377UniSTSGRCh37
Build 361854,216,232 - 54,216,357RGDNCBI36
Celera1852,781,627 - 52,781,752RGD
Cytogenetic Map18q21UniSTS
HuRef1852,773,614 - 52,773,739UniSTS
GeneMap99-GB4 RH Map18401.09UniSTS
Whitehead-RH Map18443.5UniSTS
NCBI RH Map18741.7UniSTS
RH16409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,065,950 - 56,066,096UniSTSGRCh37
Build 361854,216,930 - 54,217,076RGDNCBI36
Celera1852,782,325 - 52,782,471RGD
Cytogenetic Map18q21UniSTS
HuRef1852,774,313 - 52,774,459UniSTS
GeneMap99-GB4 RH Map18394.65UniSTS
NCBI RH Map18761.8UniSTS
G20322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,065,153 - 56,065,313UniSTSGRCh37
Build 361854,216,133 - 54,216,293RGDNCBI36
Celera1852,781,528 - 52,781,688RGD
Cytogenetic Map18q21UniSTS
HuRef1852,773,515 - 52,773,675UniSTS
A005M03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,065,153 - 56,065,313UniSTSGRCh37
Build 361854,216,133 - 54,216,293RGDNCBI36
Celera1852,781,528 - 52,781,688RGD
Cytogenetic Map18q21UniSTS
HuRef1852,773,515 - 52,773,675UniSTS
GeneMap99-GB4 RH Map18395.38UniSTS
NCBI RH Map18761.2UniSTS
NEDD4L_3797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,064,652 - 56,065,459UniSTSGRCh37
Build 361854,215,632 - 54,216,439RGDNCBI36
Celera1852,781,027 - 52,781,834RGD
HuRef1852,773,014 - 52,773,822UniSTS
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS
G42355  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q21UniSTS
HuRef1852,759,047 - 52,759,233UniSTS
D18S21  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q21UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5p13-p12UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic MapXp11.4UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1164 32 525 179 231 68 639 437 1577 298 414 1005 122 8 325 1
Low 1274 2481 1199 445 1608 397 3386 1725 2140 120 1039 604 51 1 1196 2133 3 2
Below cutoff 1 471 2 102 331 31 10 4 3 330

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB071179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF210730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF385931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY112983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY112984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY112985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY243313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY243314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY243315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY243316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY243317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY243318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY243319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY243321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY243322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY256662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY312514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY751751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP260852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ215431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA248109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA759940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA819220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB317092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB473368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC363885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC381911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ181796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB659840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000256830   ⟹   ENSP00000256830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,044,661 - 58,396,573 (+)Ensembl
RefSeq Acc Id: ENST00000356462   ⟹   ENSP00000348847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,044,367 - 58,396,574 (+)Ensembl
RefSeq Acc Id: ENST00000357895   ⟹   ENSP00000350569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,149,333 - 58,396,705 (+)Ensembl
RefSeq Acc Id: ENST00000382850   ⟹   ENSP00000372301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,044,548 - 58,401,539 (+)Ensembl
RefSeq Acc Id: ENST00000400345   ⟹   ENSP00000383199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,044,226 - 58,401,539 (+)Ensembl
RefSeq Acc Id: ENST00000431212   ⟹   ENSP00000389406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,221,535 - 58,396,578 (+)Ensembl
RefSeq Acc Id: ENST00000435432   ⟹   ENSP00000393395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,149,333 - 58,396,551 (+)Ensembl
RefSeq Acc Id: ENST00000456173   ⟹   ENSP00000405440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,195,390 - 58,398,157 (+)Ensembl
RefSeq Acc Id: ENST00000456986   ⟹   ENSP00000411947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,047,226 - 58,401,540 (+)Ensembl
RefSeq Acc Id: ENST00000585323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,221,631 - 58,316,001 (+)Ensembl
RefSeq Acc Id: ENST00000585363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,045,934 - 58,245,508 (+)Ensembl
RefSeq Acc Id: ENST00000585594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,045,666 - 58,169,419 (+)Ensembl
RefSeq Acc Id: ENST00000585970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,359,871 - 58,366,231 (+)Ensembl
RefSeq Acc Id: ENST00000586263   ⟹   ENSP00000468546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,149,337 - 58,396,573 (+)Ensembl
RefSeq Acc Id: ENST00000586268   ⟹   ENSP00000467072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,221,568 - 58,329,127 (+)Ensembl
RefSeq Acc Id: ENST00000587190   ⟹   ENSP00000467768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,221,571 - 58,322,486 (+)Ensembl
RefSeq Acc Id: ENST00000587246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,366,597 - 58,373,255 (+)Ensembl
RefSeq Acc Id: ENST00000587547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,090,791 - 58,165,839 (+)Ensembl
RefSeq Acc Id: ENST00000587634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,245,886 - 58,254,511 (+)Ensembl
RefSeq Acc Id: ENST00000587881   ⟹   ENSP00000468332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,323,320 - 58,396,333 (+)Ensembl
RefSeq Acc Id: ENST00000588066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,197,769 - 58,325,082 (+)Ensembl
RefSeq Acc Id: ENST00000588494   ⟹   ENSP00000466789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,195,653 - 58,323,289 (+)Ensembl
RefSeq Acc Id: ENST00000588516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,046,363 - 58,245,508 (+)Ensembl
RefSeq Acc Id: ENST00000588712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,387,711 - 58,396,580 (+)Ensembl
RefSeq Acc Id: ENST00000589054   ⟹   ENSP00000465669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,044,384 - 58,396,704 (+)Ensembl
RefSeq Acc Id: ENST00000589167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,330,851 - 58,336,092 (+)Ensembl
RefSeq Acc Id: ENST00000590020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,323,305 - 58,334,020 (+)Ensembl
RefSeq Acc Id: ENST00000590248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,373,170 - 58,389,519 (+)Ensembl
RefSeq Acc Id: ENST00000590506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,390,064 - 58,398,157 (+)Ensembl
RefSeq Acc Id: ENST00000590638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,340,959 - 58,366,073 (+)Ensembl
RefSeq Acc Id: ENST00000590694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,045,525 - 58,165,861 (+)Ensembl
RefSeq Acc Id: ENST00000591579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,045,697 - 58,165,839 (+)Ensembl
RefSeq Acc Id: ENST00000591989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,045,689 - 58,245,489 (+)Ensembl
RefSeq Acc Id: ENST00000592097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,372,875 - 58,398,148 (+)Ensembl
RefSeq Acc Id: ENST00000592601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,314,555 - 58,329,127 (+)Ensembl
RefSeq Acc Id: ENST00000592846   ⟹   ENSP00000466776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,045,707 - 58,322,471 (+)Ensembl
RefSeq Acc Id: ENST00000617539   ⟹   ENSP00000479462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,044,387 - 58,045,477 (+)Ensembl
RefSeq Acc Id: ENST00000635997   ⟹   ENSP00000490696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,255,440 - 58,396,705 (+)Ensembl
RefSeq Acc Id: ENST00000674517   ⟹   ENSP00000501665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,291,202 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000674613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,045,922 - 58,254,537 (+)Ensembl
RefSeq Acc Id: ENST00000674636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,247,281 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000674845   ⟹   ENSP00000502309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,044,384 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000674856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,247,572 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000674921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,348,529 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000675101   ⟹   ENSP00000502133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,362,479 - 58,398,148 (+)Ensembl
RefSeq Acc Id: ENST00000675137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,088,250 - 58,316,001 (+)Ensembl
RefSeq Acc Id: ENST00000675147   ⟹   ENSP00000501840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,045,666 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000675221   ⟹   ENSP00000502761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,196,872 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000675227   ⟹   ENSP00000502649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,091,228 - 58,165,808 (+)Ensembl
RefSeq Acc Id: ENST00000675244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,391,029 - 58,398,148 (+)Ensembl
RefSeq Acc Id: ENST00000675434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,251,894 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000675502   ⟹   ENSP00000502428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,061,301 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000675554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,088,138 - 58,165,808 (+)Ensembl
RefSeq Acc Id: ENST00000675699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,372,875 - 58,398,148 (+)Ensembl
RefSeq Acc Id: ENST00000675801   ⟹   ENSP00000502688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,045,715 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000675865   ⟹   ENSP00000502003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,195,469 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000676024   ⟹   ENSP00000502105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,044,452 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000676223   ⟹   ENSP00000502361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,045,657 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000676226   ⟹   ENSP00000502325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,195,437 - 58,398,154 (+)Ensembl
RefSeq Acc Id: ENST00000676251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,195,430 - 58,336,494 (+)Ensembl
RefSeq Acc Id: ENST00000676301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,391,186 - 58,396,706 (+)Ensembl
RefSeq Acc Id: ENST00000679791   ⟹   ENSP00000505573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1858,341,038 - 58,401,539 (+)Ensembl
RefSeq Acc Id: NM_001144964   ⟹   NP_001138436
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,047,226 - 58,401,540 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
HuRef1852,421,551 - 52,777,135 (+)NCBI
CHM1_11855,709,876 - 56,063,999 (+)NCBI
T2T-CHM13v2.01858,247,117 - 58,602,300 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001144965   ⟹   NP_001138437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,149,320 - 58,401,539 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
HuRef1852,421,551 - 52,777,135 (+)NCBI
CHM1_11855,811,790 - 56,063,999 (+)NCBI
T2T-CHM13v2.01858,348,856 - 58,602,299 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001144966   ⟹   NP_001138438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,221,571 - 58,401,539 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
HuRef1852,421,551 - 52,777,135 (+)NCBI
CHM1_11855,883,979 - 56,063,999 (+)NCBI
T2T-CHM13v2.01858,422,304 - 58,602,299 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001144967   ⟹   NP_001138439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,226 - 58,401,539 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
HuRef1852,421,551 - 52,777,135 (+)NCBI
CHM1_11855,707,037 - 56,063,999 (+)NCBI
T2T-CHM13v2.01858,244,126 - 58,602,299 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001144968   ⟹   NP_001138440
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,149,320 - 58,401,539 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
HuRef1852,421,551 - 52,777,135 (+)NCBI
CHM1_11855,811,790 - 56,063,999 (+)NCBI
T2T-CHM13v2.01858,348,856 - 58,602,299 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001144969   ⟹   NP_001138441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,149,320 - 58,401,539 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
HuRef1852,421,551 - 52,777,135 (+)NCBI
CHM1_11855,811,790 - 56,063,999 (+)NCBI
T2T-CHM13v2.01858,348,856 - 58,602,299 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001144970   ⟹   NP_001138442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,195,405 - 58,401,539 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
HuRef1852,421,551 - 52,777,135 (+)NCBI
CHM1_11855,857,928 - 56,063,999 (+)NCBI
T2T-CHM13v2.01858,395,313 - 58,602,299 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001144971   ⟹   NP_001138443
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,149,320 - 58,401,539 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
HuRef1852,421,551 - 52,777,135 (+)NCBI
CHM1_11855,811,790 - 56,063,999 (+)NCBI
T2T-CHM13v2.01858,348,856 - 58,602,299 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243960   ⟹   NP_001230889
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,226 - 58,401,539 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
HuRef1852,421,551 - 52,777,135 (+)NCBI
CHM1_11855,707,037 - 56,063,999 (+)NCBI
T2T-CHM13v2.01858,244,126 - 58,602,299 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015277   ⟹   NP_056092
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,226 - 58,401,539 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
Build 361853,862,778 - 54,216,369 (+)NCBI Archive
HuRef1852,421,551 - 52,777,135 (+)NCBI
CHM1_11855,707,037 - 56,063,999 (+)NCBI
T2T-CHM13v2.01858,244,126 - 58,602,299 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266658   ⟹   XP_005266715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,255,516 - 58,401,540 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266660   ⟹   XP_005266717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,255,516 - 58,401,540 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266663   ⟹   XP_005266720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,255,516 - 58,401,540 (+)NCBI
GRCh371855,711,580 - 56,068,772 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722421   ⟹   XP_006722484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,255,516 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722424   ⟹   XP_006722487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,255,516 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722425   ⟹   XP_006722488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,255,516 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722426   ⟹   XP_006722489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,226 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722428   ⟹   XP_006722491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,226 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722430   ⟹   XP_006722493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,195,405 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525887   ⟹   XP_011524189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,149,320 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025676   ⟹   XP_016881165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,255,516 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025677   ⟹   XP_016881166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,255,516 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025678   ⟹   XP_016881167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,226 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025679   ⟹   XP_016881168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,195,405 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025681   ⟹   XP_016881170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,195,405 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451129   ⟹   XP_024306897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,045,934 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451131   ⟹   XP_024306899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,045,934 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451134   ⟹   XP_024306902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,149,320 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451135   ⟹   XP_024306903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,045,657 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451136   ⟹   XP_024306904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,045,657 - 58,401,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437402   ⟹   XP_047293358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,045,934 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437403   ⟹   XP_047293359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,128,853 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437404   ⟹   XP_047293360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,045,934 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437405   ⟹   XP_047293361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,128,853 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437406   ⟹   XP_047293362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,226 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437407   ⟹   XP_047293363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,226 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437408   ⟹   XP_047293364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,226 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437409   ⟹   XP_047293365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,087,826 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437410   ⟹   XP_047293366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,087,826 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437411   ⟹   XP_047293367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,165,788 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437412   ⟹   XP_047293368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,165,788 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437413   ⟹   XP_047293369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,165,788 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437414   ⟹   XP_047293370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,149,320 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437415   ⟹   XP_047293371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,196,739 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437416   ⟹   XP_047293372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,196,739 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437417   ⟹   XP_047293373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,045,657 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437418   ⟹   XP_047293374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,045,657 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437419   ⟹   XP_047293375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,045,657 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437420   ⟹   XP_047293376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,045,657 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_047437421   ⟹   XP_047293377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,226 - 58,401,540 (+)NCBI
RefSeq Acc Id: XM_054318382   ⟹   XP_054174357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,452,807 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318383   ⟹   XP_054174358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,452,807 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318384   ⟹   XP_054174359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,452,807 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318385   ⟹   XP_054174360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,452,807 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318386   ⟹   XP_054174361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,452,807 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318387   ⟹   XP_054174362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,452,807 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318388   ⟹   XP_054174363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,452,807 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318389   ⟹   XP_054174364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,452,807 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318390   ⟹   XP_054174365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,245,747 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318391   ⟹   XP_054174366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,245,870 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318392   ⟹   XP_054174367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,328,718 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318393   ⟹   XP_054174368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,245,747 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318394   ⟹   XP_054174369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,244,126 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318395   ⟹   XP_054174370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,348,856 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318396   ⟹   XP_054174371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,328,718 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318397   ⟹   XP_054174372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,245,748 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318398   ⟹   XP_054174373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,244,126 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318399   ⟹   XP_054174374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,244,126 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318400   ⟹   XP_054174375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,244,126 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318401   ⟹   XP_054174376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,244,126 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318402   ⟹   XP_054174377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,287,705 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318403   ⟹   XP_054174378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,244,126 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318404   ⟹   XP_054174379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,287,705 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318405   ⟹   XP_054174380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,365,326 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318406   ⟹   XP_054174381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,365,326 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318407   ⟹   XP_054174382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,365,326 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318408   ⟹   XP_054174383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,395,313 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318409   ⟹   XP_054174384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,348,856 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318410   ⟹   XP_054174385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,348,856 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318411   ⟹   XP_054174386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,395,313 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318412   ⟹   XP_054174387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,245,575 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318413   ⟹   XP_054174388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,245,597 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318414   ⟹   XP_054174389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,245,606 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318415   ⟹   XP_054174390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,245,589 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318416   ⟹   XP_054174391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,245,575 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318417   ⟹   XP_054174392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,245,581 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318418   ⟹   XP_054174393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,244,126 - 58,602,300 (+)NCBI
RefSeq Acc Id: XM_054318419   ⟹   XP_054174394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01858,395,313 - 58,602,300 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001138436 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138437 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138438 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138439 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138440 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138441 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138442 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138443 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230889 (Get FASTA)   NCBI Sequence Viewer  
  NP_056092 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266715 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266717 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266720 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722484 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722487 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722488 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722489 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722491 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722493 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524189 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881165 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881166 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881167 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881168 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881170 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306897 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306899 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306902 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306903 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306904 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293358 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293359 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293360 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293361 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293362 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293363 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293364 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293365 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293366 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293367 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293368 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293369 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293370 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293371 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293372 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293373 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293374 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293375 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293376 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293377 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174357 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174358 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174359 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174360 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174361 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174362 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174363 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174364 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174365 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174366 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174367 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174368 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174369 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174370 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174371 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174372 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174373 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174374 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174375 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174376 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174377 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174378 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174379 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174380 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174381 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174382 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174383 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174384 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174385 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174386 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174387 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174388 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174389 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174390 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174391 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174392 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174393 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174394 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG43524 (Get FASTA)   NCBI Sequence Viewer  
  AAH00621 (Get FASTA)   NCBI Sequence Viewer  
  AAH19345 (Get FASTA)   NCBI Sequence Viewer  
  AAH32597 (Get FASTA)   NCBI Sequence Viewer  
  AAM46208 (Get FASTA)   NCBI Sequence Viewer  
  AAM76728 (Get FASTA)   NCBI Sequence Viewer  
  AAM76729 (Get FASTA)   NCBI Sequence Viewer  
  AAM76730 (Get FASTA)   NCBI Sequence Viewer  
  AAP75706 (Get FASTA)   NCBI Sequence Viewer  
  AAP97872 (Get FASTA)   NCBI Sequence Viewer  
  AAP97873 (Get FASTA)   NCBI Sequence Viewer  
  AAU95503 (Get FASTA)   NCBI Sequence Viewer  
  ABA10330 (Get FASTA)   NCBI Sequence Viewer  
  BAA23711 (Get FASTA)   NCBI Sequence Viewer  
  BAB69424 (Get FASTA)   NCBI Sequence Viewer  
  BAH11935 (Get FASTA)   NCBI Sequence Viewer  
  BAH13286 (Get FASTA)   NCBI Sequence Viewer  
  CAB70754 (Get FASTA)   NCBI Sequence Viewer  
  CAS01775 (Get FASTA)   NCBI Sequence Viewer  
  EAW63064 (Get FASTA)   NCBI Sequence Viewer  
  EAW63065 (Get FASTA)   NCBI Sequence Viewer  
  EAW63066 (Get FASTA)   NCBI Sequence Viewer  
  EAW63067 (Get FASTA)   NCBI Sequence Viewer  
  EAW63068 (Get FASTA)   NCBI Sequence Viewer  
  EAW63069 (Get FASTA)   NCBI Sequence Viewer  
  EAW63070 (Get FASTA)   NCBI Sequence Viewer  
  EAW63071 (Get FASTA)   NCBI Sequence Viewer  
  EAW63072 (Get FASTA)   NCBI Sequence Viewer  
  EAW63073 (Get FASTA)   NCBI Sequence Viewer  
  EAW63074 (Get FASTA)   NCBI Sequence Viewer  
  EAW63075 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000256830.8
  ENSP00000348847
  ENSP00000348847.5
  ENSP00000350569
  ENSP00000350569.4
  ENSP00000372301
  ENSP00000372301.3
  ENSP00000383199
  ENSP00000383199.2
  ENSP00000389406
  ENSP00000389406.1
  ENSP00000393395
  ENSP00000393395.1
  ENSP00000405440
  ENSP00000405440.1
  ENSP00000411947
  ENSP00000411947.1
  ENSP00000465669.1
  ENSP00000466776.1
  ENSP00000466789.1
  ENSP00000467072.1
  ENSP00000467768.1
  ENSP00000468332
  ENSP00000468332.1
  ENSP00000468546
  ENSP00000468546.1
  ENSP00000479462.1
  ENSP00000490696
  ENSP00000490696.1
  ENSP00000501665.1
  ENSP00000501840.1
  ENSP00000502003.1
  ENSP00000502105.1
  ENSP00000502133.1
  ENSP00000502309.1
  ENSP00000502325.1
  ENSP00000502361.1
  ENSP00000502428
  ENSP00000502428.1
  ENSP00000502649.1
  ENSP00000502688
  ENSP00000502688.1
  ENSP00000502761.1
  ENSP00000505573.1
GenBank Protein Q96PU5 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001138439   ⟸   NM_001144967
- Peptide Label: isoform 1
- UniProtKB: Q9H2W4 (UniProtKB/Swiss-Prot),   Q9BW58 (UniProtKB/Swiss-Prot),   Q8WUU9 (UniProtKB/Swiss-Prot),   Q8N5A7 (UniProtKB/Swiss-Prot),   Q7Z5N3 (UniProtKB/Swiss-Prot),   Q7Z5F2 (UniProtKB/Swiss-Prot),   Q7Z5F1 (UniProtKB/Swiss-Prot),   Q3LSM7 (UniProtKB/Swiss-Prot),   O43165 (UniProtKB/Swiss-Prot),   Q9NT88 (UniProtKB/Swiss-Prot),   Q96PU5 (UniProtKB/Swiss-Prot),   A0A6Q8PFI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_056092   ⟸   NM_015277
- Peptide Label: isoform 3
- UniProtKB: A0A6Q8PFI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138436   ⟸   NM_001144964
- Peptide Label: isoform 2
- UniProtKB: B7Z6K0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138443   ⟸   NM_001144971
- Peptide Label: isoform 6
- UniProtKB: B7Z2P9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138437   ⟸   NM_001144965
- Peptide Label: isoform 2
- UniProtKB: B7Z6K0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138440   ⟸   NM_001144968
- Peptide Label: isoform 4
- UniProtKB: A0A6Q8PFI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138441   ⟸   NM_001144969
- Peptide Label: isoform 5
- UniProtKB: A0A6Q8PFI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138442   ⟸   NM_001144970
- Peptide Label: isoform 6
- UniProtKB: B7Z2P9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138438   ⟸   NM_001144966
- Peptide Label: isoform 2
- UniProtKB: B7Z6K0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230889   ⟸   NM_001243960
- Peptide Label: isoform 7
- UniProtKB: A0A6Q8PFI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005266715   ⟸   XM_005266658
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005266717   ⟸   XM_005266660
- Peptide Label: isoform X2
- UniProtKB: A0A1B0GVY1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005266720   ⟸   XM_005266663
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006722489   ⟸   XM_006722426
- Peptide Label: isoform X11
- UniProtKB: A0A6Q8PFI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006722491   ⟸   XM_006722428
- Peptide Label: isoform X15
- UniProtKB: A0A6Q8PFI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006722493   ⟸   XM_006722430
- Peptide Label: isoform X22
- UniProtKB: B7Z6K0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006722484   ⟸   XM_006722421
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006722487   ⟸   XM_006722424
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_006722488   ⟸   XM_006722425
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011524189   ⟸   XM_011525887
- Peptide Label: isoform X12
- UniProtKB: A0A6Q8PFI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881167   ⟸   XM_017025678
- Peptide Label: isoform X18
- UniProtKB: A0A6Q8PFI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881168   ⟸   XM_017025679
- Peptide Label: isoform X9
- UniProtKB: B7Z6K0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881170   ⟸   XM_017025681
- Peptide Label: isoform X21
- UniProtKB: K7ERN1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881165   ⟸   XM_017025676
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016881166   ⟸   XM_017025677
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024306904   ⟸   XM_024451136
- Peptide Label: isoform X10
- UniProtKB: B7Z2P9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306903   ⟸   XM_024451135
- Peptide Label: isoform X10
- UniProtKB: B7Z2P9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306897   ⟸   XM_024451129
- Peptide Label: isoform X9
- UniProtKB: B7Z6K0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306899   ⟸   XM_024451131
- Peptide Label: isoform X10
- UniProtKB: B7Z2P9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306902   ⟸   XM_024451134
- Peptide Label: isoform X22
- UniProtKB: B7Z6K0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000490696   ⟸   ENST00000635997
RefSeq Acc Id: ENSP00000256830   ⟸   ENST00000256830
RefSeq Acc Id: ENSP00000383199   ⟸   ENST00000400345
RefSeq Acc Id: ENSP00000468546   ⟸   ENST00000586263
RefSeq Acc Id: ENSP00000467072   ⟸   ENST00000586268
RefSeq Acc Id: ENSP00000467768   ⟸   ENST00000587190
RefSeq Acc Id: ENSP00000468332   ⟸   ENST00000587881
RefSeq Acc Id: ENSP00000405440   ⟸   ENST00000456173
RefSeq Acc Id: ENSP00000466789   ⟸   ENST00000588494
RefSeq Acc Id: ENSP00000411947   ⟸   ENST00000456986
RefSeq Acc Id: ENSP00000465669   ⟸   ENST00000589054
RefSeq Acc Id: ENSP00000389406   ⟸   ENST00000431212
RefSeq Acc Id: ENSP00000479462   ⟸   ENST00000617539
RefSeq Acc Id: ENSP00000348847   ⟸   ENST00000356462
RefSeq Acc Id: ENSP00000466776   ⟸   ENST00000592846
RefSeq Acc Id: ENSP00000393395   ⟸   ENST00000435432
RefSeq Acc Id: ENSP00000350569   ⟸   ENST00000357895
RefSeq Acc Id: ENSP00000372301   ⟸   ENST00000382850
RefSeq Acc Id: ENSP00000501665   ⟸   ENST00000674517
RefSeq Acc Id: ENSP00000502309   ⟸   ENST00000674845
RefSeq Acc Id: ENSP00000502688   ⟸   ENST00000675801
RefSeq Acc Id: ENSP00000502428   ⟸   ENST00000675502
RefSeq Acc Id: ENSP00000502003   ⟸   ENST00000675865
RefSeq Acc Id: ENSP00000502761   ⟸   ENST00000675221
RefSeq Acc Id: ENSP00000502649   ⟸   ENST00000675227
RefSeq Acc Id: ENSP00000501840   ⟸   ENST00000675147
RefSeq Acc Id: ENSP00000502133   ⟸   ENST00000675101
RefSeq Acc Id: ENSP00000502361   ⟸   ENST00000676223
RefSeq Acc Id: ENSP00000502325   ⟸   ENST00000676226
RefSeq Acc Id: ENSP00000502105   ⟸   ENST00000676024
RefSeq Acc Id: ENSP00000505573   ⟸   ENST00000679791
RefSeq Acc Id: XP_047293362   ⟸   XM_047437406
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047293363   ⟸   XM_047437407
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047293364   ⟸   XM_047437408
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047293377   ⟸   XM_047437421
- Peptide Label: isoform X24
RefSeq Acc Id: XP_047293374   ⟸   XM_047437418
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047293376   ⟸   XM_047437420
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047293375   ⟸   XM_047437419
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047293373   ⟸   XM_047437417
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047293358   ⟸   XM_047437402
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047293360   ⟸   XM_047437404
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047293365   ⟸   XM_047437409
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047293366   ⟸   XM_047437410
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047293359   ⟸   XM_047437403
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047293361   ⟸   XM_047437405
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047293370   ⟸   XM_047437414
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047293367   ⟸   XM_047437411
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047293369   ⟸   XM_047437413
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047293368   ⟸   XM_047437412
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047293371   ⟸   XM_047437415
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047293372   ⟸   XM_047437416
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054174369   ⟸   XM_054318394
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054174373   ⟸   XM_054318398
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054174374   ⟸   XM_054318399
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054174376   ⟸   XM_054318401
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054174375   ⟸   XM_054318400
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054174378   ⟸   XM_054318403
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054174393   ⟸   XM_054318418
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054174387   ⟸   XM_054318412
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054174391   ⟸   XM_054318416
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054174392   ⟸   XM_054318417
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054174390   ⟸   XM_054318415
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054174388   ⟸   XM_054318413
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054174389   ⟸   XM_054318414
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054174365   ⟸   XM_054318390
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054174368   ⟸   XM_054318393
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054174372   ⟸   XM_054318397
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054174366   ⟸   XM_054318391
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054174377   ⟸   XM_054318402
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054174379   ⟸   XM_054318404
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054174367   ⟸   XM_054318392
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054174371   ⟸   XM_054318396
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054174385   ⟸   XM_054318410
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054174384   ⟸   XM_054318409
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054174370   ⟸   XM_054318395
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054174380   ⟸   XM_054318405
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054174382   ⟸   XM_054318407
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054174381   ⟸   XM_054318406
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054174383   ⟸   XM_054318408
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054174386   ⟸   XM_054318411
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054174394   ⟸   XM_054318419
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054174357   ⟸   XM_054318382
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174358   ⟸   XM_054318383
- Peptide Label: isoform X2
- UniProtKB: A0A1B0GVY1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174359   ⟸   XM_054318384
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174360   ⟸   XM_054318385
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054174361   ⟸   XM_054318386
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054174362   ⟸   XM_054318387
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054174363   ⟸   XM_054318388
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054174364   ⟸   XM_054318389
- Peptide Label: isoform X8
Protein Domains
C2   HECT   WW

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96PU5-F1-model_v2 AlphaFold Q96PU5 1-975 view protein structure

Promoters
RGD ID:6794942
Promoter ID:HG_KWN:28088
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000382850,   NM_001144967,   NM_015277,   UC002LGZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361853,861,951 - 53,862,857 (+)MPROMDB
RGD ID:6794944
Promoter ID:HG_KWN:28091
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001144965,   NM_001144968,   NM_001144969,   NM_001144971
Position:
Human AssemblyChrPosition (strand)Source
Build 361853,967,106 - 53,967,606 (+)MPROMDB
RGD ID:6794943
Promoter ID:HG_KWN:28093
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:NM_001144970
Position:
Human AssemblyChrPosition (strand)Source
Build 361854,013,451 - 54,013,951 (+)MPROMDB
RGD ID:6794964
Promoter ID:HG_KWN:28094
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001144966,   UC010DPL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361854,039,531 - 54,040,031 (+)MPROMDB
RGD ID:7237421
Promoter ID:EPDNEW_H24456
Type:initiation region
Name:NEDD4L_2
Description:neural precursor cell expressed, developmentally down-regulated4-like, E3 ubiquitin protein ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24457  EPDNEW_H24459  EPDNEW_H24458  EPDNEW_H24460  EPDNEW_H24461  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,284 - 58,044,344EPDNEW
RGD ID:7237423
Promoter ID:EPDNEW_H24457
Type:initiation region
Name:NEDD4L_6
Description:neural precursor cell expressed, developmentally down-regulated4-like, E3 ubiquitin protein ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24456  EPDNEW_H24459  EPDNEW_H24458  EPDNEW_H24460  EPDNEW_H24461  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,044,406 - 58,044,466EPDNEW
RGD ID:7237427
Promoter ID:EPDNEW_H24458
Type:initiation region
Name:NEDD4L_5
Description:neural precursor cell expressed, developmentally down-regulated4-like, E3 ubiquitin protein ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24456  EPDNEW_H24457  EPDNEW_H24459  EPDNEW_H24460  EPDNEW_H24461  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,045,693 - 58,045,753EPDNEW
RGD ID:7237425
Promoter ID:EPDNEW_H24459
Type:initiation region
Name:NEDD4L_4
Description:neural precursor cell expressed, developmentally down-regulated4-like, E3 ubiquitin protein ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24456  EPDNEW_H24457  EPDNEW_H24458  EPDNEW_H24460  EPDNEW_H24461  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,149,320 - 58,149,380EPDNEW
RGD ID:7237429
Promoter ID:EPDNEW_H24460
Type:initiation region
Name:NEDD4L_3
Description:neural precursor cell expressed, developmentally down-regulated4-like, E3 ubiquitin protein ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24456  EPDNEW_H24457  EPDNEW_H24459  EPDNEW_H24458  EPDNEW_H24461  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,195,441 - 58,195,501EPDNEW
RGD ID:7237433
Promoter ID:EPDNEW_H24461
Type:initiation region
Name:NEDD4L_1
Description:neural precursor cell expressed, developmentally down-regulated4-like, E3 ubiquitin protein ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24456  EPDNEW_H24457  EPDNEW_H24459  EPDNEW_H24458  EPDNEW_H24460  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381858,221,571 - 58,221,631EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7728 AgrOrtholog
COSMIC NEDD4L COSMIC
Ensembl Genes ENSG00000049759 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000256830.13 UniProtKB/Swiss-Prot
  ENST00000356462 ENTREZGENE
  ENST00000356462.10 UniProtKB/Swiss-Prot
  ENST00000357895 ENTREZGENE
  ENST00000357895.9 UniProtKB/Swiss-Prot
  ENST00000382850 ENTREZGENE
  ENST00000382850.8 UniProtKB/Swiss-Prot
  ENST00000400345 ENTREZGENE
  ENST00000400345.8 UniProtKB/Swiss-Prot
  ENST00000431212 ENTREZGENE
  ENST00000431212.6 UniProtKB/Swiss-Prot
  ENST00000435432 ENTREZGENE
  ENST00000435432.6 UniProtKB/Swiss-Prot
  ENST00000456173 ENTREZGENE
  ENST00000456173.6 UniProtKB/Swiss-Prot
  ENST00000456986 ENTREZGENE
  ENST00000456986.5 UniProtKB/Swiss-Prot
  ENST00000586263 ENTREZGENE
  ENST00000586263.5 UniProtKB/Swiss-Prot
  ENST00000586268.5 UniProtKB/TrEMBL
  ENST00000587190.5 UniProtKB/TrEMBL
  ENST00000587881 ENTREZGENE
  ENST00000587881.1 UniProtKB/TrEMBL
  ENST00000588494.5 UniProtKB/TrEMBL
  ENST00000589054.5 UniProtKB/TrEMBL
  ENST00000592846.5 UniProtKB/TrEMBL
  ENST00000617539.1 UniProtKB/TrEMBL
  ENST00000635997 ENTREZGENE
  ENST00000635997.1 UniProtKB/TrEMBL
  ENST00000674517.1 UniProtKB/Swiss-Prot
  ENST00000674845.1 UniProtKB/TrEMBL
  ENST00000675101.1 UniProtKB/TrEMBL
  ENST00000675147.1 UniProtKB/TrEMBL
  ENST00000675221.1 UniProtKB/TrEMBL
  ENST00000675227.1 UniProtKB/TrEMBL
  ENST00000675502 ENTREZGENE
  ENST00000675502.1 UniProtKB/Swiss-Prot
  ENST00000675801 ENTREZGENE
  ENST00000675801.1 UniProtKB/Swiss-Prot
  ENST00000675865.1 UniProtKB/Swiss-Prot
  ENST00000676024.1 UniProtKB/TrEMBL
  ENST00000676223.1 UniProtKB/TrEMBL
  ENST00000676226.1 UniProtKB/Swiss-Prot
  ENST00000679791.1 UniProtKB/TrEMBL
Gene3D-CATH 2.20.70.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hect, E3 ligase catalytic domain UniProtKB/Swiss-Prot
  Hect, E3 ligase catalytic domain UniProtKB/Swiss-Prot
  Hect, E3 ligase catalytic domain UniProtKB/TrEMBL
  Hect, E3 ligase catalytic domain UniProtKB/TrEMBL
  Hect, E3 ligase catalytic domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000049759 GTEx
HGNC ID HGNC:7728 ENTREZGENE
Human Proteome Map NEDD4L Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E3_ub_ligase_SMURF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HECT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hect_E3_ubiquitin_ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23327 UniProtKB/Swiss-Prot
NCBI Gene 23327 ENTREZGENE
OMIM 606384 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE NEDD4-LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HECT DOMAIN UBIQUITIN-PROTEIN LIGASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSCRIPTIONAL COACTIVATOR YORKIE UniProtKB/TrEMBL
  YES-ASSOCIATED PROTEIN YAP1 FAMILY MEMBER UniProtKB/TrEMBL
Pfam HECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00397 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31534 PharmGKB
PIRSF E3_ub_ligase_SMURF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS C2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HECTc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00456 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51045 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56204 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WVI6_HUMAN UniProtKB/TrEMBL
  A0A140TA85_HUMAN UniProtKB/TrEMBL
  A0A1B0GVY1 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PFI7 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PG51_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG81_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGL4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGP5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHE7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHJ5_HUMAN UniProtKB/TrEMBL
  A0A7P0Z498_HUMAN UniProtKB/TrEMBL
  B7Z2P9 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6K0 ENTREZGENE, UniProtKB/TrEMBL
  K7EKL1_HUMAN UniProtKB/TrEMBL
  K7EN51_HUMAN UniProtKB/TrEMBL
  K7ENS6_HUMAN UniProtKB/TrEMBL
  K7EQC5_HUMAN UniProtKB/TrEMBL
  K7ERN1 ENTREZGENE, UniProtKB/TrEMBL
  NED4L_HUMAN UniProtKB/Swiss-Prot
  O43165 ENTREZGENE
  Q3LSM7 ENTREZGENE
  Q5XLQ3_HUMAN UniProtKB/TrEMBL
  Q7Z5F1 ENTREZGENE
  Q7Z5F2 ENTREZGENE
  Q7Z5N3 ENTREZGENE
  Q8N5A7 ENTREZGENE
  Q8WUU9 ENTREZGENE
  Q96PU5 ENTREZGENE
  Q9BW58 ENTREZGENE
  Q9H2W4 ENTREZGENE
  Q9NT88 ENTREZGENE
UniProt Secondary O43165 UniProtKB/Swiss-Prot
  Q3LSM7 UniProtKB/Swiss-Prot
  Q7Z5F1 UniProtKB/Swiss-Prot
  Q7Z5F2 UniProtKB/Swiss-Prot
  Q7Z5N3 UniProtKB/Swiss-Prot
  Q8N5A7 UniProtKB/Swiss-Prot
  Q8WUU9 UniProtKB/Swiss-Prot
  Q9BW58 UniProtKB/Swiss-Prot
  Q9H2W4 UniProtKB/Swiss-Prot
  Q9NT88 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-09 NEDD4L  NEDD4 like E3 ubiquitin protein ligase  NEDD4L  neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase  Symbol and/or name change 5135510 APPROVED
2012-03-01 NEDD4L  neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase  NEDD4L  neural precursor cell expressed, developmentally down-regulated 4-like  Symbol and/or name change 5135510 APPROVED