UBE3A (ubiquitin protein ligase E3A) - Rat Genome Database

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Gene: UBE3A (ubiquitin protein ligase E3A) Homo sapiens
Analyze
Symbol: UBE3A
Name: ubiquitin protein ligase E3A
RGD ID: 1314934
HGNC Page HGNC:12496
Description: Enables ubiquitin protein ligase activity. Involved in several processes, including protein ubiquitination; regulation of protein metabolic process; and response to steroid hormone. Predicted to be located in cytoplasm and nucleus. Predicted to be part of proteasome complex. Predicted to be active in cytosol and glutamatergic synapse. Implicated in Angelman syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ANCR; Angelman syndrome chromosome region; AS; CTCL tumor antigen se37-2; E6-AP; E6AP ubiquitin-protein ligase; EPVE6AP; FLJ26981; HECT-type ubiquitin transferase E3A; HPVE6A; human papilloma virus E6-associated protein; human papillomavirus E6-associated protein; oncogenic protein-associated protein E6-AP; PIX1; renal carcinoma antigen NY-REN-54; ubiquitin-protein ligase E3A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: UBE3AP1   UBE3AP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381525,333,728 - 25,439,056 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1525,333,728 - 25,439,051 (-)EnsemblGRCh38hg38GRCh38
GRCh371525,578,875 - 25,684,203 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361523,133,489 - 23,235,221 (-)NCBINCBI36Build 36hg18NCBI36
Build 341523,133,488 - 23,235,221NCBI
Celera153,744,415 - 3,845,932 (-)NCBICelera
Cytogenetic Map15q11.2NCBI
HuRef153,706,895 - 3,808,683 (-)NCBIHuRef
CHM1_11525,531,939 - 25,633,637 (-)NCBICHM1_1
T2T-CHM13v2.01523,070,379 - 23,175,682 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal eating behavior  (IAGP)
Abnormal facial shape  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Absent speech  (IAGP)
Apraxia  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical absence seizure  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Blue irides  (IAGP)
Brachycephaly  (IAGP)
Brain imaging abnormality  (IAGP)
Broad-based gait  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cessation of head growth  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clumsiness  (IAGP)
Compulsive behaviors  (IAGP)
Constipation  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to walk  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Dysphagia  (IAGP)
EEG abnormality  (IAGP)
EEG with abnormally slow frequencies  (IAGP)
EEG with focal epileptiform discharges  (IAGP)
Epicanthus  (IAGP)
Esophageal atresia  (IAGP)
Exotropia  (IAGP)
Fair hair  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Finger syndactyly  (IAGP)
Flat occiput  (IAGP)
Functional motor deficit  (IAGP)
Gait imbalance  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Happy demeanor  (IAGP)
Heat intolerance  (IAGP)
Hyperactivity  (IAGP)
Hyperorality  (IAGP)
Hyperreflexia  (IAGP)
Hypopigmentation of hair  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypotonia  (IAGP)
Inappropriate laughter  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Iris hypopigmentation  (IAGP)
Joint hypermobility  (IAGP)
Limb tremor  (IAGP)
Limitation of movement at ankles  (IAGP)
Lower limb hyperreflexia  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Mandibular prognathia  (IAGP)
Mask-like facies  (IAGP)
Mild microcephaly  (IAGP)
Motor delay  (IAGP)
Myoclonus  (IAGP)
Myopia  (IAGP)
Neurodevelopmental delay  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Paroxysmal bursts of laughter  (IAGP)
Polyphagia  (IAGP)
Poor motor coordination  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Postnatal growth retardation  (IAGP)
Postural instability  (IAGP)
Progressive gait ataxia  (IAGP)
Protruding tongue  (IAGP)
Recurrent hand flapping  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Short stature  (IAGP)
Shortened sleep phase  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Tongue thrusting  (IAGP)
Tremor  (IAGP)
Wide mouth  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome. Berg EL, etal., Transl Psychiatry. 2020 Jan 27;10(1):39. doi: 10.1038/s41398-020-0720-2.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade. Huang L, etal., Science 1999 Nov 12;286(5443):1321-6.
4. UBE3A/E6-AP mutations cause Angelman syndrome. Kishino T, etal., Nat Genet 1997 Jan;15(1):70-3.
5. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. Lossie AC, etal., J Med Genet 2001 Dec;38(12):834-45.
6. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. Meng L, etal., Nature. 2015 Feb 19;518(7539):409-12. doi: 10.1038/nature13975. Epub 2014 Dec 1.
7. Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. Moncla A, etal., J Med Genet. 1999 Jul;36(7):554-60.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. Silva-Santos S, etal., J Clin Invest. 2015 May;125(5):2069-76. doi: 10.1172/JCI80554. Epub 2015 Apr 13.
Additional References at PubMed
PMID:1661671   PMID:7624774   PMID:7708685   PMID:7724550   PMID:8090726   PMID:8221889   PMID:8380895   PMID:8576257   PMID:8988172   PMID:9143503   PMID:9153201   PMID:9182527  
PMID:9288087   PMID:9288088   PMID:9369221   PMID:9450543   PMID:9465301   PMID:9467941   PMID:9575161   PMID:9585605   PMID:9688277   PMID:9792887   PMID:9852095   PMID:9858596  
PMID:9881696   PMID:9891052   PMID:9990509   PMID:10066826   PMID:10373495   PMID:10449731   PMID:10508479   PMID:10983987   PMID:11027293   PMID:11149944   PMID:11170455   PMID:11431533  
PMID:11460706   PMID:11486026   PMID:12075004   PMID:12095913   PMID:12207887   PMID:12477932   PMID:12481031   PMID:12609982   PMID:12620801   PMID:12725589   PMID:12890688   PMID:14517261  
PMID:14702039   PMID:14981718   PMID:15001357   PMID:15054837   PMID:15175323   PMID:15231748   PMID:15263005   PMID:15331633   PMID:15615769   PMID:15655249   PMID:15731267   PMID:15862967  
PMID:15890204   PMID:16051665   PMID:16254014   PMID:16314411   PMID:16344560   PMID:16482544   PMID:16493710   PMID:16546135   PMID:16708385   PMID:16713569   PMID:16772533   PMID:16905559  
PMID:16951183   PMID:17023019   PMID:17085449   PMID:17108031   PMID:17110338   PMID:17131388   PMID:17166906   PMID:17323924   PMID:17426036   PMID:17433363   PMID:17603074   PMID:17657785  
PMID:17765640   PMID:17942561   PMID:17962381   PMID:18186074   PMID:18193166   PMID:18201976   PMID:18256157   PMID:18298802   PMID:18361419   PMID:18487518   PMID:18612801   PMID:18775313  
PMID:19013454   PMID:19058789   PMID:19086053   PMID:19194825   PMID:19204938   PMID:19213023   PMID:19233847   PMID:19240029   PMID:19276448   PMID:19325566   PMID:19364824   PMID:19557195  
PMID:19563863   PMID:19591933   PMID:19700180   PMID:19723394   PMID:19899154   PMID:20034088   PMID:20039703   PMID:20157568   PMID:20167600   PMID:20301323   PMID:20351251   PMID:20589759  
PMID:20609483   PMID:20635355   PMID:20826237   PMID:20829392   PMID:20930542   PMID:20956852   PMID:21029865   PMID:21033666   PMID:21044367   PMID:21228227   PMID:21348951   PMID:21362313  
PMID:21493713   PMID:21530567   PMID:21553290   PMID:21633703   PMID:21653829   PMID:21765936   PMID:21768723   PMID:21832049   PMID:21873635   PMID:21900206   PMID:21947926   PMID:21988832  
PMID:22065487   PMID:22341959   PMID:22350887   PMID:22350919   PMID:22483108   PMID:22496338   PMID:22560727   PMID:22589186   PMID:22645313   PMID:22689861   PMID:22787151   PMID:22810586  
PMID:22863883   PMID:22865929   PMID:22898364   PMID:22939629   PMID:22986523   PMID:23040663   PMID:23251661   PMID:23256887   PMID:23283345   PMID:23393263   PMID:23416059   PMID:23439649  
PMID:23495136   PMID:23542176   PMID:23598402   PMID:23626758   PMID:23671107   PMID:23695783   PMID:23827681   PMID:23935506   PMID:24091829   PMID:24105792   PMID:24273172   PMID:24337433  
PMID:24363065   PMID:24656292   PMID:24722188   PMID:24728990   PMID:24743594   PMID:24796722   PMID:24811749   PMID:24981860   PMID:25212744   PMID:25231954   PMID:25262469   PMID:25315684  
PMID:25383876   PMID:25408199   PMID:25416956   PMID:25476789   PMID:25633294   PMID:25660546   PMID:25815718   PMID:25816213   PMID:25910212   PMID:25921289   PMID:26161728   PMID:26166566  
PMID:26186194   PMID:26216987   PMID:26224081   PMID:26255772   PMID:26261538   PMID:26288249   PMID:26318036   PMID:26496610   PMID:26506232   PMID:26511642   PMID:26585570   PMID:26789255  
PMID:26915086   PMID:26972000   PMID:27174604   PMID:27182664   PMID:27317649   PMID:27323320   PMID:27484051   PMID:27599063   PMID:27641331   PMID:27902311   PMID:27903893   PMID:27983539  
PMID:28074012   PMID:28190767   PMID:28244869   PMID:28292943   PMID:28477016   PMID:28514442   PMID:28559284   PMID:28578910   PMID:28586650   PMID:28786561   PMID:28821611   PMID:28835500  
PMID:28924046   PMID:28925810   PMID:28957379   PMID:29016856   PMID:29076503   PMID:29162042   PMID:29188609   PMID:29202468   PMID:29217762   PMID:29263404   PMID:29281732   PMID:29288669  
PMID:29388081   PMID:29426014   PMID:29463595   PMID:29467282   PMID:29507755   PMID:29511261   PMID:29643511   PMID:29737008   PMID:29788202   PMID:29955894   PMID:30020076   PMID:30021884  
PMID:30040487   PMID:30097011   PMID:30154397   PMID:30254168   PMID:30257870   PMID:30279242   PMID:30361475   PMID:30664221   PMID:30690483   PMID:30737286   PMID:30787400   PMID:30897394  
PMID:30920720   PMID:31073040   PMID:31091453   PMID:31182584   PMID:31235931   PMID:31329371   PMID:31492752   PMID:31515488   PMID:31681945   PMID:31729827   PMID:31783587   PMID:31812350  
PMID:31854050   PMID:31914913   PMID:31932471   PMID:31949242   PMID:31950832   PMID:31971989   PMID:31988313   PMID:31994269   PMID:32025036   PMID:32157086   PMID:32235678   PMID:32246052  
PMID:32296183   PMID:32416067   PMID:32545848   PMID:32639967   PMID:32652832   PMID:32694731   PMID:32723828   PMID:32783951   PMID:32819562   PMID:32833011   PMID:32855237   PMID:32871949  
PMID:32879944   PMID:32889787   PMID:32916124   PMID:33037390   PMID:33055385   PMID:33060197   PMID:33077731   PMID:33111431   PMID:33116122   PMID:33277362   PMID:33308194   PMID:33456993  
PMID:33462405   PMID:33474832   PMID:33542309   PMID:33607653   PMID:33737669   PMID:33853758   PMID:33856035   PMID:33961781   PMID:33995501   PMID:34079125   PMID:34147029   PMID:34203304  
PMID:34315543   PMID:34421347   PMID:34467244   PMID:34638625   PMID:34728620   PMID:34761751   PMID:34815418   PMID:34872019   PMID:34952616   PMID:35025136   PMID:35045253   PMID:35114328  
PMID:35150860   PMID:35216969   PMID:35271311   PMID:35358511   PMID:35368029   PMID:35439318   PMID:35530310   PMID:35531878   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36109631  
PMID:36114006   PMID:36114200   PMID:36215168   PMID:36298868   PMID:36613751   PMID:36898382   PMID:36920305   PMID:37454373   PMID:37541588   PMID:37616343   PMID:37689310   PMID:37827155  


Genomics

Comparative Map Data
UBE3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381525,333,728 - 25,439,056 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1525,333,728 - 25,439,051 (-)EnsemblGRCh38hg38GRCh38
GRCh371525,578,875 - 25,684,203 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361523,133,489 - 23,235,221 (-)NCBINCBI36Build 36hg18NCBI36
Build 341523,133,488 - 23,235,221NCBI
Celera153,744,415 - 3,845,932 (-)NCBICelera
Cytogenetic Map15q11.2NCBI
HuRef153,706,895 - 3,808,683 (-)NCBIHuRef
CHM1_11525,531,939 - 25,633,637 (-)NCBICHM1_1
T2T-CHM13v2.01523,070,379 - 23,175,682 (-)NCBIT2T-CHM13v2.0
Ube3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39758,871,891 - 58,960,585 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl758,878,498 - 58,961,284 (+)EnsemblGRCm39 Ensembl
GRCm38759,228,750 - 59,310,837 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl759,228,750 - 59,311,536 (+)EnsemblGRCm38mm10GRCm38
MGSCv37766,484,120 - 66,562,097 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36748,955,227 - 49,033,145 (+)NCBIMGSCv36mm8
MGSCv36759,096,619 - 59,174,596 (+)NCBIMGSCv36mm8
Cytogenetic Map7B5NCBI
cM Map733.95NCBI
Ube3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81119,204,244 - 119,297,097 (+)NCBIGRCr8
mRatBN7.21110,070,260 - 110,161,675 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1110,070,480 - 110,157,250 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1115,450,417 - 115,541,305 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01123,923,035 - 124,013,927 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01117,171,279 - 117,262,170 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01116,586,901 - 116,678,161 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1116,587,815 - 116,679,973 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01117,745,283 - 117,834,011 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41110,729,142 - 110,816,491 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11110,807,819 - 110,893,065 (+)NCBI
Celera1104,203,680 - 104,290,036 (+)NCBICelera
Cytogenetic Map1q22NCBI
Ube3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555333,733,148 - 3,821,577 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555333,733,148 - 3,828,353 (+)NCBIChiLan1.0ChiLan1.0
UBE3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2169,868,709 - 9,970,172 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11513,508,880 - 13,610,386 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0154,494,029 - 4,595,415 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11522,747,069 - 22,848,313 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1522,747,075 - 22,825,459 (-)Ensemblpanpan1.1panPan2
UBE3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1335,347,034 - 35,442,329 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl335,347,064 - 35,440,256 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha338,007,643 - 38,103,375 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0335,708,135 - 35,803,900 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl335,708,068 - 35,801,844 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1335,230,926 - 35,326,630 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0335,500,117 - 35,595,835 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0335,647,966 - 35,743,745 (+)NCBIUU_Cfam_GSD_1.0
Ube3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640123,339,609 - 123,442,282 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647141,187,612 - 41,283,517 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647141,187,665 - 41,290,345 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBE3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1141,887,227 - 141,995,003 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11141,887,179 - 142,001,595 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21157,783,503 - 157,881,397 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UBE3A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12656,638,936 - 56,738,555 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2656,666,162 - 56,736,737 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605439,545,194 - 39,648,255 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in UBE3A
583 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_130839.5(UBE3A):c.981A>G (p.Lys327=) single nucleotide variant Angelman syndrome [RCV000532075] Chr15:25371193 [GRCh38]
Chr15:25616340 [GRCh37]
Chr15:15q11.2
likely benign
Single allele deletion Prader-Willi syndrome [RCV000520873] Chr15:23707435..28520316 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NC_000015.9:g.(?_25584264)_(25654274_?)dup duplication Angelman syndrome [RCV000539666] Chr15:25339117..25409127 [GRCh38]
Chr15:25584264..25654274 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic|uncertain significance
UBE3A, 15-BP DEL/7-BP INS, NT3240 indel Angelman syndrome [RCV000023125] Chr15:15q11-q13 pathogenic
NM_130839.5(UBE3A):c.2246del (p.Pro749fs) deletion Angelman syndrome [RCV000144292] Chr15:25354562 [GRCh38]
Chr15:25599709 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2293C>T (p.Gln765Ter) single nucleotide variant Angelman syndrome [RCV000144293] Chr15:25354414 [GRCh38]
Chr15:25599561 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter) single nucleotide variant Angelman syndrome [RCV000144294] Chr15:25354402 [GRCh38]
Chr15:25599549 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2305del (p.Glu769fs) deletion Angelman syndrome [RCV000144295] Chr15:25354402 [GRCh38]
Chr15:25599549 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2307_2311dup (p.Thr771fs) duplication Angelman syndrome [RCV000144296] Chr15:25354395..25354396 [GRCh38]
Chr15:25599542..25599543 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2349dup (p.Ile784fs) duplication Angelman syndrome [RCV000144297] Chr15:25354357..25354358 [GRCh38]
Chr15:25599504..25599505 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2404_2405del (p.Phe802fs) deletion Angelman syndrome [RCV000144298] Chr15:25340178..25340179 [GRCh38]
Chr15:25585325..25585326 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs) microsatellite Angelman syndrome [RCV000144299]|not provided [RCV001092399] Chr15:25340150..25340153 [GRCh38]
Chr15:25585297..25585300 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2523_2581dup (p.Lys861delinsIleMetCysPheTyrPheArgAsnThrGlnAlaLysLysAsnLeuLysArgAspCysTer) duplication Angelman syndrome [RCV000144300] Chr15:25339174..25339175 [GRCh38]
Chr15:25584321..25584322 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2534T>A (p.Leu845Ter) single nucleotide variant Angelman syndrome [RCV000144301] Chr15:25339222 [GRCh38]
Chr15:25584369 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2538del (p.Pro847fs) deletion Angelman syndrome [RCV000144302] Chr15:25339218 [GRCh38]
Chr15:25584365 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2547_2614del (p.Ser850fs) deletion Angelman syndrome [RCV000144303] Chr15:25339142..25339209 [GRCh38]
Chr15:25584289..25584356 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter) single nucleotide variant Angelman syndrome [RCV000144304] Chr15:25339207 [GRCh38]
Chr15:25584354 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs) duplication Angelman syndrome [RCV000144305] Chr15:25339195..25339196 [GRCh38]
Chr15:25584342..25584343 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer) duplication Angelman syndrome [RCV000144306]|not provided [RCV001778754] Chr15:25339189..25339190 [GRCh38]
Chr15:25584336..25584337 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) deletion Angelman syndrome [RCV000144307]|not provided [RCV001008094] Chr15:25339188..25339189 [GRCh38]
Chr15:25584335..25584336 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic
NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?) deletion Angelman syndrome [RCV000144308] Chr15:25339131..25339140 [GRCh38]
Chr15:25584278..25584287 [GRCh37]
Chr15:15q11.2
pathogenic|benign
NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg) single nucleotide variant Angelman syndrome [RCV000144309]|Inborn genetic diseases [RCV000622521] Chr15:25360443 [GRCh38]
Chr15:25605590 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del) microsatellite Angelman syndrome [RCV000144310] Chr15:25356843..25356845 [GRCh38]
Chr15:25601990..25601992 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_130839.5(UBE3A):c.1810G>C (p.Glu604Gln) single nucleotide variant Angelman syndrome [RCV000144311] Chr15:25356840 [GRCh38]
Chr15:25601987 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2027C>T (p.Thr676Ile) single nucleotide variant Angelman syndrome [RCV000144312] Chr15:25355989 [GRCh38]
Chr15:25601136 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2129T>G (p.Phe710Cys) single nucleotide variant Angelman syndrome [RCV000144313] Chr15:25354679 [GRCh38]
Chr15:25599826 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2463GAT[1] (p.Met822del) microsatellite Angelman syndrome [RCV000144314] Chr15:25340115..25340117 [GRCh38]
Chr15:25585262..25585264 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) single nucleotide variant Angelman syndrome [RCV000144315]|Inborn genetic diseases [RCV002514772]|Neurodevelopmental disorder [RCV003389042] Chr15:25339216 [GRCh38]
Chr15:25584363 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic
NM_130839.5(UBE3A):c.2547_2567dup (p.Leu855_Lys856insAsnSerSerLysGluLysLeu) duplication Angelman syndrome [RCV000144316] Chr15:25339188..25339189 [GRCh38]
Chr15:25584335..25584336 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys) single nucleotide variant Angelman syndrome [RCV000144317] Chr15:25371797 [GRCh38]
Chr15:25616944 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_130839.5(UBE3A):c.770T>A (p.Leu257His) single nucleotide variant Angelman syndrome [RCV000144318] Chr15:25371404 [GRCh38]
Chr15:25616551 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1364T>C (p.Leu455Pro) single nucleotide variant Angelman syndrome [RCV000144319] Chr15:25370810 [GRCh38]
Chr15:25615957 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1490G>C (p.Arg497Pro) single nucleotide variant Angelman syndrome [RCV000144320] Chr15:25370684 [GRCh38]
Chr15:25615831 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1757T>A (p.Met586Lys) single nucleotide variant Angelman syndrome [RCV000144321] Chr15:25356893 [GRCh38]
Chr15:25602040 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.62+20G>A single nucleotide variant Angelman syndrome [RCV000144322] Chr15:25405441 [GRCh38]
Chr15:25650588 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg) single nucleotide variant Angelman syndrome [RCV000144323]|not provided [RCV000483509] Chr15:25371765 [GRCh38]
Chr15:25616912 [GRCh37]
Chr15:15q11.2
likely pathogenic|uncertain significance
NM_130839.5(UBE3A):c.869A>C (p.Asn290Thr) single nucleotide variant Angelman syndrome [RCV000144324] Chr15:25371305 [GRCh38]
Chr15:25616452 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1686TGA[1] (p.Asp563del) microsatellite Angelman syndrome [RCV000144325] Chr15:25360445..25360447 [GRCh38]
Chr15:25605592..25605594 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2281-42T>C single nucleotide variant Angelman syndrome [RCV000144326] Chr15:25354468 [GRCh38]
Chr15:25599615 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2354+20A>G single nucleotide variant Angelman syndrome [RCV000144328] Chr15:25354333 [GRCh38]
Chr15:25599480 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2499-31T>G single nucleotide variant Angelman syndrome [RCV000144330] Chr15:25339288 [GRCh38]
Chr15:25584435 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2499-37dup duplication Angelman syndrome [RCV000144331] Chr15:25339293..25339294 [GRCh38]
Chr15:25584440..25584441 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2499-40C>T single nucleotide variant Angelman syndrome [RCV000144332] Chr15:25339297 [GRCh38]
Chr15:25584444 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.361+29T>C single nucleotide variant Angelman syndrome [RCV000144333] Chr15:25375436 [GRCh38]
Chr15:25620583 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.361+30G>A single nucleotide variant Angelman syndrome [RCV000144334] Chr15:25375435 [GRCh38]
Chr15:25620582 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.458T>G (p.Val153Gly) single nucleotide variant Angelman syndrome [RCV000144335] Chr15:25371716 [GRCh38]
Chr15:25616863 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) single nucleotide variant Angelman syndrome [RCV000144337]|Inborn genetic diseases [RCV002316923]|not provided [RCV000488159] Chr15:25371110 [GRCh38]
Chr15:25616257 [GRCh37]
Chr15:15q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.1494G>A (p.Met498Ile) single nucleotide variant Angelman syndrome [RCV000144340] Chr15:25370680 [GRCh38]
Chr15:25615827 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1608+34T>C single nucleotide variant Angelman syndrome [RCV000144341] Chr15:25370532 [GRCh38]
Chr15:25615679 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1753+32G>A single nucleotide variant Angelman syndrome [RCV000144342] Chr15:25360351 [GRCh38]
Chr15:25605498 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1822C>G (p.Gln608Glu) single nucleotide variant Angelman syndrome [RCV000144343] Chr15:25356828 [GRCh38]
Chr15:25601975 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1823A>C (p.Gln608Pro) single nucleotide variant Angelman syndrome [RCV000144344] Chr15:25356827 [GRCh38]
Chr15:25601974 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2078T>G (p.Leu693Arg) single nucleotide variant Angelman syndrome [RCV000144345] Chr15:25355938 [GRCh38]
Chr15:25601085 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.63-19_63-17del deletion Angelman syndrome [RCV000144347] Chr15:25375780..25375782 [GRCh38]
Chr15:25620927..25620929 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser) single nucleotide variant Angelman syndrome [RCV000144350]|not provided [RCV001762325]|not specified [RCV000194329] Chr15:25371503 [GRCh38]
Chr15:25616650 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) single nucleotide variant Angelman syndrome [RCV000144351]|Inborn genetic diseases [RCV002512558]|not provided [RCV001719911] Chr15:25371359 [GRCh38]
Chr15:25616506 [GRCh37]
Chr15:15q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.915A>G (p.Leu305=) single nucleotide variant Angelman syndrome [RCV000144352] Chr15:25371259 [GRCh38]
Chr15:25616406 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2091T>C (p.Gly697=) single nucleotide variant Angelman syndrome [RCV000144355] Chr15:25355925 [GRCh38]
Chr15:25601072 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2124+19T>G single nucleotide variant Angelman syndrome [RCV000144357] Chr15:25355873 [GRCh38]
Chr15:25601020 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.2499-34del deletion Angelman syndrome [RCV000144358]|not provided [RCV003326357] Chr15:25339291 [GRCh38]
Chr15:25584438 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.*3CAAAA[2] (p.Ter873=) microsatellite Angelman syndrome [RCV000144359]|not provided [RCV001575275] Chr15:25339120..25339124 [GRCh38]
Chr15:25584267..25584271 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.*46del deletion Angelman syndrome [RCV000144360] Chr15:25339091 [GRCh38]
Chr15:25584238 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.159del (p.Cys54fs) deletion Angelman syndrome [RCV000144538] Chr15:25375667 [GRCh38]
Chr15:25620814 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.259_262dup (p.Gly88fs) duplication Angelman syndrome [RCV000144539] Chr15:25375563..25375564 [GRCh38]
Chr15:25620710..25620711 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.323_324del (p.Ile108fs) deletion Angelman syndrome [RCV000144540] Chr15:25375502..25375503 [GRCh38]
Chr15:25620649..25620650 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.335dup (p.Lys113fs) duplication Angelman syndrome [RCV000144541] Chr15:25375490..25375491 [GRCh38]
Chr15:25620637..25620638 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.337_340del (p.Lys113fs) deletion Angelman syndrome [RCV000144542] Chr15:25375486..25375489 [GRCh38]
Chr15:25620633..25620636 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer) microsatellite Angelman syndrome [RCV000144543]|not provided [RCV001532245] Chr15:25371799..25371802 [GRCh38]
Chr15:25616946..25616949 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.422_423del (p.Glu141fs) microsatellite Angelman syndrome [RCV000144544] Chr15:25371751..25371752 [GRCh38]
Chr15:25616898..25616899 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.463dup (p.Ser155fs) duplication Angelman syndrome [RCV000144545]|not provided [RCV002286703] Chr15:25371710..25371711 [GRCh38]
Chr15:25616857..25616858 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.607del (p.Asp203fs) deletion Angelman syndrome [RCV000144546] Chr15:25371567 [GRCh38]
Chr15:25616714 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.640dup (p.Ser214fs) duplication Angelman syndrome [RCV000144547] Chr15:25371533..25371534 [GRCh38]
Chr15:25616680..25616681 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.748G>T (p.Glu250Ter) single nucleotide variant Angelman syndrome [RCV000144548] Chr15:25371426 [GRCh38]
Chr15:25616573 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.777T>A (p.Tyr259Ter) single nucleotide variant Angelman syndrome [RCV000144549] Chr15:25371397 [GRCh38]
Chr15:25616544 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr) single nucleotide variant Angelman syndrome [RCV000144550]|not provided [RCV000724262] Chr15:25405461 [GRCh38]
Chr15:25650608 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_130839.5(UBE3A):c.362-2A>T single nucleotide variant Angelman syndrome [RCV000144551] Chr15:25371814 [GRCh38]
Chr15:25616961 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1754-2A>G single nucleotide variant Angelman syndrome [RCV000144552] Chr15:25356898 [GRCh38]
Chr15:25602045 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2125-2A>C single nucleotide variant Angelman syndrome [RCV000144553] Chr15:25354685 [GRCh38]
Chr15:25599832 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2618A>T (p.Ter873Leu) single nucleotide variant Angelman syndrome [RCV000144554] Chr15:25339138 [GRCh38]
Chr15:25584285 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.695A>T (p.Asp232Val) single nucleotide variant Angelman syndrome [RCV000144555] Chr15:25371479 [GRCh38]
Chr15:25616626 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro) single nucleotide variant Angelman syndrome [RCV000144556] Chr15:25371404 [GRCh38]
Chr15:25616551 [GRCh37]
Chr15:15q11.2
pathogenic|uncertain significance
NM_130839.5(UBE3A):c.848T>G (p.Leu283Trp) single nucleotide variant Angelman syndrome [RCV000144557] Chr15:25371326 [GRCh38]
Chr15:25616473 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1433C>T (p.Pro478Leu) single nucleotide variant Angelman syndrome [RCV000144558] Chr15:25370741 [GRCh38]
Chr15:25615888 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1425_1439del (p.Met475_Phe479del) deletion Angelman syndrome [RCV000144559] Chr15:25370735..25370749 [GRCh38]
Chr15:25615882..25615896 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.810T>A (p.Tyr270Ter) single nucleotide variant Angelman syndrome [RCV000144264] Chr15:25371364 [GRCh38]
Chr15:25616511 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1021C>T (p.Gln341Ter) single nucleotide variant Angelman syndrome [RCV000144265] Chr15:25371153 [GRCh38]
Chr15:25616300 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs) deletion Angelman syndrome [RCV000144266]|Inborn genetic diseases [RCV000623803] Chr15:25371136..25371142 [GRCh38]
Chr15:25616283..25616289 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1127dup (p.Tyr376Ter) duplication Angelman syndrome [RCV000144267] Chr15:25371046..25371047 [GRCh38]
Chr15:25616193..25616194 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1136dup (p.Asn379fs) duplication Angelman syndrome [RCV000144268] Chr15:25371037..25371038 [GRCh38]
Chr15:25616184..25616185 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1174G>T (p.Glu392Ter) single nucleotide variant Angelman syndrome [RCV000144269] Chr15:25371000 [GRCh38]
Chr15:25616147 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter) single nucleotide variant Angelman syndrome [RCV000144270]|Inborn genetic diseases [RCV000623493]|not provided [RCV003313042] Chr15:25370913 [GRCh38]
Chr15:25616060 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1330G>T (p.Glu444Ter) single nucleotide variant Angelman syndrome [RCV000144271] Chr15:25370844 [GRCh38]
Chr15:25615991 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1345G>T (p.Glu449Ter) single nucleotide variant Angelman syndrome [RCV000144272] Chr15:25370829 [GRCh38]
Chr15:25615976 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1415dup (p.Ser473fs) duplication Angelman syndrome [RCV000144273] Chr15:25370758..25370759 [GRCh38]
Chr15:25615905..25615906 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1421_1422del (p.Phe474fs) deletion Angelman syndrome [RCV000144274] Chr15:25370752..25370753 [GRCh38]
Chr15:25615899..25615900 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1431T>A (p.Cys477Ter) single nucleotide variant Angelman syndrome [RCV000144275] Chr15:25370743 [GRCh38]
Chr15:25615890 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1447del (p.Ala483fs) deletion Angelman syndrome [RCV000144276] Chr15:25370727 [GRCh38]
Chr15:25615874 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1565_1566del (p.Leu522fs) deletion Angelman syndrome [RCV000144277] Chr15:25370608..25370609 [GRCh38]
Chr15:25615755..25615756 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1597dup (p.Ala533fs) duplication Angelman syndrome [RCV000144278] Chr15:25370576..25370577 [GRCh38]
Chr15:25615723..25615724 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1631dup (p.Asn544fs) duplication Angelman syndrome [RCV000144279] Chr15:25360504..25360505 [GRCh38]
Chr15:25605651..25605652 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1668dup (p.Glu557Ter) duplication Angelman syndrome [RCV000144280] Chr15:25360467..25360468 [GRCh38]
Chr15:25605614..25605615 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1699_1702dup (p.Ser568fs) duplication Angelman syndrome [RCV000144281] Chr15:25360433..25360434 [GRCh38]
Chr15:25605580..25605581 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter) single nucleotide variant Angelman syndrome [RCV000144282] Chr15:25356860 [GRCh38]
Chr15:25602007 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1874_1884del (p.Ile625fs) deletion Angelman syndrome [RCV000144283] Chr15:25356766..25356776 [GRCh38]
Chr15:25601913..25601923 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1972_1973del (p.Ser658fs) microsatellite Angelman syndrome [RCV000144284] Chr15:25356043..25356044 [GRCh38]
Chr15:25601190..25601191 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2016_2023del (p.Met673fs) deletion Angelman syndrome [RCV000144285] Chr15:25355993..25356000 [GRCh38]
Chr15:25601140..25601147 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2017dup (p.Met673fs) duplication Angelman syndrome [RCV000144286] Chr15:25355998..25355999 [GRCh38]
Chr15:25601145..25601146 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter) single nucleotide variant Angelman syndrome [RCV000144287]|not provided [RCV003318554] Chr15:25355984 [GRCh38]
Chr15:25601131 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2032del (p.Gln678fs) deletion Angelman syndrome [RCV000144288] Chr15:25355984 [GRCh38]
Chr15:25601131 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2162_2163insTATT (p.Lys721fs) insertion Angelman syndrome [RCV000144289] Chr15:25354645..25354646 [GRCh38]
Chr15:25599792..25599793 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2230_2234dup (p.Tyr745Ter) duplication Angelman syndrome [RCV000144290] Chr15:25354573..25354574 [GRCh38]
Chr15:25599720..25599721 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2237T>A (p.Leu746Ter) single nucleotide variant Angelman syndrome [RCV000144291] Chr15:25354571 [GRCh38]
Chr15:25599718 [GRCh37]
Chr15:15q11.2
pathogenic
UBE3A, 5-BP DUP duplication Angelman syndrome [RCV000008427] Chr15:15q11-q13 pathogenic
UBE3A, IVS9, A-G, -8 single nucleotide variant Angelman syndrome [RCV000008428] Chr15:15q11-q13 pathogenic
UBE3A, 2-BP DEL, 1344GT deletion Angelman syndrome [RCV000008429] Chr15:15q11-q13 pathogenic
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter) single nucleotide variant Angelman syndrome [RCV000008430] Chr15:25370865 [GRCh38]
Chr15:25616012 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter) single nucleotide variant Angelman syndrome [RCV000008431] Chr15:25340219 [GRCh38]
Chr15:25585366 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.376A>C (p.Thr126Pro) single nucleotide variant Angelman syndrome [RCV000008432] Chr15:25371798 [GRCh38]
Chr15:25616945 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr) single nucleotide variant Angelman syndrome [RCV000008433] Chr15:25371725 [GRCh38]
Chr15:25616872 [GRCh37]
Chr15:15q11.2
pathogenic
UBE3A, 4-BP DEL, 3093AAGA deletion Angelman syndrome [RCV000008434] Chr15:15q11-q13 pathogenic
UBE3A, 2-BP DEL, 1930AG deletion Angelman syndrome [RCV000008435] Chr15:15q11-q13 pathogenic
NM_130839.5(UBE3A):c.*80_*83dup duplication Angelman syndrome [RCV000008436] Chr15:25339053..25339054 [GRCh38]
Chr15:25584200..25584201 [GRCh37]
Chr15:15q11.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000050782] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.20+7T>C single nucleotide variant not provided [RCV000728017] Chr15:25409081 [GRCh38]
Chr15:25654228 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.806C>T (p.Thr269Met) single nucleotide variant not provided [RCV000519760] Chr15:25371368 [GRCh38]
Chr15:25616515 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1621G>A (p.Ala541Thr) single nucleotide variant not provided [RCV000520155] Chr15:25360515 [GRCh38]
Chr15:25605662 [GRCh37]
Chr15:15q11.2
uncertain significance
NC_000015.10:g.(?_25339117)_(25409127_?)del deletion Angelman syndrome [RCV000524767] Chr15:25339117..25409127 [GRCh38]
Chr15:25584264..25654274 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1606C>T (p.Arg536Trp) single nucleotide variant not provided [RCV000518889] Chr15:25370568 [GRCh38]
Chr15:25615715 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130838.1(UBE3A):c.2+1801A>G single nucleotide variant Lung cancer [RCV000099343] Chr15:25403660 [GRCh38]
Chr15:25648807 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28785371)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|Global developmental delay [RCV000050782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|See cases [RCV000050782] Chr15:23319714..28785371 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000050783] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28314256)x1 copy number loss See cases [RCV000050850] Chr15:23411789..28314256 [GRCh38]
Chr15:23656936..28557186 [GRCh37]
Chr15:21208377..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2(chr15:25337273-25381835)x1 copy number loss See cases [RCV000050874] Chr15:25337273..25381835 [GRCh38]
Chr15:25582420..25626982 [GRCh37]
Chr15:23133513..23178075 [NCBI36]
Chr15:15q11.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 copy number gain See cases [RCV000050557] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 copy number loss See cases [RCV000050559] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000050742] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 copy number loss See cases [RCV000050733] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:25161216-28190742)x1 copy number loss See cases [RCV000051583] Chr15:25161216..28190742 [GRCh38]
Chr15:25406363..28435888 [GRCh37]
Chr15:22957456..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-12(chr15:25414685-25505084)x1 copy number loss See cases [RCV000051584] Chr15:25414685..25505084 [GRCh38]
Chr15:25659832..25750231 [GRCh37]
Chr15:23210925..23301324 [NCBI36]
Chr15:15q11.2-12
pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3 copy number gain See cases [RCV000051112] Chr15:23319714..32607357 [GRCh38]
Chr15:22698522..32899558 [GRCh37]
Chr15:20249886..30686850 [NCBI36]
Chr15:15q11.2-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000051053] Chr15:23319714..28314256 [GRCh38]
Chr15:23300238..28557186 [GRCh37]
Chr15:20851679..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3 copy number gain See cases [RCV000051813] Chr15:23319714..28681287 [GRCh38]
Chr15:23510051..28926433 [GRCh37]
Chr15:21061492..26725474 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23320410-28460005)x3 copy number gain See cases [RCV000051814] Chr15:23320410..28460005 [GRCh38]
Chr15:23565551..28812483 [GRCh37]
Chr15:21116992..26611524 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28446455)x3 copy number gain See cases [RCV000051816] Chr15:23411589..28446455 [GRCh38]
Chr15:23656736..28691601 [GRCh37]
Chr15:21208177..26365196 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28281294)x3 copy number gain See cases [RCV000051818] Chr15:23411789..28281294 [GRCh38]
Chr15:23656936..28526440 [GRCh37]
Chr15:21208377..26200035 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:24780911-29668996)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|See cases [RCV000051820] Chr15:24780911..29668996 [GRCh38]
Chr15:25026058..29961200 [GRCh37]
Chr15:22577151..27748492 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1 copy number loss See cases [RCV000052353] Chr15:23319714..30109283 [GRCh38]
Chr15:22669052..30401486 [GRCh37]
Chr15:20220416..28188778 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x1 copy number loss See cases [RCV000052355] Chr15:23319714..28275308 [GRCh38]
Chr15:22698322..28520454 [GRCh37]
Chr15:20249686..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000052356] Chr15:23319714..28446314 [GRCh38]
Chr15:22698522..28691460 [GRCh37]
Chr15:20249886..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000052357] Chr15:23319714..28275167 [GRCh38]
Chr15:22698522..28520313 [GRCh37]
Chr15:20249886..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28197267)x1 copy number loss See cases [RCV000052358] Chr15:23319714..28197267 [GRCh38]
Chr15:22779922..28442413 [GRCh37]
Chr15:20331286..26116008 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28446314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|See cases [RCV000052400] Chr15:23411789..28446314 [GRCh38]
Chr15:23656936..28691460 [GRCh37]
Chr15:21208377..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23450287-28446314)x1 copy number loss See cases [RCV000052402] Chr15:23450287..28446314 [GRCh38]
Chr15:23695434..28691460 [GRCh37]
Chr15:21246527..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28275308)x1 copy number loss See cases [RCV000052403] Chr15:23462105..28275308 [GRCh38]
Chr15:23707252..28520454 [GRCh37]
Chr15:21258345..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28190742)x1 copy number loss See cases [RCV000052406] Chr15:23462305..28190742 [GRCh38]
Chr15:23707452..28435888 [GRCh37]
Chr15:21258545..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23494211-28281294)x1 copy number loss See cases [RCV000052409] Chr15:23494211..28281294 [GRCh38]
Chr15:23739358..28526440 [GRCh37]
Chr15:21290451..26200035 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28269468)x1 copy number loss See cases [RCV000052410] Chr15:23537429..28269468 [GRCh38]
Chr15:23782576..28514614 [GRCh37]
Chr15:21333669..26188209 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28275167)x1 copy number loss See cases [RCV000052411] Chr15:23537429..28275167 [GRCh38]
Chr15:23782576..28520313 [GRCh37]
Chr15:21333669..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 copy number gain See cases [RCV000052339] Chr15:20002460..30349193 [GRCh38]
Chr15:20207713..30641396 [GRCh37]
Chr15:18467727..28428688 [NCBI36]
Chr15:15q11.1-13.2
pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 copy number gain See cases [RCV000052340] Chr15:20002460..32121422 [GRCh38]
Chr15:20207713..32413623 [GRCh37]
Chr15:18467727..30200915 [NCBI36]
Chr15:15q11.1-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 copy number loss See cases [RCV000052345] Chr15:22030646..28694952 [GRCh38]
Chr15:22318597..28940098 [GRCh37]
Chr15:19819961..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23337069-28272443)x1 copy number loss See cases [RCV000052372] Chr15:23337069..28272443 [GRCh38]
Chr15:23582216..28517589 [GRCh37]
Chr15:21133657..26191184 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28197267)x1 copy number loss See cases [RCV000052374] Chr15:23375083..28197267 [GRCh38]
Chr15:23620230..28442413 [GRCh37]
Chr15:21171671..26116008 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 copy number loss See cases [RCV000052348] Chr15:22144677..30349193 [GRCh38]
Chr15:22432628..30641396 [GRCh37]
Chr15:19933992..28428688 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28272443)x1 copy number loss See cases [RCV000052376] Chr15:23375083..28272443 [GRCh38]
Chr15:23620230..28517589 [GRCh37]
Chr15:21171671..26191184 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x3 copy number gain See cases [RCV000052378] Chr15:23398620..28190742 [GRCh38]
Chr15:23643767..28435888 [GRCh37]
Chr15:21195208..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x1 copy number loss See cases [RCV000052379] Chr15:23398620..28190742 [GRCh38]
Chr15:23643767..28435888 [GRCh37]
Chr15:21195208..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28446314)x1 copy number loss See cases [RCV000052380] Chr15:23398620..28446314 [GRCh38]
Chr15:23643767..28691460 [GRCh37]
Chr15:21195208..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28275308)x1 copy number loss See cases [RCV000052381] Chr15:23411589..28275308 [GRCh38]
Chr15:23656736..28520454 [GRCh37]
Chr15:21208177..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x3 copy number gain See cases [RCV000052349] Chr15:23319714..28190742 [GRCh38]
Chr15:22669052..28435888 [GRCh37]
Chr15:20220416..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1 copy number loss See cases [RCV000052350] Chr15:23319714..28190742 [GRCh38]
Chr15:22669052..28435888 [GRCh37]
Chr15:20220416..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 copy number gain See cases [RCV000052300] Chr15:19879749..28918517 [GRCh38]
Chr15:20085002..29210720 [GRCh37]
Chr15:18345016..26998012 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 copy number gain See cases [RCV000052301] Chr15:19879749..28702163 [GRCh38]
Chr15:20085002..28947309 [GRCh37]
Chr15:18345016..26746350 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 copy number gain See cases [RCV000052305] Chr15:19879750..27865713 [GRCh38]
Chr15:20085003..28178425 [GRCh37]
Chr15:18345017..25852020 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 copy number gain See cases [RCV000052308] Chr15:19905469..28163751 [GRCh38]
Chr15:20110722..28408897 [GRCh37]
Chr15:18370736..26082492 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 copy number gain See cases [RCV000053207] Chr15:20046515..28385894 [GRCh38]
Chr15:20251768..28631040 [GRCh37]
Chr15:18511782..26304635 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607498)x4 copy number gain See cases [RCV000053208] Chr15:23319714..32607498 [GRCh38]
Chr15:22698322..32899699 [GRCh37]
Chr15:20249686..30686991 [NCBI36]
Chr15:15q11.2-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|See cases [RCV000053210] Chr15:22358243..28481444 [GRCh38]
Chr15:22698322..28940239 [GRCh37]
Chr15:20249686..26739280 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Renal adysplasia [RCV000053224]|See cases [RCV000053224] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-12(chr15:23319714-27051075)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053226]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053226]|See cases [RCV000053226] Chr15:23319714..27051075 [GRCh38]
Chr15:22698522..27296222 [GRCh37]
Chr15:20249886..24878968 [NCBI36]
Chr15:15q11.2-12
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30527306)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|See cases [RCV000053227] Chr15:23319714..30527306 [GRCh38]
Chr15:22698522..30819509 [GRCh37]
Chr15:20249886..28606801 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053229] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|See cases [RCV000053230] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053231] Chr15:22358243..28481444 [GRCh38]
Chr15:22765428..28940239 [GRCh37]
Chr15:20316792..26739280 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 copy number gain See cases [RCV000053232] Chr15:23319714..28275167 [GRCh38]
Chr15:22765628..28520313 [GRCh37]
Chr15:20316992..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 copy number gain See cases [RCV000053233] Chr15:23319714..30073921 [GRCh38]
Chr15:22863854..30366124 [GRCh37]
Chr15:20415295..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446455)x3 copy number gain See cases [RCV000053234] Chr15:23319714..28446455 [GRCh38]
Chr15:23300038..28691601 [GRCh37]
Chr15:20851479..26365196 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|See cases [RCV000053235] Chr15:23319714..28275308 [GRCh38]
Chr15:23300038..28520454 [GRCh37]
Chr15:20851479..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_130838.1(UBE3A):c.1136C>T (p.Pro379Leu) single nucleotide variant Malignant melanoma [RCV000070704] Chr15:25370978 [GRCh38]
Chr15:25616125 [GRCh37]
Chr15:23167218 [NCBI36]
Chr15:15q11.2
not provided
NM_130838.1(UBE3A):c.1135C>T (p.Pro379Ser) single nucleotide variant Malignant melanoma [RCV000070705] Chr15:25370979 [GRCh38]
Chr15:25616126 [GRCh37]
Chr15:23167219 [NCBI36]
Chr15:15q11.2
not provided
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) single nucleotide variant Angelman syndrome [RCV000144339]|Inborn genetic diseases [RCV002316275]|not provided [RCV000714144]|not specified [RCV000082342] Chr15:25370905 [GRCh38]
Chr15:25616052 [GRCh37]
Chr15:15q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA (p.Arg536fs) indel not provided [RCV000177394] Chr15:25370566..25370567 [GRCh38]
Chr15:25615713..25615714 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=) single nucleotide variant Angelman syndrome [RCV000464266]|Inborn genetic diseases [RCV002311729]|not provided [RCV001647066]|not specified [RCV000082344] Chr15:25356877 [GRCh38]
Chr15:25602024 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.1933T>C (p.Phe645Leu) single nucleotide variant Angelman syndrome [RCV000803798]|UBE3A-related condition [RCV003415851]|not provided [RCV000082345] Chr15:25356717 [GRCh38]
Chr15:25601864 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2124+9T>C single nucleotide variant Angelman syndrome [RCV000144346]|not provided [RCV000858258]|not specified [RCV000082346] Chr15:25355883 [GRCh38]
Chr15:25601030 [GRCh37]
Chr15:15q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs) deletion Angelman syndrome [RCV002513849]|not provided [RCV000173915] Chr15:25339190..25339193 [GRCh38]
Chr15:25584337..25584340 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) single nucleotide variant Angelman syndrome [RCV000470827]|Inborn genetic diseases [RCV002313829]|not provided [RCV000443306]|not specified [RCV000082348] Chr15:25339138 [GRCh38]
Chr15:25584285 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) single nucleotide variant Angelman syndrome [RCV000144348]|Inborn genetic diseases [RCV002311730]|not specified [RCV000082349] Chr15:25371801 [GRCh38]
Chr15:25616948 [GRCh37]
Chr15:15q11.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) single nucleotide variant Angelman syndrome [RCV000144349]|Inborn genetic diseases [RCV002311731]|not specified [RCV000082350] Chr15:25371697 [GRCh38]
Chr15:25616844 [GRCh37]
Chr15:15q11.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) single nucleotide variant Angelman syndrome [RCV000227142]|Inborn genetic diseases [RCV002311732]|not specified [RCV000082351] Chr15:25371582 [GRCh38]
Chr15:25616729 [GRCh37]
Chr15:15q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.948_950del (p.Ala317del) deletion not provided [RCV000082352] Chr15:25371224..25371226 [GRCh38]
Chr15:25616371..25616373 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2273G>A (p.Gly758Glu) single nucleotide variant Angelman syndrome [RCV001004699] Chr15:25354535 [GRCh38]
Chr15:25599682 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.-153G>A single nucleotide variant not specified [RCV000126210] Chr15:25411960 [GRCh38]
Chr15:25657107 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) single nucleotide variant Angelman syndrome [RCV000144336]|Inborn genetic diseases [RCV002345433]|not provided [RCV000858785]|not specified [RCV000126214] Chr15:25371556 [GRCh38]
Chr15:25616703 [GRCh37]
Chr15:15q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) single nucleotide variant Angelman syndrome [RCV000144338]|not provided [RCV001711293]|not specified [RCV000126215] Chr15:25370995 [GRCh38]
Chr15:25616142 [GRCh37]
Chr15:15q11.2
benign|likely benign|uncertain significance
NM_130839.5(UBE3A):c.1185A>G (p.Glu395=) single nucleotide variant Angelman syndrome [RCV000463996]|Inborn genetic diseases [RCV002312890]|not specified [RCV000154107] Chr15:25370989 [GRCh38]
Chr15:25616136 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) single nucleotide variant Angelman syndrome [RCV000144353]|Inborn genetic diseases [RCV002312891]|not specified [RCV000177396] Chr15:25370770 [GRCh38]
Chr15:25615917 [GRCh37]
Chr15:15q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) single nucleotide variant Angelman syndrome [RCV000144354]|Inborn genetic diseases [RCV002316377]|not provided [RCV001705914]|not specified [RCV000192008] Chr15:25356883 [GRCh38]
Chr15:25602030 [GRCh37]
Chr15:15q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) single nucleotide variant Angelman syndrome [RCV000144329]|not provided [RCV000995272] Chr15:25340168 [GRCh38]
Chr15:25585315 [GRCh37]
Chr15:15q11.2
benign|likely benign|uncertain significance
NM_130839.5(UBE3A):c.1822_1823del (p.Gln608fs) deletion not provided [RCV000179007] Chr15:25356827..25356828 [GRCh38]
Chr15:25601974..25601975 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1314_1402del (p.Lys438fs) deletion Inborn genetic diseases [RCV000190730] Chr15:25370772..25370860 [GRCh38]
Chr15:25615919..25616007 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe) single nucleotide variant Angelman syndrome [RCV000147882]|See cases [RCV002274930]|not provided [RCV000144763] Chr15:25339193 [GRCh38]
Chr15:25584340 [GRCh37]
Chr15:15q11.2
likely pathogenic|uncertain significance
NM_130839.5(UBE3A):c.175C>T (p.Arg59Cys) single nucleotide variant Angelman syndrome [RCV002512563]|not provided [RCV000144764] Chr15:25375651 [GRCh38]
Chr15:25620798 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile) single nucleotide variant Angelman syndrome [RCV000144327]|Inborn genetic diseases [RCV002444596]|not specified [RCV000147880] Chr15:25354363 [GRCh38]
Chr15:25599510 [GRCh37]
Chr15:15q11.2
benign|likely benign|uncertain significance
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) single nucleotide variant Angelman syndrome [RCV000144356]|not provided [RCV000766996]|not specified [RCV000192972] Chr15:25355920 [GRCh38]
Chr15:25601067 [GRCh37]
Chr15:15q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.299C>T (p.Ala100Val) single nucleotide variant Angelman syndrome [RCV001910408] Chr15:25375527 [GRCh38]
Chr15:25620674 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-12(chr15:22833525-27193380)x4 copy number gain not provided [RCV001310299] Chr15:22833525..27193380 [GRCh37]
Chr15:15q11.2-12
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000050781] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x3 copy number gain See cases [RCV000053224] Chr15:23319714..30361733 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:20249886..28441228 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 copy number gain See cases [RCV000053230] Chr15:23319714..30073921 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:20249886..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly) single nucleotide variant Angelman syndrome [RCV001857494]|not provided [RCV001704063] Chr15:25371762 [GRCh38]
Chr15:25616909 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.442C>T (p.Arg148Cys) single nucleotide variant Angelman syndrome [RCV000233373] Chr15:25371732 [GRCh38]
Chr15:25616879 [GRCh37]
Chr15:15q11.2
likely pathogenic|uncertain significance
NM_130839.5(UBE3A):c.1305T>A (p.Asp435Glu) single nucleotide variant not provided [RCV000144768] Chr15:25370869 [GRCh38]
Chr15:25616016 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2355G>A (p.Arg785=) single nucleotide variant Angelman syndrome [RCV002515943]|not provided [RCV000144769] Chr15:25340228 [GRCh38]
Chr15:25585375 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.63-5T>G single nucleotide variant not provided [RCV000144818] Chr15:25375768 [GRCh38]
Chr15:25620915 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.199A>G (p.Ile67Val) single nucleotide variant Angelman syndrome [RCV002260624]|Inborn genetic diseases [RCV001266834]|not provided [RCV000144820] Chr15:25375627 [GRCh38]
Chr15:25620774 [GRCh37]
Chr15:15q11.2
likely pathogenic|uncertain significance
NM_130839.5(UBE3A):c.901A>G (p.Met301Val) single nucleotide variant not provided [RCV000144821] Chr15:25371273 [GRCh38]
Chr15:25616420 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2420C>T (p.Thr807Met) single nucleotide variant Angelman syndrome [RCV001216875]|not provided [RCV000144824] Chr15:25340163 [GRCh38]
Chr15:25585310 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1150G>T (p.Glu384Ter) single nucleotide variant Angelman syndrome [RCV000147859] Chr15:25371024 [GRCh38]
Chr15:25616171 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1170_1173del (p.Asn390fs) deletion Angelman syndrome [RCV000147860] Chr15:25371001..25371004 [GRCh38]
Chr15:25616148..25616151 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1176A>T (p.Glu392Asp) single nucleotide variant Angelman syndrome [RCV000147861]|not provided [RCV000523791] Chr15:25370998 [GRCh38]
Chr15:25616145 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1192A>C (p.Ile398Leu) single nucleotide variant Angelman syndrome [RCV000147862] Chr15:25370982 [GRCh38]
Chr15:25616129 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.176G>A (p.Arg59His) single nucleotide variant Angelman syndrome [RCV001762327]|not provided [RCV003237745]|not specified [RCV000147863] Chr15:25375650 [GRCh38]
Chr15:25620797 [GRCh37]
Chr15:15q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs) microsatellite Angelman syndrome [RCV000147864]|not provided [RCV003229812] Chr15:25370766..25370767 [GRCh38]
Chr15:25615913..25615914 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1521_1528del (p.Tyr508fs) deletion Angelman syndrome [RCV000147865] Chr15:25370646..25370653 [GRCh38]
Chr15:25615793..25615800 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1627G>T (p.Glu543Ter) single nucleotide variant Angelman syndrome [RCV000147866] Chr15:25360509 [GRCh38]
Chr15:25605656 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1659T>A (p.Tyr553Ter) single nucleotide variant Angelman syndrome [RCV000147867] Chr15:25360477 [GRCh38]
Chr15:25605624 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1694G>A (p.Gly565Glu) single nucleotide variant Angelman syndrome [RCV000147868] Chr15:25360442 [GRCh38]
Chr15:25605589 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser) single nucleotide variant Angelman syndrome [RCV000147869] Chr15:25360394 [GRCh38]
Chr15:25605541 [GRCh37]
Chr15:15q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.1748A>G (p.Asp583Gly) single nucleotide variant Angelman syndrome [RCV000147870] Chr15:25360388 [GRCh38]
Chr15:25605535 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1753+12A>G single nucleotide variant Angelman syndrome [RCV000147871] Chr15:25360371 [GRCh38]
Chr15:25605518 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1786_1790del (p.Phe596fs) deletion Angelman syndrome [RCV000147872] Chr15:25356860..25356864 [GRCh38]
Chr15:25602007..25602011 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1823A>G (p.Gln608Arg) single nucleotide variant Angelman syndrome [RCV000147873] Chr15:25356827 [GRCh38]
Chr15:25601974 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs) deletion Angelman syndrome [RCV000147874]|not provided [RCV001009253] Chr15:25356813..25356816 [GRCh38]
Chr15:25601960..25601963 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser) single nucleotide variant Angelman syndrome [RCV000147875]|Inborn genetic diseases [RCV000624655] Chr15:25356785 [GRCh38]
Chr15:25601932 [GRCh37]
Chr15:15q11.2
pathogenic|uncertain significance
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=) single nucleotide variant Angelman syndrome [RCV000147876]|Inborn genetic diseases [RCV002408652] Chr15:25356769 [GRCh38]
Chr15:25601916 [GRCh37]
Chr15:15q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp) single nucleotide variant Angelman syndrome [RCV001850008]|not specified [RCV000147877] Chr15:25355930 [GRCh38]
Chr15:25601077 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.2131G>A (p.Val711Ile) single nucleotide variant not specified [RCV000147878] Chr15:25354677 [GRCh38]
Chr15:25599824 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2280G>C (p.Arg760=) single nucleotide variant not specified [RCV000147879] Chr15:25354528 [GRCh38]
Chr15:25599675 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His) single nucleotide variant Angelman syndrome [RCV000147881] Chr15:25339211 [GRCh38]
Chr15:25584358 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs) deletion Angelman syndrome [RCV000147883]|Inborn genetic diseases [RCV000622970]|Intellectual disability [RCV001260843]|not provided [RCV000481125] Chr15:25339186..25339189 [GRCh38]
Chr15:25584333..25584336 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) single nucleotide variant Angelman syndrome [RCV000147884]|not provided [RCV000154106] Chr15:25339147 [GRCh38]
Chr15:25584294 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.328A>G (p.Met110Val) single nucleotide variant Angelman syndrome [RCV001850009]|not specified [RCV000147885] Chr15:25375498 [GRCh38]
Chr15:25620645 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs) deletion Angelman syndrome [RCV000147886]|not provided [RCV000414628] Chr15:25371793..25371797 [GRCh38]
Chr15:25616940..25616944 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.440del (p.Ile147fs) deletion Angelman syndrome [RCV000147887] Chr15:25371734 [GRCh38]
Chr15:25616881 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.448_459del (p.Ile150_Val153del) deletion Angelman syndrome [RCV000147888] Chr15:25371715..25371726 [GRCh38]
Chr15:25616862..25616873 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.565_571del (p.Glu189fs) deletion Angelman syndrome [RCV000147889] Chr15:25371603..25371609 [GRCh38]
Chr15:25616750..25616756 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter) single nucleotide variant Angelman syndrome [RCV000147891] Chr15:25371285 [GRCh38]
Chr15:25616432 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter) single nucleotide variant Angelman syndrome [RCV000147892] Chr15:25371150 [GRCh38]
Chr15:25616297 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28694922)x1 copy number loss See cases [RCV000134719] Chr15:23462288..28694922 [GRCh38]
Chr15:23707435..28940068 [GRCh37]
Chr15:21258528..26739109 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2(chr15:25337273-25342717)x3 copy number gain See cases [RCV000134165] Chr15:25337273..25342717 [GRCh38]
Chr15:25582420..25587864 [GRCh37]
Chr15:23133513..23138957 [NCBI36]
Chr15:15q11.2
uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23439508-28154050)x1 copy number loss See cases [RCV000134437] Chr15:23439508..28154050 [GRCh38]
Chr15:23684655..28399196 [GRCh37]
Chr15:21236096..26072791 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28275170)x1 copy number loss See cases [RCV000134053] Chr15:23462288..28275170 [GRCh38]
Chr15:23707435..28520316 [GRCh37]
Chr15:21258528..26193911 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28314291)x1 copy number loss See cases [RCV000134115] Chr15:23462288..28314291 [GRCh38]
Chr15:23707435..28557186 [GRCh37]
Chr15:21258528..26233032 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275170)x3 copy number gain See cases [RCV000134062] Chr15:23319714..28275170 [GRCh38]
Chr15:22765637..28520316 [GRCh37]
Chr15:20317001..26193911 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28347620)x1 copy number loss See cases [RCV000134074] Chr15:23319714..28347620 [GRCh38]
Chr15:23353638..28592766 [GRCh37]
Chr15:20905079..26266361 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134082] Chr15:22358243..28481444 [GRCh38]
Chr15:22652047..28705151 [GRCh37]
Chr15:20203411..26524679 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x1 copy number loss See cases [RCV000135313] Chr15:23328044..28154050 [GRCh38]
Chr15:22860857..28399196 [GRCh37]
Chr15:20412298..26072791 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28275170)x1 copy number loss See cases [RCV000134776] Chr15:23410917..28275170 [GRCh38]
Chr15:23656064..28520316 [GRCh37]
Chr15:21207505..26193911 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134755] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000134756] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x4 copy number gain See cases [RCV000135743] Chr15:23319714..30361733 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:20249886..28441228 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000135744] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 copy number gain See cases [RCV000135745] Chr15:23319714..30073921 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:20249886..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000135860] Chr15:23319714..28314256 [GRCh38]
Chr15:22698522..28557186 [GRCh37]
Chr15:20249886..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000135583] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..28940098 [GRCh37]
Chr15:20249886..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x3 copy number gain See cases [RCV000135505] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 copy number gain See cases [RCV000135506] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30073876)x4 copy number gain See cases [RCV000135973] Chr15:23319714..30073876 [GRCh38]
Chr15:22765637..30366079 [GRCh37]
Chr15:20317001..28153371 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 copy number loss See cases [RCV000135953] Chr15:23319714..38089582 [GRCh38]
Chr15:22698522..38381783 [GRCh37]
Chr15:20249886..36169075 [NCBI36]
Chr15:15q11.2-14
pathogenic
NM_130839.5(UBE3A):c.119G>T (p.Gly40Val) single nucleotide variant Angelman syndrome [RCV000202457] Chr15:25375707 [GRCh38]
Chr15:25620854 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1423A>G (p.Met475Val) single nucleotide variant Autism [RCV000202490]|Inborn genetic diseases [RCV003258697] Chr15:25370751 [GRCh38]
Chr15:25615898 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs) deletion Angelman syndrome [RCV000202543]|Inborn genetic diseases [RCV000622670]|UBE3A-related condition [RCV003401095] Chr15:25356778..25356779 [GRCh38]
Chr15:25601925..25601926 [GRCh37]
Chr15:15q11.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28290061)x1 copy number loss See cases [RCV000135892] Chr15:23462105..28290061 [GRCh38]
Chr15:23707252..28535207 [GRCh37]
Chr15:21258345..26208802 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28694952)x3 copy number gain See cases [RCV000137064] Chr15:23462305..28694952 [GRCh38]
Chr15:23707452..28940098 [GRCh37]
Chr15:21258545..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-12(chr15:25337273-25553323)x1 copy number loss See cases [RCV000136869] Chr15:25337273..25553323 [GRCh38]
Chr15:25582420..25798470 [GRCh37]
Chr15:23133513..23349563 [NCBI36]
Chr15:15q11.2-12
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x3 copy number gain See cases [RCV000137099] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28557186 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28314256)x1 copy number loss See cases [RCV000136950] Chr15:23462305..28314256 [GRCh38]
Chr15:23707452..28557186 [GRCh37]
Chr15:21258545..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x4 copy number gain See cases [RCV000137100] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28559402 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 copy number gain See cases [RCV000136964] Chr15:20480943..30217181 [GRCh38]
Chr15:20686196..30509384 [GRCh37]
Chr15:18946210..28296676 [NCBI36]
Chr15:15q11.1-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28280314)x1 copy number loss See cases [RCV000136811] Chr15:23319714..28280314 [GRCh38]
Chr15:22784523..28525460 [GRCh37]
Chr15:20335887..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23454554-28280314)x1 copy number loss See cases [RCV000136734] Chr15:23454554..28280314 [GRCh38]
Chr15:23699701..28525460 [GRCh37]
Chr15:21250794..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28280314)x3 copy number gain See cases [RCV000136752] Chr15:23411789..28280314 [GRCh38]
Chr15:23656936..28525460 [GRCh37]
Chr15:21208377..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4 copy number gain See cases [RCV000137578] Chr15:23319714..30361733 [GRCh38]
Chr15:22765628..30653936 [GRCh37]
Chr15:20316992..28441228 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2(chr15:25365789-25375524)x3 copy number gain See cases [RCV000137546] Chr15:25365789..25375524 [GRCh38]
Chr15:25610936..25620671 [GRCh37]
Chr15:23162029..23171764 [NCBI36]
Chr15:15q11.2
pathogenic|uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 copy number gain See cases [RCV000137630] Chr15:23319714..30073921 [GRCh38]
Chr15:22765628..30366124 [GRCh37]
Chr15:20316992..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x3 copy number gain See cases [RCV000137393] Chr15:23422864..28280314 [GRCh38]
Chr15:23668011..28525460 [GRCh37]
Chr15:21219452..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x1 copy number loss See cases [RCV000137394] Chr15:23422864..28280314 [GRCh38]
Chr15:23668011..28525460 [GRCh37]
Chr15:21219452..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23523934-28280314)x1 copy number loss See cases [RCV000137270] Chr15:23523934..28280314 [GRCh38]
Chr15:23769081..28525460 [GRCh37]
Chr15:21320174..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|likely pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000138132] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000138133] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000137945] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|likely benign
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28314256)x1 copy number loss See cases [RCV000137953] Chr15:23422864..28314256 [GRCh38]
Chr15:23668011..28557186 [GRCh37]
Chr15:21219452..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-12(chr15:23319714-25980547)x3 copy number gain See cases [RCV000137911] Chr15:23319714..25980547 [GRCh38]
Chr15:23179889..26225694 [GRCh37]
Chr15:20731330..23776787 [NCBI36]
Chr15:15q11.2-12
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28446301)x1 copy number loss See cases [RCV000138857] Chr15:23462288..28446301 [GRCh38]
Chr15:23707435..28691447 [GRCh37]
Chr15:21258528..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2(chr15:25334870-25351819)x3 copy number gain See cases [RCV000138793] Chr15:25334870..25351819 [GRCh38]
Chr15:25580017..25596966 [GRCh37]
Chr15:23131110..23148059 [NCBI36]
Chr15:15q11.2
pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 copy number gain See cases [RCV000138530] Chr15:23319714..38545325 [GRCh38]
Chr15:22765628..38837526 [GRCh37]
Chr15:20316992..36624818 [NCBI36]
Chr15:15q11.2-14
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3 copy number gain See cases [RCV000138622] Chr15:23319714..32607357 [GRCh38]
Chr15:22765637..32899558 [GRCh37]
Chr15:20317001..30686850 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1 copy number loss See cases [RCV000138308] Chr15:23319714..32384654 [GRCh38]
Chr15:22765628..32676855 [GRCh37]
Chr15:20316992..30464147 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28446301)x1 copy number loss See cases [RCV000139335] Chr15:23410917..28446301 [GRCh38]
Chr15:23656064..28691447 [GRCh37]
Chr15:21207505..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3 copy number gain See cases [RCV000139101] Chr15:23319714..31175232 [GRCh38]
Chr15:22765637..31467435 [GRCh37]
Chr15:20317001..29254727 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446301)x3 copy number gain See cases [RCV000139162] Chr15:23319714..28446301 [GRCh38]
Chr15:23300254..28691447 [GRCh37]
Chr15:20851695..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28638603)x4 copy number gain See cases [RCV000139948] Chr15:23328044..28638603 [GRCh38]
Chr15:22652060..28883749 [GRCh37]
Chr15:20203424..26682790 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28289312)x1 copy number loss See cases [RCV000139980] Chr15:23370621..28289312 [GRCh38]
Chr15:23615768..28534458 [GRCh37]
Chr15:21167209..26208053 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300209)x1 copy number loss See cases [RCV000139986] Chr15:23375044..28300209 [GRCh38]
Chr15:23620191..28545355 [GRCh37]
Chr15:21171632..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000140240] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28940098 [GRCh37]
Chr15:20316992..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28578576)x1 copy number loss See cases [RCV000140454] Chr15:23328044..28578576 [GRCh38]
Chr15:22770421..28823722 [GRCh37]
Chr15:20321785..26622763 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23999707-28314256)x1 copy number loss See cases [RCV000139647] Chr15:23999707..28314256 [GRCh38]
Chr15:24244854..28557186 [GRCh37]
Chr15:21795947..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3 copy number gain See cases [RCV000139610] Chr15:23319714..32217731 [GRCh38]
Chr15:22765637..32509932 [GRCh37]
Chr15:20317001..30297224 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000141251] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28976193 [GRCh37]
Chr15:20316992..26775234 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000140712] Chr15:23319714..28446314 [GRCh38]
Chr15:22765628..28691460 [GRCh37]
Chr15:20316992..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000140871] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29096442 [GRCh37]
Chr15:20316992..26895483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300209)x1 copy number loss See cases [RCV000140888] Chr15:23328044..28300209 [GRCh38]
Chr15:23286571..28545355 [GRCh37]
Chr15:20838012..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 copy number gain See cases [RCV000140619] Chr15:21581401..28332641 [GRCh38]
Chr15:22304596..28577787 [GRCh37]
Chr15:19805960..26251382 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3 copy number gain See cases [RCV000140622] Chr15:23328044..28154050 [GRCh38]
Chr15:23569415..28399196 [GRCh37]
Chr15:21120856..26072791 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28414765)x1 copy number loss See cases [RCV000141946] Chr15:23370621..28414765 [GRCh38]
Chr15:23615768..28659911 [GRCh37]
Chr15:21167209..26333506 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28414892)x1 copy number loss See cases [RCV000141728] Chr15:23370622..28414892 [GRCh38]
Chr15:23615769..28660038 [GRCh37]
Chr15:21167210..26333633 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1 copy number loss See cases [RCV000141730] Chr15:23328044..28836775 [GRCh38]
Chr15:22770421..29081921 [GRCh37]
Chr15:20321785..26880962 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)x1 copy number loss See cases [RCV000142069] Chr15:23328044..28315123 [GRCh38]
Chr15:22770421..28560269 [GRCh37]
Chr15:20321785..26233864 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)x1 copy number loss See cases [RCV000142233] Chr15:23328044..28315951 [GRCh38]
Chr15:23290786..28561097 [GRCh37]
Chr15:20842227..26234692 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28464569)x1 copy number loss See cases [RCV000142103] Chr15:23328044..28464569 [GRCh38]
Chr15:22770421..28709715 [GRCh37]
Chr15:20321785..26378746 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28578576)x1 copy number loss See cases [RCV000142234] Chr15:23370621..28578576 [GRCh38]
Chr15:23615768..28823722 [GRCh37]
Chr15:21167209..26622763 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300358)x1 copy number loss See cases [RCV000142170] Chr15:23375044..28300358 [GRCh38]
Chr15:23620191..28545504 [GRCh37]
Chr15:21171632..26219099 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300358)x1 copy number loss See cases [RCV000142132] Chr15:23328044..28300358 [GRCh38]
Chr15:23286571..28545504 [GRCh37]
Chr15:20838012..26219099 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1 copy number loss See cases [RCV000142046] Chr15:23328044..30077815 [GRCh38]
Chr15:23276605..30370018 [GRCh37]
Chr15:20828046..28157310 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28280314)x3 copy number gain See cases [RCV000142854] Chr15:23398620..28280314 [GRCh38]
Chr15:23643767..28525460 [GRCh37]
Chr15:21195208..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000142766] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28559402 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000142713] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29085896 [GRCh37]
Chr15:20316992..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000142795] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4 copy number gain See cases [RCV000142791] Chr15:23319714..30527306 [GRCh38]
Chr15:22765628..30819509 [GRCh37]
Chr15:20316992..28606801 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30094350)x4 copy number gain See cases [RCV000143379] Chr15:23328044..30094350 [GRCh38]
Chr15:22770421..30386553 [GRCh37]
Chr15:20321785..28173845 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28389912)x1 copy number loss See cases [RCV000143443] Chr15:23370622..28389912 [GRCh38]
Chr15:23615769..28635058 [GRCh37]
Chr15:21167210..26308653 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28446314)x1 copy number loss See cases [RCV000143183] Chr15:23422864..28446314 [GRCh38]
Chr15:23668011..28691460 [GRCh37]
Chr15:21219452..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28460005)x1 copy number loss See cases [RCV000143185] Chr15:23422864..28460005 [GRCh38]
Chr15:23668011..28801348 [GRCh37]
Chr15:21219452..26600389 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28683584)x4 copy number gain See cases [RCV000143291] Chr15:23328044..28683584 [GRCh38]
Chr15:22770421..28928730 [GRCh37]
Chr15:20321785..26727771 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1 copy number loss See cases [RCV000143226] Chr15:23328044..30023809 [GRCh38]
Chr15:22770422..30316012 [GRCh37]
Chr15:20321786..28103304 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 copy number loss See cases [RCV000143205] Chr15:25033869..37204304 [GRCh38]
Chr15:25279016..37496505 [GRCh37]
Chr15:22830109..35283797 [NCBI36]
Chr15:15q11.2-14
pathogenic
GRCh38/hg38 15q11.2-12(chr15:24051424-27222420)x1 copy number loss See cases [RCV000143716] Chr15:24051424..27222420 [GRCh38]
Chr15:24296571..27467567 [GRCh37]
Chr15:21847664..25050313 [NCBI36]
Chr15:15q11.2-12
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000148084] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28294829)x1 copy number loss See cases [RCV000143702] Chr15:23328044..28294829 [GRCh38]
Chr15:22770421..28539975 [GRCh37]
Chr15:20321785..26213570 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28300209)x1 copy number loss See cases [RCV000143744] Chr15:23370622..28300209 [GRCh38]
Chr15:23615769..28545355 [GRCh37]
Chr15:21167210..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000148060] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000148061] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 copy number gain See cases [RCV000148062] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23444168-28277347)x3 copy number gain See cases [RCV000143666] Chr15:23444168..28277347 [GRCh38]
Chr15:23689315..28522493 [GRCh37]
Chr15:21240408..26196088 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 copy number loss See cases [RCV000148063] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3 copy number gain See cases [RCV000143653] Chr15:23328044..32151843 [GRCh38]
Chr15:23282829..32444044 [GRCh37]
Chr15:20834270..30231336 [NCBI36]
Chr15:15q11.2-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28713633)x3 copy number gain See cases [RCV000143479] Chr15:23328044..28713633 [GRCh38]
Chr15:22770421..28958779 [GRCh37]
Chr15:20321785..26757820 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28478308)x1 copy number loss See cases [RCV000143483] Chr15:23328044..28478308 [GRCh38]
Chr15:22770421..28723454 [GRCh37]
Chr15:20321785..26378746 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000148195] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 copy number loss See cases [RCV000148164] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000148194] Chr15:23319714..28446314 [GRCh38]
Chr15:22698522..28691460 [GRCh37]
Chr15:20249886..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.546_547insCT (p.Glu183fs) insertion not provided [RCV000177395] Chr15:25371627..25371628 [GRCh38]
Chr15:25616774..25616775 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.63-14_63-7del deletion Angelman syndrome [RCV001507051]|not provided [RCV000175966] Chr15:25375770..25375777 [GRCh38]
Chr15:25620917..25620924 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2433_2434del (p.Arg811fs) microsatellite not provided [RCV000254960] Chr15:25340149..25340150 [GRCh38]
Chr15:25585296..25585297 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.659A>C (p.Asn220Thr) single nucleotide variant not specified [RCV000193288] Chr15:25371515 [GRCh38]
Chr15:25616662 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1032T>C (p.Ile344=) single nucleotide variant Angelman syndrome [RCV001496586]|Inborn genetic diseases [RCV002372090]|not provided [RCV000177397] Chr15:25371142 [GRCh38]
Chr15:25616289 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) single nucleotide variant Angelman syndrome [RCV001078933]|Inborn genetic diseases [RCV002372091]|not provided [RCV000724495] Chr15:25370836 [GRCh38]
Chr15:25615983 [GRCh37]
Chr15:15q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.2535_2538del (p.Leu845fs) deletion Angelman syndrome [RCV000196394] Chr15:25339218..25339221 [GRCh38]
Chr15:25584365..25584368 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.62+1_62+2insAA insertion Angelman syndrome [RCV000194951] Chr15:25405459..25405460 [GRCh38]
Chr15:25650606..25650607 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1185A>T (p.Glu395Asp) single nucleotide variant not specified [RCV000194607] Chr15:25370989 [GRCh38]
Chr15:25616136 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2397_2400dup (p.Leu801fs) duplication Angelman syndrome [RCV000193045] Chr15:25340182..25340183 [GRCh38]
Chr15:25585329..25585330 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs) duplication Angelman syndrome [RCV000193223] Chr15:25339188..25339189 [GRCh38]
Chr15:25584335..25584336 [GRCh37]
Chr15:15q11.2
pathogenic
NC_000015.9:g.(?_23730704)_(28530182_?)del deletion Angelman syndrome [RCV000191153] Chr15:23730704..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2238dup (p.Phe747fs) duplication Angelman syndrome [RCV000194009] Chr15:25354569..25354570 [GRCh38]
Chr15:25599716..25599717 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2523_2566dup (p.Lys856fs) duplication Angelman syndrome [RCV000194169] Chr15:25339189..25339190 [GRCh38]
Chr15:25584336..25584337 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2607dup (p.Gly870fs) duplication Angelman syndrome [RCV000194248] Chr15:25339148..25339149 [GRCh38]
Chr15:25584295..25584296 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) deletion Angelman syndrome [RCV000701063]|not provided [RCV000201266] Chr15:25339188..25339193 [GRCh38]
Chr15:25584335..25584340 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic|uncertain significance
NM_130839.5(UBE3A):c.1757T>G (p.Met586Arg) single nucleotide variant not specified [RCV000201268] Chr15:25356893 [GRCh38]
Chr15:25602040 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2504C>G (p.Pro835Arg) single nucleotide variant not specified [RCV000201273] Chr15:25339252 [GRCh38]
Chr15:25584399 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr) single nucleotide variant Angelman syndrome [RCV000417032]|not specified [RCV000201274] Chr15:25371167 [GRCh38]
Chr15:25616314 [GRCh37]
Chr15:15q11.2
likely pathogenic|uncertain significance
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) microsatellite Angelman syndrome [RCV000633514]|Epileptic encephalopathy [RCV001799632]|not provided [RCV000201275] Chr15:25370698..25370702 [GRCh38]
Chr15:25615845..25615849 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2562dup (p.Leu855fs) duplication Angelman syndrome [RCV000195178] Chr15:25339193..25339194 [GRCh38]
Chr15:25584340..25584341 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.900_912delinsC (p.Glu300_Pro304delinsAsp) indel not specified [RCV000192349] Chr15:25371262..25371274 [GRCh38]
Chr15:25616409..25616421 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3 copy number gain See cases [RCV000240207] Chr15:20848460..27662530 [GRCh37]
Chr15:15q11.2-12
pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4 copy number gain See cases [RCV000240220] Chr15:20190548..32917857 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
NM_130839.5(UBE3A):c.1953_1954del (p.His652fs) microsatellite not provided [RCV000255672] Chr15:25356696..25356697 [GRCh38]
Chr15:25601843..25601844 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2400A>T (p.Arg800Ser) single nucleotide variant not provided [RCV000519773] Chr15:25340183 [GRCh38]
Chr15:25585330 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130838.1(UBE3A):c.-44_*1888del deletion Angelman syndrome [RCV000229848] Chr15:25337249..25405506 [GRCh38]
Chr15:25582396..25650653 [GRCh37]
Chr15:15q11.2
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225455] Chr15:20044342..28924405 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225563] Chr15:25334522..28369712 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225599] Chr15:23624148..28790734 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.1521C>T (p.Leu507=) single nucleotide variant Angelman syndrome [RCV001500918]|not specified [RCV000433687] Chr15:25370653 [GRCh38]
Chr15:25615800 [GRCh37]
Chr15:15q11.2
likely benign
Single allele duplication Autism spectrum disorder [RCV000225663] Chr15:20306549..26208861 [GRCh37]
Chr15:15q11.1-12
pathogenic
NM_130839.5(UBE3A):c.767C>A (p.Ala256Glu) single nucleotide variant not provided [RCV000756863] Chr15:25371407 [GRCh38]
Chr15:25616554 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2406_2414del (p.Leu803_Phe805del) deletion Angelman syndrome [RCV000543322] Chr15:25340169..25340177 [GRCh38]
Chr15:25585316..25585324 [GRCh37]
Chr15:15q11.2
likely pathogenic|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3 copy number gain See cases [RCV000239962] Chr15:20733395..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x3 copy number gain See cases [RCV000511328] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2(chr15:25583931-25685400)x3 copy number gain See cases [RCV000239987] Chr15:25583931..25685400 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1196C>G (p.Pro399Arg) single nucleotide variant Angelman syndrome [RCV000532974] Chr15:25370978 [GRCh38]
Chr15:25616125 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.720C>A (p.Tyr240Ter) single nucleotide variant not provided [RCV000353013] Chr15:25371454 [GRCh38]
Chr15:25616601 [GRCh37]
Chr15:15q11.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406709)x1 copy number loss See cases [RCV000240259] Chr15:22815306..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4 copy number gain See cases [RCV000240538] Chr15:20190548..32386089 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
GRCh37/hg19 15q11.2(chr15:25655533-25691566)x1 copy number loss See cases [RCV000240385] Chr15:25655533..25691566 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.827del (p.Arg276fs) deletion not provided [RCV000255998] Chr15:25371347 [GRCh38]
Chr15:25616494 [GRCh37]
Chr15:15q11.2
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:25583931-32418279)x3 copy number gain See cases [RCV000240575] Chr15:25583931..32418279 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406709)x1 copy number loss See cases [RCV000240502] Chr15:22698522..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.1241_1247del (p.Arg414fs) microsatellite not provided [RCV000274964] Chr15:25370927..25370933 [GRCh38]
Chr15:25616074..25616080 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1237G>T (p.Glu413Ter) single nucleotide variant not provided [RCV000294573] Chr15:25370937 [GRCh38]
Chr15:25616084 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) single nucleotide variant Angelman syndrome [RCV002519088]|not provided [RCV000345041] Chr15:25360408 [GRCh38]
Chr15:25605555 [GRCh37]
Chr15:15q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.2469dup (p.Ile824fs) duplication not provided [RCV000350818] Chr15:25340113..25340114 [GRCh38]
Chr15:25585260..25585261 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.153_154dup (p.Ala52fs) microsatellite not provided [RCV000365094] Chr15:25375671..25375672 [GRCh38]
Chr15:25620818..25620819 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2571_2574del (p.Glu857fs) microsatellite not provided [RCV000371187] Chr15:25339182..25339185 [GRCh38]
Chr15:25584329..25584332 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1244_1253dup (p.Gly419fs) duplication Angelman syndrome [RCV000509135]|not provided [RCV000386255] Chr15:25370920..25370921 [GRCh38]
Chr15:25616067..25616068 [GRCh37]
Chr15:15q11.2
pathogenic|not provided
NM_130839.5(UBE3A):c.493C>T (p.Arg165Trp) single nucleotide variant not provided [RCV000489469] Chr15:25371681 [GRCh38]
Chr15:25616828 [GRCh37]
Chr15:15q11.2
likely pathogenic|uncertain significance
NM_130839.5(UBE3A):c.1052A>G (p.Asn351Ser) single nucleotide variant Angelman syndrome [RCV000546952]|not provided [RCV003392369] Chr15:25371122 [GRCh38]
Chr15:25616269 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1059T>G (p.Phe353Leu) single nucleotide variant not provided [RCV001760782] Chr15:25371115 [GRCh38]
Chr15:25616262 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2596del (p.Ala866fs) deletion not provided [RCV000487751] Chr15:25339160 [GRCh38]
Chr15:25584307 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.290C>T (p.Ser97Leu) single nucleotide variant Angelman syndrome [RCV002527579]|not provided [RCV000523816] Chr15:25375536 [GRCh38]
Chr15:25620683 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2049dup (p.Leu684fs) duplication not provided [RCV003224038] Chr15:25355966..25355967 [GRCh38]
Chr15:25601113..25601114 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1609-11T>C single nucleotide variant Angelman syndrome [RCV002060550]|not provided [RCV000578506] Chr15:25360538 [GRCh38]
Chr15:25605685 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.2508_2510dup (p.Ser837_His838insSer) duplication Angelman syndrome [RCV002280268] Chr15:25339245..25339246 [GRCh38]
Chr15:25584392..25584393 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.2419del (p.Thr807fs) deletion not provided [RCV003312296] Chr15:25340164 [GRCh38]
Chr15:25585311 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1609-8A>G single nucleotide variant Angelman syndrome [RCV001807382]|Inborn genetic diseases [RCV002402492]|not provided [RCV001092400] Chr15:25360535 [GRCh38]
Chr15:25605682 [GRCh37]
Chr15:15q11.2
pathogenic|uncertain significance
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) single nucleotide variant Angelman syndrome [RCV002062046]|Inborn genetic diseases [RCV002384298]|not provided [RCV000727010] Chr15:25371385 [GRCh38]
Chr15:25616532 [GRCh37]
Chr15:15q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.2134A>C (p.Asn712His) single nucleotide variant not provided [RCV000592140] Chr15:25354674 [GRCh38]
Chr15:25599821 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg) single nucleotide variant Angelman syndrome [RCV000705836]|Inborn genetic diseases [RCV000623096]|not provided [RCV000658168] Chr15:25356705 [GRCh38]
Chr15:25601852 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.507A>G (p.Gln169=) single nucleotide variant Angelman syndrome [RCV001481044]|not specified [RCV000606645] Chr15:25371667 [GRCh38]
Chr15:25616814 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.367A>G (p.Thr123Ala) single nucleotide variant Angelman syndrome [RCV002497270]|not provided [RCV000593852] Chr15:25371807 [GRCh38]
Chr15:25616954 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) copy number gain Autism [RCV000626505] Chr15:23810397..29213787 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.*4A>G single nucleotide variant Angelman syndrome [RCV003235377]|not provided [RCV000733008] Chr15:25339133 [GRCh38]
Chr15:25584280 [GRCh37]
Chr15:15q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.2504_2516dup (p.Cys840fs) duplication Intellectual disability [RCV000414808] Chr15:25339239..25339240 [GRCh38]
Chr15:25584386..25584387 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=) microsatellite not provided [RCV000733227] Chr15:25339120..25339129 [GRCh38]
Chr15:25584267..25584276 [GRCh37]
Chr15:15q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.2272G>A (p.Gly758Arg) single nucleotide variant Global developmental delay [RCV000415459] Chr15:25354536 [GRCh38]
Chr15:25599683 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2553_2569del (p.Ser851fs) deletion Angelman syndrome [RCV000416334] Chr15:25339187..25339203 [GRCh38]
Chr15:25584334..25584350 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.457G>A (p.Val153Ile) single nucleotide variant Angelman syndrome [RCV001240887]|not specified [RCV000413266] Chr15:25371717 [GRCh38]
Chr15:25616864 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1480A>G (p.Asn494Asp) single nucleotide variant not provided [RCV000413886] Chr15:25370694 [GRCh38]
Chr15:25615841 [GRCh37]
Chr15:15q11.2
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28644578)x3 copy number gain See cases [RCV000449082] Chr15:22770421..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x3 copy number gain See cases [RCV000449451] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545355)x1 copy number loss See cases [RCV000449342] Chr15:23620191..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2(chr15:25683179-25684070)x3 copy number gain See cases [RCV000449346] Chr15:25683179..25684070 [GRCh37]
Chr15:15q11.2
benign
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28823722)x1 copy number loss See cases [RCV000449387] Chr15:23615768..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4 copy number gain See cases [RCV000454142] Chr15:20071673..30737344 [GRCh37]
Chr15:15q11.1-13.2
pathogenic
GRCh37/hg19 15q11.2-14(chr15:24179003-37238599)x1 copy number loss See cases [RCV000449139] Chr15:24179003..37238599 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28357230)x1 copy number loss See cases [RCV000449305] Chr15:23620191..28357230 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x1 copy number loss See cases [RCV000449486] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23300138-29338429)x3 copy number gain See cases [RCV000449160] Chr15:23300138..29338429 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28928730)x1 copy number loss See cases [RCV000446327] Chr15:22770421..28928730 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x3 copy number gain See cases [RCV000447681] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28823722)x1 copy number loss See cases [RCV000447304] Chr15:23290862..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545355)x1 copy number loss See cases [RCV000447305] Chr15:22770421..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28561097)x3 copy number gain See cases [RCV000446375] Chr15:23290862..28561097 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28958779)x4 copy number gain See cases [RCV000447111] Chr15:22770421..28958779 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28545355)x1 copy number loss See cases [RCV000446271] Chr15:23615768..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28545355)x1 copy number loss See cases [RCV000447349] Chr15:23286571..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29021034)x1 copy number loss See cases [RCV000447354] Chr15:22770421..29021034 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1 copy number loss See cases [RCV000446646] Chr15:22770421..28828168 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x4 copy number gain See cases [RCV000447598] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23487423-28406650)x3 copy number gain See cases [RCV000446525] Chr15:23487423..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x3 copy number gain See cases [RCV000447049] Chr15:23707452..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x3 copy number gain See cases [RCV000446464] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss See cases [RCV000446703] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650) copy number gain See cases [RCV000447173] Chr15:20190548..28406650 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28704050)x1 copy number loss See cases [RCV000447451] Chr15:22770421..28704050 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28527734)x1 copy number loss See cases [RCV000446656] Chr15:23620191..28527734 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561232)x1 copy number loss See cases [RCV000447084] Chr15:23620191..28561232 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.654C>T (p.Asp218=) single nucleotide variant Angelman syndrome [RCV002522474]|not provided [RCV001721367] Chr15:25371520 [GRCh38]
Chr15:25616667 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.926C>G (p.Ala309Gly) single nucleotide variant not provided [RCV000437771] Chr15:25371248 [GRCh38]
Chr15:25616395 [GRCh37]
Chr15:15q11.2
likely pathogenic|uncertain significance
NM_130839.5(UBE3A):c.2281-20A>G single nucleotide variant Angelman syndrome [RCV001861564]|not specified [RCV000441494] Chr15:25354446 [GRCh38]
Chr15:25599593 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.2281-15T>C single nucleotide variant Angelman syndrome [RCV002524817]|not specified [RCV000421087] Chr15:25354441 [GRCh38]
Chr15:25599588 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.361+18C>G single nucleotide variant not specified [RCV000434662] Chr15:25375447 [GRCh38]
Chr15:25620594 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1824G>A (p.Gln608=) single nucleotide variant Angelman syndrome [RCV002522546]|not specified [RCV000441849] Chr15:25356826 [GRCh38]
Chr15:25601973 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2-13.3(chr15:22770421-31760986)x1 copy number loss See cases [RCV000445857] Chr15:22770421..31760986 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_130839.5(UBE3A):c.2592G>A (p.Thr864=) single nucleotide variant Angelman syndrome [RCV001400538]|not specified [RCV000421112] Chr15:25339164 [GRCh38]
Chr15:25584311 [GRCh37]
Chr15:15q11.2
benign|likely benign
NM_130839.5(UBE3A):c.939A>G (p.Leu313=) single nucleotide variant Angelman syndrome [RCV002521812]|not specified [RCV000435239] Chr15:25371235 [GRCh38]
Chr15:25616382 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=) single nucleotide variant Angelman syndrome [RCV001482967]|not specified [RCV000418616] Chr15:25370902 [GRCh38]
Chr15:25616049 [GRCh37]
Chr15:15q11.2
likely benign|conflicting interpretations of pathogenicity
NM_130839.5(UBE3A):c.696T>C (p.Asp232=) single nucleotide variant Angelman syndrome [RCV002063451]|not specified [RCV000435453] Chr15:25371478 [GRCh38]
Chr15:25616625 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2402T>A (p.Leu801His) single nucleotide variant Angelman syndrome [RCV001861497]|not provided [RCV000439201] Chr15:25340181 [GRCh38]
Chr15:25585328 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_130839.5(UBE3A):c.2280+17C>T single nucleotide variant Angelman syndrome [RCV002061663]|not specified [RCV000429086] Chr15:25354511 [GRCh38]
Chr15:25599658 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.-165+15G>C single nucleotide variant not specified [RCV000429598] Chr15:25438474 [GRCh38]
Chr15:25683621 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x3 copy number gain See cases [RCV000445780] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.-165+15G>A single nucleotide variant not specified [RCV000422696] Chr15:25438474 [GRCh38]
Chr15:25683621 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2124+8A>G single nucleotide variant Angelman syndrome [RCV001492847]|not specified [RCV000443958] Chr15:25355884 [GRCh38]
Chr15:25601031 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.141G>A (p.Thr47=) single nucleotide variant Angelman syndrome [RCV001448686]|not specified [RCV000430049] Chr15:25375685 [GRCh38]
Chr15:25620832 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2-13.3(chr15:23282829-32446830)x1 copy number loss See cases [RCV000445807] Chr15:23282829..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_130839.5(UBE3A):c.2370C>T (p.Ile790=) single nucleotide variant Angelman syndrome [RCV002522500]|Inborn genetic diseases [RCV002318482]|not specified [RCV000423060] Chr15:25340213 [GRCh38]
Chr15:25585360 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.744A>G (p.Lys248=) single nucleotide variant not provided [RCV001712283] Chr15:25371430 [GRCh38]
Chr15:25616577 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3 copy number gain See cases [RCV000445711] Chr15:20733395..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.1038T>C (p.Tyr346=) single nucleotide variant Angelman syndrome [RCV001468086]|not specified [RCV000437460] Chr15:25371136 [GRCh38]
Chr15:25616283 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) single nucleotide variant Angelman syndrome [RCV000983370]|not specified [RCV000437526] Chr15:25360516 [GRCh38]
Chr15:25605663 [GRCh37]
Chr15:15q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073669)x4 copy number gain See cases [RCV000448114] Chr15:22770421..31073669 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2(chr15:25582762-25584107)x3 copy number gain See cases [RCV000448900] Chr15:25582762..25584107 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534458)x1 copy number loss See cases [RCV000448156] Chr15:22770421..28534458 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406650)x1 copy number loss See cases [RCV000448168] Chr15:22815306..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x3 copy number gain See cases [RCV000448177] Chr15:23288374..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-33707835)x3 copy number gain See cases [RCV000447775] Chr15:22770421..33707835 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28709715)x1 copy number loss See cases [RCV000448196] Chr15:22770421..28709715 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2(chr15:25585059-25585246)x3 copy number gain See cases [RCV000447801] Chr15:25585059..25585246 [GRCh37]
Chr15:15q11.2
benign
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x1 copy number loss See cases [RCV000447934] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28534245)x3 copy number gain See cases [RCV000448566] Chr15:23290862..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)x1 copy number loss See cases [RCV000448654] Chr15:23620191..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x4 copy number gain See cases [RCV000448060] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 copy number gain See cases [RCV000448210] Chr15:20190548..32917801 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545459)x1 copy number loss See cases [RCV000448755] Chr15:23290786..28545459 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1 copy number loss See cases [RCV000448076] Chr15:22698522..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28419123)x1 copy number loss See cases [RCV000448602] Chr15:22770421..28419123 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28437018)x1 copy number loss See cases [RCV000448456] Chr15:23620191..28437018 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x1 copy number loss See cases [RCV000448093] Chr15:23707452..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain See cases [RCV000448096] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000448389] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_130839.5(UBE3A):c.2535_2551del (p.Leu846fs) deletion Angelman syndrome [RCV000470807] Chr15:25339205..25339221 [GRCh38]
Chr15:25584352..25584368 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1138G>A (p.Val380Ile) single nucleotide variant Inborn genetic diseases [RCV002318584]|not provided [RCV000484075] Chr15:25371036 [GRCh38]
Chr15:25616183 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1708_1710del (p.Glu570del) deletion not provided [RCV000483009] Chr15:25360426..25360428 [GRCh38]
Chr15:25605573..25605575 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His) single nucleotide variant Angelman syndrome [RCV000989273]|Inborn genetic diseases [RCV001266187]|not provided [RCV000483765] Chr15:25370597 [GRCh38]
Chr15:25615744 [GRCh37]
Chr15:15q11.2
likely pathogenic|conflicting interpretations of pathogenicity
NM_130839.5(UBE3A):c.1541dup (p.Gln515fs) duplication not provided [RCV000484005] Chr15:25370632..25370633 [GRCh38]
Chr15:25615779..25615780 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) single nucleotide variant Angelman syndrome [RCV001851141]|Inborn genetic diseases [RCV000623288]|not provided [RCV000761899] Chr15:25340164 [GRCh38]
Chr15:25585311 [GRCh37]
Chr15:15q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.1179T>A (p.Asp393Glu) single nucleotide variant Angelman syndrome [RCV002526948]|not provided [RCV000486084] Chr15:25370995 [GRCh38]
Chr15:25616142 [GRCh37]
Chr15:15q11.2
uncertain significance
NC_000015.9:g.(?_25582396)_(25650653_?)dup duplication Angelman syndrome [RCV000469021] Chr15:25337249..25405506 [GRCh38]
Chr15:25582396..25650653 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) single nucleotide variant Angelman syndrome [RCV000690582]|not provided [RCV000478539] Chr15:25370598 [GRCh38]
Chr15:25615745 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic
NM_130839.5(UBE3A):c.2125-1G>A single nucleotide variant Angelman syndrome [RCV001507065]|not provided [RCV000486030] Chr15:25354684 [GRCh38]
Chr15:25599831 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.859G>A (p.Val287Ile) single nucleotide variant Angelman syndrome [RCV000695593]|not provided [RCV000486907] Chr15:25371315 [GRCh38]
Chr15:25616462 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1609-20dup duplication not specified [RCV000487000] Chr15:25360544..25360545 [GRCh38]
Chr15:25605691..25605692 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2519G>C (p.Cys840Ser) single nucleotide variant not provided [RCV000479347] Chr15:25339237 [GRCh38]
Chr15:25584384 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.732C>T (p.Leu244=) single nucleotide variant Angelman syndrome [RCV001499203] Chr15:25371442 [GRCh38]
Chr15:25616589 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28540415)x1 copy number loss See cases [RCV000510622] Chr15:23615768..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28526410)x3 copy number gain See cases [RCV000510367] Chr15:22770421..28526410 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
NM_130839.5(UBE3A):c.1169A>G (p.Asn390Ser) single nucleotide variant Angelman syndrome [RCV001231001]|See cases [RCV002252144]|not specified [RCV000503287] Chr15:25371005 [GRCh38]
Chr15:25616152 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4 copy number gain See cases [RCV000510386] Chr15:22770421..31122895 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_130839.5(UBE3A):c.936G>A (p.Lys312=) single nucleotide variant Angelman syndrome [RCV001507049]|not specified [RCV000503502] Chr15:25371238 [GRCh38]
Chr15:25616385 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000510251] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28415107)x1 copy number loss See cases [RCV000510397] Chr15:22770421..28415107 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.1754-4A>G single nucleotide variant Angelman syndrome [RCV001205261]|not provided [RCV001662501]|not specified [RCV000503675] Chr15:25356900 [GRCh38]
Chr15:25602047 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) single nucleotide variant Angelman syndrome [RCV002056886]|not provided [RCV000729891]|not specified [RCV000501444] Chr15:25356051 [GRCh38]
Chr15:25601198 [GRCh37]
Chr15:15q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23625784-28540345)x1 copy number loss See cases [RCV000510211] Chr15:23625784..28540345 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter) single nucleotide variant Angelman syndrome [RCV002248757]|not provided [RCV000523070] Chr15:25375759 [GRCh38]
Chr15:25620906 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1937G>C (p.Arg646Pro) single nucleotide variant not specified [RCV000501878] Chr15:25356713 [GRCh38]
Chr15:25601860 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561671)x1 copy number loss See cases [RCV000510689] Chr15:23615769..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3 copy number gain See cases [RCV000510224] Chr15:22770421..29214721 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561097)x3 copy number gain See cases [RCV000510296] Chr15:23615769..28561097 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 copy number loss See cases [RCV000510693] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.1599A>G (p.Ala533=) single nucleotide variant Angelman syndrome [RCV002060153]|not specified [RCV000499955] Chr15:25370575 [GRCh38]
Chr15:25615722 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.744A>T (p.Lys248Asn) single nucleotide variant not provided [RCV000497948] Chr15:25371430 [GRCh38]
Chr15:25616577 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.46A>G (p.Ile16Val) single nucleotide variant not provided [RCV000498069] Chr15:25405477 [GRCh38]
Chr15:25650624 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1009A>T (p.Met337Leu) single nucleotide variant Angelman syndrome [RCV000765202]|not specified [RCV000500376] Chr15:25371165 [GRCh38]
Chr15:25616312 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1471T>G (p.Tyr491Asp) single nucleotide variant not provided [RCV000498471] Chr15:25370703 [GRCh38]
Chr15:25615850 [GRCh37]
Chr15:15q11.2
likely pathogenic|uncertain significance
NM_130839.5(UBE3A):c.517del (p.Glu173fs) deletion not provided [RCV000493743] Chr15:25371657 [GRCh38]
Chr15:25616804 [GRCh37]
Chr15:15q11.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x1 copy number loss See cases [RCV000511670] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545601)x1 copy number loss See cases [RCV000511767] Chr15:23290786..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28534245)x3 copy number gain See cases [RCV000511592] Chr15:23615768..28534245 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534359)x1 copy number loss See cases [RCV000511600] Chr15:23620191..28534359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28953483)x3 copy number gain See cases [RCV000511850] Chr15:23615769..28953483 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x1 copy number loss See cases [RCV000511196] Chr15:23620191..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28539975)x1 copy number loss See cases [RCV000510883] Chr15:23620191..28539975 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561671)x1 copy number loss See cases [RCV000510894] Chr15:23620191..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28958779)x3 copy number gain See cases [RCV000510929] Chr15:23620191..28958779 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30369944)x4 copy number gain See cases [RCV000510901] Chr15:22770421..30369944 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534245)x3 copy number gain See cases [RCV000510737] Chr15:23620191..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561671)x1 copy number loss See cases [RCV000511178] Chr15:22770421..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28958779)x3 copy number gain See cases [RCV000511275] Chr15:23290862..28958779 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
NM_130839.5(UBE3A):c.1753+20del deletion not specified [RCV000603234] Chr15:25360363 [GRCh38]
Chr15:25605510 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter) single nucleotide variant Angelman syndrome [RCV001044278]|not provided [RCV000514203] Chr15:25370670 [GRCh38]
Chr15:25615817 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) single nucleotide variant Angelman syndrome [RCV000768361]|not provided [RCV000714145] Chr15:25371592 [GRCh38]
Chr15:25616739 [GRCh37]
Chr15:15q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130839.5(UBE3A):c.1782del (p.Lys594fs) deletion Angelman syndrome [RCV002280132]|Inborn genetic diseases [RCV000622728] Chr15:25356868 [GRCh38]
Chr15:25602015 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic
NM_130839.5(UBE3A):c.1230G>C (p.Leu410Phe) single nucleotide variant Inborn genetic diseases [RCV000622795] Chr15:25370944 [GRCh38]
Chr15:25616091 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1335G>A (p.Glu445=) single nucleotide variant not specified [RCV000601938] Chr15:25370839 [GRCh38]
Chr15:25615986 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2354+10T>C single nucleotide variant Angelman syndrome [RCV000633508] Chr15:25354343 [GRCh38]
Chr15:25599490 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.570G>T (p.Lys190Asn) single nucleotide variant Angelman syndrome [RCV000633515]|not provided [RCV001572481] Chr15:25371604 [GRCh38]
Chr15:25616751 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2162A>T (p.Lys721Ile) single nucleotide variant Angelman syndrome [RCV000633516] Chr15:25354646 [GRCh38]
Chr15:25599793 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1876C>T (p.Leu626=) single nucleotide variant Angelman syndrome [RCV000633518] Chr15:25356774 [GRCh38]
Chr15:25601921 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2567_2570dup (p.Leu859fs) duplication not provided [RCV000627512] Chr15:25339185..25339186 [GRCh38]
Chr15:25584332..25584333 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1608+1G>A single nucleotide variant not provided [RCV000523350] Chr15:25370565 [GRCh38]
Chr15:25615712 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.278A>C (p.Tyr93Ser) single nucleotide variant Angelman syndrome [RCV003139950]|Inborn genetic diseases [RCV000624060] Chr15:25375548 [GRCh38]
Chr15:25620695 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.21A>G (p.Arg7=) single nucleotide variant not specified [RCV000615890] Chr15:25405502 [GRCh38]
Chr15:25650649 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1754-2A>C single nucleotide variant not provided [RCV000579260] Chr15:25356898 [GRCh38]
Chr15:25602045 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1228T>C (p.Leu410=) single nucleotide variant Angelman syndrome [RCV001505113]|not provided [RCV001698444] Chr15:25370946 [GRCh38]
Chr15:25616093 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2403CTT[1] (p.Phe802del) microsatellite Inborn genetic diseases [RCV000623404] Chr15:25340175..25340177 [GRCh38]
Chr15:25585322..25585324 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.151_153del (p.Cys51del) deletion Inborn genetic diseases [RCV000623505] Chr15:25375673..25375675 [GRCh38]
Chr15:25620820..25620822 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.342C>A (p.Gly114=) single nucleotide variant Angelman syndrome [RCV001486202]|Inborn genetic diseases [RCV002438576]|not specified [RCV000611486] Chr15:25375484 [GRCh38]
Chr15:25620631 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1959+11T>A single nucleotide variant Angelman syndrome [RCV002065432]|not specified [RCV000609052] Chr15:25356680 [GRCh38]
Chr15:25601827 [GRCh37]
Chr15:15q11.2
benign|likely benign
NM_130839.5(UBE3A):c.2281-12T>C single nucleotide variant not specified [RCV000611902] Chr15:25354438 [GRCh38]
Chr15:25599585 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2499-5_2499-2del deletion not specified [RCV000609334] Chr15:25339259..25339262 [GRCh38]
Chr15:25584406..25584409 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28163991)x1 copy number loss See cases [RCV000512394] Chr15:23615769..28163991 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561670)x4 copy number gain See cases [RCV000512182] Chr15:22770421..28561670 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28709715)x1 copy number loss See cases [RCV000512355] Chr15:23620191..28709715 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2355-6_2355-5insTAAT insertion Angelman syndrome [RCV000633517] Chr15:25340233..25340234 [GRCh38]
Chr15:25585380..25585381 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28540415)x1 copy number loss See cases [RCV000512547] Chr15:23286571..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29009042)x3 copy number gain See cases [RCV000512432] Chr15:22770421..29009042 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser) single nucleotide variant Angelman syndrome [RCV000690468]|not provided [RCV000597449] Chr15:25354673 [GRCh38]
Chr15:25599820 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2226C>G (p.Pro742=) single nucleotide variant not specified [RCV000600897] Chr15:25354582 [GRCh38]
Chr15:25599729 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.130G>A (p.Glu44Lys) single nucleotide variant Inborn genetic diseases [RCV000623357]|not provided [RCV002469221] Chr15:25375696 [GRCh38]
Chr15:25620843 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter) single nucleotide variant Angelman syndrome [RCV001507035]|not provided [RCV000658116] Chr15:25370967 [GRCh38]
Chr15:25616114 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2503C>T (p.Pro835Ser) single nucleotide variant not provided [RCV000658324] Chr15:25339253 [GRCh38]
Chr15:25584400 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.512C>G (p.Thr171Ser) single nucleotide variant Angelman syndrome [RCV001861691]|not provided [RCV000658166] Chr15:25371662 [GRCh38]
Chr15:25616809 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.222G>A (p.Lys74=) single nucleotide variant Angelman syndrome [RCV002067017]|Inborn genetic diseases [RCV002316060] Chr15:25375604 [GRCh38]
Chr15:25620751 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2322C>T (p.Asp774=) single nucleotide variant Angelman syndrome [RCV000874433]|Inborn genetic diseases [RCV002314508]|not provided [RCV001619827] Chr15:25354385 [GRCh38]
Chr15:25599532 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1696G>A (p.Gly566Ser) single nucleotide variant Angelman syndrome [RCV000677659] Chr15:25360440 [GRCh38]
Chr15:25605587 [GRCh37]
Chr15:15q11.2
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain not provided [RCV000683631] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4 copy number gain not provided [RCV000683630] Chr15:22770421..28376934 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4 copy number gain not provided [RCV000683632] Chr15:22770421..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1 copy number loss not provided [RCV000683634] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4 copy number gain not provided [RCV000683636] Chr15:22770421..31073668 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3 copy number gain not provided [RCV000683649] Chr15:23632677..28723454 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1 copy number loss not provided [RCV000683635] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3 copy number gain not provided [RCV000683645] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28705281)x1 copy number loss not provided [RCV000683642] Chr15:23288374..28705281 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss not provided [RCV000683633] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4 copy number gain not provided [RCV000683639] Chr15:22770421..33098520 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28823722)x1 copy number loss not provided [RCV000683641] Chr15:23286571..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x1 copy number loss not provided [RCV000683646] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4 copy number gain not provided [RCV000683638] Chr15:22770421..32439524 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-12(chr15:23662481-25991024)x1 copy number loss not provided [RCV000683651] Chr15:23662481..25991024 [GRCh37]
Chr15:15q11.2-12
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3 copy number gain not provided [RCV000683637] Chr15:22770421..32421780 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1 copy number loss not provided [RCV000683640] Chr15:22876919..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3 copy number gain not provided [RCV000683647] Chr15:23620191..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1 copy number loss not provided [RCV000683650] Chr15:23637603..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1 copy number loss not provided [RCV000683643] Chr15:23288374..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28560269)x1 copy number loss not provided [RCV000683644] Chr15:23290786..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28534458)x3 copy number gain not provided [RCV000683648] Chr15:23632677..28534458 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.489C>G (p.Ser163Arg) single nucleotide variant not specified [RCV000678761] Chr15:25371685 [GRCh38]
Chr15:25616832 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2030T>C (p.Phe677Ser) single nucleotide variant Angelman syndrome [RCV000700045] Chr15:25355986 [GRCh38]
Chr15:25601133 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1133C>G (p.Ala378Gly) single nucleotide variant Angelman syndrome [RCV000690074]|not provided [RCV001550951] Chr15:25371041 [GRCh38]
Chr15:25616188 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1153G>A (p.Val385Met) single nucleotide variant Angelman syndrome [RCV000692925] Chr15:25371021 [GRCh38]
Chr15:25616168 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2323G>A (p.Gly775Ser) single nucleotide variant Angelman syndrome [RCV000695140]|not provided [RCV003228980] Chr15:25354384 [GRCh38]
Chr15:25599531 [GRCh37]
Chr15:15q11.2
uncertain significance
NC_000015.10:g.(?_25360363)_(25360547_?)del deletion Angelman syndrome [RCV000707742] Chr15:25360363..25360547 [GRCh38]
Chr15:25605510..25605694 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2430C>T (p.Asp810=) single nucleotide variant Angelman syndrome [RCV002534544]|Inborn genetic diseases [RCV002316181] Chr15:25340153 [GRCh38]
Chr15:25585300 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.647A>C (p.Gln216Pro) single nucleotide variant Angelman syndrome [RCV000691831]|not provided [RCV002285398] Chr15:25371527 [GRCh38]
Chr15:25616674 [GRCh37]
Chr15:15q11.2
uncertain significance
NC_000015.10:g.(?_25375445)_(25375783_?)del deletion Angelman syndrome [RCV000708279] Chr15:25375445..25375783 [GRCh38]
Chr15:25620592..25620930 [GRCh37]
Chr15:15q11.2
pathogenic
NC_000015.10:g.(?_24566038)_(25781223_?)del deletion Angelman syndrome [RCV000708384] Chr15:24566038..25781223 [GRCh38]
Chr15:24811185..26026370 [GRCh37]
Chr15:15q11.2-12
pathogenic
NM_130839.5(UBE3A):c.1678_1699delinsT (p.Gln560_Val567delinsPhe) indel Angelman syndrome [RCV000692367] Chr15:25360437..25360458 [GRCh38]
Chr15:25605584..25605605 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2604A>T (p.Gly868=) single nucleotide variant Angelman syndrome [RCV000695337] Chr15:25339152 [GRCh38]
Chr15:25584299 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.342C>T (p.Gly114=) single nucleotide variant Angelman syndrome [RCV000704882]|not provided [RCV001672926] Chr15:25375484 [GRCh38]
Chr15:25620631 [GRCh37]
Chr15:15q11.2
benign|likely benign|uncertain significance
NC_000015.9:g.(?_25584264)_(25620930_?)dup duplication Angelman syndrome [RCV000707752] Chr15:25339117..25375783 [GRCh38]
Chr15:25584264..25620930 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1600del (p.Val535fs) deletion Angelman syndrome [RCV000688988] Chr15:25370574 [GRCh38]
Chr15:25615721 [GRCh37]
Chr15:15q11.2
pathogenic
NC_000015.10:g.(?_25354333)_(25360547_?)del deletion Angelman syndrome [RCV000708116] Chr15:25354333..25360547 [GRCh38]
Chr15:25599480..25605694 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.854T>C (p.Ile285Thr) single nucleotide variant Angelman syndrome [RCV000699666] Chr15:25371320 [GRCh38]
Chr15:25616467 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.733T>G (p.Ser245Ala) single nucleotide variant Angelman syndrome [RCV000692007] Chr15:25371441 [GRCh38]
Chr15:25616588 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1224A>C (p.Glu408Asp) single nucleotide variant Inborn genetic diseases [RCV002315318] Chr15:25370950 [GRCh38]
Chr15:25616097 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.2461_2470del (p.Leu820_Lys821insTer) deletion Inborn genetic diseases [RCV002318833] Chr15:25340113..25340122 [GRCh38]
Chr15:25585260..25585269 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1456A>G (p.Lys486Glu) single nucleotide variant Inborn genetic diseases [RCV002316869] Chr15:25370718 [GRCh38]
Chr15:25615865 [GRCh37]
Chr15:15q11.2
likely pathogenic|uncertain significance
NM_130839.5(UBE3A):c.1271C>G (p.Pro424Arg) single nucleotide variant Inborn genetic diseases [RCV002318318] Chr15:25370903 [GRCh38]
Chr15:25616050 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2598C>T (p.Ala866=) single nucleotide variant Inborn genetic diseases [RCV002317491] Chr15:25339158 [GRCh38]
Chr15:25584305 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.406T>C (p.Leu136=) single nucleotide variant Angelman syndrome [RCV001401507]|Inborn genetic diseases [RCV002317543] Chr15:25371768 [GRCh38]
Chr15:25616915 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.*3_*17del (p.Ter873=) deletion not provided [RCV001566731] Chr15:25339120..25339134 [GRCh38]
Chr15:25584267..25584281 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.-164-178_-164-177dup duplication not provided [RCV001567357] Chr15:25412147..25412148 [GRCh38]
Chr15:25657294..25657295 [GRCh37]
Chr15:15q11.2
likely benign
Single allele duplication Schizophrenia [RCV000754155] Chr15:23157975..28774125 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1 copy number loss not provided [RCV000738652] Chr15:22652330..29050198 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28532120)x1 copy number loss not provided [RCV000738660] Chr15:23672782..28532120 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication Schizophrenia [RCV000754156] Chr15:23319712..28684313 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28544359)x1 copy number loss not provided [RCV000738661] Chr15:23672782..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23693406-29085893)x3 copy number gain not provided [RCV000738662] Chr15:23693406..29085893 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2(chr15:25595858-25621570)x3 copy number gain not provided [RCV000738690] Chr15:25595858..25621570 [GRCh37]
Chr15:15q11.2
benign
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3
pathogenic
Single allele duplication Autism [RCV000754157] Chr15:23319712..28800324 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 copy number gain not provided [RCV000754760] Chr15:20102541..28535051 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22750305-28535266)x1 copy number loss not provided [RCV000751176] Chr15:22750305..28535266 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22835967-30371774)x4 copy number gain not provided [RCV000751178] Chr15:22835967..30371774 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23109890-29085893)x3 copy number gain not provided [RCV000751181] Chr15:23109890..29085893 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28506450)x3 copy number gain not provided [RCV000751185] Chr15:23656946..28506450 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28535266)x3 copy number gain not provided [RCV000751186] Chr15:23656946..28535266 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x3 copy number gain not provided [RCV000751187] Chr15:23656946..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x1 copy number loss not provided [RCV000751188] Chr15:23656946..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2(chr15:25600636-25621482)x3 copy number gain not provided [RCV000751206] Chr15:25600636..25621482 [GRCh37]
Chr15:15q11.2
benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_130839.5(UBE3A):c.2125-259_2125-257del microsatellite not provided [RCV001541342] Chr15:25354940..25354942 [GRCh38]
Chr15:25600087..25600089 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.-165+10455T>C single nucleotide variant not provided [RCV001708954] Chr15:25428034 [GRCh38]
Chr15:25673181 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.21-55dup duplication not provided [RCV001534213] Chr15:25405548..25405549 [GRCh38]
Chr15:25650695..25650696 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.-165+5805C>T single nucleotide variant not provided [RCV001645480] Chr15:25432684 [GRCh38]
Chr15:25677831 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.2547C>G (p.Tyr849Ter) single nucleotide variant Angelman syndrome [RCV001706787] Chr15:25339209 [GRCh38]
Chr15:25584356 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter) single nucleotide variant Angelman syndrome [RCV001507036]|not provided [RCV000760659] Chr15:25371548 [GRCh38]
Chr15:25616695 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.20+447A>G single nucleotide variant not provided [RCV001573760] Chr15:25408641 [GRCh38]
Chr15:25653788 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.368C>G (p.Thr123Ser) single nucleotide variant Angelman syndrome [RCV001067071] Chr15:25371806 [GRCh38]
Chr15:25616953 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.870T>C (p.Asn290=) single nucleotide variant not provided [RCV001608830] Chr15:25371304 [GRCh38]
Chr15:25616451 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.400C>T (p.Leu134Phe) single nucleotide variant Angelman syndrome [RCV003120626]|not provided [RCV001548031] Chr15:25371774 [GRCh38]
Chr15:25616921 [GRCh37]
Chr15:15q11.2
uncertain significance
NC_000015.10:g.(?_25339137)_(25405462_?)dup duplication Angelman syndrome [RCV001031715] Chr15:25584284..25650609 [GRCh37]
Chr15:15q11.2
pathogenic|likely pathogenic
NM_130839.5(UBE3A):c.2065A>G (p.Met689Val) single nucleotide variant not provided [RCV001575271] Chr15:25355951 [GRCh38]
Chr15:25601098 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.305A>G (p.Asn102Ser) single nucleotide variant Angelman syndrome [RCV002568446]|not provided [RCV001568101] Chr15:25375521 [GRCh38]
Chr15:25620668 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1836T>C (p.Ile612=) single nucleotide variant not provided [RCV000925955] Chr15:25356814 [GRCh38]
Chr15:25601961 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.558T>C (p.Asp186=) single nucleotide variant Angelman syndrome [RCV000944447] Chr15:25371616 [GRCh38]
Chr15:25616763 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1854G>C (p.Leu618=) single nucleotide variant Angelman syndrome [RCV000867264]|not provided [RCV001172082] Chr15:25356796 [GRCh38]
Chr15:25601943 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1273C>T (p.Leu425=) single nucleotide variant Angelman syndrome [RCV000927350] Chr15:25370901 [GRCh38]
Chr15:25616048 [GRCh37]
Chr15:15q11.2
likely benign
NM_130838.4(UBE3A):c.1831C>T (p.Pro611Ser) single nucleotide variant Esophageal atresia [RCV000984769] Chr15:25356759 [GRCh38]
Chr15:25601906 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number loss Angelman syndrome [RCV000767840] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number gain 15q11q13 microduplication syndrome [RCV000767841] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4 copy number gain not provided [RCV001006663] Chr15:22770421..32915089 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 copy number loss not provided [RCV001006664] Chr15:22770421..36861479 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-12(chr15:23288374-27706996)x1 copy number loss not provided [RCV001006666] Chr15:23288374..27706996 [GRCh37]
Chr15:15q11.2-12
pathogenic
NM_130839.5(UBE3A):c.927G>A (p.Ala309=) single nucleotide variant Angelman syndrome [RCV001422841]|Inborn genetic diseases [RCV002372716]|not provided [RCV000995273] Chr15:25371247 [GRCh38]
Chr15:25616394 [GRCh37]
Chr15:15q11.2
benign|likely benign
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) copy number gain 15q11q13 microduplication syndrome [RCV000767717] Chr15:20190548..30300265 [GRCh37]
Chr15:15q11.1-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) copy number loss Angelman syndrome [RCV000767721] Chr15:22770994..29050198 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) copy number gain 15q11q13 microduplication syndrome [RCV000767722] Chr15:22383299..32917689 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432) copy number gain 15q11q13 microduplication syndrome [RCV000767723] Chr15:22770994..28517432 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NC_000015.10:g.(?_24566038)_(25781223_?)dup duplication Angelman syndrome [RCV001032676] Chr15:24811185..26026370 [GRCh37]
Chr15:15q11.2-12
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896) copy number gain 15q11q13 microduplication syndrome [RCV000767753] Chr15:23810184..29213896 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2378_2381del (p.Ser793fs) microsatellite Angelman syndrome [RCV001048607] Chr15:25340202..25340205 [GRCh38]
Chr15:25585349..25585352 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.410G>A (p.Cys137Tyr) single nucleotide variant Angelman syndrome [RCV001072041] Chr15:25371764 [GRCh38]
Chr15:25616911 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.589G>A (p.Ala197Thr) single nucleotide variant Angelman syndrome [RCV001060515] Chr15:25371585 [GRCh38]
Chr15:25616732 [GRCh37]
Chr15:15q11.2
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787376] Chr15:23699983..28436313 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) copy number gain 15q11q13 microduplication syndrome [RCV000767720] Chr15:22382860..32396457 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) copy number loss Angelman syndrome [RCV000767725] Chr15:23683783..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505) copy number gain 15q11q13 microduplication syndrome [RCV000767754] Chr15:23810397..28525505 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2442G>A (p.Val814=) single nucleotide variant Angelman syndrome [RCV001474694] Chr15:25340141 [GRCh38]
Chr15:25585288 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.291G>A (p.Ser97=) single nucleotide variant Angelman syndrome [RCV001472023] Chr15:25375535 [GRCh38]
Chr15:25620682 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.873A>G (p.Arg291=) single nucleotide variant Angelman syndrome [RCV001487150] Chr15:25371301 [GRCh38]
Chr15:25616448 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1428A>G (p.Thr476=) single nucleotide variant Angelman syndrome [RCV000872475] Chr15:25370746 [GRCh38]
Chr15:25615893 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) copy number gain 15q11q13 microduplication syndrome [RCV000767718] Chr15:20191652..28525310 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-25648680)x1 copy number loss Hypotonia [RCV002284313] Chr15:22770421..25648680 [GRCh37]
Chr15:15q11.2
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) copy number loss Angelman syndrome [RCV000767719] Chr15:20848750..32925141 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) copy number loss Angelman syndrome [RCV000767724] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) copy number loss Prader-Willi syndrome [RCV000767726] Chr15:23810184..28525505 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.63-68_63-66del microsatellite not provided [RCV000832469] Chr15:25375829..25375831 [GRCh38]
Chr15:25620976..25620978 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.1960-277C>T single nucleotide variant not provided [RCV000827909] Chr15:25356333 [GRCh38]
Chr15:25601480 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.1754-271A>G single nucleotide variant not provided [RCV000831640] Chr15:25357167 [GRCh38]
Chr15:25602314 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.986A>G (p.Asn329Ser) single nucleotide variant Angelman syndrome [RCV000810290]|not provided [RCV001573453] Chr15:25371188 [GRCh38]
Chr15:25616335 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter) single nucleotide variant Angelman syndrome [RCV000989275]|Intellectual disability [RCV001260805] Chr15:25371348 [GRCh38]
Chr15:25616495 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.883A>G (p.Ser295Gly) single nucleotide variant Angelman syndrome [RCV000985022] Chr15:25371291 [GRCh38]
Chr15:25616438 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.425A>C (p.Asp142Ala) single nucleotide variant Angelman syndrome [RCV000818599] Chr15:25371749 [GRCh38]
Chr15:25616896 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.62+289_62+293del microsatellite not provided [RCV000827954] Chr15:25405168..25405172 [GRCh38]
Chr15:25650315..25650319 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.1609-303_1609-302insCTAA insertion not provided [RCV000827798] Chr15:25360829..25360830 [GRCh38]
Chr15:25605976..25605977 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.362-115C>T single nucleotide variant not provided [RCV000834563] Chr15:25371927 [GRCh38]
Chr15:25617074 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.983_987del (p.Tyr328fs) deletion Intellectual disability [RCV000850199] Chr15:25371187..25371191 [GRCh38]
Chr15:25616334..25616338 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1060A>G (p.Asn354Asp) single nucleotide variant Angelman syndrome [RCV000801133] Chr15:25371114 [GRCh38]
Chr15:25616261 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2426_2427del (p.Thr809fs) microsatellite Angelman syndrome [RCV000824274] Chr15:25340156..25340157 [GRCh38]
Chr15:25585303..25585304 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2003A>G (p.Asn668Ser) single nucleotide variant Angelman syndrome [RCV000798442]|UBE3A-related condition [RCV003411755] Chr15:25356013 [GRCh38]
Chr15:25601160 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2499-219A>G single nucleotide variant not provided [RCV000837067] Chr15:25339476 [GRCh38]
Chr15:25584623 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.1405_1408del (p.Glu469fs) deletion Angelman syndrome [RCV000989274] Chr15:25370766..25370769 [GRCh38]
Chr15:25615913..25615916 [GRCh37]
Chr15:15q11.2
likely pathogenic
GRCh37/hg19 15q11.2(chr15:25583840-25611877)x1 copy number loss not provided [RCV001007486] Chr15:25583840..25611877 [GRCh37]
Chr15:15q11.2
likely pathogenic
NC_000015.10:g.(?_25339117)_(25360547_?)dup duplication Angelman syndrome [RCV001031042] Chr15:25584264..25605694 [GRCh37]
Chr15:15q11.2
uncertain significance
Single allele complex Esophageal atresia [RCV000986105] Chr15:22676913..30137106 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication 15q11q13 microduplication syndrome [RCV000825026] Chr15:23810928..28544664 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4 copy number gain not provided [RCV001006662] Chr15:22770421..30386553 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu) single nucleotide variant Angelman syndrome [RCV000810663] Chr15:25340139 [GRCh38]
Chr15:25585286 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3 copy number gain not provided [RCV000846014] Chr15:20179527..32998070 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
NM_130839.5(UBE3A):c.589G>T (p.Ala197Ser) single nucleotide variant Angelman syndrome [RCV000805189]|Inborn genetic diseases [RCV002534803] Chr15:25371585 [GRCh38]
Chr15:25616732 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1482T>C (p.Asn494=) single nucleotide variant Angelman syndrome [RCV000805190]|not provided [RCV001637993] Chr15:25370692 [GRCh38]
Chr15:25615839 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.2354+164C>T single nucleotide variant not provided [RCV000837087] Chr15:25354189 [GRCh38]
Chr15:25599336 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1322del (p.Ile441fs) deletion Angelman syndrome [RCV000799398] Chr15:25370852 [GRCh38]
Chr15:25615999 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2125-96_2125-94del deletion not provided [RCV001581866] Chr15:25354777..25354779 [GRCh38]
Chr15:25599924..25599926 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2499-152T>C single nucleotide variant not provided [RCV000831541] Chr15:25339409 [GRCh38]
Chr15:25584556 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.2281-9A>G single nucleotide variant Angelman syndrome [RCV001858577] Chr15:25354435 [GRCh38]
Chr15:25599582 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1 copy number loss not provided [RCV001006665] Chr15:23213406..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_130839.5(UBE3A):c.2391del (p.Glu797fs) deletion not provided [RCV001008597] Chr15:25340192 [GRCh38]
Chr15:25585339 [GRCh37]
Chr15:15q11.2
likely pathogenic
GRCh37/hg19 15q11.2(chr15:24889575-25611877)x3 copy number gain not provided [RCV000849804] Chr15:24889575..25611877 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:24740574-28659911)x1 copy number loss not provided [RCV001007484] Chr15:24740574..28659911 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2517_2553dup (p.Lys852delinsLeuLeuTer) duplication Angelman syndrome [RCV000989270] Chr15:25339202..25339203 [GRCh38]
Chr15:25584349..25584350 [GRCh37]
Chr15:15q11.2
likely pathogenic
Single allele deletion Angelman syndrome [RCV001250751] Chr15:23579300..28447626 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele deletion Angelman syndrome [RCV001250750] Chr15:22833416..28566671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele deletion Angelman syndrome [RCV001250749] Chr15:22646692..28964445 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2567_2568dup (p.Glu857fs) duplication not provided [RCV001008324] Chr15:25339187..25339188 [GRCh38]
Chr15:25584334..25584335 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2279G>A (p.Arg760Gln) single nucleotide variant Angelman syndrome [RCV001202865] Chr15:25354529 [GRCh38]
Chr15:25599676 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.826C>A (p.Arg276=) single nucleotide variant Angelman syndrome [RCV001237551] Chr15:25371348 [GRCh38]
Chr15:25616495 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.675C>A (p.Gly225=) single nucleotide variant not provided [RCV000995274] Chr15:25371499 [GRCh38]
Chr15:25616646 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.333C>A (p.Asn111Lys) single nucleotide variant not provided [RCV000995275] Chr15:25375493 [GRCh38]
Chr15:25620640 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.20+473G>A single nucleotide variant not provided [RCV000995276] Chr15:25408615 [GRCh38]
Chr15:25653762 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.659A>G (p.Asn220Ser) single nucleotide variant Angelman syndrome [RCV001221514] Chr15:25371515 [GRCh38]
Chr15:25616662 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1012G>T (p.Glu338Ter) single nucleotide variant Angelman syndrome [RCV001221493] Chr15:25371162 [GRCh38]
Chr15:25616309 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1976T>G (p.Leu659Ter) single nucleotide variant Angelman syndrome [RCV000989272] Chr15:25356040 [GRCh38]
Chr15:25601187 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.20+402A>G single nucleotide variant not provided [RCV003313497] Chr15:25408686 [GRCh38]
Chr15:25653833 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.340G>A (p.Gly114Ser) single nucleotide variant not provided [RCV003313587] Chr15:25375486 [GRCh38]
Chr15:25620633 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh38/hg38 15q11.2(chr15:25354042-25357067)x1 copy number loss Angelman syndrome [RCV003327620] Chr15:25354042..25357067 [GRCh38]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.393del (p.Val130_Tyr131insTer) deletion not provided [RCV001008049] Chr15:25371781 [GRCh38]
Chr15:25616928 [GRCh37]
Chr15:15q11.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579) copy number gain 15q11q13 microduplication syndrome [RCV003236743] Chr15:23684691..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.940C>A (p.Pro314Thr) single nucleotide variant not provided [RCV003127010] Chr15:25371234 [GRCh38]
Chr15:25616381 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.422A>G (p.Glu141Gly) single nucleotide variant not provided [RCV003231686] Chr15:25371752 [GRCh38]
Chr15:25616899 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2035A>G (p.Ile679Val) single nucleotide variant not provided [RCV003127068] Chr15:25355981 [GRCh38]
Chr15:25601128 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.*199A>G single nucleotide variant not provided [RCV001549953] Chr15:25338938 [GRCh38]
Chr15:25584085 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1936C>T (p.Arg646Cys) single nucleotide variant not provided [RCV001576361] Chr15:25356714 [GRCh38]
Chr15:25601861 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.988_989delinsTT (p.Ala330Leu) indel not provided [RCV001575793] Chr15:25371185..25371186 [GRCh38]
Chr15:25616332..25616333 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1165C>A (p.His389Asn) single nucleotide variant not provided [RCV001568657] Chr15:25371009 [GRCh38]
Chr15:25616156 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1609-57dup duplication not provided [RCV001534377] Chr15:25360577..25360578 [GRCh38]
Chr15:25605724..25605725 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.-165+5542A>G single nucleotide variant not provided [RCV001684610] Chr15:25432947 [GRCh38]
Chr15:25678094 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.*12del deletion not provided [RCV001652662] Chr15:25339125 [GRCh38]
Chr15:25584272 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.-165+10693del deletion not provided [RCV001716408] Chr15:25427796 [GRCh38]
Chr15:25672943 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.1754-3T>C single nucleotide variant Angelman syndrome [RCV002032557]|not provided [RCV001546001] Chr15:25356899 [GRCh38]
Chr15:25602046 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.2281-40_2281-38del microsatellite not provided [RCV001677329] Chr15:25354464..25354466 [GRCh38]
Chr15:25599611..25599613 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.1770T>C (p.Asp590=) single nucleotide variant Angelman syndrome [RCV001437207] Chr15:25356880 [GRCh38]
Chr15:25602027 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.211G>T (p.Glu71Ter) single nucleotide variant Angelman syndrome [RCV000853580] Chr15:25375615 [GRCh38]
Chr15:25620762 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1002G>A (p.Arg334=) single nucleotide variant Angelman syndrome [RCV001421637] Chr15:25371172 [GRCh38]
Chr15:25616319 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.578C>G (p.Ala193Gly) single nucleotide variant Angelman syndrome [RCV001236585] Chr15:25371596 [GRCh38]
Chr15:25616743 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2124+6_2124+9del deletion Angelman syndrome [RCV001223325] Chr15:25355883..25355886 [GRCh38]
Chr15:25601030..25601033 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.400C>A (p.Leu134Ile) single nucleotide variant Angelman syndrome [RCV001227497] Chr15:25371774 [GRCh38]
Chr15:25616921 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.172C>T (p.Leu58Phe) single nucleotide variant Angelman syndrome [RCV001206599] Chr15:25375654 [GRCh38]
Chr15:25620801 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2600_2604dup (p.Phe869fs) duplication Angelman syndrome [RCV001235083] Chr15:25339151..25339152 [GRCh38]
Chr15:25584298..25584299 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.2198G>T (p.Gly733Val) single nucleotide variant Angelman syndrome [RCV000989271] Chr15:25354610 [GRCh38]
Chr15:25599757 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.362-10G>T single nucleotide variant Angelman syndrome [RCV000957249] Chr15:25371822 [GRCh38]
Chr15:25616969 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.867G>A (p.Glu289=) single nucleotide variant Angelman syndrome [RCV002726266] Chr15:25371307 [GRCh38]
Chr15:25616454 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1204A>C (p.Ser402Arg) single nucleotide variant not provided [RCV003234438] Chr15:25370970 [GRCh38]
Chr15:25616117 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.-100-195A>G single nucleotide variant not provided [RCV001594557] Chr15:25409402 [GRCh38]
Chr15:25654549 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2458_2461dup (p.Lys821fs) duplication Angelman syndrome [RCV002466383] Chr15:25340121..25340122 [GRCh38]
Chr15:25585268..25585269 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1789dup (p.Trp597fs) duplication not provided [RCV001008254] Chr15:25356860..25356861 [GRCh38]
Chr15:25602007..25602008 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.960A>G (p.Lys320=) single nucleotide variant not provided [RCV001619233] Chr15:25371214 [GRCh38]
Chr15:25616361 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.-165+631dup duplication not provided [RCV001597775] Chr15:25437850..25437851 [GRCh38]
Chr15:25682997..25682998 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.20+251T>C single nucleotide variant not provided [RCV001643484] Chr15:25408837 [GRCh38]
Chr15:25653984 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.-100-317del deletion not provided [RCV001597866] Chr15:25409524 [GRCh38]
Chr15:25654671 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.-176G>A single nucleotide variant not provided [RCV001595731] Chr15:25438500 [GRCh38]
Chr15:25683647 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.1754-161G>C single nucleotide variant not provided [RCV001594556] Chr15:25357057 [GRCh38]
Chr15:25602204 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.-164-10858dup duplication not provided [RCV001716606] Chr15:25422812..25422813 [GRCh38]
Chr15:25667959..25667960 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter) single nucleotide variant Angelman syndrome [RCV001071345]|not provided [RCV002051915] Chr15:25371108 [GRCh38]
Chr15:25616255 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2535_2544dup (p.Tyr849fs) duplication not provided [RCV001092398] Chr15:25339211..25339212 [GRCh38]
Chr15:25584358..25584359 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.343G>A (p.Ala115Thr) single nucleotide variant Angelman syndrome [RCV001048073] Chr15:25375483 [GRCh38]
Chr15:25620630 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2198G>A (p.Gly733Asp) single nucleotide variant not specified [RCV001174844] Chr15:25354610 [GRCh38]
Chr15:25599757 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2589C>A (p.Ile863=) single nucleotide variant not provided [RCV001588605] Chr15:25339167 [GRCh38]
Chr15:25584314 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1131T>A (p.Tyr377Ter) single nucleotide variant Angelman syndrome [RCV001050018] Chr15:25371043 [GRCh38]
Chr15:25616190 [GRCh37]
Chr15:15q11.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1 copy number loss not provided [RCV001537909] Chr15:23616095..28538904 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.-164-5921T>A single nucleotide variant not provided [RCV001666243] Chr15:25417892 [GRCh38]
Chr15:25663039 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.-298A>G single nucleotide variant not provided [RCV001545401] Chr15:25438622 [GRCh38]
Chr15:25683769 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.20+545G>A single nucleotide variant not provided [RCV001585050] Chr15:25408543 [GRCh38]
Chr15:25653690 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1608+304C>G single nucleotide variant not provided [RCV001582277] Chr15:25370262 [GRCh38]
Chr15:25615409 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1546T>C (p.Leu516=) single nucleotide variant not provided [RCV001574679] Chr15:25370628 [GRCh38]
Chr15:25615775 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1568A>G (p.Lys523Arg) single nucleotide variant Angelman syndrome [RCV001060776]|not provided [RCV002469336] Chr15:25370606 [GRCh38]
Chr15:25615753 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.295G>T (p.Gly99Cys) single nucleotide variant Angelman syndrome [RCV001216704]|not provided [RCV001586059] Chr15:25375531 [GRCh38]
Chr15:25620678 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.147G>T (p.Glu49Asp) single nucleotide variant Angelman syndrome [RCV001206328] Chr15:25375679 [GRCh38]
Chr15:25620826 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2355-3T>C single nucleotide variant Angelman syndrome [RCV001202492] Chr15:25340231 [GRCh38]
Chr15:25585378 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.330G>C (p.Met110Ile) single nucleotide variant Angelman syndrome [RCV001049447] Chr15:25375496 [GRCh38]
Chr15:25620643 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1067G>A (p.Arg356Gln) single nucleotide variant Angelman syndrome [RCV001064036] Chr15:25371107 [GRCh38]
Chr15:25616254 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.167C>A (p.Thr56Asn) single nucleotide variant Angelman syndrome [RCV001229891] Chr15:25375659 [GRCh38]
Chr15:25620806 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.161G>A (p.Cys54Tyr) single nucleotide variant Angelman syndrome [RCV001040169]|not provided [RCV003235451] Chr15:25375665 [GRCh38]
Chr15:25620812 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser) single nucleotide variant Angelman syndrome [RCV001054488]|not provided [RCV001585954] Chr15:25371582 [GRCh38]
Chr15:25616729 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.2344_2345del (p.Val782fs) deletion Angelman syndrome [RCV001203004] Chr15:25354362..25354363 [GRCh38]
Chr15:25599509..25599510 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1006A>C (p.Met336Leu) single nucleotide variant Angelman syndrome [RCV001063115]|not provided [RCV002051914] Chr15:25371168 [GRCh38]
Chr15:25616315 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2033A>G (p.Gln678Arg) single nucleotide variant Angelman syndrome [RCV001260931] Chr15:25355983 [GRCh38]
Chr15:25601130 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp) single nucleotide variant Angelman syndrome [RCV001264747] Chr15:25356786 [GRCh38]
Chr15:25601933 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.2446G>C (p.Gly816Arg) single nucleotide variant Inborn genetic diseases [RCV001266969] Chr15:25340137 [GRCh38]
Chr15:25585284 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) copy number loss Prader-Willi syndrome [RCV002280643] Chr15:22770421..28635058 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2438C>T (p.Pro813Leu) single nucleotide variant not provided [RCV001311375] Chr15:25340145 [GRCh38]
Chr15:25585292 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.916T>A (p.Phe306Ile) single nucleotide variant Angelman syndrome [RCV001303102] Chr15:25371258 [GRCh38]
Chr15:25616405 [GRCh37]
Chr15:15q11.2
uncertain significance
Single allele duplication 15q11q13 microduplication syndrome [RCV002280354] Chr15:22810652..29822566 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr) single nucleotide variant Intellectual disability [RCV001260797] Chr15:25354553 [GRCh38]
Chr15:25599700 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NC_000015.9:g.(?_25584284)_(25585395_?)dup duplication Angelman syndrome [RCV002002152] Chr15:25584284..25585395 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2483G>A (p.Gly828Asp) single nucleotide variant Intellectual disability [RCV001260778] Chr15:25340100 [GRCh38]
Chr15:25585247 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.535C>T (p.Gln179Ter) single nucleotide variant not provided [RCV001268541] Chr15:25371639 [GRCh38]
Chr15:25616786 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.-100-312C>T single nucleotide variant not provided [RCV001536415] Chr15:25409519 [GRCh38]
Chr15:25654666 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2617_*12del (p.Ter873del) deletion not provided [RCV001268249] Chr15:25339125..25339139 [GRCh38]
Chr15:25584272..25584286 [GRCh37]
Chr15:15q11.2
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838) copy number loss Angelman syndrome [RCV002280758] Chr15:23290862..28522838 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.1969C>T (p.Gln657Ter) single nucleotide variant not provided [RCV001268484] Chr15:25356047 [GRCh38]
Chr15:25601194 [GRCh37]
Chr15:15q11.2
pathogenic
NM_000462.3(UBE3A):c.2365delG deletion Angelman syndrome [RCV001290256] Chr15:25340227 [GRCh38]
Chr15:25585374 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2410C>T (p.Gln804Ter) single nucleotide variant Angelman syndrome [RCV001265637] Chr15:25340173 [GRCh38]
Chr15:25585320 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.62+2dup duplication Intellectual disability [RCV001260838] Chr15:25405458..25405459 [GRCh38]
Chr15:25650605..25650606 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1477G>A (p.Asp493Asn) single nucleotide variant Angelman syndrome [RCV001350813] Chr15:25370697 [GRCh38]
Chr15:25615844 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1 copy number loss not provided [RCV001281355] Chr15:23707435..28726651 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2498+3A>G single nucleotide variant Angelman syndrome [RCV001317949] Chr15:25340082 [GRCh38]
Chr15:25585229 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1402del (p.Thr468fs) deletion Angelman syndrome [RCV001334474] Chr15:25370772 [GRCh38]
Chr15:25615919 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1221G>A (p.Gln407=) single nucleotide variant Angelman syndrome [RCV001447789]|not provided [RCV001311378] Chr15:25370953 [GRCh38]
Chr15:25616100 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1764A>T (p.Thr588=) single nucleotide variant Angelman syndrome [RCV001422947] Chr15:25356886 [GRCh38]
Chr15:25602033 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.618A>G (p.Ala206=) single nucleotide variant Angelman syndrome [RCV001397647] Chr15:25371556 [GRCh38]
Chr15:25616703 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1830T>C (p.Thr610=) single nucleotide variant Angelman syndrome [RCV001414745] Chr15:25356820 [GRCh38]
Chr15:25601967 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2155C>T (p.Leu719Phe) single nucleotide variant not provided [RCV001311376] Chr15:25354653 [GRCh38]
Chr15:25599800 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2147A>T (p.Asp716Val) single nucleotide variant not provided [RCV001311377] Chr15:25354661 [GRCh38]
Chr15:25599808 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2421G>A (p.Thr807=) single nucleotide variant Angelman syndrome [RCV001309466] Chr15:25340162 [GRCh38]
Chr15:25585309 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.131A>C (p.Glu44Ala) single nucleotide variant Angelman syndrome [RCV001307559] Chr15:25375695 [GRCh38]
Chr15:25620842 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.580G>C (p.Ala194Pro) single nucleotide variant Angelman syndrome [RCV001324181] Chr15:25371594 [GRCh38]
Chr15:25616741 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2416A>G (p.Thr806Ala) single nucleotide variant Angelman syndrome [RCV001347148] Chr15:25340167 [GRCh38]
Chr15:25585314 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23208842-28525460) copy number gain Epileptic encephalopathy [RCV001291989] Chr15:23208842..28525460 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.511A>T (p.Thr171Ser) single nucleotide variant Angelman syndrome [RCV001338171]|not provided [RCV003314688] Chr15:25371663 [GRCh38]
Chr15:25616810 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.835A>G (p.Asn279Asp) single nucleotide variant Angelman syndrome [RCV001308824] Chr15:25371339 [GRCh38]
Chr15:25616486 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1153G>T (p.Val385Leu) single nucleotide variant Angelman syndrome [RCV001317929]|not provided [RCV001567021] Chr15:25371021 [GRCh38]
Chr15:25616168 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2181C>G (p.Phe727Leu) single nucleotide variant Angelman syndrome [RCV001341393] Chr15:25354627 [GRCh38]
Chr15:25599774 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.853A>G (p.Ile285Val) single nucleotide variant Angelman syndrome [RCV001306219] Chr15:25371321 [GRCh38]
Chr15:25616468 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1936C>A (p.Arg646Ser) single nucleotide variant Angelman syndrome [RCV001319675] Chr15:25356714 [GRCh38]
Chr15:25601861 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2263C>G (p.Leu755Val) single nucleotide variant Angelman syndrome [RCV001305337] Chr15:25354545 [GRCh38]
Chr15:25599692 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.444T>G (p.Arg148=) single nucleotide variant Angelman syndrome [RCV001395672] Chr15:25371730 [GRCh38]
Chr15:25616877 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.-164-3898dup duplication not provided [RCV001356808] Chr15:25415849..25415850 [GRCh38]
Chr15:25660996..25660997 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1937G>T (p.Arg646Leu) single nucleotide variant Angelman syndrome [RCV001305075] Chr15:25356713 [GRCh38]
Chr15:25601860 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.270C>T (p.Ser90=) single nucleotide variant Angelman syndrome [RCV001414222] Chr15:25375556 [GRCh38]
Chr15:25620703 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.361+6A>G single nucleotide variant Angelman syndrome [RCV001368621] Chr15:25375459 [GRCh38]
Chr15:25620606 [GRCh37]
Chr15:15q11.2
uncertain significance
NC_000015.9:g.(?_25584264)_(25605694_?)dup duplication Angelman syndrome [RCV001316809] Chr15:25584264..25605694 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.790G>A (p.Val264Met) single nucleotide variant Angelman syndrome [RCV001339093] Chr15:25371384 [GRCh38]
Chr15:25616531 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.87A>G (p.Leu29=) single nucleotide variant Angelman syndrome [RCV001464838] Chr15:25375739 [GRCh38]
Chr15:25620886 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.235C>T (p.Leu79Phe) single nucleotide variant not provided [RCV001508748] Chr15:25375591 [GRCh38]
Chr15:25620738 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1800A>G (p.Pro600=) single nucleotide variant Angelman syndrome [RCV001479450] Chr15:25356850 [GRCh38]
Chr15:25601997 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2423G>A (p.Gly808Asp) single nucleotide variant Angelman syndrome [RCV001379188] Chr15:25340160 [GRCh38]
Chr15:25585307 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1719G>A (p.Gln573=) single nucleotide variant Angelman syndrome [RCV001474465] Chr15:25360417 [GRCh38]
Chr15:25605564 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.858C>T (p.Ile286=) single nucleotide variant Angelman syndrome [RCV001442514]|not provided [RCV001712901] Chr15:25371316 [GRCh38]
Chr15:25616463 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.861A>G (p.Val287=) single nucleotide variant Angelman syndrome [RCV001463416] Chr15:25371313 [GRCh38]
Chr15:25616460 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2(chr15:25582396-25684175)x1 copy number loss Angelman syndrome [RCV001535541] Chr15:25582396..25684175 [GRCh37]
Chr15:15q11.2
not provided
NC_000015.10:g.22804175_30375696dup duplication 15q11q13 microduplication syndrome [RCV001420629] Chr15:22804175..30375696 [GRCh38]
Chr15:15q11.2-13.2
pathogenic
NM_130839.5(UBE3A):c.62+9A>G single nucleotide variant Angelman syndrome [RCV001407486] Chr15:25405452 [GRCh38]
Chr15:25650599 [GRCh37]
Chr15:15q11.2
likely benign
NC_000015.9:g.(?_25584273)_(25650609_?)del deletion Angelman syndrome [RCV001380721] Chr15:25584273..25650609 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.961C>T (p.Leu321=) single nucleotide variant Angelman syndrome [RCV001431320] Chr15:25371213 [GRCh38]
Chr15:25616360 [GRCh37]
Chr15:15q11.2
likely benign
NC_000015.9:g.(?_25584273)_(25650609_?)dup duplication Angelman syndrome [RCV001388562] Chr15:25584273..25650609 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.303C>T (p.Pro101=) single nucleotide variant Angelman syndrome [RCV001423941] Chr15:25375523 [GRCh38]
Chr15:25620670 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.459T>G (p.Val153=) single nucleotide variant Angelman syndrome [RCV001411072] Chr15:25371715 [GRCh38]
Chr15:25616862 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.807G>A (p.Thr269=) single nucleotide variant Angelman syndrome [RCV001445583] Chr15:25371367 [GRCh38]
Chr15:25616514 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.*23C>A single nucleotide variant not provided [RCV001717101] Chr15:25339114 [GRCh38]
Chr15:25584261 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.660T>C (p.Asn220=) single nucleotide variant Angelman syndrome [RCV001454064] Chr15:25371514 [GRCh38]
Chr15:25616661 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.587C>T (p.Ser196Phe) single nucleotide variant not provided [RCV001590597] Chr15:25371587 [GRCh38]
Chr15:25616734 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2124+9_2124+10insTT insertion Angelman syndrome [RCV001458549] Chr15:25355882..25355883 [GRCh38]
Chr15:25601029..25601030 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1347A>G (p.Glu449=) single nucleotide variant Angelman syndrome [RCV001473601] Chr15:25370827 [GRCh38]
Chr15:25615974 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.-164-10842del deletion not provided [RCV001695687] Chr15:25422813 [GRCh38]
Chr15:25667960 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.1248C>T (p.Asn416=) single nucleotide variant Angelman syndrome [RCV001458986] Chr15:25370926 [GRCh38]
Chr15:25616073 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.-165+10692_-165+10693del deletion not provided [RCV001695952] Chr15:25427796..25427797 [GRCh38]
Chr15:25672943..25672944 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.-165+630T>C single nucleotide variant not provided [RCV001608950] Chr15:25437859 [GRCh38]
Chr15:25683006 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.*22_*35del deletion not provided [RCV001589989] Chr15:25339102..25339115 [GRCh38]
Chr15:25584249..25584262 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.858C>A (p.Ile286=) single nucleotide variant not provided [RCV001716640] Chr15:25371316 [GRCh38]
Chr15:25616463 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.2313A>G (p.Thr771=) single nucleotide variant Angelman syndrome [RCV001440187] Chr15:25354394 [GRCh38]
Chr15:25599541 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1860T>A (p.Ile620=) single nucleotide variant Angelman syndrome [RCV001502505] Chr15:25356790 [GRCh38]
Chr15:25601937 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.238T>C (p.Cys80Arg) single nucleotide variant Angelman syndrome [RCV001377695] Chr15:25375588 [GRCh38]
Chr15:25620735 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.2515_2531dup (p.Leu846fs) duplication Angelman syndrome [RCV001386580] Chr15:25339224..25339225 [GRCh38]
Chr15:25584371..25584372 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1596T>C (p.Asp532=) single nucleotide variant Angelman syndrome [RCV001455071] Chr15:25370578 [GRCh38]
Chr15:25615725 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.81G>A (p.Lys27=) single nucleotide variant Angelman syndrome [RCV001399448] Chr15:25375745 [GRCh38]
Chr15:25620892 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2498+1G>A single nucleotide variant Angelman syndrome [RCV002246802] Chr15:25340084 [GRCh38]
Chr15:25585231 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1960G>C (p.Val654Leu) single nucleotide variant Angelman syndrome [RCV001726508] Chr15:25356056 [GRCh38]
Chr15:25601203 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1325C>T (p.Pro442Leu) single nucleotide variant not provided [RCV001756455] Chr15:25370849 [GRCh38]
Chr15:25615996 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.357T>G (p.Phe119Leu) single nucleotide variant not provided [RCV001754786] Chr15:25375469 [GRCh38]
Chr15:25620616 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.654CAA[1] (p.Asn220del) microsatellite Angelman syndrome [RCV001882886]|not provided [RCV001763526] Chr15:25371515..25371517 [GRCh38]
Chr15:25616662..25616664 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.91G>A (p.Glu31Lys) single nucleotide variant not provided [RCV001758276] Chr15:25375735 [GRCh38]
Chr15:25620882 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.307A>G (p.Asn103Asp) single nucleotide variant not provided [RCV001758759] Chr15:25375519 [GRCh38]
Chr15:25620666 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1972A>C (p.Ser658Arg) single nucleotide variant not provided [RCV001751857] Chr15:25356044 [GRCh38]
Chr15:25601191 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2162_2166dup (p.Val723fs) duplication Angelman syndrome [RCV001785106] Chr15:25354641..25354642 [GRCh38]
Chr15:25599788..25599789 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.248A>G (p.His83Arg) single nucleotide variant not provided [RCV001787676] Chr15:25375578 [GRCh38]
Chr15:25620725 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.-164-969dup duplication not provided [RCV001786920] Chr15:25412939..25412940 [GRCh38]
Chr15:25658086..25658087 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1682G>A (p.Gly561Glu) single nucleotide variant Angelman syndrome [RCV001788548] Chr15:25360454 [GRCh38]
Chr15:25605601 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1708G>C (p.Glu570Gln) single nucleotide variant not provided [RCV001764024] Chr15:25360428 [GRCh38]
Chr15:25605575 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1277A>C (p.Glu426Ala) single nucleotide variant not provided [RCV001754417] Chr15:25370897 [GRCh38]
Chr15:25616044 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.-165+620T>G single nucleotide variant not provided [RCV001786171] Chr15:25437869 [GRCh38]
Chr15:25683016 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2-12(chr15:22722801-26749200) copy number gain Cerebral palsy [RCV001796580] Chr15:22722801..26749200 [GRCh37]
Chr15:15q11.2-12
risk factor
NM_130839.5(UBE3A):c.-164-11055A>G single nucleotide variant not provided [RCV001786031] Chr15:25423026 [GRCh38]
Chr15:25668173 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1704C>T (p.Ser568=) single nucleotide variant not provided [RCV001768800] Chr15:25360432 [GRCh38]
Chr15:25605579 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.20+465G>A single nucleotide variant Angelman syndrome [RCV001775356] Chr15:25408623 [GRCh38]
Chr15:25653770 [GRCh37]
Chr15:15q11.2
likely pathogenic|likely benign
NM_130839.5(UBE3A):c.2357A>C (p.Glu786Ala) single nucleotide variant not provided [RCV001799978] Chr15:25340226 [GRCh38]
Chr15:25585373 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.676C>T (p.Pro226Ser) single nucleotide variant not provided [RCV001765227] Chr15:25371498 [GRCh38]
Chr15:25616645 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1192A>G (p.Ile398Val) single nucleotide variant Angelman syndrome [RCV002540285]|not provided [RCV001770846] Chr15:25370982 [GRCh38]
Chr15:25616129 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1933T>G (p.Phe645Val) single nucleotide variant not provided [RCV001765701] Chr15:25356717 [GRCh38]
Chr15:25601864 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1207G>A (p.Glu403Lys) single nucleotide variant not provided [RCV001771242] Chr15:25370967 [GRCh38]
Chr15:25616114 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.-164-5870T>G single nucleotide variant not provided [RCV001786974] Chr15:25417841 [GRCh38]
Chr15:25662988 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.211G>A (p.Glu71Lys) single nucleotide variant not provided [RCV001787605] Chr15:25375615 [GRCh38]
Chr15:25620762 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.-165+630del deletion not provided [RCV001786928] Chr15:25437859 [GRCh38]
Chr15:25683006 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.943C>T (p.Leu315Phe) single nucleotide variant not provided [RCV001756963] Chr15:25371231 [GRCh38]
Chr15:25616378 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2238_2240del (p.Leu746del) deletion Angelman syndrome [RCV001861062]|not provided [RCV001758157] Chr15:25354568..25354570 [GRCh38]
Chr15:25599715..25599717 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2376T>C (p.His792=) single nucleotide variant not provided [RCV003394272]|not specified [RCV001819178] Chr15:25340207 [GRCh38]
Chr15:25585354 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.2471T>A (p.Ile824Lys) single nucleotide variant Angelman syndrome [RCV001802619] Chr15:25340112 [GRCh38]
Chr15:25585259 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1687G>T (p.Asp563Tyr) single nucleotide variant not specified [RCV001817911] Chr15:25360449 [GRCh38]
Chr15:25605596 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1675G>C (p.Glu559Gln) single nucleotide variant Angelman syndrome [RCV003155432]|not specified [RCV001817912] Chr15:25360461 [GRCh38]
Chr15:25605608 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1937G>A (p.Arg646His) single nucleotide variant Angelman syndrome [RCV001874671]|Inborn genetic diseases [RCV002406966]|not provided [RCV003314700] Chr15:25356713 [GRCh38]
Chr15:25601860 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1310G>A (p.Arg437Gln) single nucleotide variant Angelman syndrome [RCV001915445]|not provided [RCV003151868] Chr15:25370864 [GRCh38]
Chr15:25616011 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.641G>T (p.Ser214Ile) single nucleotide variant Angelman syndrome [RCV002022157] Chr15:25371533 [GRCh38]
Chr15:25616680 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2114A>G (p.Glu705Gly) single nucleotide variant Angelman syndrome [RCV002024811] Chr15:25355902 [GRCh38]
Chr15:25601049 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.-165+10648T>A single nucleotide variant not provided [RCV001840933] Chr15:25427841 [GRCh38]
Chr15:25672988 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.393T>A (p.Tyr131Ter) single nucleotide variant Angelman syndrome [RCV002002385] Chr15:25371781 [GRCh38]
Chr15:25616928 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.247C>T (p.His83Tyr) single nucleotide variant Angelman syndrome [RCV002005694]|not provided [RCV003313257] Chr15:25375579 [GRCh38]
Chr15:25620726 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1157A>G (p.Asp386Gly) single nucleotide variant Angelman syndrome [RCV002024441] Chr15:25371017 [GRCh38]
Chr15:25616164 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.171del (p.Leu58fs) deletion Angelman syndrome [RCV001864353] Chr15:25375655 [GRCh38]
Chr15:25620802 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2396A>C (p.Lys799Thr) single nucleotide variant Developmental disorder [RCV001843751] Chr15:25340187 [GRCh38]
Chr15:25585334 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.290C>G (p.Ser97Trp) single nucleotide variant Angelman syndrome [RCV001893307] Chr15:25375536 [GRCh38]
Chr15:25620683 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1858A>G (p.Ile620Val) single nucleotide variant Angelman syndrome [RCV001908581] Chr15:25356792 [GRCh38]
Chr15:25601939 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.680ATG[1] (p.Asp228del) microsatellite Angelman syndrome [RCV001912642] Chr15:25371489..25371491 [GRCh38]
Chr15:25616636..25616638 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.171T>A (p.Phe57Leu) single nucleotide variant Angelman syndrome [RCV001912187] Chr15:25375655 [GRCh38]
Chr15:25620802 [GRCh37]
Chr15:15q11.2
uncertain significance
NC_000015.10:g.23370759_30529376del deletion Angelman syndrome [RCV001839262] Chr15:23370759..30529376 [GRCh38]
Chr15:15q11.2-13.2
pathogenic
NM_130839.5(UBE3A):c.2286_2291dup (p.Leu762_Asp763dup) duplication Angelman syndrome [RCV001872968] Chr15:25354415..25354416 [GRCh38]
Chr15:25599562..25599563 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2498+2T>C single nucleotide variant Angelman syndrome [RCV001926484] Chr15:25340083 [GRCh38]
Chr15:25585230 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.178A>G (p.Met60Val) single nucleotide variant Angelman syndrome [RCV002020905] Chr15:25375648 [GRCh38]
Chr15:25620795 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2224C>T (p.Pro742Ser) single nucleotide variant Angelman syndrome [RCV002021426] Chr15:25354584 [GRCh38]
Chr15:25599731 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1474T>C (p.Tyr492His) single nucleotide variant not provided [RCV001840865] Chr15:25370700 [GRCh38]
Chr15:25615847 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.574A>G (p.Lys192Glu) single nucleotide variant Angelman syndrome [RCV001927857] Chr15:25371600 [GRCh38]
Chr15:25616747 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1894A>G (p.Met632Val) single nucleotide variant Angelman syndrome [RCV002040348] Chr15:25356756 [GRCh38]
Chr15:25601903 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2216A>G (p.Asn739Ser) single nucleotide variant Angelman syndrome [RCV001943158] Chr15:25354592 [GRCh38]
Chr15:25599739 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1160C>T (p.Thr387Ile) single nucleotide variant Angelman syndrome [RCV001944683] Chr15:25371014 [GRCh38]
Chr15:25616161 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1625T>G (p.Met542Arg) single nucleotide variant Angelman syndrome [RCV001975520] Chr15:25360511 [GRCh38]
Chr15:25605658 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.296G>A (p.Gly99Asp) single nucleotide variant Angelman syndrome [RCV001959883] Chr15:25375530 [GRCh38]
Chr15:25620677 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1206C>T (p.Ser402=) single nucleotide variant Angelman syndrome [RCV001886897]|Inborn genetic diseases [RCV002458734] Chr15:25370968 [GRCh38]
Chr15:25616115 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.1285C>G (p.Leu429Val) single nucleotide variant Angelman syndrome [RCV001875345] Chr15:25370889 [GRCh38]
Chr15:25616036 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1168A>G (p.Asn390Asp) single nucleotide variant Angelman syndrome [RCV002001042] Chr15:25371006 [GRCh38]
Chr15:25616153 [GRCh37]
Chr15:15q11.2
uncertain significance
NC_000015.9:g.(?_25584284)_(25620930_?)dup duplication Angelman syndrome [RCV001923374] Chr15:25584284..25620930 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2239T>G (p.Phe747Val) single nucleotide variant Angelman syndrome [RCV001905317] Chr15:25354569 [GRCh38]
Chr15:25599716 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.443G>A (p.Arg148His) single nucleotide variant Angelman syndrome [RCV001887981] Chr15:25371731 [GRCh38]
Chr15:25616878 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1786T>G (p.Phe596Val) single nucleotide variant Angelman syndrome [RCV001918406]|UBE3A-related condition [RCV003401868] Chr15:25356864 [GRCh38]
Chr15:25602011 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2239T>C (p.Phe747Leu) single nucleotide variant Angelman syndrome [RCV001918530] Chr15:25354569 [GRCh38]
Chr15:25599716 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1651C>A (p.Gln551Lys) single nucleotide variant Angelman syndrome [RCV001902924] Chr15:25360485 [GRCh38]
Chr15:25605632 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.745A>G (p.Ile249Val) single nucleotide variant Angelman syndrome [RCV001937454] Chr15:25371429 [GRCh38]
Chr15:25616576 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2430_2433dup (p.Ala812fs) microsatellite Angelman syndrome [RCV001933306] Chr15:25340149..25340150 [GRCh38]
Chr15:25585296..25585297 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.819A>G (p.Val273=) single nucleotide variant Angelman syndrome [RCV001953480]|not provided [RCV003395321] Chr15:25371355 [GRCh38]
Chr15:25616502 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2124+1G>T single nucleotide variant Angelman syndrome [RCV001990284] Chr15:25355891 [GRCh38]
Chr15:25601038 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.2265_2267dup (p.Ile756dup) duplication Angelman syndrome [RCV001994246] Chr15:25354540..25354541 [GRCh38]
Chr15:25599687..25599688 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1147G>A (p.Gly383Arg) single nucleotide variant Angelman syndrome [RCV001906125] Chr15:25371027 [GRCh38]
Chr15:25616174 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1609-10C>T single nucleotide variant Angelman syndrome [RCV001885574] Chr15:25360537 [GRCh38]
Chr15:25605684 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2104A>G (p.Ile702Val) single nucleotide variant Angelman syndrome [RCV001921267] Chr15:25355912 [GRCh38]
Chr15:25601059 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.454A>G (p.Arg152Gly) single nucleotide variant Angelman syndrome [RCV002013972] Chr15:25371720 [GRCh38]
Chr15:25616867 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2354+6G>A single nucleotide variant Angelman syndrome [RCV001951792] Chr15:25354347 [GRCh38]
Chr15:25599494 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1607G>A (p.Arg536Gln) single nucleotide variant Angelman syndrome [RCV002035086] Chr15:25370567 [GRCh38]
Chr15:25615714 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.730C>T (p.Leu244Phe) single nucleotide variant Angelman syndrome [RCV001884391] Chr15:25371444 [GRCh38]
Chr15:25616591 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2385del (p.Asp796fs) deletion Angelman syndrome [RCV001931349] Chr15:25340198 [GRCh38]
Chr15:25585345 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.275C>T (p.Ala92Val) single nucleotide variant Angelman syndrome [RCV001898026] Chr15:25375551 [GRCh38]
Chr15:25620698 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.361+16T>A single nucleotide variant Angelman syndrome [RCV002111752] Chr15:25375449 [GRCh38]
Chr15:25620596 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2280+18T>G single nucleotide variant Angelman syndrome [RCV002092099] Chr15:25354510 [GRCh38]
Chr15:25599657 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.828A>G (p.Arg276=) single nucleotide variant Angelman syndrome [RCV002085948] Chr15:25371346 [GRCh38]
Chr15:25616493 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.62+7G>A single nucleotide variant Angelman syndrome [RCV002110297] Chr15:25405454 [GRCh38]
Chr15:25650601 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1566C>T (p.Leu522=) single nucleotide variant Angelman syndrome [RCV002129325] Chr15:25370608 [GRCh38]
Chr15:25615755 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1767del (p.Thr588_Tyr589insTer) deletion not provided [RCV002224470] Chr15:25356883 [GRCh38]
Chr15:25602030 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.2483G>T (p.Gly828Val) single nucleotide variant not provided [RCV002211284] Chr15:25340100 [GRCh38]
Chr15:25585247 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.2406C>A (p.Phe802Leu) single nucleotide variant not provided [RCV002211285] Chr15:25340177 [GRCh38]
Chr15:25585324 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1161A>T (p.Thr387=) single nucleotide variant Angelman syndrome [RCV002089956] Chr15:25371013 [GRCh38]
Chr15:25616160 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2354+13del deletion Angelman syndrome [RCV002174190] Chr15:25354340 [GRCh38]
Chr15:25599487 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.189T>C (p.Asn63=) single nucleotide variant Angelman syndrome [RCV002113182] Chr15:25375637 [GRCh38]
Chr15:25620784 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.927G>T (p.Ala309=) single nucleotide variant Angelman syndrome [RCV002197257] Chr15:25371247 [GRCh38]
Chr15:25616394 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1753+1121C>A single nucleotide variant not provided [RCV002211286] Chr15:25359262 [GRCh38]
Chr15:25604409 [GRCh37]
Chr15:15q11.2
benign|likely benign
NM_130839.5(UBE3A):c.2145T>C (p.Ser715=) single nucleotide variant Angelman syndrome [RCV002187401] Chr15:25354663 [GRCh38]
Chr15:25599810 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.345T>G (p.Ala115=) single nucleotide variant Angelman syndrome [RCV002096997] Chr15:25375481 [GRCh38]
Chr15:25620628 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1086T>C (p.Asp362=) single nucleotide variant Angelman syndrome [RCV002080407] Chr15:25371088 [GRCh38]
Chr15:25616235 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2499-19dup duplication Angelman syndrome [RCV002175059] Chr15:25339275..25339276 [GRCh38]
Chr15:25584422..25584423 [GRCh37]
Chr15:15q11.2
benign
NM_130839.5(UBE3A):c.108G>A (p.Gln36=) single nucleotide variant Angelman syndrome [RCV002175102] Chr15:25375718 [GRCh38]
Chr15:25620865 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1959+15A>G single nucleotide variant Angelman syndrome [RCV002093340] Chr15:25356676 [GRCh38]
Chr15:25601823 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2614C>T (p.Leu872=) single nucleotide variant Angelman syndrome [RCV002077678] Chr15:25339142 [GRCh38]
Chr15:25584289 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1305T>C (p.Asp435=) single nucleotide variant Angelman syndrome [RCV002150070] Chr15:25370869 [GRCh38]
Chr15:25616016 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2499-6A>G single nucleotide variant Angelman syndrome [RCV002170356] Chr15:25339263 [GRCh38]
Chr15:25584410 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.705C>G (p.Ala235=) single nucleotide variant Angelman syndrome [RCV002125189] Chr15:25371469 [GRCh38]
Chr15:25616616 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1809T>C (p.Phe603=) single nucleotide variant Angelman syndrome [RCV002205635] Chr15:25356841 [GRCh38]
Chr15:25601988 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2354+12A>G single nucleotide variant Angelman syndrome [RCV002187618] Chr15:25354341 [GRCh38]
Chr15:25599488 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1884A>C (p.Val628=) single nucleotide variant Angelman syndrome [RCV002194367] Chr15:25356766 [GRCh38]
Chr15:25601913 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1539A>G (p.Gly513=) single nucleotide variant Angelman syndrome [RCV002213444] Chr15:25370635 [GRCh38]
Chr15:25615782 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2499-10C>T single nucleotide variant Angelman syndrome [RCV002148670] Chr15:25339267 [GRCh38]
Chr15:25584414 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2163A>G (p.Lys721=) single nucleotide variant Angelman syndrome [RCV002153440] Chr15:25354645 [GRCh38]
Chr15:25599792 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1014G>A (p.Glu338=) single nucleotide variant Angelman syndrome [RCV002121031] Chr15:25371160 [GRCh38]
Chr15:25616307 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2124+10G>A single nucleotide variant Angelman syndrome [RCV002177949] Chr15:25355882 [GRCh38]
Chr15:25601029 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2354+16C>T single nucleotide variant Angelman syndrome [RCV002176236] Chr15:25354337 [GRCh38]
Chr15:25599484 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.356T>G (p.Phe119Cys) single nucleotide variant Inborn genetic diseases [RCV003093863]|not provided [RCV002222769] Chr15:25375470 [GRCh38]
Chr15:25620617 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.834T>C (p.Pro278=) single nucleotide variant Angelman syndrome [RCV002183302] Chr15:25371340 [GRCh38]
Chr15:25616487 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.768A>G (p.Ala256=) single nucleotide variant Angelman syndrome [RCV002143611] Chr15:25371406 [GRCh38]
Chr15:25616553 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1753+8C>T single nucleotide variant Angelman syndrome [RCV002202891] Chr15:25360375 [GRCh38]
Chr15:25605522 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1134A>G (p.Ala378=) single nucleotide variant Angelman syndrome [RCV002135678] Chr15:25371040 [GRCh38]
Chr15:25616187 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2508A>C (p.Thr836=) single nucleotide variant Angelman syndrome [RCV002136617] Chr15:25339248 [GRCh38]
Chr15:25584395 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.477A>G (p.Ala159=) single nucleotide variant Angelman syndrome [RCV002158061] Chr15:25371697 [GRCh38]
Chr15:25616844 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2124+13T>G single nucleotide variant Angelman syndrome [RCV002102372] Chr15:25355879 [GRCh38]
Chr15:25601026 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.210C>T (p.Leu70=) single nucleotide variant Angelman syndrome [RCV002156967] Chr15:25375616 [GRCh38]
Chr15:25620763 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2125-20G>A single nucleotide variant Angelman syndrome [RCV002202391] Chr15:25354703 [GRCh38]
Chr15:25599850 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2247A>G (p.Pro749=) single nucleotide variant Angelman syndrome [RCV002155146] Chr15:25354561 [GRCh38]
Chr15:25599708 [GRCh37]
Chr15:15q11.2
likely benign
NC_000015.9:g.(?_25615693)_(25650609_?)del deletion Angelman syndrome [RCV003123036] Chr15:25615693..25650609 [GRCh37]
Chr15:15q11.2
pathogenic
NC_000015.9:g.(?_25584284)_(25585395_?)del deletion Angelman syndrome [RCV003123037] Chr15:25584284..25585395 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1820del (p.Gly607fs) deletion Angelman syndrome [RCV003152877] Chr15:25356830 [GRCh38]
Chr15:25601977 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1801T>A (p.Ser601Thr) single nucleotide variant See cases [RCV002253131] Chr15:25356849 [GRCh38]
Chr15:25601996 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1594G>T (p.Asp532Tyr) single nucleotide variant Angelman syndrome [RCV002226830] Chr15:25370580 [GRCh38]
Chr15:25615727 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.732_735del (p.Ser245fs) microsatellite See cases [RCV002253003] Chr15:25371439..25371442 [GRCh38]
Chr15:25616586..25616589 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1040A>C (p.Lys347Thr) single nucleotide variant not provided [RCV003156655] Chr15:25371134 [GRCh38]
Chr15:25616281 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.283G>C (p.Glu95Gln) single nucleotide variant not provided [RCV002287041] Chr15:25375543 [GRCh38]
Chr15:25620690 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2510C>T (p.Ser837Phe) single nucleotide variant Angelman syndrome [RCV002288385] Chr15:25339246 [GRCh38]
Chr15:25584393 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601) copy number gain 15q11q13 microduplication syndrome [RCV002280725] Chr15:23620191..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578) copy number loss Angelman syndrome [RCV002280761] Chr15:23689315..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.1289G>T (p.Gly430Val) single nucleotide variant Angelman syndrome [RCV003096190]|not provided [RCV002276279] Chr15:25370885 [GRCh38]
Chr15:25616032 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.650G>C (p.Gly217Ala) single nucleotide variant not provided [RCV002276297] Chr15:25371524 [GRCh38]
Chr15:25616671 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368) copy number gain See cases [RCV002286340] Chr15:30370019..30374368 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
Single allele complex Distal tetrasomy 15q [RCV002280777] Chr15:22770421..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1 copy number loss not provided [RCV002292908] Chr15:20739497..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838) copy number loss Angelman syndrome [RCV002280757] Chr15:23615768..28522838 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.419G>A (p.Arg140Lys) single nucleotide variant not provided [RCV002288220] Chr15:25371755 [GRCh38]
Chr15:25616902 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399) copy number loss Angelman syndrome [RCV002280759] Chr15:23285775..30386399 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014) copy number loss Angelman syndrome [RCV002280760] Chr15:22770421..29855014 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.1704del (p.Glu570fs) deletion Angelman syndrome [RCV002287308] Chr15:25360432 [GRCh38]
Chr15:25605579 [GRCh37]
Chr15:15q11.2
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29057676)x3 copy number gain FETAL DEMISE [RCV002282734] Chr15:22770421..29057676 [GRCh37]
Chr15:15q11.2-13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x1 copy number loss See cases [RCV002286346] Chr15:23288374..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.422A>T (p.Glu141Val) single nucleotide variant Angelman syndrome [RCV002266676] Chr15:25371752 [GRCh38]
Chr15:25616899 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1838G>T (p.Gly613Val) single nucleotide variant Angelman syndrome [RCV002283872] Chr15:25356812 [GRCh38]
Chr15:25601959 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1318_1321delinsATAAAC (p.Leu440fs) indel Inborn genetic diseases [RCV002421440] Chr15:25370853..25370856 [GRCh38]
Chr15:25616000..25616003 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.677C>G (p.Pro226Arg) single nucleotide variant not provided [RCV003152125] Chr15:25371497 [GRCh38]
Chr15:25616644 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4 copy number gain not provided [RCV002473936] Chr15:22770422..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.362A>G (p.Asp121Gly) single nucleotide variant not provided [RCV002469741] Chr15:25371812 [GRCh38]
Chr15:25616959 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4 copy number gain not provided [RCV002473944] Chr15:22770422..30386553 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3 copy number gain not provided [RCV002474488] Chr15:23615769..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1 copy number loss not provided [RCV002474513] Chr15:23615769..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 copy number gain not provided [RCV002474562] Chr15:22770422..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1 copy number loss not provided [RCV002474564] Chr15:23290787..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.1415T>A (p.Phe472Tyr) single nucleotide variant not provided [RCV002464931] Chr15:25370759 [GRCh38]
Chr15:25615906 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-12(chr15:25512544-25766704)x3 copy number gain not provided [RCV002472443] Chr15:25512544..25766704 [GRCh37]
Chr15:15q11.2-12
uncertain significance
NM_130839.5(UBE3A):c.1435T>A (p.Phe479Ile) single nucleotide variant Angelman syndrome [RCV002304717] Chr15:25370739 [GRCh38]
Chr15:25615886 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1 copy number loss not provided [RCV002472551] Chr15:23670891..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.1322T>G (p.Ile441Ser) single nucleotide variant Inborn genetic diseases [RCV002447586] Chr15:25370852 [GRCh38]
Chr15:25615999 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1199A>T (p.Glu400Val) single nucleotide variant Angelman syndrome [RCV002299599] Chr15:25370975 [GRCh38]
Chr15:25616122 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2169A>G (p.Val723=) single nucleotide variant Inborn genetic diseases [RCV002424333] Chr15:25354639 [GRCh38]
Chr15:25599786 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2516C>T (p.Thr839Ile) single nucleotide variant Inborn genetic diseases [RCV002455455] Chr15:25339240 [GRCh38]
Chr15:25584387 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1983T>C (p.Asp661=) single nucleotide variant Angelman syndrome [RCV003100937]|Inborn genetic diseases [RCV002410768] Chr15:25356033 [GRCh38]
Chr15:25601180 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.886C>G (p.Pro296Ala) single nucleotide variant Inborn genetic diseases [RCV002430212] Chr15:25371288 [GRCh38]
Chr15:25616435 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.855_857dup (p.Ile286_Val287insIle) duplication Angelman syndrome [RCV002510695] Chr15:25371316..25371317 [GRCh38]
Chr15:25616463..25616464 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1173AGA[1] (p.Glu392del) microsatellite Angelman syndrome [RCV003015067] Chr15:25370996..25370998 [GRCh38]
Chr15:25616143..25616145 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.301C>T (p.Pro101Ser) single nucleotide variant Angelman syndrome [RCV002731214] Chr15:25375525 [GRCh38]
Chr15:25620672 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.977C>G (p.Ser326Cys) single nucleotide variant Inborn genetic diseases [RCV002883972] Chr15:25371197 [GRCh38]
Chr15:25616344 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1959+14C>T single nucleotide variant Angelman syndrome [RCV002842763] Chr15:25356677 [GRCh38]
Chr15:25601824 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2343T>C (p.Ser781=) single nucleotide variant Angelman syndrome [RCV002880433] Chr15:25354364 [GRCh38]
Chr15:25599511 [GRCh37]
Chr15:15q11.2
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1 copy number loss not provided [RCV002511813] Chr15:22833525..28544662 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1 copy number loss not provided [RCV002511814] Chr15:23684645..28566612 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2295A>G (p.Gln765=) single nucleotide variant Angelman syndrome [RCV002727004] Chr15:25354412 [GRCh38]
Chr15:25599559 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1906A>G (p.Arg636Gly) single nucleotide variant not provided [RCV002462763] Chr15:25356744 [GRCh38]
Chr15:25601891 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3 copy number gain not provided [RCV002475533] Chr15:23620192..28545459 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3 copy number gain not provided [RCV002475662] Chr15:23632678..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.1255G>A (p.Gly419Ser) single nucleotide variant Angelman syndrome [RCV002996858] Chr15:25370919 [GRCh38]
Chr15:25616066 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1497C>T (p.Tyr499=) single nucleotide variant Angelman syndrome [RCV003097585] Chr15:25370677 [GRCh38]
Chr15:25615824 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2055T>C (p.Phe685=) single nucleotide variant Angelman syndrome [RCV003021761] Chr15:25355961 [GRCh38]
Chr15:25601108 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2016C>T (p.Asp672=) single nucleotide variant Angelman syndrome [RCV002740371] Chr15:25356000 [GRCh38]
Chr15:25601147 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.4G>T (p.Ala2Ser) single nucleotide variant Inborn genetic diseases [RCV002707435] Chr15:25409104 [GRCh38]
Chr15:25654251 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.718T>C (p.Tyr240His) single nucleotide variant Angelman syndrome [RCV002824106] Chr15:25371456 [GRCh38]
Chr15:25616603 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1344T>A (p.Asn448Lys) single nucleotide variant Angelman syndrome [RCV002821043] Chr15:25370830 [GRCh38]
Chr15:25615977 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.402T>A (p.Leu134=) single nucleotide variant Angelman syndrome [RCV003055538] Chr15:25371772 [GRCh38]
Chr15:25616919 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.367A>C (p.Thr123Pro) single nucleotide variant Angelman syndrome [RCV003019855] Chr15:25371807 [GRCh38]
Chr15:25616954 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1359G>C (p.Glu453Asp) single nucleotide variant Angelman syndrome [RCV002975714] Chr15:25370815 [GRCh38]
Chr15:25615962 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1583A>G (p.His528Arg) single nucleotide variant Angelman syndrome [RCV002923448]|not provided [RCV003332392] Chr15:25370591 [GRCh38]
Chr15:25615738 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1383T>C (p.Tyr461=) single nucleotide variant Angelman syndrome [RCV003080337] Chr15:25370791 [GRCh38]
Chr15:25615938 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=) single nucleotide variant Angelman syndrome [RCV002926658]|not provided [RCV003395535] Chr15:25339170 [GRCh38]
Chr15:25584317 [GRCh37]
Chr15:15q11.2
likely benign|uncertain significance
NM_130839.5(UBE3A):c.2125-11G>A single nucleotide variant Angelman syndrome [RCV002760724] Chr15:25354694 [GRCh38]
Chr15:25599841 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2124+14T>C single nucleotide variant Angelman syndrome [RCV002592306] Chr15:25355878 [GRCh38]
Chr15:25601025 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1554A>C (p.Pro518=) single nucleotide variant Angelman syndrome [RCV002885316] Chr15:25370620 [GRCh38]
Chr15:25615767 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.63-4A>G single nucleotide variant Angelman syndrome [RCV002868009] Chr15:25375767 [GRCh38]
Chr15:25620914 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.62+14G>C single nucleotide variant Angelman syndrome [RCV002592312] Chr15:25405447 [GRCh38]
Chr15:25650594 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2280+14dup duplication Angelman syndrome [RCV002576230] Chr15:25354513..25354514 [GRCh38]
Chr15:25599660..25599661 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.772G>A (p.Val258Ile) single nucleotide variant Angelman syndrome [RCV002745677] Chr15:25371402 [GRCh38]
Chr15:25616549 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2354+7T>A single nucleotide variant Angelman syndrome [RCV002890017] Chr15:25354346 [GRCh38]
Chr15:25599493 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1059T>C (p.Phe353=) single nucleotide variant Angelman syndrome [RCV002595944] Chr15:25371115 [GRCh38]
Chr15:25616262 [GRCh37]
Chr15:15q11.2
likely benign
NC_000015.10:g.25375764del deletion Angelman syndrome [RCV002851452] Chr15:25375763 [GRCh38]
Chr15:25620910 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1914A>G (p.Leu638=) single nucleotide variant Angelman syndrome [RCV002595202] Chr15:25356736 [GRCh38]
Chr15:25601883 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.435T>C (p.Pro145=) single nucleotide variant Angelman syndrome [RCV003042800] Chr15:25371739 [GRCh38]
Chr15:25616886 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1527C>T (p.Ser509=) single nucleotide variant Angelman syndrome [RCV003057239] Chr15:25370647 [GRCh38]
Chr15:25615794 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.343G>T (p.Ala115Ser) single nucleotide variant Angelman syndrome [RCV003041522] Chr15:25375483 [GRCh38]
Chr15:25620630 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2301A>G (p.Leu767=) single nucleotide variant Angelman syndrome [RCV002790454] Chr15:25354406 [GRCh38]
Chr15:25599553 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.274G>C (p.Ala92Pro) single nucleotide variant Angelman syndrome [RCV003022568] Chr15:25375552 [GRCh38]
Chr15:25620699 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2555A>G (p.Lys852Arg) single nucleotide variant Inborn genetic diseases [RCV002767537]|not provided [RCV003235776] Chr15:25339201 [GRCh38]
Chr15:25584348 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.361+14T>C single nucleotide variant Angelman syndrome [RCV003025036] Chr15:25375451 [GRCh38]
Chr15:25620598 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.603A>G (p.Glu201=) single nucleotide variant Angelman syndrome [RCV003023870] Chr15:25371571 [GRCh38]
Chr15:25616718 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.362-13T>C single nucleotide variant Angelman syndrome [RCV002872480] Chr15:25371825 [GRCh38]
Chr15:25616972 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2125-4A>G single nucleotide variant Angelman syndrome [RCV002872512] Chr15:25354687 [GRCh38]
Chr15:25599834 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.339A>G (p.Lys113=) single nucleotide variant Angelman syndrome [RCV003025168] Chr15:25375487 [GRCh38]
Chr15:25620634 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.494G>A (p.Arg165Gln) single nucleotide variant Angelman syndrome [RCV003081854] Chr15:25371680 [GRCh38]
Chr15:25616827 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.656_657insTTGA (p.Asn219_Asn220insTer) insertion Angelman syndrome [RCV003005988] Chr15:25371517..25371518 [GRCh38]
Chr15:25616664..25616665 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.488dup (p.Ser163fs) duplication Angelman syndrome [RCV002810041] Chr15:25371685..25371686 [GRCh38]
Chr15:25616832..25616833 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.43G>A (p.Asp15Asn) single nucleotide variant Inborn genetic diseases [RCV002965101] Chr15:25405480 [GRCh38]
Chr15:25650627 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1608+3A>T single nucleotide variant Angelman syndrome [RCV002856980] Chr15:25370563 [GRCh38]
Chr15:25615710 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2352T>C (p.Ile784=) single nucleotide variant Angelman syndrome [RCV002648008] Chr15:25354355 [GRCh38]
Chr15:25599502 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.232A>G (p.Lys78Glu) single nucleotide variant Angelman syndrome [RCV002577385] Chr15:25375594 [GRCh38]
Chr15:25620741 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.827G>A (p.Arg276Gln) single nucleotide variant Angelman syndrome [RCV002578125] Chr15:25371347 [GRCh38]
Chr15:25616494 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.70G>A (p.Ala24Thr) single nucleotide variant Angelman syndrome [RCV003044496] Chr15:25375756 [GRCh38]
Chr15:25620903 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2464A>T (p.Met822Leu) single nucleotide variant Angelman syndrome [RCV002579107] Chr15:25340119 [GRCh38]
Chr15:25585266 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2575T>C (p.Leu859=) single nucleotide variant Angelman syndrome [RCV003062445] Chr15:25339181 [GRCh38]
Chr15:25584328 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1184A>G (p.Glu395Gly) single nucleotide variant Angelman syndrome [RCV003060892] Chr15:25370990 [GRCh38]
Chr15:25616137 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2499-12T>C single nucleotide variant Angelman syndrome [RCV002934072] Chr15:25339269 [GRCh38]
Chr15:25584416 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1753+15A>G single nucleotide variant Angelman syndrome [RCV002835043] Chr15:25360368 [GRCh38]
Chr15:25605515 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2153T>G (p.Ile718Ser) single nucleotide variant Angelman syndrome [RCV003063101] Chr15:25354655 [GRCh38]
Chr15:25599802 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2183A>C (p.Lys728Thr) single nucleotide variant Angelman syndrome [RCV003010076] Chr15:25354625 [GRCh38]
Chr15:25599772 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1509A>G (p.Arg503=) single nucleotide variant Angelman syndrome [RCV002877570] Chr15:25370665 [GRCh38]
Chr15:25615812 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1992G>A (p.Glu664=) single nucleotide variant Angelman syndrome [RCV003046190] Chr15:25356024 [GRCh38]
Chr15:25601171 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1997A>C (p.Glu666Ala) single nucleotide variant Angelman syndrome [RCV002605545] Chr15:25356019 [GRCh38]
Chr15:25601166 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2391A>T (p.Glu797Asp) single nucleotide variant Angelman syndrome [RCV003070331] Chr15:25340192 [GRCh38]
Chr15:25585339 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.721A>G (p.Thr241Ala) single nucleotide variant Angelman syndrome [RCV003073214]|not provided [RCV003313304] Chr15:25371453 [GRCh38]
Chr15:25616600 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.159C>T (p.Ser53=) single nucleotide variant Angelman syndrome [RCV002607136] Chr15:25375667 [GRCh38]
Chr15:25620814 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.779T>A (p.Leu260Ter) single nucleotide variant Angelman syndrome [RCV003223601] Chr15:25371395 [GRCh38]
Chr15:25616542 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1421T>C (p.Phe474Ser) single nucleotide variant not provided [RCV003225426] Chr15:25370753 [GRCh38]
Chr15:25615900 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1321dup (p.Ile441fs) duplication Angelman syndrome [RCV003133066] Chr15:25370852..25370853 [GRCh38]
Chr15:25615999..25616000 [GRCh37]
Chr15:15q11.2
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1 copy number loss not provided [RCV003222838] Chr15:23406271..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2230_2231dup (p.Tyr745fs) duplication Angelman syndrome [RCV003224755] Chr15:25354576..25354577 [GRCh38]
Chr15:25599723..25599724 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.1458G>T (p.Lys486Asn) single nucleotide variant not provided [RCV003222812] Chr15:25370716 [GRCh38]
Chr15:25615863 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2278C>T (p.Arg760Trp) single nucleotide variant Angelman syndrome [RCV003139211] Chr15:25354530 [GRCh38]
Chr15:25599677 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.630G>T (p.Arg210Ser) single nucleotide variant Angelman syndrome [RCV003139212] Chr15:25371544 [GRCh38]
Chr15:25616691 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2344G>C (p.Val782Leu) single nucleotide variant Angelman syndrome [RCV003225813] Chr15:25354363 [GRCh38]
Chr15:25599510 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.242A>G (p.Asp81Gly) single nucleotide variant not provided [RCV003225368] Chr15:25375584 [GRCh38]
Chr15:25620731 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1850G>A (p.Gly617Asp) single nucleotide variant Angelman syndrome [RCV003225269] Chr15:25356800 [GRCh38]
Chr15:25601947 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398) copy number gain 15q11q13 microduplication syndrome [RCV003319585] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_130839.5(UBE3A):c.1187_1188insAG (p.Pro397fs) insertion not provided [RCV003325360] Chr15:25370986..25370987 [GRCh38]
Chr15:25616133..25616134 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2340C>G (p.Asp780Glu) single nucleotide variant not provided [RCV003329881] Chr15:25354367 [GRCh38]
Chr15:25599514 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1 copy number loss not provided [RCV003326926] Chr15:23605427..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1 copy number loss Angelman syndrome [RCV003327724] Chr15:20966971..25963714 [GRCh38]
Chr15:15q11.2-12
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4 copy number gain not provided [RCV003326925] Chr15:22742396..28567325 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.303dup (p.Asn102fs) duplication Angelman syndrome [RCV003340751] Chr15:25375522..25375523 [GRCh38]
Chr15:25620669..25620670 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.2308del (p.Thr770fs) deletion Angelman syndrome [RCV003334463] Chr15:25354399 [GRCh38]
Chr15:25599546 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.2527G>A (p.Val843Met) single nucleotide variant Inborn genetic diseases [RCV003374610] Chr15:25339229 [GRCh38]
Chr15:25584376 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1614_1624del (p.Glu538fs) deletion Angelman syndrome [RCV003333363] Chr15:25360512..25360522 [GRCh38]
Chr15:25605659..25605669 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.237_238del (p.Leu79_Cys80insTer) microsatellite Inborn genetic diseases [RCV003364801] Chr15:25375588..25375589 [GRCh38]
Chr15:25620735..25620736 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2591C>T (p.Thr864Met) single nucleotide variant Angelman syndrome [RCV003873208] Chr15:25339165 [GRCh38]
Chr15:25584312 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1791_1801delinsAAGATTCTTTTGAAA (p.Trp597_Ser601delinsTer) indel Angelman syndrome [RCV003445292] Chr15:25356849..25356859 [GRCh38]
Chr15:25601996..25602006 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.2204A>G (p.His735Arg) single nucleotide variant Angelman syndrome [RCV003873796] Chr15:25354604 [GRCh38]
Chr15:25599751 [GRCh37]
Chr15:15q11.2
uncertain significance
Single allele duplication not provided [RCV003448679] Chr15:22750407..32516333 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3 copy number gain not provided [RCV003485056] Chr15:22770422..36556562 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3 copy number gain not provided [RCV003485057] Chr15:22770422..32915593 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3 copy number gain not provided [RCV003485058] Chr15:22770422..29013164 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2532_2535dup (p.Leu846fs) duplication UBE3A-related condition [RCV003408426] Chr15:25339220..25339221 [GRCh38]
Chr15:25584367..25584368 [GRCh37]
Chr15:15q11.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1 copy number loss not provided [RCV003483220] Chr15:23615769..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_130839.5(UBE3A):c.2515_2518dup (p.Cys840fs) duplication UBE3A-related condition [RCV003406233] Chr15:25339237..25339238 [GRCh38]
Chr15:25584384..25584385 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.2447G>A (p.Gly816Glu) single nucleotide variant UBE3A-related condition [RCV003404615] Chr15:25340136 [GRCh38]
Chr15:25585283 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1673G>A (p.Gly558Glu) single nucleotide variant not provided [RCV003442577] Chr15:25360463 [GRCh38]
Chr15:25605610 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.601G>A (p.Glu201Lys) single nucleotide variant UBE3A-related condition [RCV003408303] Chr15:25371573 [GRCh38]
Chr15:25616720 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1886A>C (p.His629Pro) single nucleotide variant UBE3A-related condition [RCV003412465] Chr15:25356764 [GRCh38]
Chr15:25601911 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1219C>T (p.Gln407Ter) single nucleotide variant not provided [RCV003441485] Chr15:25370955 [GRCh38]
Chr15:25616102 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.290C>A (p.Ser97Ter) single nucleotide variant UBE3A-related condition [RCV003406229] Chr15:25375536 [GRCh38]
Chr15:25620683 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_130839.5(UBE3A):c.1065T>C (p.Ser355=) single nucleotide variant not provided [RCV003393660] Chr15:25371109 [GRCh38]
Chr15:25616256 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.140C>T (p.Thr47Met) single nucleotide variant not provided [RCV003442696] Chr15:25375686 [GRCh38]
Chr15:25620833 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.645A>C (p.Ser215=) single nucleotide variant not provided [RCV003393661] Chr15:25371529 [GRCh38]
Chr15:25616676 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2547C>T (p.Tyr849=) single nucleotide variant Angelman syndrome [RCV003510194] Chr15:25339209 [GRCh38]
Chr15:25584356 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1154T>G (p.Val385Gly) single nucleotide variant Angelman syndrome [RCV003510233] Chr15:25371020 [GRCh38]
Chr15:25616167 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1439T>C (p.Ile480Thr) single nucleotide variant Angelman syndrome [RCV003510478] Chr15:25370735 [GRCh38]
Chr15:25615882 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2205T>C (p.His735=) single nucleotide variant Angelman syndrome [RCV003876993] Chr15:25354603 [GRCh38]
Chr15:25599750 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.362-11dup duplication Angelman syndrome [RCV003510775] Chr15:25371822..25371823 [GRCh38]
Chr15:25616969..25616970 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.1001G>A (p.Arg334Gln) single nucleotide variant Angelman syndrome [RCV003509951] Chr15:25371173 [GRCh38]
Chr15:25616320 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1401A>G (p.Glu467=) single nucleotide variant Angelman syndrome [RCV003824590] Chr15:25370773 [GRCh38]
Chr15:25615920 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.159C>G (p.Ser53=) single nucleotide variant Angelman syndrome [RCV003509981] Chr15:25375667 [GRCh38]
Chr15:25620814 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.954A>G (p.Gln318=) single nucleotide variant Angelman syndrome [RCV003510791] Chr15:25371220 [GRCh38]
Chr15:25616367 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.684T>C (p.Asp228=) single nucleotide variant Angelman syndrome [RCV003509885] Chr15:25371490 [GRCh38]
Chr15:25616637 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2168T>G (p.Val723Gly) single nucleotide variant Angelman syndrome [RCV003510928] Chr15:25354640 [GRCh38]
Chr15:25599787 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.362-10G>A single nucleotide variant Angelman syndrome [RCV003511007] Chr15:25371822 [GRCh38]
Chr15:25616969 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2470A>G (p.Ile824Val) single nucleotide variant Angelman syndrome [RCV003510462] Chr15:25340113 [GRCh38]
Chr15:25585260 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2521T>G (p.Phe841Val) single nucleotide variant Angelman syndrome [RCV003510119] Chr15:25339235 [GRCh38]
Chr15:25584382 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.963G>A (p.Leu321=) single nucleotide variant Angelman syndrome [RCV003510209] Chr15:25371211 [GRCh38]
Chr15:25616358 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.2124+3A>G single nucleotide variant Angelman syndrome [RCV003510828] Chr15:25355889 [GRCh38]
Chr15:25601036 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.704C>T (p.Ala235Val) single nucleotide variant Angelman syndrome [RCV003510122] Chr15:25371470 [GRCh38]
Chr15:25616617 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.625T>C (p.Ser209Pro) single nucleotide variant Angelman syndrome [RCV003509350] Chr15:25371549 [GRCh38]
Chr15:25616696 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1122G>A (p.Met374Ile) single nucleotide variant Angelman syndrome [RCV003509359] Chr15:25371052 [GRCh38]
Chr15:25616199 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.2388T>C (p.Asp796=) single nucleotide variant Angelman syndrome [RCV003509147] Chr15:25340195 [GRCh38]
Chr15:25585342 [GRCh37]
Chr15:15q11.2
likely benign
NM_130839.5(UBE3A):c.633A>G (p.Ile211Met) single nucleotide variant Angelman syndrome [RCV003510936] Chr15:25371541 [GRCh38]
Chr15:25616688 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.610T>C (p.Ser204Pro) single nucleotide variant Angelman syndrome [RCV003879326] Chr15:25371564 [GRCh38]
Chr15:25616711 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.1301T>G (p.Leu434Arg) single nucleotide variant Angelman syndrome [RCV003509411] Chr15:25370873 [GRCh38]
Chr15:25616020 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_130839.5(UBE3A):c.613_614del (p.Glu205fs) deletion Angelman syndrome [RCV003510753] Chr15:25371560..25371561 [GRCh38]
Chr15:25616707..25616708 [GRCh37]
Chr15:15q11.2
pathogenic
NM_130839.5(UBE3A):c.580G>T (p.Ala194Ser) single nucleotide variant Angelman syndrome [RCV003511177] Chr15:25371594 [GRCh38]
Chr15:25616741 [GRCh37]
Chr15:15q11.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1448
Count of miRNA genes:515
Interacting mature miRNAs:578
Transcripts:ENST00000232165, ENST00000397954, ENST00000428984, ENST00000438097, ENST00000566215, ENST00000604860
Prediction methods: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
D15S122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,680,044 - 25,680,198UniSTSGRCh37
GRCh371525,680,003 - 25,680,238UniSTSGRCh37
Build 361523,231,096 - 23,231,331RGDNCBI36
Celera153,841,813 - 3,842,044RGD
Celera153,841,854 - 3,842,004UniSTS
Cytogenetic Map15q11.2UniSTS
HuRef153,804,521 - 3,804,748UniSTS
HuRef153,804,562 - 3,804,708UniSTS
Marshfield Genetic Map156.11UniSTS
Marshfield Genetic Map156.11RGD
Genethon Genetic Map156.3UniSTS
TNG Radiation Hybrid Map151908.0UniSTS
Stanford-G3 RH Map15117.0UniSTS
GeneMap99-GB4 RH Map1535.37UniSTS
Whitehead-RH Map1519.7UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map1515.1UniSTS
GeneMap99-G3 RH Map15117.0UniSTS
RH45096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,582,416 - 25,582,611UniSTSGRCh37
Build 361523,133,509 - 23,133,704RGDNCBI36
Celera153,744,435 - 3,744,630RGD
Cytogenetic Map15q11.2UniSTS
HuRef153,706,915 - 3,707,110UniSTS
GeneMap99-GB4 RH Map1533.25UniSTS
NCBI RH Map1515.1UniSTS
RH79621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,627,272 - 25,627,435UniSTSGRCh37
Build 361523,178,365 - 23,178,528RGDNCBI36
Celera153,789,301 - 3,789,464RGD
Cytogenetic Map15q11.2UniSTS
HuRef153,751,782 - 3,751,945UniSTS
RH102417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,614,784 - 25,614,908UniSTSGRCh37
Build 361523,165,877 - 23,166,001RGDNCBI36
Celera153,776,813 - 3,776,937RGD
Cytogenetic Map15q11.2UniSTS
HuRef153,739,294 - 3,739,418UniSTS
GeneMap99-GB4 RH Map1535.47UniSTS
D15S10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,684,914 - 25,685,093UniSTSGRCh37
Build 361523,236,007 - 23,236,186RGDNCBI36
Celera153,846,718 - 3,846,897RGD
Cytogenetic Map15q11.2UniSTS
HuRef153,809,423 - 3,809,602UniSTS
D15S698E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,583,911 - 25,584,156UniSTSGRCh37
Build 361523,135,004 - 23,135,249RGDNCBI36
Celera153,745,930 - 3,746,175RGD
Cytogenetic Map15q11.2UniSTS
HuRef153,708,410 - 3,708,655UniSTS
D15S701E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,636,836 - 25,637,070UniSTSGRCh37
Build 361523,187,929 - 23,188,163RGDNCBI36
Celera153,798,866 - 3,799,100RGD
Cytogenetic Map15q11.2UniSTS
HuRef153,761,347 - 3,761,581UniSTS
D15S837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,582,975 - 25,583,129UniSTSGRCh37
Build 361523,134,068 - 23,134,222RGDNCBI36
Celera153,744,994 - 3,745,148RGD
Cytogenetic Map15q11.2UniSTS
HuRef153,707,474 - 3,707,628UniSTS
GeneMap99-GB4 RH Map1527.35UniSTS
Whitehead-RH Map1517.1UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map1510.0UniSTS
WI-11918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,582,975 - 25,583,083UniSTSGRCh37
Build 361523,134,068 - 23,134,176RGDNCBI36
Celera153,744,994 - 3,745,102RGD
Cytogenetic Map15q11.2UniSTS
HuRef153,707,474 - 3,707,582UniSTS
GeneMap99-GB4 RH Map1531.19UniSTS
Whitehead-RH Map1519.7UniSTS
G67875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,599,517 - 25,599,726UniSTSGRCh37
GRCh372132,433,196 - 32,433,304UniSTSGRCh37
Build 361523,150,610 - 23,150,819RGDNCBI36
Celera153,761,535 - 3,761,744RGD
Celera2117,616,166 - 17,616,274UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map15q11.2UniSTS
HuRef153,724,033 - 3,724,242UniSTS
HuRef2117,843,148 - 17,843,256UniSTS
UBE3A_1455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,582,228 - 25,583,019UniSTSGRCh37
Build 361523,133,321 - 23,134,112RGDNCBI36
Celera153,744,247 - 3,745,038RGD
HuRef153,706,727 - 3,707,518UniSTS
SHGC-52105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372132,433,037 - 32,433,217UniSTSGRCh37
Build 362131,354,908 - 31,355,088RGDNCBI36
Celera2117,616,007 - 17,616,187RGD
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map21q21.3UniSTS
HuRef2117,842,989 - 17,843,169UniSTS
TNG Radiation Hybrid Map219360.0UniSTS
RH11332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,619,216 - 25,619,340UniSTSGRCh37
Build 361523,170,309 - 23,170,433RGDNCBI36
Celera153,781,245 - 3,781,369RGD
Cytogenetic Map15q11.2UniSTS
HuRef153,743,726 - 3,743,850UniSTS
GeneMap99-GB4 RH Map1524.48UniSTS
WI-13724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,620,476 - 25,620,600UniSTSGRCh37
Build 361523,171,569 - 23,171,693RGDNCBI36
Celera153,782,505 - 3,782,629RGD
Cytogenetic Map15q11.2UniSTS
HuRef153,744,986 - 3,745,110UniSTS
GeneMap99-GB4 RH Map1535.37UniSTS
Whitehead-RH Map1513.7UniSTS
RH78150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,620,620 - 25,620,737UniSTSGRCh37
Build 361523,171,713 - 23,171,830RGDNCBI36
Celera153,782,649 - 3,782,766RGD
Cytogenetic Map15q11.2UniSTS
HuRef153,745,130 - 3,745,247UniSTS
GeneMap99-GB4 RH Map1531.19UniSTS
NCBI RH Map1515.1UniSTS
D21S1734E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q11.2UniSTS
D21S1716E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q11.2UniSTS
RH17601  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q11.2UniSTS
GeneMap99-GB4 RH Map21150.35UniSTS
NCBI RH Map21205.0UniSTS
Ube3a  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,584,282 - 25,585,375UniSTSGRCh37
Celera153,746,301 - 3,747,394UniSTS
HuRef153,708,781 - 3,709,874UniSTS
Ube3a  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371525,601,052 - 25,602,002UniSTSGRCh37
Celera153,763,070 - 3,764,020UniSTS
HuRef153,725,568 - 3,726,518UniSTS
D15S122  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q11.2UniSTS
TNG Radiation Hybrid Map151908.0UniSTS
Stanford-G3 RH Map15117.0UniSTS
GeneMap99-GB4 RH Map1535.37UniSTS
NCBI RH Map1515.1UniSTS
GeneMap99-G3 RH Map15117.0UniSTS


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 1718 1481 1219 315 920 210 3986 1715 1921 323 1375 1424 121 1 902 2631 6 2
Low 721 1419 507 309 943 255 371 479 1813 96 85 189 54 302 157
Below cutoff 91 88 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
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GenBank Nucleotide AA745240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
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RefSeq Acc Id: ENST00000428984   ⟹   ENSP00000401265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,339,106 - 25,438,524 (-)Ensembl
RefSeq Acc Id: ENST00000438097   ⟹   ENSP00000411258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,333,728 - 25,439,008 (-)Ensembl
RefSeq Acc Id: ENST00000566215   ⟹   ENSP00000457771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,339,106 - 25,438,541 (-)Ensembl
RefSeq Acc Id: ENST00000604860   ⟹   ENSP00000473822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,339,136 - 25,356,765 (-)Ensembl
RefSeq Acc Id: ENST00000625681   ⟹   ENSP00000486601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,405,480 - 25,438,999 (-)Ensembl
RefSeq Acc Id: ENST00000625778   ⟹   ENSP00000487217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,352,282 - 25,439,051 (-)Ensembl
RefSeq Acc Id: ENST00000626068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,371,483 - 25,405,603 (-)Ensembl
RefSeq Acc Id: ENST00000626176   ⟹   ENSP00000487178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,339,122 - 25,355,982 (-)Ensembl
RefSeq Acc Id: ENST00000626589   ⟹   ENSP00000486066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,405,499 - 25,420,733 (-)Ensembl
RefSeq Acc Id: ENST00000626793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,371,492 - 25,438,571 (-)Ensembl
RefSeq Acc Id: ENST00000627018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,411,908 - 25,438,329 (-)Ensembl
RefSeq Acc Id: ENST00000628267   ⟹   ENSP00000487552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,375,617 - 25,439,014 (-)Ensembl
RefSeq Acc Id: ENST00000628733   ⟹   ENSP00000486388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,371,613 - 25,438,526 (-)Ensembl
RefSeq Acc Id: ENST00000628890   ⟹   ENSP00000485732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,375,707 - 25,409,412 (-)Ensembl
RefSeq Acc Id: ENST00000629252   ⟹   ENSP00000486900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,375,619 - 25,438,968 (-)Ensembl
RefSeq Acc Id: ENST00000629886   ⟹   ENSP00000487148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,375,593 - 25,438,329 (-)Ensembl
RefSeq Acc Id: ENST00000630424   ⟹   ENSP00000486349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,337,247 - 25,438,694 (-)Ensembl
RefSeq Acc Id: ENST00000630607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,375,580 - 25,408,713 (-)Ensembl
RefSeq Acc Id: ENST00000630907   ⟹   ENSP00000485958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,371,729 - 25,438,332 (-)Ensembl
RefSeq Acc Id: ENST00000631247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,354,407 - 25,357,575 (-)Ensembl
RefSeq Acc Id: ENST00000635914   ⟹   ENSP00000490563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,333,728 - 25,439,005 (-)Ensembl
RefSeq Acc Id: ENST00000636667   ⟹   ENSP00000489625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,333,728 - 25,346,031 (-)Ensembl
RefSeq Acc Id: ENST00000637886   ⟹   ENSP00000490258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,333,728 - 25,438,985 (-)Ensembl
RefSeq Acc Id: ENST00000638011   ⟹   ENSP00000490111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,333,728 - 25,438,925 (-)Ensembl
RefSeq Acc Id: ENST00000638155   ⟹   ENSP00000490557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,333,728 - 25,438,986 (-)Ensembl
RefSeq Acc Id: ENST00000648336   ⟹   ENSP00000497572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,333,728 - 25,439,024 (-)Ensembl
RefSeq Acc Id: ENST00000649550   ⟹   ENSP00000497549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,337,247 - 25,439,024 (-)Ensembl
RefSeq Acc Id: ENST00000650110   ⟹   ENSP00000497594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,337,247 - 25,439,024 (-)Ensembl
RefSeq Acc Id: ENST00000675000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,369,478 - 25,438,999 (-)Ensembl
RefSeq Acc Id: ENST00000675038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,373,889 - 25,438,994 (-)Ensembl
RefSeq Acc Id: ENST00000675177   ⟹   ENSP00000502703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,339,137 - 25,438,529 (-)Ensembl
RefSeq Acc Id: ENST00000675593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,340,083 - 25,438,999 (-)Ensembl
RefSeq Acc Id: ENST00000676452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,411,908 - 25,427,601 (-)Ensembl
RefSeq Acc Id: NM_000462   ⟹   NP_000453
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,337,234 - 25,439,056 (-)NCBI
GRCh371525,582,394 - 25,684,190 (-)NCBI
Build 361523,133,489 - 23,204,888 (-)NCBI Archive
HuRef153,706,895 - 3,808,683 (-)ENTREZGENE
CHM1_11525,531,939 - 25,633,637 (-)NCBI
T2T-CHM13v2.01523,073,882 - 23,175,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354505   ⟹   NP_001341434
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,337,234 - 25,438,229 (-)NCBI
T2T-CHM13v2.01523,073,882 - 23,174,855 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354506   ⟹   NP_001341435
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354507   ⟹   NP_001341436
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354508   ⟹   NP_001341437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354509   ⟹   NP_001341438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354511   ⟹   NP_001341440
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354512   ⟹   NP_001341441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354513   ⟹   NP_001341442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354523   ⟹   NP_001341452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354526   ⟹   NP_001341455
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,337,234 - 25,438,229 (-)NCBI
T2T-CHM13v2.01523,073,882 - 23,174,855 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354538   ⟹   NP_001341467
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354539   ⟹   NP_001341468
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354540   ⟹   NP_001341469
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354541   ⟹   NP_001341470
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354542   ⟹   NP_001341471
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354543   ⟹   NP_001341472
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354544   ⟹   NP_001341473
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354545   ⟹   NP_001341474
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354546   ⟹   NP_001341475
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354547   ⟹   NP_001341476
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354548   ⟹   NP_001341477
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354549   ⟹   NP_001341478
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354550   ⟹   NP_001341479
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354551   ⟹   NP_001341480
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374461   ⟹   NP_001361390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,337,228 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,073,876 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_130838   ⟹   NP_570853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
GRCh371525,582,394 - 25,684,190 (-)NCBI
Build 361523,133,489 - 23,201,746 (-)NCBI Archive
HuRef153,706,895 - 3,808,683 (-)ENTREZGENE
CHM1_11525,531,939 - 25,600,198 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NM_130839   ⟹   NP_570854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
GRCh371525,582,394 - 25,684,190 (-)NCBI
Build 361523,133,489 - 23,235,221 (-)NCBI Archive
HuRef153,706,895 - 3,808,683 (-)ENTREZGENE
CHM1_11525,531,939 - 25,633,637 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148916
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,024 (-)NCBI
T2T-CHM13v2.01523,070,379 - 23,175,650 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521995   ⟹   XP_011520297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,438,324 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022547   ⟹   XP_016878036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,056 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022548   ⟹   XP_016878037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,056 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022550   ⟹   XP_016878039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,427,601 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450043   ⟹   XP_024305811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,420,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047433007   ⟹   XP_047288963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,420,752 (-)NCBI
RefSeq Acc Id: XM_047433008   ⟹   XP_047288964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,439,056 (-)NCBI
RefSeq Acc Id: XM_047433009   ⟹   XP_047288965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,427,601 (-)NCBI
RefSeq Acc Id: XM_047433010   ⟹   XP_047288966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,421,961 (-)NCBI
RefSeq Acc Id: XM_047433011   ⟹   XP_047288967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,420,752 (-)NCBI
RefSeq Acc Id: XM_047433012   ⟹   XP_047288968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,421,961 (-)NCBI
RefSeq Acc Id: XM_047433013   ⟹   XP_047288969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,420,752 (-)NCBI
RefSeq Acc Id: XM_047433014   ⟹   XP_047288970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,421,961 (-)NCBI
RefSeq Acc Id: XM_047433015   ⟹   XP_047288971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,438,209 (-)NCBI
RefSeq Acc Id: XM_047433016   ⟹   XP_047288972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,420,752 (-)NCBI
RefSeq Acc Id: XM_047433017   ⟹   XP_047288973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,420,752 (-)NCBI
RefSeq Acc Id: XM_047433018   ⟹   XP_047288974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,420,752 (-)NCBI
RefSeq Acc Id: XM_047433019   ⟹   XP_047288975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,421,961 (-)NCBI
RefSeq Acc Id: XM_047433020   ⟹   XP_047288976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,420,752 (-)NCBI
RefSeq Acc Id: XM_047433021   ⟹   XP_047288977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,333,728 - 25,421,961 (-)NCBI
RefSeq Acc Id: XM_054378745   ⟹   XP_054234720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,157,350 (-)NCBI
RefSeq Acc Id: XM_054378746   ⟹   XP_054234721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,157,350 (-)NCBI
RefSeq Acc Id: XM_054378747   ⟹   XP_054234722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,174,950 (-)NCBI
RefSeq Acc Id: XM_054378748   ⟹   XP_054234723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,158,559 (-)NCBI
RefSeq Acc Id: XM_054378749   ⟹   XP_054234724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,175,682 (-)NCBI
RefSeq Acc Id: XM_054378750   ⟹   XP_054234725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,158,559 (-)NCBI
RefSeq Acc Id: XM_054378751   ⟹   XP_054234726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,175,682 (-)NCBI
RefSeq Acc Id: XM_054378752   ⟹   XP_054234727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,157,350 (-)NCBI
RefSeq Acc Id: XM_054378753   ⟹   XP_054234728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,158,559 (-)NCBI
RefSeq Acc Id: XM_054378754   ⟹   XP_054234729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,175,682 (-)NCBI
RefSeq Acc Id: XM_054378755   ⟹   XP_054234730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,157,350 (-)NCBI
RefSeq Acc Id: XM_054378756   ⟹   XP_054234731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,158,559 (-)NCBI
RefSeq Acc Id: XM_054378757   ⟹   XP_054234732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,174,835 (-)NCBI
RefSeq Acc Id: XM_054378758   ⟹   XP_054234733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,166,139 (-)NCBI
RefSeq Acc Id: XM_054378759   ⟹   XP_054234734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,157,350 (-)NCBI
RefSeq Acc Id: XM_054378760   ⟹   XP_054234735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,157,350 (-)NCBI
RefSeq Acc Id: XM_054378761   ⟹   XP_054234736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,157,350 (-)NCBI
RefSeq Acc Id: XM_054378762   ⟹   XP_054234737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,158,559 (-)NCBI
RefSeq Acc Id: XM_054378763   ⟹   XP_054234738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,157,350 (-)NCBI
RefSeq Acc Id: XM_054378764   ⟹   XP_054234739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01523,070,379 - 23,158,559 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000453 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341434 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341435 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341436 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341437 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341438 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341440 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341441 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341442 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341452 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341455 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341467 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341468 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341469 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341470 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341471 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341472 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341473 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341474 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341475 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341476 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341477 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341478 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341479 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341480 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361390 (Get FASTA)   NCBI Sequence Viewer  
  NP_570853 (Get FASTA)   NCBI Sequence Viewer  
  NP_570854 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520297 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878036 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878037 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878039 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305811 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288963 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288964 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288965 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288966 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288967 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288968 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288969 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288970 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288971 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288972 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288973 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288974 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288975 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288976 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288977 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234720 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234721 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234722 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234723 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234724 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234725 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234726 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234727 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234728 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234729 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234730 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234731 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234732 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234733 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234734 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234735 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234736 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234737 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234738 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234739 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35542 (Get FASTA)   NCBI Sequence Viewer  
  AAB49301 (Get FASTA)   NCBI Sequence Viewer  
  AAB69154 (Get FASTA)   NCBI Sequence Viewer  
  AAC39580 (Get FASTA)   NCBI Sequence Viewer  
  AAG34910 (Get FASTA)   NCBI Sequence Viewer  
  AAH02582 (Get FASTA)   NCBI Sequence Viewer  
  AAH09271 (Get FASTA)   NCBI Sequence Viewer  
  BAD69553 (Get FASTA)   NCBI Sequence Viewer  
  BAD69554 (Get FASTA)   NCBI Sequence Viewer  
  BAF84094 (Get FASTA)   NCBI Sequence Viewer  
  BAF85203 (Get FASTA)   NCBI Sequence Viewer  
  CAA04534 (Get FASTA)   NCBI Sequence Viewer  
  CAA04535 (Get FASTA)   NCBI Sequence Viewer  
  CAA04536 (Get FASTA)   NCBI Sequence Viewer  
  CAA04537 (Get FASTA)   NCBI Sequence Viewer  
  CAA04538 (Get FASTA)   NCBI Sequence Viewer  
  CAA04539 (Get FASTA)   NCBI Sequence Viewer  
  CAA04540 (Get FASTA)   NCBI Sequence Viewer  
  CAA66653 (Get FASTA)   NCBI Sequence Viewer  
  CAA66654 (Get FASTA)   NCBI Sequence Viewer  
  CAA66655 (Get FASTA)   NCBI Sequence Viewer  
  CAA66656 (Get FASTA)   NCBI Sequence Viewer  
  EAW57642 (Get FASTA)   NCBI Sequence Viewer  
  EAW57643 (Get FASTA)   NCBI Sequence Viewer  
  EAW57644 (Get FASTA)   NCBI Sequence Viewer  
  EAW57645 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000401265
  ENSP00000401265.2
  ENSP00000411258
  ENSP00000411258.1
  ENSP00000457771
  ENSP00000457771.1
  ENSP00000473822.2
  ENSP00000485732.1
  ENSP00000485958.1
  ENSP00000486066.1
  ENSP00000486349
  ENSP00000486349.1
  ENSP00000486388.1
  ENSP00000486601.1
  ENSP00000486900.1
  ENSP00000487148.1
  ENSP00000487178.1
  ENSP00000487217.1
  ENSP00000487552.1
  ENSP00000489625.1
  ENSP00000490111
  ENSP00000490111.1
  ENSP00000490258
  ENSP00000490258.1
  ENSP00000490557
  ENSP00000490557.1
  ENSP00000490563.1
  ENSP00000497549
  ENSP00000497549.1
  ENSP00000497572
  ENSP00000497572.2
  ENSP00000497594
  ENSP00000497594.1
  ENSP00000502703
  ENSP00000502703.1
GenBank Protein Q05086 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_570854   ⟸   NM_130839
- Peptide Label: isoform 3
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000453   ⟸   NM_000462
- Peptide Label: isoform 2
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_570853   ⟸   NM_130838
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520297   ⟸   XM_011521995
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878037   ⟸   XM_017022548
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878036   ⟸   XM_017022547
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878039   ⟸   XM_017022550
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341475   ⟸   NM_001354546
- Peptide Label: isoform 5
- UniProtKB: A0A6Q8PHE5 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341480   ⟸   NM_001354551
- Peptide Label: isoform 9
- Sequence:
RefSeq Acc Id: NP_001341478   ⟸   NM_001354549
- Peptide Label: isoform 7
- UniProtKB: Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341477   ⟸   NM_001354548
- Peptide Label: isoform 6
- UniProtKB: Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341471   ⟸   NM_001354542
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341479   ⟸   NM_001354550
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: NP_001341474   ⟸   NM_001354545
- Peptide Label: isoform 4
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341452   ⟸   NM_001354523
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341468   ⟸   NM_001354539
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341440   ⟸   NM_001354511
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341441   ⟸   NM_001354512
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341442   ⟸   NM_001354513
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341476   ⟸   NM_001354547
- Peptide Label: isoform 6
- UniProtKB: Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341437   ⟸   NM_001354508
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341435   ⟸   NM_001354506
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341473   ⟸   NM_001354544
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341470   ⟸   NM_001354541
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341438   ⟸   NM_001354509
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341469   ⟸   NM_001354540
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341472   ⟸   NM_001354543
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341467   ⟸   NM_001354538
- Peptide Label: isoform 3
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341436   ⟸   NM_001354507
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341434   ⟸   NM_001354505
- Peptide Label: isoform 3
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341455   ⟸   NM_001354526
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305811   ⟸   XM_024450043
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001361390   ⟸   NM_001374461
- Peptide Label: isoform 1
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000497572   ⟸   ENST00000648336
RefSeq Acc Id: ENSP00000411258   ⟸   ENST00000438097
RefSeq Acc Id: ENSP00000497549   ⟸   ENST00000649550
RefSeq Acc Id: ENSP00000490563   ⟸   ENST00000635914
RefSeq Acc Id: ENSP00000489625   ⟸   ENST00000636667
RefSeq Acc Id: ENSP00000490258   ⟸   ENST00000637886
RefSeq Acc Id: ENSP00000490557   ⟸   ENST00000638155
RefSeq Acc Id: ENSP00000490111   ⟸   ENST00000638011
RefSeq Acc Id: ENSP00000401265   ⟸   ENST00000428984
RefSeq Acc Id: ENSP00000497594   ⟸   ENST00000650110
RefSeq Acc Id: ENSP00000487217   ⟸   ENST00000625778
RefSeq Acc Id: ENSP00000486601   ⟸   ENST00000625681
RefSeq Acc Id: ENSP00000486066   ⟸   ENST00000626589
RefSeq Acc Id: ENSP00000487178   ⟸   ENST00000626176
RefSeq Acc Id: ENSP00000487552   ⟸   ENST00000628267
RefSeq Acc Id: ENSP00000485732   ⟸   ENST00000628890
RefSeq Acc Id: ENSP00000486388   ⟸   ENST00000628733
RefSeq Acc Id: ENSP00000486900   ⟸   ENST00000629252
RefSeq Acc Id: ENSP00000487148   ⟸   ENST00000629886
RefSeq Acc Id: ENSP00000473822   ⟸   ENST00000604860
RefSeq Acc Id: ENSP00000486349   ⟸   ENST00000630424
RefSeq Acc Id: ENSP00000485958   ⟸   ENST00000630907
RefSeq Acc Id: ENSP00000457771   ⟸   ENST00000566215
RefSeq Acc Id: ENSP00000502703   ⟸   ENST00000675177
RefSeq Acc Id: XP_047288964   ⟸   XM_047433008
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288971   ⟸   XM_047433015
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288965   ⟸   XM_047433009
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288975   ⟸   XM_047433019
- Peptide Label: isoform X3
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288977   ⟸   XM_047433021
- Peptide Label: isoform X5
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288966   ⟸   XM_047433010
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288970   ⟸   XM_047433014
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288968   ⟸   XM_047433012
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288969   ⟸   XM_047433013
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288974   ⟸   XM_047433018
- Peptide Label: isoform X3
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288967   ⟸   XM_047433011
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288973   ⟸   XM_047433017
- Peptide Label: isoform X3
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288976   ⟸   XM_047433020
- Peptide Label: isoform X4
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288963   ⟸   XM_047433007
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288972   ⟸   XM_047433016
- Peptide Label: isoform X3
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234729   ⟸   XM_054378754
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234726   ⟸   XM_054378751
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234724   ⟸   XM_054378749
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234722   ⟸   XM_054378747
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234732   ⟸   XM_054378757
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234733   ⟸   XM_054378758
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234737   ⟸   XM_054378762
- Peptide Label: isoform X3
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234739   ⟸   XM_054378764
- Peptide Label: isoform X5
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234725   ⟸   XM_054378750
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234731   ⟸   XM_054378756
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234728   ⟸   XM_054378753
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234723   ⟸   XM_054378748
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234730   ⟸   XM_054378755
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234721   ⟸   XM_054378746
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234736   ⟸   XM_054378761
- Peptide Label: isoform X3
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234727   ⟸   XM_054378752
- Peptide Label: isoform X2
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234735   ⟸   XM_054378760
- Peptide Label: isoform X3
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234738   ⟸   XM_054378763
- Peptide Label: isoform X4
- UniProtKB: Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234720   ⟸   XM_054378745
- Peptide Label: isoform X1
- UniProtKB: Q9UEP8 (UniProtKB/Swiss-Prot),   Q9UEP7 (UniProtKB/Swiss-Prot),   Q9UEP6 (UniProtKB/Swiss-Prot),   Q9UEP5 (UniProtKB/Swiss-Prot),   Q9UEP4 (UniProtKB/Swiss-Prot),   Q93066 (UniProtKB/Swiss-Prot),   Q05086 (UniProtKB/Swiss-Prot),   P78355 (UniProtKB/Swiss-Prot),   A8K8Z9 (UniProtKB/Swiss-Prot),   Q9UEP9 (UniProtKB/Swiss-Prot),   Q9BUI6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234734   ⟸   XM_054378759
- Peptide Label: isoform X3
- UniProtKB: Q9H2G0 (UniProtKB/TrEMBL),   Q5W7F7 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q05086-F1-model_v2 AlphaFold Q05086 1-875 view protein structure

Promoters
RGD ID:6792241
Promoter ID:HG_KWN:20718
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000356465,   NM_130839,   UC001ZAT.1,   UC001ZAU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361523,235,086 - 23,235,586 (-)MPROMDB
RGD ID:7228861
Promoter ID:EPDNEW_H20175
Type:initiation region
Name:UBE3A_2
Description:ubiquitin protein ligase E3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20176  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,438,521 - 25,438,581EPDNEW
RGD ID:7228859
Promoter ID:EPDNEW_H20176
Type:initiation region
Name:UBE3A_1
Description:ubiquitin protein ligase E3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20175  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,438,988 - 25,439,048EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12496 AgrOrtholog
COSMIC UBE3A COSMIC
Ensembl Genes ENSG00000114062 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000428984 ENTREZGENE
  ENST00000428984.6 UniProtKB/Swiss-Prot
  ENST00000438097 ENTREZGENE
  ENST00000438097.6 UniProtKB/Swiss-Prot
  ENST00000566215 ENTREZGENE
  ENST00000566215.5 UniProtKB/Swiss-Prot
  ENST00000604860.3 UniProtKB/TrEMBL
  ENST00000625681.2 UniProtKB/TrEMBL
  ENST00000625778.3 UniProtKB/TrEMBL
  ENST00000626176.2 UniProtKB/TrEMBL
  ENST00000626589.2 UniProtKB/TrEMBL
  ENST00000628267.2 UniProtKB/TrEMBL
  ENST00000628733.2 UniProtKB/TrEMBL
  ENST00000628890.1 UniProtKB/TrEMBL
  ENST00000629252.2 UniProtKB/TrEMBL
  ENST00000629886.2 UniProtKB/TrEMBL
  ENST00000630424 ENTREZGENE
  ENST00000630424.2 UniProtKB/Swiss-Prot
  ENST00000630907.2 UniProtKB/TrEMBL
  ENST00000635914.1 UniProtKB/TrEMBL
  ENST00000636667.1 UniProtKB/TrEMBL
  ENST00000637886 ENTREZGENE
  ENST00000637886.1 UniProtKB/Swiss-Prot
  ENST00000638011 ENTREZGENE
  ENST00000638011.1 UniProtKB/Swiss-Prot
  ENST00000638155 ENTREZGENE
  ENST00000638155.1 UniProtKB/Swiss-Prot
  ENST00000648336 ENTREZGENE
  ENST00000648336.2 UniProtKB/Swiss-Prot
  ENST00000649550 ENTREZGENE
  ENST00000649550.1 UniProtKB/Swiss-Prot
  ENST00000650110 ENTREZGENE
  ENST00000650110.1 UniProtKB/Swiss-Prot
  ENST00000675177 ENTREZGENE
  ENST00000675177.1 UniProtKB/TrEMBL
Gene3D-CATH 6.10.130.10 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 ENSG00000114062 GTEx
HGNC ID HGNC:12496 ENTREZGENE
Human Proteome Map UBE3A Human Proteome Map
InterPro AZUL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AZUL_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E3A/B/C-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HECT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hect_E3_ubiquitin_ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBE3A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7337 UniProtKB/Swiss-Prot
NCBI Gene 7337 ENTREZGENE
OMIM 601623 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE HUWE1 UniProtKB/TrEMBL
  HECT DOMAIN UBIQUITIN-PROTEIN LIGASE UniProtKB/TrEMBL
  LIGASE, PUTATIVE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN-PROTEIN LIGASE E3A UniProtKB/TrEMBL
  UBIQUITIN-PROTEIN LIGASE E3A-RELATED UniProtKB/TrEMBL
  UBIQUITIN-PROTEIN LIGASE E3C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AZUL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37144 PharmGKB
PIRSF Ubiquitin-protein_ligase_E6-AP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HECTc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56204 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0D9SEJ2_HUMAN UniProtKB/TrEMBL
  A0A0D9SES7_HUMAN UniProtKB/TrEMBL
  A0A0D9SF91_HUMAN UniProtKB/TrEMBL
  A0A0D9SFH3_HUMAN UniProtKB/TrEMBL
  A0A0D9SFU3_HUMAN UniProtKB/TrEMBL
  A0A0D9SG54_HUMAN UniProtKB/TrEMBL
  A0A0D9SG63_HUMAN UniProtKB/TrEMBL
  A0A0D9SG77_HUMAN UniProtKB/TrEMBL
  A0A0G2JQQ5_HUMAN UniProtKB/TrEMBL
  A0A1B0GTB3_HUMAN UniProtKB/TrEMBL
  A0A1B0GVL3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHE5 ENTREZGENE, UniProtKB/TrEMBL
  A8K8Z9 ENTREZGENE
  P78355 ENTREZGENE
  Q05086 ENTREZGENE
  Q5W7F7 ENTREZGENE, UniProtKB/TrEMBL
  Q93066 ENTREZGENE
  Q96GR7_HUMAN UniProtKB/TrEMBL
  Q9BUI6 ENTREZGENE, UniProtKB/TrEMBL
  Q9H2G0 ENTREZGENE, UniProtKB/TrEMBL
  Q9UBN9_HUMAN UniProtKB/TrEMBL
  Q9UEP4 ENTREZGENE
  Q9UEP5 ENTREZGENE
  Q9UEP6 ENTREZGENE
  Q9UEP7 ENTREZGENE
  Q9UEP8 ENTREZGENE
  Q9UEP9 ENTREZGENE
  S4R306_HUMAN UniProtKB/TrEMBL
  UBE3A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A0D9SGJ1 UniProtKB/TrEMBL
  A0A0U1RVK3 UniProtKB/TrEMBL
  A8K8Z9 UniProtKB/Swiss-Prot
  P78355 UniProtKB/Swiss-Prot
  Q93066 UniProtKB/Swiss-Prot
  Q9UEP4 UniProtKB/Swiss-Prot
  Q9UEP5 UniProtKB/Swiss-Prot
  Q9UEP6 UniProtKB/Swiss-Prot
  Q9UEP7 UniProtKB/Swiss-Prot
  Q9UEP8 UniProtKB/Swiss-Prot
  Q9UEP9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-23 UBE3A  ubiquitin protein ligase E3A  ANCR  Angelman syndrome chromosome region  Data merged from RGD:1353092 737654 PROVISIONAL