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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Chromosome Disorders (D025063)
Parent Node: Movement Disorders (D009069)
..Starting node ..Angelman Syndrome (D017204)
Child Nodes:
........Happy puppet syndrome (formerly) (C531619)
Sister Nodes:
..Akathisia, Drug-Induced (D017109)
..Angelman Syndrome (D017204) 1
..Beta-Ureidopropionase Deficiency (C563210)
..Dyskinesias (D020820) 199
..Dystonic Disorders (D020821) 31
..Essential Tremor (D020329) 3
..Guanidinoacetate methyltransferase deficiency (C537622)
..Hepatolenticular Degeneration (D006527) 2
..Multiple System Atrophy (D019578) 21
..Non-lissencephalic cortical dysplasia (C536243)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Parkinsonian Disorders (D020734) 39
..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..Pronation-Supination Of The Forearm, Impairment Of (C566757)
..Supranuclear Palsy, Progressive (D013494) 5
..Telfer Sugar Jaeger syndrome (C536955)
..Tic Disorders (D013981) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

674

Name:

Angelman Syndrome

Definition:

A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence 'happy'); jerky puppetlike movements (hence 'puppet'); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

Alternative IDs:

OMIM:105830

ParentIDs:

MESH:D000015|MESH:D009069|MESH:D025063

TreeNumbers:

C10.228.662.075 |C16.131.077.095 |C16.131.260.040 |C16.320.180.040

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D017204
MeSH: D017204
OMIM: 105830;

Genes: CDKL5; MECP2; UBE3A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001344	Absent speech
3	HP:0000635	Blue irides
4	HP:0000248	Brachycephaly
5	HP:0002136	Broad-based gait	HP:0040281
6	HP:0002120	Cerebral cortical atrophy
7	HP:0002312	Clumsiness	HP:0040281
8	HP:0002019	Constipation
9	HP:0000490	Deeply set eye
10	HP:0002307	Drooling
11	HP:0002353	EEG abnormality
12	HP:0000577	Exotropia
13	HP:0002286	Fair hair
14	HP:0008872	Feeding difficulties in infancy
15	HP:0005469	Flat occiput
16	HP:0001290	Generalized hypotonia
17	HP:0001263	Global developmental delay
18	HP:0000752	Hyperactivity
19	HP:0001347	Hyperreflexia
20	HP:0001010	Hypopigmentation of the skin
21	HP:0000327	Hypoplasia of the maxilla
22	HP:0001252	Hypotonia
23	HP:0006887	Intellectual disability, progressive
24	HP:0010864	Intellectual disability, severe
25	HP:0200085	Limb tremor
26	HP:0000158	Macroglossia
27	HP:0000303	Mandibular prognathia
28	HP:0001270	Motor delay
29	HP:0000545	Myopia
30	HP:0000639	Nystagmus
31	HP:0001513	Obesity
32	HP:0000749	Paroxysmal bursts of laughter
33	HP:0007240	Progressive gait ataxia
34	HP:0010808	Protruding tongue
35	HP:0002650	Scoliosis
36	HP:0005484	Secondary microcephaly
37	HP:0001250	Seizure
38	HP:0006979	Sleep-wake cycle disturbance
39	HP:0003745	Sporadic	HP:0040282
40	HP:0000486	Strabismus
41	HP:0000154	Wide mouth
42	HP:0000687	Widely spaced teeth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_003159.2(CDKL5):c.902_903dupGA (p.Leu302Aspfs)	6792	CDKL5	Pathogenic	267608546	RCV000133391;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	X	18616658	18616659	NM_003159.2:c.902_903dupGA	NP_003150.1:p.Leu302Aspfs	NC_000023.10:g.18616658_18616659dupGA	RettBASE (CDKL5):75	C0162635 105830 Angelman syndrome
NM_004992.3(MECP2):c.1159_1210del52 (p.Pro387Serfs)	4204	MECP2	Pathogenic	-1	RCV000170146;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	X	153296069	153296120	NM_004992.3:c.1159_1210del52	NP_004983.1:p.Pro387Serfs		dbVar:nssv7487093,dbVar:nsv1197393	C0162635 105830 Angelman syndrome
NM_004992.3(MECP2):c.1157_1200del44 (p.Leu386Glnfs)	4204	MECP2	Pathogenic	63749748	RCV000132897; RCV000170100;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	X	153296079	153296122	NM_004992.3:c.1157_1200del44	NP_004983.1:p.Leu386Glnfs	NC_000023.10:g.153296079_153296122del44	-	C0162635 105830 Angelman syndrome; C0035372 312750 Rett syndrome
NM_001110792.1(MECP2):c.1197_1202delCCCACC (p.Pro402_Pro403del)	4204	MECP2	Uncertain significance	267608332	RCV000170256; RCV000132916;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN221809	X	153296113	153296118	NM_001110792.1:c.1197_1202delCCCACC	NP_001104262.1:p.Pro402_Pro403del	NC_000023.10:g.153296113_153296118delGGTGGG	-	C0162635 105830 Angelman syndrome; CN221809 not provided
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys)	4204	MECP2	Pathogenic	28935468	RCV000202468; RCV000012597; RCV000178232; RCV000081218;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:CN221809	X	153296363	153296363	NM_004992.3:c.916C>T	NP_004983.1:p.Arg306Cys	NC_000023.10:g.153296363G>A	HGMD:CM993354,OMIM Allelic Variant:300005.0016	C0162635 105830 Angelman syndrome; C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.473C>T (p.Thr158Met)	4204	MECP2	Pathogenic	28934906	RCV000170109; RCV000012580; RCV000012581; RCV000169935; RCV000170110; RCV000133129;	N	; MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:C1845336,OMIM:300496; MedGen:C1968556,OMIM:300673, Orphanet:ORPHA209370; MedGen:CN221809	X	153296806	153296806	NM_004992.3:c.473C>T	NP_004983.1:p.Thr158Met	NC_000023.10:g.153296806G>A	OMIM Allelic Variant:300005.0007	C0162635 105830 Angelman syndrome; C1845336 300496 Autism, susceptibility to, X-linked 3; CN221809 not provided; C0035372 312750 Rett syndrome; C1968556 300673 Severe neonatal-onset encephalopathy with microcephaly
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter)	4204	MECP2	Pathogenic	61748396	RCV000133106; RCV000170108; RCV000012606;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:C2748910, Orphanet:ORPHA3095	X	153296856	153296856	NM_004992.3:c.423C>G	NP_004983.1:p.Tyr141Ter	NC_000023.10:g.153296856G>C	OMIM Allelic Variant:300005.0025	C0162635 105830 Angelman syndrome; C2748910 Atypical Rett syndrome; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys)	4204	MECP2	Pathogenic	28934904	RCV000169934; RCV000012578; RCV000030666; RCV000170107; RCV000081202;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:C1968550,OMIM:300055,ORPHA:3077; MedGen:C2677682; MedGen:CN221809	X	153296882	153296882	NM_004992.3:c.397C>T	NP_004983.1:p.Arg133Cys	NC_000023.10:g.153296882G>A,NC_000023.10:g.153296882G>C	HGMD:CM992176,OMIM Allelic Variant:300005.0001	C0162635 105830 Angelman syndrome; C1968550 300055 Mental retardation, X-linked, syndromic 13; CN221809 not provided; C0035372 312750 Rett syndrome; C2677682 Rett syndrome, zappella variant
NM_004992.3(MECP2):c.302C>G (p.Pro101Arg)	4204	MECP2	Pathogenic;Uncertain significance	61754453	RCV000133058; RCV000170238;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	X	153297733	153297733	NM_004992.3:c.302C>G	NP_004983.1:p.Pro101Arg	NC_000023.10:g.153297733G>A,NC_000023.10:g.153297733G>C,NC_000023.10:g.153297733	-	C0162635 105830 Angelman syndrome; C0035372 312750 Rett syndrome
NM_004992.3(MECP2):c.167_168delCC (p.Pro56Argfs)	4204	MECP2	Pathogenic	267608434	RCV000133026; RCV000012589;	N	MedGen:C0035372,OMIM:312750, Orphanet:ORPHA778,SNOMED CT:68618008; MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	X	153297867	153297868	NM_004992.3:c.167_168delCC	NP_004983.1:p.Pro56Argfs	NC_000023.10:g.153297867_153297868delGG	OMIM Allelic Variant:300005.0010	C0162635 105830 Angelman syndrome; C0035372 312750 Rett syndrome
NC_000015.9:g.(?_23730704)_(28530182_?)del	-1	more than 10	Pathogenic	-1	RCV000191153;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	23730704	28530182	-	-		-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.*46delA	7337	UBE3A	Uncertain significance	368425414	RCV000144360;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584238	25584238	NM_130838.1:c.*46delA		NC_000015.9:g.25584238delT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.13_17delCAAAA	7337	UBE3A	Uncertain significance	587782926	RCV000144359;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584267	25584271	NM_130838.1:c.13_17delCAAAA		NC_000015.9:g.25584267_25584271delTTTTG	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2556_*6delGTAAAACAAA	7337	UBE3A	Benign;Pathogenic	587781232	RCV000144308; RCV000192645;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374	15	25584278	25584287	NM_130838.1:c.2556_*6delGTAAAACAAA		NC_000015.9:g.25584278_25584287delTTTGTTTTAC	-	C0162635 105830 Angelman syndrome; CN169374 not specified
NM_130838.1(UBE3A):c.2558A>T (p.Ter853Leu)	7337	UBE3A	Pathogenic	76794400	RCV000144554;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584285	25584285	NM_130838.1:c.2558A>T	NP_570853.1:p.Ter853Leu	NC_000015.9:g.25584285T>A,NC_000015.9:g.25584285T>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2487_2554del68 (p.Ser830Valfs)	7337	UBE3A	Pathogenic	-1	RCV000144303;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584289	25584356	NM_130838.1:c.2487_2554del68	NP_570853.1:p.Ser830Valfs		-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2549G>A (p.Gly850Asp)	7337	UBE3A	Uncertain significance	587784528	RCV000147884; RCV000154106;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN221809	15	25584294	25584294	NM_130838.1:c.2549G>A	NP_570853.1:p.Gly850Asp	NC_000015.9:g.25584294C>T	-	C0162635 105830 Angelman syndrome; CN221809 not provided
NM_130838.1(UBE3A):c.2547dupT (p.Gly850Trpfs)	7337	UBE3A	Pathogenic	797046088	RCV000194248;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584296	25584296	NM_130838.1:c.2547dupT	NP_570853.1:p.Gly850Trpfs	NC_000015.9:g.25584296dupA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2463_2521dup59 (p.Lys841Ilefs)	7337	UBE3A	Pathogenic	-1	RCV000144300;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584322	25584380	NM_130838.1:c.2463_2521dup59	NP_570853.1:p.Lys841Ilefs		-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2507_2510delAAGA (p.Lys836Argfs)	7337	UBE3A	Pathogenic	587784527	RCV000147883;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584333	25584336	NM_130838.1:c.2507_2510delAAGA	NP_570853.1:p.Lys836Argfs	NC_000015.9:g.25584333_25584336delTCTT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2507_2508delAA (p.Lys836Argfs)	7337	UBE3A	Pathogenic	587781231	RCV000144307;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584335	25584336	NM_130838.1:c.2507_2508delAA	NP_570853.1:p.Lys836Argfs	NC_000015.9:g.25584335_25584336delTT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2487_2507dup21 (p.Leu835_Lys836insAsnSerSerLysGluLysLeu)	7337	UBE3A	Pathogenic	587781240	RCV000144316;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584336	25584356	NM_130838.1:c.2487_2507dup21	NP_570853.1:p.Leu835_Lys836insAsnSerSerLysGluLysLeu	NC_000015.9:g.25584336_25584340dupTTAAG,NC_000015.9:g.25584336_25584356dup21	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2503_2507dupCTTAA (p.Lys836Asnfs)	7337	UBE3A	Pathogenic	587781240	RCV000193223;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584336	25584340	NM_130838.1:c.2503_2507dupCTTAA	NP_570853.1:p.Lys836Asnfs	NC_000015.9:g.25584336_25584340dupTTAAG,NC_000015.9:g.25584336_25584356dup21	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2503_2506delCTTA (p.Leu835Lysfs)	7337	UBE3A	Pathogenic	398124440	RCV000173915; RCV000082347;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN221809	15	25584337	25584340	NM_130838.1:c.2503_2506delCTTA	NP_570853.1:p.Leu835Lysfs	NC_000015.9:g.25584337_25584340delTAAG	-	C0162635 105830 Angelman syndrome; CN221809 not provided
NM_130838.1(UBE3A):c.2503_2506dupCTTA (p.Lys836Thrfs)	7337	UBE3A	Pathogenic	587781230	RCV000144306;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584337	25584340	NM_130838.1:c.2503_2506dupCTTA	NP_570853.1:p.Lys836Thrfs	NC_000015.9:g.25584337_25584340dupTAAG,NC_000015.9:g.25584337_25584380dup44	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2463_2506dup44 (p.Lys836Ilefs)	7337	UBE3A	Pathogenic	587781230	RCV000194169;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584337	25584380	NM_130838.1:c.2463_2506dup44	NP_570853.1:p.Lys836Ilefs	NC_000015.9:g.25584337_25584340dupTAAG,NC_000015.9:g.25584337_25584380dup44	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2503C>T (p.Leu835Phe)	7337	UBE3A	Likely pathogenic	587783097	RCV000147882; RCV000144763;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN221809	15	25584340	25584340	NM_130838.1:c.2503C>T	NP_570853.1:p.Leu835Phe	NC_000015.9:g.25584340G>A	-	C0162635 105830 Angelman syndrome; CN221809 not provided
NM_130838.1(UBE3A):c.2502dupA (p.Leu835Thrfs)	7337	UBE3A	Pathogenic	797046087	RCV000195178;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584341	25584341	NM_130838.1:c.2502dupA	NP_570853.1:p.Leu835Thrfs	NC_000015.9:g.25584341dupT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2497_2500dupGAAA (p.Lys834Argfs)	7337	UBE3A	Pathogenic	587781229	RCV000144305;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584343	25584346	NM_130838.1:c.2497_2500dupGAAA	NP_570853.1:p.Lys834Argfs	NC_000015.9:g.25584343_25584346dupTTTC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2489C>G (p.Ser830Ter)	7337	UBE3A	Pathogenic	587781228	RCV000144304;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584354	25584354	NM_130838.1:c.2489C>G	NP_570853.1:p.Ser830Ter	NC_000015.9:g.25584354G>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2485T>C (p.Tyr829His)	7337	UBE3A	Pathogenic	587784526	RCV000147881;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584358	25584358	NM_130838.1:c.2485T>C	NP_570853.1:p.Tyr829His	NC_000015.9:g.25584358A>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2480C>T (p.Pro827Leu)	7337	UBE3A	Pathogenic	587781239	RCV000144315;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584363	25584363	NM_130838.1:c.2480C>T	NP_570853.1:p.Pro827Leu	NC_000015.9:g.25584363G>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2478delT (p.Pro827Argfs)	7337	UBE3A	Pathogenic	587781227	RCV000144302;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584365	25584365	NM_130838.1:c.2478delT	NP_570853.1:p.Pro827Argfs	NC_000015.9:g.25584365delA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2475_2478delACTT (p.Leu825Phefs)	7337	UBE3A	Likely pathogenic	863224940	RCV000196394;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584365	25584368	NM_130838.1:c.2475_2478delACTT	NP_570853.1:p.Leu825Phefs	NC_000015.9:g.25584365_25584368delAAGT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2474T>A (p.Leu825Ter)	7337	UBE3A	Pathogenic	587781226	RCV000144301;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584369	25584369	NM_130838.1:c.2474T>A	NP_570853.1:p.Leu825Ter	NC_000015.9:g.25584369A>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2439-31T>G	7337	UBE3A	Uncertain significance	587782912	RCV000144330;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584435	25584435	NM_130838.1:c.2439-31T>G		NC_000015.9:g.25584435A>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2439-34delG	7337	UBE3A	Uncertain significance	564915971	RCV000144358;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584438	25584438	NM_130838.1:c.2439-34delG		NC_000015.9:g.25584438delC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2439-37dup	7337	UBE3A	Uncertain significance	587782913	RCV000144331;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584441	25584441	NM_130838.1:c.2439-37dup		NC_000015.9:g.25584441dupT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2439-40C>T	7337	UBE3A	Uncertain significance	373042168	RCV000144332;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25584444	25584444	NM_130838.1:c.2439-40C>T		NC_000015.9:g.25584444G>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2406_2408delGAT (p.Met802del)	7337	UBE3A	Pathogenic	587781238	RCV000144314;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25585262	25585264	NM_130838.1:c.2406_2408delGAT	NP_570853.1:p.Met802del	NC_000015.9:g.25585262_25585264delATC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2370_2373delCAGA (p.Asp790Glufs)	7337	UBE3A	Pathogenic	587781225	RCV000144299;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25585297	25585300	NM_130838.1:c.2370_2373delCAGA	NP_570853.1:p.Asp790Glufs	NC_000015.9:g.25585297_25585300delTCTG	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2355T>C (p.Phe785=)	7337	UBE3A	Benign;Uncertain significance	587780991	RCV000144329; RCV000126221;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374	15	25585315	25585315	NM_130838.1:c.2355T>C	NP_570853.1:p.Phe785=	NC_000015.9:g.25585315A>G	-	C0162635 105830 Angelman syndrome; CN169374 not specified
NM_130838.1(UBE3A):c.2344_2345delTT (p.Phe782Leufs)	7337	UBE3A	Pathogenic	587781224	RCV000144298;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25585325	25585326	NM_130838.1:c.2344_2345delTT	NP_570853.1:p.Phe782Leufs	NC_000015.9:g.25585325_25585326delAA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2337_2340dupAAGA (p.Leu781Lysfs)	7337	UBE3A	Pathogenic	797046086	RCV000193045;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25585330	25585333	NM_130838.1:c.2337_2340dupAAGA	NP_570853.1:p.Leu781Lysfs	NC_000015.9:g.25585330_25585333dupTCTT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2304G>A (p.Trp768Ter)	7337	UBE3A	Pathogenic	111033595	RCV000008431;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25585366	25585366	NM_130838.1:c.2304G>A	NP_570853.1:p.Trp768Ter	NC_000015.9:g.25585366C>T	OMIM Allelic Variant:601623.0005	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2294+20A>G	7337	UBE3A	Uncertain significance	587782911	RCV000144328;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599480	25599480	NM_130838.1:c.2294+20A>G		NC_000015.9:g.25599480T>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2289dupG (p.Ile764Aspfs)	7337	UBE3A	Pathogenic	587781223	RCV000144297;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599505	25599505	NM_130838.1:c.2289dupG	NP_570853.1:p.Ile764Aspfs	NC_000015.9:g.25599505dupC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2284G>A (p.Val762Ile)	7337	UBE3A	Likely benign;Uncertain significance	587782910	RCV000144327; RCV000144823; RCV000147880;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374; MedGen:CN221809	15	25599510	25599510	NM_130838.1:c.2284G>A	NP_570853.1:p.Val762Ile	NC_000015.9:g.25599510C>T	-	C0162635 105830 Angelman syndrome; CN221809 not provided; CN169374 not specified
NM_130838.1(UBE3A):c.2247_2251dupAACTA (p.Thr751Lysfs)	7337	UBE3A	Pathogenic	587781222	RCV000144296;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599543	25599547	NM_130838.1:c.2247_2251dupAACTA	NP_570853.1:p.Thr751Lysfs	NC_000015.9:g.25599543_25599547dupTAGTT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2245G>T (p.Glu749Ter)	7337	UBE3A	Pathogenic	587781220	RCV000144294;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599549	25599549	NM_130838.1:c.2245G>T	NP_570853.1:p.Glu749Ter	NC_000015.9:g.25599549C>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2245delG (p.Glu749Lysfs)	7337	UBE3A	Pathogenic	587781221	RCV000144295;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599549	25599549	NM_130838.1:c.2245delG	NP_570853.1:p.Glu749Lysfs	NC_000015.9:g.25599549delC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2233C>T (p.Gln745Ter)	7337	UBE3A	Pathogenic	587781219	RCV000144293;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599561	25599561	NM_130838.1:c.2233C>T	NP_570853.1:p.Gln745Ter	NC_000015.9:g.25599561G>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2221-42T>C	7337	UBE3A	Uncertain significance	543571933	RCV000144326;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599615	25599615	NM_130838.1:c.2221-42T>C		NC_000015.9:g.25599615A>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2186delC (p.Pro729Glnfs)	7337	UBE3A	Pathogenic	587781218	RCV000144292;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599709	25599709	NM_130838.1:c.2186delC	NP_570853.1:p.Pro729Glnfs	NC_000015.9:g.25599709delG	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2178dupA (p.Phe727Ilefs)	7337	UBE3A	Pathogenic	797046085	RCV000194009;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599717	25599717	NM_130838.1:c.2178dupA	NP_570853.1:p.Phe727Ilefs	NC_000015.9:g.25599717dupT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2177T>A (p.Leu726Ter)	7337	UBE3A	Pathogenic	587781217	RCV000144291;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599718	25599718	NM_130838.1:c.2177T>A	NP_570853.1:p.Leu726Ter	NC_000015.9:g.25599718A>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2170_2174dupAAGTA (p.Tyr725Terfs)	7337	UBE3A	Pathogenic	587781216	RCV000144290;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599721	25599725	NM_130838.1:c.2170_2174dupAAGTA	NP_570853.1:p.Tyr725Terfs	NC_000015.9:g.25599721_25599725dupTACTT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2102_2103insTATT (p.Lys701Asnfs)	7337	UBE3A	Pathogenic	587781215	RCV000144289;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599792	25599793	NM_130838.1:c.2102_2103insTATT	NP_570853.1:p.Lys701Asnfs	NC_000015.9:g.25599792_25599793insAATA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2069T>G (p.Phe690Cys)	7337	UBE3A	Pathogenic	587781237	RCV000144313;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599826	25599826	NM_130838.1:c.2069T>G	NP_570853.1:p.Phe690Cys	NC_000015.9:g.25599826A>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2065-2A>C	7337	UBE3A	Pathogenic	587780580	RCV000144553;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25599832	25599832	NM_130838.1:c.2065-2A>C		NC_000015.9:g.25599832T>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2064+19T>G	7337	UBE3A	Uncertain significance	587782925	RCV000144357;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601020	25601020	NM_130838.1:c.2064+19T>G		NC_000015.9:g.25601020A>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2064+9T>C	7337	UBE3A	Benign;Likely benign;Uncertain significance	79328837	RCV000144346; RCV000082346;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374	15	25601030	25601030	NM_130838.1:c.2064+9T>C		NC_000015.9:g.25601030A>G	-	C0162635 105830 Angelman syndrome; CN169374 not specified
NM_130838.1(UBE3A):c.2036A>C (p.Lys679Thr)	7337	UBE3A	Uncertain significance	202161423	RCV000144356; RCV000144822; RCV000192972;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374; MedGen:CN221809	15	25601067	25601067	NM_130838.1:c.2036A>C	NP_570853.1:p.Lys679Thr	NC_000015.9:g.25601067T>G	-	C0162635 105830 Angelman syndrome; CN221809 not provided; CN169374 not specified
NM_130838.1(UBE3A):c.2031T>C (p.Gly677=)	7337	UBE3A	Uncertain significance	587782924	RCV000144355;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601072	25601072	NM_130838.1:c.2031T>C	NP_570853.1:p.Gly677=	NC_000015.9:g.25601072A>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2018T>G (p.Leu673Arg)	7337	UBE3A	Uncertain significance	587782920	RCV000144345;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601085	25601085	NM_130838.1:c.2018T>G	NP_570853.1:p.Leu673Arg	NC_000015.9:g.25601085A>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1972C>T (p.Gln658Ter)	7337	UBE3A	Pathogenic	587781213	RCV000144287;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601131	25601131	NM_130838.1:c.1972C>T	NP_570853.1:p.Gln658Ter	NC_000015.9:g.25601131G>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1972delC (p.Gln658Argfs)	7337	UBE3A	Pathogenic	587781214	RCV000144288;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601131	25601131	NM_130838.1:c.1972delC	NP_570853.1:p.Gln658Argfs	NC_000015.9:g.25601131delG	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1967C>T (p.Thr656Ile)	7337	UBE3A	Pathogenic	587781236	RCV000144312;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601136	25601136	NM_130838.1:c.1967C>T	NP_570853.1:p.Thr656Ile	NC_000015.9:g.25601136G>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1956_1963delCATGATGA (p.Met653Hisfs)	7337	UBE3A	Pathogenic	587781211	RCV000144285;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601140	25601147	NM_130838.1:c.1956_1963delCATGATGA	NP_570853.1:p.Met653Hisfs	NC_000015.9:g.25601140_25601147delTCATCATG	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1957dupA (p.Met653Asnfs)	7337	UBE3A	Pathogenic	587781212	RCV000144286;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601146	25601146	NM_130838.1:c.1957dupA	NP_570853.1:p.Met653Asnfs	NC_000015.9:g.25601146dupT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1912_1913delAG (p.Ser638Phefs)	7337	UBE3A	Pathogenic	587781210	RCV000144284;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601190	25601191	NM_130838.1:c.1912_1913delAG	NP_570853.1:p.Ser638Phefs	NC_000015.9:g.25601190_25601191delCT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1814_1824delTACTGGATGTA (p.Ile605Thrfs)	7337	UBE3A	Pathogenic	587781209	RCV000144283;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601913	25601923	NM_130838.1:c.1814_1824delTACTGGATGTA	NP_570853.1:p.Ile605Thrfs	NC_000015.9:g.25601913_25601923delTACATCCAGTA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1821T>C (p.Asp607=)	7337	UBE3A	Uncertain significance	587784522	RCV000147876;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601916	25601916	NM_130838.1:c.1821T>C	NP_570853.1:p.Asp607=	NC_000015.9:g.25601916A>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1811_1812delGT (p.Cys604Tyrfs)	7337	UBE3A	Pathogenic	864309508	RCV000202543;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601925	25601926	NM_130838.1:c.1811_1812delGT	NP_570853.1:p.Cys604Tyrfs	NC_000015.9:g.25601925_25601926delAC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1805A>G (p.Asn602Ser)	7337	UBE3A	Uncertain significance	587784521	RCV000147875;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601932	25601932	NM_130838.1:c.1805A>G	NP_570853.1:p.Asn602Ser	NC_000015.9:g.25601932T>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1774_1777delATTG (p.Ile592Alafs)	7337	UBE3A	Pathogenic	587784520	RCV000147874;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601960	25601963	NM_130838.1:c.1774_1777delATTG	NP_570853.1:p.Ile592Alafs	NC_000015.9:g.25601960_25601963delCAAT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1763A>C (p.Gln588Pro)	7337	UBE3A	Uncertain significance	587782919	RCV000144344;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601974	25601974	NM_130838.1:c.1763A>C	NP_570853.1:p.Gln588Pro	NC_000015.9:g.25601974T>C,NC_000015.9:g.25601974T>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1763A>G (p.Gln588Arg)	7337	UBE3A	Likely pathogenic	587782919	RCV000147873;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601974	25601974	NM_130838.1:c.1763A>G	NP_570853.1:p.Gln588Arg	NC_000015.9:g.25601974T>C,NC_000015.9:g.25601974T>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1762_1763delCA (p.Gln588Valfs)	7337	UBE3A	Pathogenic	794727738	RCV000179007;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601974	25601975	NM_130838.1:c.1762_1763delCA	NP_570853.1:p.Gln588Valfs	NC_000015.9:g.25601974_25601975delTG	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1762C>G (p.Gln588Glu)	7337	UBE3A	Uncertain significance	587782918	RCV000144343;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601975	25601975	NM_130838.1:c.1762C>G	NP_570853.1:p.Gln588Glu	NC_000015.9:g.25601975G>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1750G>C (p.Glu584Gln)	7337	UBE3A	Pathogenic	587781235	RCV000144311;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601987	25601987	NM_130838.1:c.1750G>C	NP_570853.1:p.Glu584Gln	NC_000015.9:g.25601987C>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1745_1747delCTT (p.Ser582del)	7337	UBE3A	Likely pathogenic;Pathogenic	587781234	RCV000144310;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25601990	25601992	NM_130838.1:c.1745_1747delCTT	NP_570853.1:p.Ser582del	NC_000015.9:g.25601990_25601992delAAG	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1730G>A (p.Trp577Ter)	7337	UBE3A	Pathogenic	587781208	RCV000144282;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25602007	25602007	NM_130838.1:c.1730G>A	NP_570853.1:p.Trp577Ter	NC_000015.9:g.25602007C>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1726_1730delTTTTG (p.Phe576Valfs)	7337	UBE3A	Pathogenic	587784519	RCV000147872;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25602007	25602011	NM_130838.1:c.1726_1730delTTTTG	NP_570853.1:p.Phe576Valfs	NC_000015.9:g.25602007_25602011delCAAAA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1707C>T (p.Tyr569=)	7337	UBE3A	Benign;Likely benign;Uncertain significance	139082033	RCV000144354; RCV000126219; RCV000192008;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374; MedGen:CN221809	15	25602030	25602030	NM_130838.1:c.1707C>T	NP_570853.1:p.Tyr569=	NC_000015.9:g.25602030G>A	-	C0162635 105830 Angelman syndrome; CN221809 not provided; CN169374 not specified
NM_130838.1(UBE3A):c.1697T>A (p.Met566Lys)	7337	UBE3A	Likely pathogenic	587781244	RCV000144321;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25602040	25602040	NM_130838.1:c.1697T>A	NP_570853.1:p.Met566Lys	NC_000015.9:g.25602040A>C,NC_000015.9:g.25602040A>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1694-2A>G	7337	UBE3A	Pathogenic	587780579	RCV000144552;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25602045	25602045	NM_130838.1:c.1694-2A>G		NC_000015.9:g.25602045T>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1693+32G>A	7337	UBE3A	Uncertain significance	373746667	RCV000144342;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605498	25605498	NM_130838.1:c.1693+32G>A		NC_000015.9:g.25605498C>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1693+12A>G	7337	UBE3A	Uncertain significance	368720379	RCV000147871;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605518	25605518	NM_130838.1:c.1693+12A>G		NC_000015.9:g.25605518T>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1688A>G (p.Asp563Gly)	7337	UBE3A	Likely pathogenic	587784518	RCV000147870;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605535	25605535	NM_130838.1:c.1688A>G	NP_570853.1:p.Asp563Gly	NC_000015.9:g.25605535T>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1682A>G (p.Asn561Ser)	7337	UBE3A	Uncertain significance	587784517	RCV000147869;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605541	25605541	NM_130838.1:c.1682A>G	NP_570853.1:p.Asn561Ser	NC_000015.9:g.25605541T>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1639_1642dupGTTT (p.Ser548Cysfs)	7337	UBE3A	Pathogenic	587781207	RCV000144281;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605581	25605584	NM_130838.1:c.1639_1642dupGTTT	NP_570853.1:p.Ser548Cysfs	NC_000015.9:g.25605581_25605584dupAAAC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1634G>A (p.Gly545Glu)	7337	UBE3A	Likely pathogenic	587784516	RCV000147868;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605589	25605589	NM_130838.1:c.1634G>A	NP_570853.1:p.Gly545Glu	NC_000015.9:g.25605589C>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1633G>A (p.Gly545Arg)	7337	UBE3A	Pathogenic	587781233	RCV000144309;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605590	25605590	NM_130838.1:c.1633G>A	NP_570853.1:p.Gly545Arg	NC_000015.9:g.25605590C>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1629_1631delTGA (p.Asp543del)	7337	UBE3A	Uncertain significance	587782909	RCV000144325;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605592	25605594	NM_130838.1:c.1629_1631delTGA	NP_570853.1:p.Asp543del	NC_000015.9:g.25605592_25605594delTCA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1608dupT (p.Glu537Terfs)	7337	UBE3A	Pathogenic	587781206	RCV000144280;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605615	25605615	NM_130838.1:c.1608dupT	NP_570853.1:p.Glu537Terfs	NC_000015.9:g.25605615dupA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1599T>A (p.Tyr533Ter)	7337	UBE3A	Pathogenic	587784515	RCV000147867;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605624	25605624	NM_130838.1:c.1599T>A	NP_570853.1:p.Tyr533Ter	NC_000015.9:g.25605624A>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1571dupA (p.Asn524Lysfs)	7337	UBE3A	Pathogenic	587781205	RCV000144279;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605652	25605652	NM_130838.1:c.1571dupA	NP_570853.1:p.Asn524Lysfs	NC_000015.9:g.25605652dupT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1567G>T (p.Glu523Ter)	7337	UBE3A	Pathogenic	587784514	RCV000147866;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25605656	25605656	NM_130838.1:c.1567G>T	NP_570853.1:p.Glu523Ter	NC_000015.9:g.25605656C>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1548+34T>C	7337	UBE3A	Uncertain significance	587782917	RCV000144341;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615679	25615679	NM_130838.1:c.1548+34T>C		NC_000015.9:g.25615679A>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs)	7337	UBE3A	Pathogenic	398124438	RCV000177394; RCV000082343;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN221809	15	25615713	25615714	NM_130838.1:c.1547_1548delGGinsTGCTAGACAA	NP_570853.1:p.Arg516Leufs	NC_000015.9:g.25615713_25615714delCCinsTTGTCTAGCA	-	C0162635 105830 Angelman syndrome; CN221809 not provided
NM_130838.1(UBE3A):c.1537dupG (p.Ala513Glyfs)	7337	UBE3A	Pathogenic	587781204	RCV000144278;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615724	25615724	NM_130838.1:c.1537dupG	NP_570853.1:p.Ala513Glyfs	NC_000015.9:g.25615724dupC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1505_1506delTC (p.Leu502Glnfs)	7337	UBE3A	Pathogenic	587781203	RCV000144277;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615755	25615756	NM_130838.1:c.1505_1506delTC	NP_570853.1:p.Leu502Glnfs	NC_000015.9:g.25615755_25615756delGA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1461_1468delCTACAGCT (p.Tyr488Serfs)	7337	UBE3A	Pathogenic	587784513	RCV000147865;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615793	25615800	NM_130838.1:c.1461_1468delCTACAGCT	NP_570853.1:p.Tyr488Serfs	NC_000015.9:g.25615793_25615800delAGCTGTAG	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1434G>A (p.Met478Ile)	7337	UBE3A	Uncertain significance	587782916	RCV000144340;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615827	25615827	NM_130838.1:c.1434G>A	NP_570853.1:p.Met478Ile	NC_000015.9:g.25615827C>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1430G>C (p.Arg477Pro)	7337	UBE3A	Likely pathogenic	587781243	RCV000144320;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615831	25615831	NM_130838.1:c.1430G>C	NP_570853.1:p.Arg477Pro	NC_000015.9:g.25615831C>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1387delG (p.Ala463Leufs)	7337	UBE3A	Pathogenic	587781202	RCV000144276;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615874	25615874	NM_130838.1:c.1387delG	NP_570853.1:p.Ala463Leufs	NC_000015.9:g.25615874delC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1365_1379delGACATGTCCCTTTAT (p.Met455_Phe459del)	7337	UBE3A	Pathogenic	587780585	RCV000144559;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615882	25615896	NM_130838.1:c.1365_1379delGACATGTCCCTTTAT	NP_570853.1:p.Met455_Phe459del	NC_000015.9:g.25615882_25615896delATAAAGGGACATGTC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1373C>T (p.Pro458Leu)	7337	UBE3A	Pathogenic	587780584	RCV000144558;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615888	25615888	NM_130838.1:c.1373C>T	NP_570853.1:p.Pro458Leu	NC_000015.9:g.25615888G>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1371T>A (p.Cys457Ter)	7337	UBE3A	Pathogenic	587781201	RCV000144275;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615890	25615890	NM_130838.1:c.1371T>A	NP_570853.1:p.Cys457Ter	NC_000015.9:g.25615890A>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1361_1362delTT (p.Phe454Tyrfs)	7337	UBE3A	Pathogenic	587781200	RCV000144274;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615899	25615900	NM_130838.1:c.1361_1362delTT	NP_570853.1:p.Phe454Tyrfs	NC_000015.9:g.25615899_25615900delAA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1355dupT (p.Ser453Leufs)	7337	UBE3A	Pathogenic	587781199	RCV000144273;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615906	25615906	NM_130838.1:c.1355dupT	NP_570853.1:p.Ser453Leufs	NC_000015.9:g.25615906dupA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1347_1348delGA (p.Asn450Glnfs)	7337	UBE3A	Pathogenic	587784512	RCV000147864;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615913	25615914	NM_130838.1:c.1347_1348delGA	NP_570853.1:p.Asn450Glnfs	NC_000015.9:g.25615913_25615914delTC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1344A>G (p.Thr448=)	7337	UBE3A	Benign;Likely benign;Uncertain significance	150331504	RCV000144353; RCV000177396;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374	15	25615917	25615917	NM_130838.1:c.1344A>G	NP_570853.1:p.Thr448=	NC_000015.9:g.25615917T>C	-	C0162635 105830 Angelman syndrome; CN169374 not specified
NM_130838.1(UBE3A):c.1304T>C (p.Leu435Pro)	7337	UBE3A	Likely pathogenic	587781242	RCV000144319;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615957	25615957	NM_130838.1:c.1304T>C	NP_570853.1:p.Leu435Pro	NC_000015.9:g.25615957A>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1285G>T (p.Glu429Ter)	7337	UBE3A	Pathogenic	587781198	RCV000144272;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615976	25615976	NM_130838.1:c.1285G>T	NP_570853.1:p.Glu429Ter	NC_000015.9:g.25615976C>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1270G>T (p.Glu424Ter)	7337	UBE3A	Pathogenic	587781197	RCV000144271;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25615991	25615991	NM_130838.1:c.1270G>T	NP_570853.1:p.Glu424Ter	NC_000015.9:g.25615991C>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1249C>T (p.Arg417Ter)	7337	UBE3A	Pathogenic	111033594	RCV000008430;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616012	25616012	NM_130838.1:c.1249C>T	NP_570853.1:p.Arg417Ter	NC_000015.9:g.25616012G>A	OMIM Allelic Variant:601623.0004	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1209C>T (p.Asp403=)	7337	UBE3A	Benign;Likely benign;Uncertain significance	149506027	RCV000144339; RCV000082342;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374	15	25616052	25616052	NM_130838.1:c.1209C>T	NP_570853.1:p.Asp403=	NC_000015.9:g.25616052G>A	-	C0162635 105830 Angelman syndrome; CN169374 not specified
NM_130838.1(UBE3A):c.1201C>T (p.Arg401Ter)	7337	UBE3A	Pathogenic	587781196	RCV000144270;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616060	25616060	NM_130838.1:c.1201C>T	NP_570853.1:p.Arg401Ter	NC_000015.9:g.25616060G>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1132A>C (p.Ile378Leu)	7337	UBE3A	Uncertain significance	200380619	RCV000147862;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616129	25616129	NM_130838.1:c.1132A>C	NP_570853.1:p.Ile378Leu	NC_000015.9:g.25616129T>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1119T>C (p.Asp373=)	7337	UBE3A	Benign;Uncertain significance	143000400	RCV000144338; RCV000126215;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374	15	25616142	25616142	NM_130838.1:c.1119T>C	NP_570853.1:p.Asp373=	NC_000015.9:g.25616142A>G	-	C0162635 105830 Angelman syndrome; CN169374 not specified
NM_130838.1(UBE3A):c.1116A>T (p.Glu372Asp)	7337	UBE3A	Uncertain significance	587784510	RCV000147861;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616145	25616145	NM_130838.1:c.1116A>T	NP_570853.1:p.Glu372Asp	NC_000015.9:g.25616145T>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1114G>T (p.Glu372Ter)	7337	UBE3A	Pathogenic	587781195	RCV000144269;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616147	25616147	NM_130838.1:c.1114G>T	NP_570853.1:p.Glu372Ter	NC_000015.9:g.25616147C>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1110_1113delTGAA (p.Asn370Lysfs)	7337	UBE3A	Pathogenic	587784509	RCV000147860;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616148	25616151	NM_130838.1:c.1110_1113delTGAA	NP_570853.1:p.Asn370Lysfs	NC_000015.9:g.25616148_25616151delTTCA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1090G>T (p.Glu364Ter)	7337	UBE3A	Pathogenic	587784508	RCV000147859;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616171	25616171	NM_130838.1:c.1090G>T	NP_570853.1:p.Glu364Ter	NC_000015.9:g.25616171C>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1076dupA (p.Asn359Lysfs)	7337	UBE3A	Pathogenic	587781194	RCV000144268;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616185	25616185	NM_130838.1:c.1076dupA	NP_570853.1:p.Asn359Lysfs	NC_000015.9:g.25616185dupT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1067dupA (p.Tyr356Terfs)	7337	UBE3A	Pathogenic	587781193	RCV000144267;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616194	25616194	NM_130838.1:c.1067dupA	NP_570853.1:p.Tyr356Terfs	NC_000015.9:g.25616194dupT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.1004G>C (p.Ser335Thr)	7337	UBE3A	Uncertain significance	141984760	RCV000144337;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616257	25616257	NM_130838.1:c.1004G>C	NP_570853.1:p.Ser335Thr	NC_000015.9:g.25616257C>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.972_978delTACTTAT (p.Thr325Lysfs)	7337	UBE3A	Pathogenic	587781192	RCV000144266;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616283	25616289	NM_130838.1:c.972_978delTACTTAT	NP_570853.1:p.Thr325Lysfs	NC_000015.9:g.25616283_25616289delATAAGTA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.964C>T (p.Gln322Ter)	7337	UBE3A	Pathogenic	587784534	RCV000147892;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616297	25616297	NM_130838.1:c.964C>T	NP_570853.1:p.Gln322Ter	NC_000015.9:g.25616297G>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.961C>T (p.Gln321Ter)	7337	UBE3A	Pathogenic	587781191	RCV000144265;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616300	25616300	NM_130838.1:c.961C>T	NP_570853.1:p.Gln321Ter	NC_000015.9:g.25616300G>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.855A>G (p.Leu285=)	7337	UBE3A	Uncertain significance	587782923	RCV000144352;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616406	25616406	NM_130838.1:c.855A>G	NP_570853.1:p.Leu285=	NC_000015.9:g.25616406T>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.829G>T (p.Glu277Ter)	7337	UBE3A	Pathogenic	587784533	RCV000147891;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616432	25616432	NM_130838.1:c.829G>T	NP_570853.1:p.Glu277Ter	NC_000015.9:g.25616432C>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.809A>C (p.Asn270Thr)	7337	UBE3A	Uncertain significance	587782908	RCV000144324;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616452	25616452	NM_130838.1:c.809A>C	NP_570853.1:p.Asn270Thr	NC_000015.9:g.25616452T>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.788T>G (p.Leu263Trp)	7337	UBE3A	Pathogenic	587780583	RCV000144557;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616473	25616473	NM_130838.1:c.788T>G	NP_570853.1:p.Leu263Trp	NC_000015.9:g.25616473A>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.755A>G (p.Asn252Ser)	7337	UBE3A	Uncertain significance	139928148	RCV000144351;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616506	25616506	NM_130838.1:c.755A>G	NP_570853.1:p.Asn252Ser	NC_000015.9:g.25616506T>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.750T>A (p.Tyr250Ter)	7337	UBE3A	Pathogenic	587781190	RCV000144264;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616511	25616511	NM_130838.1:c.750T>A	NP_570853.1:p.Tyr250Ter	NC_000015.9:g.25616511A>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.717T>A (p.Tyr239Ter)	7337	UBE3A	Pathogenic	587780576	RCV000144549;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616544	25616544	NM_130838.1:c.717T>A	NP_570853.1:p.Tyr239Ter	NC_000015.9:g.25616544A>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.710T>C (p.Leu237Pro)	7337	UBE3A	Pathogenic	587780582	RCV000144556;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616551	25616551	NM_130838.1:c.710T>C	NP_570853.1:p.Leu237Pro	NC_000015.9:g.25616551A>G,NC_000015.9:g.25616551A>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.710T>A (p.Leu237His)	7337	UBE3A	Likely pathogenic	587780582	RCV000144318;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616551	25616551	NM_130838.1:c.710T>A	NP_570853.1:p.Leu237His	NC_000015.9:g.25616551A>G,NC_000015.9:g.25616551A>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.688G>T (p.Glu230Ter)	7337	UBE3A	Pathogenic	587780575	RCV000144548;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616573	25616573	NM_130838.1:c.688G>T	NP_570853.1:p.Glu230Ter	NC_000015.9:g.25616573C>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.635A>T (p.Asp212Val)	7337	UBE3A	Pathogenic	587780581	RCV000144555;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616626	25616626	NM_130838.1:c.635A>T	NP_570853.1:p.Asp212Val	NC_000015.9:g.25616626T>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.611T>C (p.Leu204Ser)	7337	UBE3A	Uncertain significance	587782922	RCV000144350; RCV000194329;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374	15	25616650	25616650	NM_130838.1:c.611T>C	NP_570853.1:p.Leu204Ser	NC_000015.9:g.25616650A>G	-	C0162635 105830 Angelman syndrome; CN169374 not specified
NM_130838.1(UBE3A):c.580dupA (p.Ser194Lysfs)	7337	UBE3A	Pathogenic	587780574	RCV000144547;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616681	25616681	NM_130838.1:c.580dupA	NP_570853.1:p.Ser194Lysfs	NC_000015.9:g.25616681dupT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.558A>T (p.Ala186=)	7337	UBE3A	Benign;Uncertain significance	143484751	RCV000144336; RCV000126214;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374	15	25616703	25616703	NM_130838.1:c.558A>T	NP_570853.1:p.Ala186=	NC_000015.9:g.25616703T>A	-	C0162635 105830 Angelman syndrome; CN169374 not specified
NM_130838.1(UBE3A):c.547delG (p.Asp183Thrfs)	7337	UBE3A	Pathogenic	587780573	RCV000144546;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616714	25616714	NM_130838.1:c.547delG	NP_570853.1:p.Asp183Thrfs	NC_000015.9:g.25616714delC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.505_511delGAAAAGG (p.Glu169Lysfs)	7337	UBE3A	Pathogenic	587784532	RCV000147889;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616750	25616756	NM_130838.1:c.505_511delGAAAAGG	NP_570853.1:p.Glu169Lysfs	NC_000015.9:g.25616750_25616756delCCTTTTC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.486_487insCT (p.Glu163Leufs)	7337	UBE3A	Pathogenic	786200996	RCV000177395; RCV000154108;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN221809	15	25616774	25616775	NM_130838.1:c.486_487insCT	NP_570853.1:p.Glu163Leufs	NC_000015.9:g.25616774_25616775insAG	-	C0162635 105830 Angelman syndrome; CN221809 not provided
NM_130838.1(UBE3A):c.417A>T (p.Ala139=)	7337	UBE3A	Benign;Uncertain significance	28528079	RCV000144349; RCV000082350;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374	15	25616844	25616844	NM_130838.1:c.417A>T	NP_570853.1:p.Ala139=	NC_000015.9:g.25616844T>A	-	C0162635 105830 Angelman syndrome; CN169374 not specified
NM_130838.1(UBE3A):c.403dupT (p.Ser135Phefs)	7337	UBE3A	Pathogenic	587780572	RCV000144545;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616858	25616858	NM_130838.1:c.403dupT	NP_570853.1:p.Ser135Phefs	NC_000015.9:g.25616858dupA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.388_399delATTGGAAGAGTT (p.Ile130_Val133del)	7337	UBE3A	Likely pathogenic	587784531	RCV000147888;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616862	25616873	NM_130838.1:c.388_399delATTGGAAGAGTT	NP_570853.1:p.Ile130_Val133del	NC_000015.9:g.25616862_25616873delAACTCTTCCAAT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.398T>G (p.Val133Gly)	7337	UBE3A	Uncertain significance	587782915	RCV000144335;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616863	25616863	NM_130838.1:c.398T>G	NP_570853.1:p.Val133Gly	NC_000015.9:g.25616863A>C	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.389T>C (p.Ile130Thr)	7337	UBE3A	Pathogenic	111033597	RCV000008433;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616872	25616872	NM_130838.1:c.389T>C	NP_570853.1:p.Ile130Thr	NC_000015.9:g.25616872A>G	OMIM Allelic Variant:601623.0007	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.380delT (p.Ile127Thrfs)	7337	UBE3A	Pathogenic	587784530	RCV000147887;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616881	25616881	NM_130838.1:c.380delT	NP_570853.1:p.Ile127Thrfs	NC_000015.9:g.25616881delA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.362_363delAG (p.Glu121Glyfs)	7337	UBE3A	Pathogenic	587780571	RCV000144544;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616898	25616899	NM_130838.1:c.362_363delAG	NP_570853.1:p.Glu121Glyfs	NC_000015.9:g.25616898_25616899delCT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.349T>C (p.Cys117Arg)	7337	UBE3A	Uncertain significance	587782907	RCV000144323;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616912	25616912	NM_130838.1:c.349T>C	NP_570853.1:p.Cys117Arg	NC_000015.9:g.25616912A>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.317_321delCAGAA (p.Thr106Argfs)	7337	UBE3A	Pathogenic	587784529	RCV000147886;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616940	25616944	NM_130838.1:c.317_321delCAGAA	NP_570853.1:p.Thr106Argfs	NC_000015.9:g.25616940_25616944delTTCTG	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.317C>A (p.Thr106Lys)	7337	UBE3A	Likely pathogenic;Pathogenic	587781241	RCV000144317;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616944	25616944	NM_130838.1:c.317C>A	NP_570853.1:p.Thr106Lys	NC_000015.9:g.25616944G>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.316A>C (p.Thr106Pro)	7337	UBE3A	Pathogenic	111033596	RCV000008432;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616945	25616945	NM_130838.1:c.316A>C	NP_570853.1:p.Thr106Pro	NC_000015.9:g.25616945T>G	OMIM Allelic Variant:601623.0006	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.312_315delCTTA (p.Tyr104Terfs)	7337	UBE3A	Pathogenic	587780570	RCV000144543;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616946	25616949	NM_130838.1:c.312_315delCTTA	NP_570853.1:p.Tyr104Terfs	NC_000015.9:g.25616946_25616949delTAAG	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.313T>C (p.Leu105=)	7337	UBE3A	Benign;Uncertain significance	61734190	RCV000144348; RCV000082349;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004; MedGen:CN169374	15	25616948	25616948	NM_130838.1:c.313T>C	NP_570853.1:p.Leu105=	NC_000015.9:g.25616948A>G	-	C0162635 105830 Angelman syndrome; CN169374 not specified
NM_130838.1(UBE3A):c.302-2A>T	7337	UBE3A	Pathogenic	587780578	RCV000144551;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25616961	25616961	NM_130838.1:c.302-2A>T		NC_000015.9:g.25616961T>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.301+30G>A	7337	UBE3A	Uncertain significance	367646993	RCV000144334;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25620582	25620582	NM_130838.1:c.301+30G>A		NC_000015.9:g.25620582C>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.301+29T>C	7337	UBE3A	Uncertain significance	587782914	RCV000144333;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25620583	25620583	NM_130838.1:c.301+29T>C		NC_000015.9:g.25620583A>G	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.277_280delAAAG (p.Lys93Alafs)	7337	UBE3A	Pathogenic	587780569	RCV000144542;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25620633	25620636	NM_130838.1:c.277_280delAAAG	NP_570853.1:p.Lys93Alafs	NC_000015.9:g.25620633_25620636delCTTT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.275dupA (p.Lys93Glufs)	7337	UBE3A	Pathogenic	587780568	RCV000144541;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25620638	25620638	NM_130838.1:c.275dupA	NP_570853.1:p.Lys93Glufs	NC_000015.9:g.25620638dupT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.263_264delTA (p.Ile88Lysfs)	7337	UBE3A	Pathogenic	587780567	RCV000144540;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25620649	25620650	NM_130838.1:c.263_264delTA	NP_570853.1:p.Ile88Lysfs	NC_000015.9:g.25620649_25620650delTA	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.199_202dupAAAG (p.Gly68Glufs)	7337	UBE3A	Pathogenic	587780566	RCV000144539;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25620711	25620714	NM_130838.1:c.199_202dupAAAG	NP_570853.1:p.Gly68Glufs	NC_000015.9:g.25620711_25620714dupCTTT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.99delC (p.Cys34Valfs)	7337	UBE3A	Pathogenic	587780565	RCV000144538;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25620814	25620814	NM_130838.1:c.99delC	NP_570853.1:p.Cys34Valfs	NC_000015.9:g.25620814delG	-	C0162635 105830 Angelman syndrome
NM_000462.3(UBE3A):c.128G>T (p.Gly43Val)	7337	UBE3A	Pathogenic	864309506	RCV000202457;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25620854	25620854	NM_000462.3:c.128G>T	NP_000453.2:p.Gly43Val	NC_000015.9:g.25620854C>A	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.3-19_3-17delGTT	7337	UBE3A	Uncertain significance	587782921	RCV000144347;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25620927	25620929	NM_130838.1:c.3-19_3-17delGTT		NC_000015.9:g.25620927_25620929delAAC	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2+20G>A	7337	UBE3A	Uncertain significance	587782906	RCV000144322;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25650588	25650588	NM_130838.1:c.2+20G>A		NC_000015.9:g.25650588C>T	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2+1_2+2insAA	7337	UBE3A	Pathogenic	797046084	RCV000194951;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25650606	25650607	NM_130838.1:c.2+1_2+2insAA		NC_000015.9:g.25650606_25650607insTT	-	C0162635 105830 Angelman syndrome
NM_130838.1(UBE3A):c.2T>C (p.Met1Thr)	7337	UBE3A	Likely pathogenic;Pathogenic	587780577	RCV000144550;	N	MedGen:C0162635,OMIM:105830,ORPHA:72,SNOMED CT:76880004	15	25650608	25650608	NM_130838.1:c.2T>C	NP_570853.1:p.Met1Thr	NC_000015.9:g.25650608A>G	-	C0162635 105830 Angelman syndrome