UBE3A (ubiquitin protein ligase E3A)

Advanced Search (OLGA)

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 progesterone receptor signaling pathway; protein ubiquitination; and regulation of protein metabolic process. Predicted to be located in cytoplasm and nucleus. Predicted to be part of proteasome complex. Predicted to be active in glutamatergic synapse; postsynaptic cytosol; and synaptic vesicle. 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

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ube3a (ubiquitin protein ligase E3A)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Rattus norvegicus (Norway rat):	Ube3a (ubiquitin protein ligase E3A)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ube3a (ubiquitin protein ligase E3A)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	UBE3A (ubiquitin protein ligase E3A)	NCBI	Ortholog
Canis lupus familiaris (dog):	UBE3A (ubiquitin protein ligase E3A)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ube3a (ubiquitin protein ligase E3A)	NCBI	Ortholog
Sus scrofa (pig):	UBE3A (ubiquitin protein ligase E3A)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	UBE3A (ubiquitin protein ligase E3A)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Tmem70 (transmembrane protein 70)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ube3a (ubiquitin protein ligase E3A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ube3a (ubiquitin protein ligase E3A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ube3a (ubiquitin protein ligase E3A)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Ube3a	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	ube3a	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ube3a.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	ube3a.S	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

UBE3AP1 UBE3AP2

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	25,333,728 - 25,439,056 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	25,333,728 - 25,439,051 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	25,578,875 - 25,684,203 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	23,133,489 - 23,235,221 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	23,133,488 - 23,235,221	NCBI
Celera	15	3,744,415 - 3,845,932 (-)	NCBI		Celera
Cytogenetic Map	15	q11.2	NCBI
HuRef	15	3,706,895 - 3,808,683 (-)	NCBI		HuRef
CHM1_1	15	25,531,939 - 25,633,637 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	23,070,379 - 23,175,682 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Angelman syndrome (EXP,IAGP,ISO,ISS)

autism spectrum disorder (IAGP)

autistic disorder (EXP,IAGP)

chromosome 15q11.2 deletion syndrome (IAGP)

Craniofacial Abnormalities (EXP)

Developmental Disabilities (IAGP)

Developmental Disease (IAGP)

epilepsy (EXP)

fetal alcohol spectrum disorder (ISO)

genetic disease (IAGP)

intellectual disability (IAGP)

Neurodevelopmental Disorders (IAGP)

Prader-Willi syndrome (IAGP)

schizophrenia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(S)-nicotine (EXP)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-palmitoylglycerol (EXP)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (EXP)

aconitine (ISO)

acrolein (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

alpha-pinene (EXP)

amitrole (ISO)

amphetamine (ISO)

aristolochic acid A (EXP)

arsenite(3-) (EXP,ISO)

arsenous acid (EXP,ISO)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[e]pyrene (EXP)

beta-lapachone (EXP)

bis(2-chloroethyl) sulfide (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium sulfate (ISO)

calycosin (EXP)

cannabidiol (EXP)

CGP 52608 (EXP)

chlordecone (ISO)

chloroprene (ISO)

cisplatin (ISO)

cobalt dichloride (EXP,ISO)

cocaine (ISO)

cyproterone acetate (EXP)

diarsenic trioxide (EXP,ISO)

diazinon (ISO)

Dibutyl phosphate (EXP)

doxorubicin (EXP,ISO)

fenofibrate (ISO)

finasteride (ISO)

flutamide (ISO)

folic acid (EXP)

gentamycin (ISO)

hydrogen cyanide (ISO)

ivermectin (EXP)

Mecamylamine (EXP)

methapyrilene (EXP)

methidathion (ISO)

methoxychlor (ISO)

nefazodone (ISO)

nicotine (EXP)

oxaliplatin (ISO)

ozone (EXP,ISO)

paracetamol (ISO)

phenobarbital (ISO)

pirinixic acid (ISO)

potassium cyanide (ISO)

resveratrol (EXP,ISO)

sodium arsenite (EXP)

sulindac (ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

topotecan (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

troglitazone (ISO)

tubocurarine (EXP)

valproic acid (EXP,ISO)

vinclozolin (ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

androgen receptor signaling pathway (IEA,ISO)

brain development (TAS)

cellular response to brain-derived neurotrophic factor stimulus (IEA,ISO)

locomotory exploration behavior (IEA,ISO)

modulation of chemical synaptic transmission (IEA)

motor learning (IEA,ISO)

negative regulation of dendritic spine morphogenesis (IEA,ISO)

negative regulation of TORC1 signaling (IEA,ISS)

ovarian follicle development (IEA,ISO)

positive regulation of Golgi lumen acidification (IEA)

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (IEA,ISO)

positive regulation of protein ubiquitination (IDA)

positive regulation of transcription by RNA polymerase II (IEA,ISO)

progesterone receptor signaling pathway (IDA)

prostate gland growth (IEA,ISO)

proteasome-mediated ubiquitin-dependent protein catabolic process (IEA,ISS)

protein autoubiquitination (IDA)

protein K48-linked ubiquitination (IDA,IEA)

protein polyubiquitination (IBA,IEA)

protein ubiquitination (IEA,ISO)

proteolysis (TAS)

regulation of circadian rhythm (IEA,IMP)

regulation of synaptic plasticity (IEA,ISS)

regulation of ubiquitin-dependent protein catabolic process (IBA,IMP)

response to cocaine (IEA,ISO)

response to hydrogen peroxide (IEA,ISO)

response to progesterone (IDA)

rhythmic process (IEA)

sperm entry (IEA,ISO)

ubiquitin-dependent protein catabolic process (IEA,ISO,TAS)

Cellular Component

cytoplasm (IEA)

cytosol (IBA,IEA)

glutamatergic synapse (IEA,ISO)

nucleus (IEA)

postsynaptic cytosol (IEA,ISO)

proteasome complex (IEA)

synaptic vesicle (IEA,ISO)

Molecular Function

ligase activity (IEA)

metal ion binding (IEA)

protein binding (IPI)

transcription coactivator activity (IEA)

transferase activity (IEA)

ubiquitin protein ligase activity (IBA,IDA,IEA,IMP)

ubiquitin-protein transferase activity (IDA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

ubiquitin/proteasome degradation pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal cardiovascular system morphology (IAGP)

Abnormal eating behavior (IAGP)

Abnormal facial shape (IAGP)

Abnormal speech pattern (IAGP)

Abnormality of movement (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)

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.
14.	Low-dose thyroxine attenuates autism-associated adverse effects of fetal alcohol in male offspring's social behavior and hippocampal gene expression.	Tunc-Ozcan E, etal., Alcohol Clin Exp Res. 2013 Nov;37(11):1986-95. doi: 10.1111/acer.12183. Epub 2013 Jun 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:16878151
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:17907805	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:32814053	PMID:32819562
PMID:32833011	PMID:32855237	PMID:32871949	PMID:32879944	PMID:32889787	PMID:32916124	PMID:32971831	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:36827983	PMID:36898382	PMID:36920305
PMID:37024974	PMID:37191839	PMID:37223481	PMID:37317656	PMID:37385985	PMID:37438558	PMID:37454373	PMID:37541588	PMID:37616343	PMID:37689310	PMID:37827155	PMID:38386664
PMID:38395183	PMID:38423246	PMID:38520260	PMID:38803224	PMID:39126903

Genomics

Comparative Map Data

UBE3A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	25,333,728 - 25,439,056 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	25,333,728 - 25,439,051 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	25,578,875 - 25,684,203 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	23,133,489 - 23,235,221 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	23,133,488 - 23,235,221	NCBI
Celera	15	3,744,415 - 3,845,932 (-)	NCBI		Celera
Cytogenetic Map	15	q11.2	NCBI
HuRef	15	3,706,895 - 3,808,683 (-)	NCBI		HuRef
CHM1_1	15	25,531,939 - 25,633,637 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	23,070,379 - 23,175,682 (-)	NCBI		T2T-CHM13v2.0

Ube3a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	58,871,891 - 58,960,585 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	58,878,498 - 58,961,284 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	59,228,750 - 59,310,837 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	59,228,750 - 59,311,536 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	66,484,120 - 66,562,097 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	48,955,227 - 49,033,145 (+)	NCBI		MGSCv36	mm8
MGSCv36	7	59,096,619 - 59,174,596 (+)	NCBI		MGSCv36	mm8
Cytogenetic Map	7	B5	NCBI
cM Map	7	33.95	NCBI

Ube3a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	119,204,244 - 119,297,097 (+)	NCBI		GRCr8
mRatBN7.2	1	110,070,260 - 110,161,675 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	110,070,480 - 110,157,250 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	115,450,417 - 115,541,305 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	123,923,035 - 124,013,927 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	117,171,279 - 117,262,170 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	116,586,901 - 116,678,161 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	116,587,815 - 116,679,973 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	117,745,283 - 117,834,011 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	110,729,142 - 110,816,491 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	110,807,819 - 110,893,065 (+)	NCBI
Celera	1	104,203,680 - 104,290,036 (+)	NCBI		Celera
Cytogenetic Map	1	q22	NCBI

Ube3a
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955533	3,733,148 - 3,821,577 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955533	3,733,148 - 3,828,353 (+)	NCBI	ChiLan1.0	ChiLan1.0

UBE3A
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	16	9,868,709 - 9,970,172 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	13,508,880 - 13,610,386 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	4,494,029 - 4,595,415 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	15	22,747,069 - 22,848,313 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	15	22,747,075 - 22,825,459 (-)	Ensembl	panpan1.1		panPan2

UBE3A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	3	35,347,034 - 35,442,329 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	3	35,347,064 - 35,440,256 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	3	38,007,643 - 38,103,375 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	3	35,708,135 - 35,803,900 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	3	35,708,068 - 35,801,844 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	3	35,230,926 - 35,326,630 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	3	35,500,117 - 35,595,835 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	3	35,647,966 - 35,743,745 (+)	NCBI		UU_Cfam_GSD_1.0

Ube3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	123,339,609 - 123,442,282 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936471	41,187,612 - 41,283,517 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936471	41,187,665 - 41,290,345 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

UBE3A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	141,887,227 - 141,995,003 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	141,887,179 - 142,001,595 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	157,783,503 - 157,881,397 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

UBE3A
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	26	56,638,936 - 56,738,555 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	26	56,666,162 - 56,736,737 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	39,545,194 - 39,648,255 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in UBE3A
676 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]\|Inborn genetic diseases [RCV004678617]\|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]\|UBE3A-related disorder [RCV003945159]\|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]\|UBE3A-related disorder [RCV004730877]\|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]\|UBE3A-related disorder [RCV004730881]	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 disorder [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]\|UBE3A-related disorder [RCV003925078]\|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]\|UBE3A-related disorder [RCV003915104]\|not provided [RCV000443306]\|not specified [RCV000082348]	Chr15:25339138 [GRCh38] Chr15:25584285 [GRCh37] Chr15:15q11.2	benign\|likely benign
NM_130839.5(UBE3A):c.373T>C (p.Leu125=)	single nucleotide variant	Angelman syndrome [RCV000144348]\|Inborn genetic diseases [RCV002311730]\|not provided [RCV004714425]\|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 provided [RCV004714426]\|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]\|UBE3A-related disorder [RCV003891577]\|not provided [RCV004704847]\|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 provided [RCV004714488]\|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]\|UBE3A-related disorder [RCV003927415]\|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	Angelman syndrome [RCV003619649]\|not specified [RCV000147878]	Chr15:25354677 [GRCh38] Chr15:25599824 [GRCh37] Chr15:15q11.2	likely benign\|uncertain significance
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	conflicting interpretations of pathogenicity\|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 disorder [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	Angelman syndrome [RCV004546472]\|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	pathogenic\|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 provided [RCV004701457]	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 provided [RCV004584705]\|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	Angelman syndrome [RCV003509533]\|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 provided [RCV004705532]\|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	Angelman syndrome [RCV003619682]\|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]\|UBE3A-related disorder [RCV003900014]\|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	Angelman syndrome [RCV003509544]\|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]\|UBE3A-related disorder [RCV003960186]\|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	Angelman syndrome [RCV003619685]\|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]\|not specified [RCV004586821]	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	Angelman syndrome [RCV003619707]\|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]\|UBE3A-related disorder [RCV003892584]\|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]\|not provided [RCV004702327]	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_130839.5(UBE3A):c.1891C>T (p.Pro631Ser)	single nucleotide variant	Angelman syndrome [RCV003870066]	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 disorder [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]\|not provided [RCV004721630]	Chr15:25340139 [GRCh38] Chr15:25585286 [GRCh37] Chr15:15q11.2	likely pathogenic\|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	Angelman syndrome [RCV003771732]\|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]\|Inborn genetic diseases [RCV004031493]	Chr15:25375483 [GRCh38] Chr15:25620630 [GRCh37] Chr15:15q11.2	likely benign\|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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message