Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter)	SNV Germline	Chr15:25370865	Pathogenic	Angelman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA325619		4 SubmittersRCV000008430
NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter)	SNV Germline	Chr15:25340219	Pathogenic	Angelman syndrome	Reviewed By Expert Panel	CA325622	rs_111033595	3 SubmittersRCV000008431
NM_130839.5(UBE3A):c.376A>C (p.Thr126Pro)	SNV Germline	Chr15:25371798	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA325625	rs_111033596	1 SubmittersRCV000008432
NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr)	SNV Germline	Chr15:25371725	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA325628	rs_111033597	1 SubmittersRCV000008433
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)	SNV Germline	ChrX:18628374	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications	CA121519	rs_122460158	4 SubmittersRCV000012255 RCV000133352 RCV003764559
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)	SNV Germline	ChrX:18564496	Pathogenic	Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome Angelman syndrome-like Developmental and epileptic encephalopathy, 2 CDKL5 disorder Condition: not provided	Reviewed By Expert Panel	CA121521	rs_122460159	6 SubmittersRCV000012257 RCV000133317 RCV000699210 RCV001507073 RCV001564884
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)	SNV Germline	ChrX:18575423	Pathogenic	Developmental and epileptic encephalopathy, 2 Condition: not provided Rett syndrome CDKL5 disorder Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Reviewed By Expert Panel	CA121523	rs_62641235	6 SubmittersRCV000012258 RCV000080068 RCV000169913 RCV001507029 RCV001385703
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	SNV Germline	ChrX:154031431	Pathogenic	Rett syndrome, zappella variant Condition: not provided Rett syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome Angelman syndrome Severe neonatal-onset encephalopathy with microcephaly not specified Inborn genetic diseases Neurodevelopmental delay Intellectual disability Syndromic X-linked intellectual disability Lubs type	Reviewed By Expert Panel	CA211250	rs_28934904	43 SubmittersRCV000012578 RCV000081202 RCV000030666 RCV000170107 RCV000169934 RCV000460141 RCV000445570 RCV000624907 RCV002273925 RCV001257757 RCV003984804
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	SNV Germline	ChrX:154031355	Pathogenic/Likely pathogenic	Rett syndrome Condition: not provided Severe neonatal-onset encephalopathy with microcephaly Autism, susceptibility to, X-linked 3 Angelman syndrome Inborn genetic diseases Syndromic X-linked intellectual disability Lubs type Autism, susceptibility to, X-linked 3 X-linked intellectual disability-psychosis-macroorchidism syndrome Rett syndrome Severe neonatal-onset encephalopathy with microcephaly Abnormality of the nervous system X-linked intellectual disability-psychosis-macroorchidism syndrome Neurodevelopmental delay Syndromic X-linked intellectual disability Lubs type MECP2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA211252	rs_28934906	49 SubmittersRCV000012580 RCV000133129 RCV000170110 RCV000169935 RCV000170109 RCV000623451 RCV000763199 RCV001813975 RCV002247328 RCV002273926 RCV003984805 RCV004540995
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	SNV Germline	ChrX:154030912	Pathogenic	Rett syndrome Condition: not provided Angelman syndrome Intellectual disability Severe neonatal-onset encephalopathy with microcephaly Autism, susceptibility to, X-linked 3 Neurodevelopmental delay See cases Inborn genetic diseases Syndromic X-linked intellectual disability Lubs type Autism, susceptibility to, X-linked 3 X-linked intellectual disability-psychosis-macroorchidism syndrome Rett syndrome Severe neonatal-onset encephalopathy with microcephaly MECP2-related disorder	Reviewed By Expert Panel	CA212529	rs_28935468	46 SubmittersRCV000012597 RCV000081218 RCV000202468 RCV000224156 RCV000466020 RCV001841244 RCV002273927 RCV002287332 RCV002444428 RCV003224093 RCV004532325
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)	SNV Germline	ChrX:154031405	Pathogenic	Atypical Rett syndrome Angelman syndrome Rett syndrome Condition: not provided Inborn genetic diseases Severe neonatal-onset encephalopathy with microcephaly	Criteria Provided Multiple Submitters No Conflicts	CA121710	rs_61748396	14 SubmittersRCV000012606 RCV000133106 RCV000170108 RCV000729616 RCV000623504 RCV001049210
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro)	SNV Germline	ChrX:18584332	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter	CA121529	rs_267606715	3 SubmittersRCV000012262 RCV001035195
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)	SNV Germline	ChrX:18584332	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like West syndrome CDKL5 disorder	Reviewed By Expert Panel	CA199289	rs_267606715	11 SubmittersRCV000080074 RCV000169920 RCV001201864 RCV003488377 RCV001507061
NM_130839.5(UBE3A):c.748G>T (p.Glu250Ter)	SNV Germline	Chr15:25371426	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333466	rs_587780575	1 SubmittersRCV000144548
NM_130839.5(UBE3A):c.777T>A (p.Tyr259Ter)	SNV Germline	Chr15:25371397	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333469	rs_587780576	1 SubmittersRCV000144549
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr)	SNV Germline	Chr15:25405461	Pathogenic	Angelman syndrome Condition: not provided	Reviewed By Expert Panel	CA333472	rs_587780577	3 SubmittersRCV000144550 RCV000724262
NM_130839.5(UBE3A):c.362-2A>T	SNV Germline	Chr15:25371814	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333475	rs_587780578	1 SubmittersRCV000144551
NM_130839.5(UBE3A):c.1754-2A>G	SNV Germline	Chr15:25356898	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333476	rs_587780579	1 SubmittersRCV000144552
NM_130839.5(UBE3A):c.2125-2A>C	SNV Germline	Chr15:25354685	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333477	rs_587780580	1 SubmittersRCV000144553
NM_130839.5(UBE3A):c.2618A>T (p.Ter873Leu)	SNV Germline	Chr15:25339138	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333478	rs_76794400	1 SubmittersRCV000144554
NM_130839.5(UBE3A):c.695A>T (p.Asp232Val)	SNV Germline	Chr15:25371479	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333481	rs_587780581	1 SubmittersRCV000144555
NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro)	SNV Germline	Chr15:25371404	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333484	rs_587780582	2 SubmittersRCV000144556
NM_130839.5(UBE3A):c.848T>G (p.Leu283Trp)	SNV Germline	Chr15:25371326	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333487	rs_587780583	1 SubmittersRCV000144557
NM_130839.5(UBE3A):c.1433C>T (p.Pro478Leu)	SNV Germline	Chr15:25370741	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333490	rs_587780584	1 SubmittersRCV000144558
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)	SNV Germline	ChrX:154032282	Pathogenic	Angelman syndrome Rett syndrome Severe neonatal-onset encephalopathy with microcephaly	Reviewed By Expert Panel	CA274626	rs_61754453	5 SubmittersRCV000133058 RCV000170238 RCV001857483
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)	SNV Germline	ChrX:18604572	Pathogenic	Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome Condition: not provided Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts	CA199285	rs_267608643	8 SubmittersRCV000170009 RCV000169916 RCV000133327 RCV001244788
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)	SNV Germline/somatic	ChrX:18604599	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 2 Condition: not provided Atypical Rett syndrome Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts	CA171614	rs_267608395	9 SubmittersRCV000145521 RCV000133328 RCV000169917 RCV000694251
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)	SNV Germline	ChrX:18575383	Pathogenic	Atypical Rett syndrome Developmental and epileptic encephalopathy, 2 Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like CDKL5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA171618	rs_62653623	6 SubmittersRCV000170010 RCV000145523 RCV000711154 RCV001385702 RCV004532618
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)	SNV Germline	ChrX:18575407	Conflicting classifications of pathogenicity	Rett syndrome Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications	CA170464	rs_267608437	3 SubmittersRCV000133338 RCV000145527 RCV001849962
NM_000330.4(RS1):c.326+1131G>A	SNV Germline	ChrX:18646060	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications	CA170481	rs_267608664	3 SubmittersRCV000133358 RCV001089711 RCV002055856
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)	SNV Germline	ChrX:18579945	Pathogenic	Condition: not provided Atypical Rett syndrome Developmental and epileptic encephalopathy, 2 Angelman syndrome-like CDKL5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA199281	rs_267608468	6 SubmittersRCV000133366 RCV000169914 RCV001071921 RCV004528868
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter)	SNV Germline	ChrX:18579965	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Multiple Submitters No Conflicts	CA199287	rs_267608472	3 SubmittersRCV000133368 RCV000169919 RCV001849964
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)	SNV Germline	ChrX:18584312	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 2 CDKL5 disorder Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Reviewed By Expert Panel	CA171644	rs_267608490	5 SubmittersRCV000133371 RCV000145541 RCV001507047 RCV003764877
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)	SNV Germline	ChrX:18584331	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome Angelman syndrome-like Developmental and epileptic encephalopathy, 2 Intellectual disability Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA199283	rs_267608493	9 SubmittersRCV000133373 RCV000169915 RCV000169986 RCV000544362 RCV001260657 RCV002345449
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)	SNV Germline	ChrX:18587986	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 2 Epileptic encephalopathy Condition: not provided Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts	CA171650	rs_267608501	11 SubmittersRCV000145544 RCV000416982 RCV000431821 RCV000812193
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)	SNV Germline	ChrX:18507154	Pathogenic	Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter	CA170496	rs_267608418	2 SubmittersRCV000133379 RCV002515935
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro)	SNV Germline	ChrX:18588058	Pathogenic	Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter	CA170500	rs_267608511	2 SubmittersRCV000133381 RCV000640488
NM_130839.5(UBE3A):c.810T>A (p.Tyr270Ter)	SNV Germline	Chr15:25371364	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333294	rs_587781190	1 SubmittersRCV000144264
NM_130839.5(UBE3A):c.1021C>T (p.Gln341Ter)	SNV Germline	Chr15:25371153	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333297	rs_587781191	1 SubmittersRCV000144265
NM_130839.5(UBE3A):c.1174G>T (p.Glu392Ter)	SNV Germline	Chr15:25371000	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333303	rs_587781195	1 SubmittersRCV000144269
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter)	SNV Germline	Chr15:25370913	Pathogenic	Angelman syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA333306	rs_587781196	3 SubmittersRCV000144270 RCV000623493 RCV003313042
NM_130839.5(UBE3A):c.1330G>T (p.Glu444Ter)	SNV Germline	Chr15:25370844	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333309	rs_587781197	1 SubmittersRCV000144271
NM_130839.5(UBE3A):c.1345G>T (p.Glu449Ter)	SNV Germline	Chr15:25370829	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333312	rs_587781198	1 SubmittersRCV000144272
NM_130839.5(UBE3A):c.1431T>A (p.Cys477Ter)	SNV Germline	Chr15:25370743	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333317	rs_587781201	1 SubmittersRCV000144275
NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter)	SNV Germline	Chr15:25356860	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333326	rs_587781208	2 SubmittersRCV000144282
NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter)	SNV Germline	Chr15:25355984	Pathogenic	Angelman syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA333333	rs_587781213	3 SubmittersRCV000144287 RCV003318554
NM_130839.5(UBE3A):c.2237T>A (p.Leu746Ter)	SNV Germline	Chr15:25354571	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333339	rs_587781217	1 SubmittersRCV000144291
NM_130839.5(UBE3A):c.2293C>T (p.Gln765Ter)	SNV Germline	Chr15:25354414	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333343	rs_587781219	1 SubmittersRCV000144293
NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter)	SNV Germline	Chr15:25354402	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333346	rs_587781220	2 SubmittersRCV000144294
NM_130839.5(UBE3A):c.2534T>A (p.Leu845Ter)	SNV Germline	Chr15:25339222	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333355	rs_587781226	1 SubmittersRCV000144301
NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter)	SNV Germline	Chr15:25339207	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333360	rs_587781228	2 SubmittersRCV000144304
NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg)	SNV Germline	Chr15:25360443	Likely pathogenic	Angelman syndrome Inborn genetic diseases	Criteria Provided Single Submitter	CA333366	rs_587781233	2 SubmittersRCV000144309 RCV000622521
NM_130839.5(UBE3A):c.1810G>C (p.Glu604Gln)	SNV Germline	Chr15:25356840	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333372	rs_587781235	1 SubmittersRCV000144311
NM_130839.5(UBE3A):c.2027C>T (p.Thr676Ile)	SNV Germline	Chr15:25355989	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333375	rs_587781236	1 SubmittersRCV000144312
NM_130839.5(UBE3A):c.2129T>G (p.Phe710Cys)	SNV Germline	Chr15:25354679	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333378	rs_587781237	1 SubmittersRCV000144313
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)	SNV Germline	Chr15:25339216	Pathogenic/Likely pathogenic	Angelman syndrome Neurodevelopmental disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA333384	rs_587781239	5 SubmittersRCV000144315 RCV003389042 RCV002514772
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys)	SNV Germline	Chr15:25371797	Pathogenic	Angelman syndrome	Reviewed By Expert Panel	CA333390	rs_587781241	3 SubmittersRCV000144317
NM_130839.5(UBE3A):c.770T>A (p.Leu257His)	SNV Germline	Chr15:25371404	Likely pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333393	rs_587780582	1 SubmittersRCV000144318
NM_130839.5(UBE3A):c.1364T>C (p.Leu455Pro)	SNV Germline	Chr15:25370810	Likely pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333396	rs_587781242	1 SubmittersRCV000144319
NM_130839.5(UBE3A):c.1490G>C (p.Arg497Pro)	SNV Germline	Chr15:25370684	Likely pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333399	rs_587781243	1 SubmittersRCV000144320
NM_130839.5(UBE3A):c.1757T>A (p.Met586Lys)	SNV Germline	Chr15:25356893	Likely pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA333402	rs_587781244	1 SubmittersRCV000144321
NM_001323289.2(CDKL5):c.100-2A>G	SNV Germline	ChrX:18564475	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter	CA199372	rs_267608423	2 SubmittersRCV000144120 RCV000169990 RCV001046060
NM_001323289.2(CDKL5):c.2047-1G>A	SNV Germline	ChrX:18609464	Pathogenic	Atypical Rett syndrome Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter	CA199386	rs_267608650	3 SubmittersRCV000170016 RCV000144124 RCV001385706 RCV001849177
NM_001323289.2(CDKL5):c.463+1G>A	SNV Germline	ChrX:18581951	Pathogenic	Condition: not provided Atypical Rett syndrome Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter	CA199404	rs_267608479	2 SubmittersRCV000144135 RCV000170044 RCV002512557
NM_001323289.2(CDKL5):c.404-2A>G	SNV Germline	ChrX:18581889	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Multiple Submitters No Conflicts	CA294596	rs_587783080	2 SubmittersRCV000144742 RCV001215542
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe)	SNV Germline	Chr15:25339193	Likely pathogenic	Condition: not provided Angelman syndrome See cases	Reviewed By Expert Panel	CA294630	rs_587783097	4 SubmittersRCV000144763 RCV000147882 RCV002274930
NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly)	SNV Germline	Chr15:25371762	Conflicting classifications of pathogenicity	Condition: not provided Angelman syndrome	Criteria Provided Conflicting Classifications	CA294642	rs_587783100	2 SubmittersRCV001704063 RCV001857494
NM_001323289.2(CDKL5):c.1636G>A (p.Gly546Arg)	SNV Germline	ChrX:18604560	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like CDKL5-related disorder	Criteria Provided Conflicting Classifications		rs_587783153	2 SubmittersRCV001206862 RCV004532635
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu)	SNV Germline	ChrX:18604645	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA294755	rs_199897804	3 SubmittersRCV000866522 RCV001704064 RCV002399513
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu)	SNV Germline	ChrX:18628558	Conflicting classifications of pathogenicity	Abnormal cerebral morphology not specified Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications		rs_587783157	4 SubmittersRCV002275896 RCV002300674 RCV002466282 RCV003774883
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)	SNV Germline	ChrX:18628470	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts	CA171632	rs_587783158	3 SubmittersRCV000144836 RCV000145534 RCV002515946
NM_000330.4(RS1):c.184+3194A>G	SNV Germline	ChrX:18653459	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 2 Angelman syndrome-like CDKL5-related disorder	Criteria Provided Conflicting Classifications	CA171642	rs_587783162	4 SubmittersRCV000145540 RCV002055867 RCV004532636
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp)	SNV Germline	Chr15:25339147	Conflicting classifications of pathogenicity	Angelman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA235190	rs_587784528	3 SubmittersRCV000147884 RCV000154106
NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His)	SNV Germline	Chr15:25339211	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333549	rs_587784526	1 SubmittersRCV000147881
NM_130839.5(UBE3A):c.2131G>A (p.Val711Ile)	SNV Germline	Chr15:25354677	Conflicting classifications of pathogenicity	not specified Angelman syndrome	Criteria Provided Conflicting Classifications	CA173808	rs_587784524	2 SubmittersRCV000147878 RCV003619649
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp)	SNV Germline	Chr15:25355930	Conflicting classifications of pathogenicity	not specified Angelman syndrome	Criteria Provided Conflicting Classifications	CA173805	rs_587784523	2 SubmittersRCV000147877 RCV001850008
NM_130839.5(UBE3A):c.1823A>G (p.Gln608Arg)	SNV Germline	Chr15:25356827	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333539	rs_587782919	1 SubmittersRCV000147873
NM_130839.5(UBE3A):c.1748A>G (p.Asp583Gly)	SNV Germline	Chr15:25360388	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333534	rs_587784518	1 SubmittersRCV000147870
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser)	SNV Germline	Chr15:25360394	Conflicting classifications of pathogenicity	Angelman syndrome	Criteria Provided Conflicting Classifications	CA333531	rs_587784517	2 SubmittersRCV000147869
NM_130839.5(UBE3A):c.1694G>A (p.Gly565Glu)	SNV Germline	Chr15:25360442	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333528	rs_587784516	1 SubmittersRCV000147868
NM_130839.5(UBE3A):c.1659T>A (p.Tyr553Ter)	SNV Germline	Chr15:25360477	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333525	rs_587784515	1 SubmittersRCV000147867
NM_130839.5(UBE3A):c.1627G>T (p.Glu543Ter)	SNV Germline	Chr15:25360509	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333522	rs_587784514	1 SubmittersRCV000147866
NM_130839.5(UBE3A):c.1150G>T (p.Glu384Ter)	SNV Germline	Chr15:25371024	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333510	rs_587784508	1 SubmittersRCV000147859
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter)	SNV Germline	Chr15:25371150	Pathogenic/Likely pathogenic	Angelman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA333562	rs_587784534	2 SubmittersRCV000147892
NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter)	SNV Germline	Chr15:25371285	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter	CA333559	rs_587784533	1 SubmittersRCV000147891
NM_130839.5(UBE3A):c.328A>G (p.Met110Val)	SNV Germline	Chr15:25375498	Conflicting classifications of pathogenicity	not specified Angelman syndrome	Criteria Provided Conflicting Classifications	CA173818	rs_369853017	2 SubmittersRCV000147885 RCV001850009
NM_130839.5(UBE3A):c.176G>A (p.Arg59His)	SNV Germline	Chr15:25375650	Conflicting classifications of pathogenicity	not specified Angelman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA173802	rs_587784511	3 SubmittersRCV000147863 RCV001762327 RCV003237745
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=)	SNV Germline	ChrX:18613264	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications	CA233655	rs_727503846	2 SubmittersRCV000152958 RCV002056022
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp)	SNV Germline	ChrX:18507155	Likely pathogenic	Condition: not provided Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter	CA235605	rs_786204962	2 SubmittersRCV000169987 RCV001850412
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys)	SNV Germline	ChrX:18584327	Pathogenic	Atypical Rett syndrome Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter	CA199411	rs_786204989	2 SubmittersRCV000170050 RCV001850413
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter)	SNV Germline	ChrX:18604299	Pathogenic	Atypical Rett syndrome Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter	CA199377	rs_786204969	2 SubmittersRCV000169996 RCV003765058
NM_001323289.2(CDKL5):c.2046+1G>A	SNV Germline	ChrX:18608913	Pathogenic	Atypical Rett syndrome Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter	CA199385	rs_786204976	2 SubmittersRCV000170015 RCV000536060
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val)	SNV Germline	ChrX:18584269	Likely pathogenic	not specified Condition: not provided Angelman syndrome-like Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 CDKL5 disorder	Reviewed By Expert Panel	CA279171	rs_863225066	6 SubmittersRCV000201271 RCV000487793 RCV001857739 RCV002470811 RCV003235124
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)	SNV Germline	Chr11:6617627	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Angelman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA319165	rs_756564767	10 SubmittersRCV000189759 RCV000763269 RCV000792396 RCV001004372 RCV001804926
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=)	SNV Germline	ChrX:18613214	Conflicting classifications of pathogenicity	not specified Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Conflicting Classifications	CA205703	rs_747554139	2 SubmittersRCV000192702 RCV003765215
NM_130839.5(UBE3A):c.119G>T (p.Gly40Val)	SNV Germline	Chr15:25375707	Pathogenic	Angelman syndrome	No Assertion Criteria Provided	CA339616	rs_864309506	1 SubmittersRCV000202457
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=)	SNV Germline	ChrX:18609569	Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like CDKL5 disorder	Reviewed By Expert Panel	CA10605540	rs_886043453	4 SubmittersRCV000402438 RCV001379966 RCV003235178
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter)	SNV Germline	ChrX:18603930	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Multiple Submitters No Conflicts	CA16043206	rs_1057518203	2 SubmittersRCV000413039 RCV000807507
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His)	SNV Germline	ChrX:18628447	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications	CA10360568	rs_759083770	2 SubmittersRCV000422464 RCV001203724
NM_001323289.2(CDKL5):c.826-2A>G	SNV Germline	ChrX:18598460	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter	CA16616641	rs_1060501859	1 SubmittersRCV000474894
NM_130839.5(UBE3A):c.2125-1G>A	SNV Germline	Chr15:25354684	Likely pathogenic	Condition: not provided Angelman syndrome	Reviewed By Expert Panel	CA16619904	rs_1064795001	2 SubmittersRCV000486030 RCV001507065
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His)	SNV Germline	Chr15:25370597	Likely pathogenic	Condition: not provided Angelman syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA16619906	rs_1064795012	4 SubmittersRCV000483765 RCV000989273 RCV001266187
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys)	SNV Germline	Chr15:25370598	Likely pathogenic	Condition: not provided Angelman syndrome UBE3A-related disorder	Reviewed By Expert Panel	CA16619907	rs_1064793307	6 SubmittersRCV000478539 RCV000690582 RCV003900014
NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys)	SNV Germline	ChrX:18598490	Pathogenic/Likely pathogenic	Condition: not provided Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts	CA16621272	rs_1064795672	2 SubmittersRCV000481012 RCV001244046
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys)	SNV Germline	ChrX:18598549	Conflicting classifications of pathogenicity	Condition: not provided Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Conflicting Classifications	CA16621274	rs_1064794671	2 SubmittersRCV000482764 RCV002526585
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala)	SNV Germline	ChrX:18604719	Conflicting classifications of pathogenicity	Condition: not provided Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Conflicting Classifications	CA16621280	rs_761662406	2 SubmittersRCV000484294 RCV001312883
NM_001323289.2(CDKL5):c.1945-5T>C	SNV Germline	ChrX:18608806	Conflicting classifications of pathogenicity	Condition: not provided Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Conflicting Classifications	CA16621281	rs_1064796245	2 SubmittersRCV000479946 RCV001227597
NM_000330.4(RS1):c.185-3161G>C	SNV Germline	ChrX:18650493	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications	CA16621287	rs_1064794669	2 SubmittersRCV000487199 RCV003766683
NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys)	SNV Germline	ChrX:18628446	Conflicting classifications of pathogenicity	Condition: not provided Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Conflicting Classifications	CA10360567	rs_773760466	2 SubmittersRCV000489788 RCV002063831
NM_130839.5(UBE3A):c.1754-4A>G	SNV Germline	Chr15:25356900	Conflicting classifications of pathogenicity	not specified Angelman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7435487	rs_780429591	3 SubmittersRCV000503675 RCV001205261 RCV001662501
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter)	SNV Germline	Chr15:25370670	Pathogenic	Condition: not provided Angelman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA391353439	rs_1555399937	3 SubmittersRCV000514203 RCV001044278
NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter)	SNV Germline	Chr15:25375759	Pathogenic	Condition: not provided Angelman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA391356714	rs_1490279918	2 SubmittersRCV000523070 RCV002248757
NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter)	SNV Germline	ChrX:18604170	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter	CA412360098	rs_1555951991	1 SubmittersRCV000560461
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter)	SNV Germline	ChrX:18604443	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter	CA412361346	rs_1555952052	2 SubmittersRCV000535244 RCV003326138
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter)	SNV Germline	ChrX:18619935	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412363752	rs_1555954074	2 SubmittersRCV000548702 RCV001567324
NM_130839.5(UBE3A):c.1609-11T>C	SNV Germline	Chr15:25360538	Conflicting classifications of pathogenicity	Condition: not provided Angelman syndrome	Criteria Provided Conflicting Classifications	CA658683883	rs_1555393315	2 SubmittersRCV000578506 RCV002060550
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter)	SNV Germline	ChrX:18595389	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts	CA412355012	rs_1555951146	3 SubmittersRCV000579245 RCV001047013 RCV002470915
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr)	SNV Germline	ChrX:18581942	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts	CA412351052	rs_122460157	2 SubmittersRCV000585869 RCV002530871
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr)	SNV Germline	ChrX:18588015	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications	CA412353277	rs_1555950468	2 SubmittersRCV000585875 RCV003767322
NM_000330.4(RS1):c.185-3221G>C	SNV Germline	ChrX:18650553	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Condition: not provided Developmental and epileptic encephalopathy, 2	Criteria Provided Conflicting Classifications	CA327013112	rs_374054249	4 SubmittersRCV000640487 RCV001698072 RCV003144390
NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter)	SNV Germline	Chr6:142760353	Pathogenic	Condition: not provided Angelman syndrome-like Intellectual disability, autosomal dominant 43	Criteria Provided Multiple Submitters No Conflicts	CA365888263	rs_1554275163	3 SubmittersRCV000627217 RCV000852329 RCV001265390
NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter)	SNV Germline	ChrX:18584307	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter	CA412352360	rs_1555950066	1 SubmittersRCV000640483
NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter)	SNV Germline	Chr15:25370967	Pathogenic	Condition: not provided Angelman syndrome	Reviewed By Expert Panel		rs_1555400239	2 SubmittersRCV000658116 RCV001507035
NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile)	SNV Germline	ChrX:18604268	Conflicting classifications of pathogenicity	West syndrome Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Conflicting Classifications		rs_1555952013	2 SubmittersRCV000659288 RCV002536338
NM_130839.5(UBE3A):c.1696G>A (p.Gly566Ser)	SNV Unknown	Chr15:25360440	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_1555393242	1 SubmittersRCV000677659
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter)	SNV Germline	ChrX:18598504	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts		rs_1569218019	2 SubmittersRCV000679944 RCV001229805
NM_001323289.2(CDKL5):c.282+1G>T	SNV Germline	ChrX:18575491	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_1569213054	1 SubmittersRCV000705991
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly)	SNV Germline	ChrX:18587982	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_1569215594	1 SubmittersRCV000687369
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu)	SNV Germline	ChrX:18588037	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_1569215629	1 SubmittersRCV000699805
NM_130839.5(UBE3A):c.854T>C (p.Ile285Thr)	SNV Germline	Chr15:25371320	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_1566959617	1 SubmittersRCV000699666
NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter)	SNV Germline	Chr15:25371548	Pathogenic	Condition: not provided Angelman syndrome	Reviewed By Expert Panel		rs_1566961418	2 SubmittersRCV000760659 RCV001507036
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp)	SNV Germline	ChrX:18507149	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_1602230515	1 SubmittersRCV000816804
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg)	SNV Germline	ChrX:18581941	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Developmental and epileptic encephalopathy, 2 CDKL5 disorder	Reviewed By Expert Panel		rs_1602272932	3 SubmittersRCV000815876 RCV001336019 RCV003235409
NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter)	SNV Germline	ChrX:18619935	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_1555954074	1 SubmittersRCV000819555
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)	SNV Germline	ChrX:18625159	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Conflicting Classifications		rs_1005844306	2 SubmittersRCV000796038 RCV001198372
NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg)	SNV Germline	ChrX:18625177	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1602298609	2 SubmittersRCV000801876 RCV004028078
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter)	SNV Germline	ChrX:18628659	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_1602300816	1 SubmittersRCV000803646
NM_130839.5(UBE3A):c.211G>T (p.Glu71Ter)	SNV Unknown	Chr15:25375615	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_1207660411	1 SubmittersRCV000853580
NM_130839.5(UBE3A):c.2198G>T (p.Gly733Val)	SNV Unknown	Chr15:25354610	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_1595572384	1 SubmittersRCV000989271
NM_130839.5(UBE3A):c.1976T>G (p.Leu659Ter)	SNV Unknown	Chr15:25356040	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_1595591164	1 SubmittersRCV000989272
NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter)	SNV Germline	Chr15:25371348	Pathogenic	Angelman syndrome Intellectual disability	Criteria Provided Multiple Submitters No Conflicts		rs_997044541	2 SubmittersRCV000989275 RCV001260805
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)	SNV Germline	ChrX:18510820	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like CDKL5 disorder	Reviewed By Expert Panel		rs_1602232972	3 SubmittersRCV000990475 RCV001371944 RCV003235440
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter)	SNV Germline	ChrX:18625231	Pathogenic	Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Multiple Submitters No Conflicts		rs_1602298653	2 SubmittersRCV000990488 RCV002550618
NM_130839.5(UBE3A):c.2273G>A (p.Gly758Glu)	SNV Germline	Chr15:25354535	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter			1 SubmittersRCV001004699
NM_001323289.2(CDKL5):c.2276+1G>A	SNV Germline	ChrX:18613276	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Multiple Submitters No Conflicts		rs_1602292181	2 SubmittersRCV001004660 RCV001860565
NM_130839.5(UBE3A):c.1131T>A (p.Tyr377Ter)	SNV Germline	Chr15:25371043	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2080231132	1 SubmittersRCV001050018
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter)	SNV Germline	Chr15:25371108	Pathogenic	Angelman syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2080238010	4 SubmittersRCV001071345 RCV002051915
NM_130839.5(UBE3A):c.343G>A (p.Ala115Thr)	SNV Germline	Chr15:25375483	Conflicting classifications of pathogenicity	Angelman syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_376815580	2 SubmittersRCV001048073 RCV004031493
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser)	SNV Germline	ChrX:18507154	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_267608418	1 SubmittersRCV001047599
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly)	SNV Germline	ChrX:18564493	Likely pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_1924899673	1 SubmittersRCV001063549
NM_001323289.2(CDKL5):c.154G>T (p.Glu52Ter)	SNV Germline	ChrX:18575362	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_1925261282	1 SubmittersRCV001067845
NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met)	SNV Germline	ChrX:18581895	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_1310022305	1 SubmittersRCV001062625
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys)	SNV Germline	ChrX:18581907	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_1925492808	1 SubmittersRCV001058028
NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly)	SNV Germline	ChrX:18588007	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_1925697823	1 SubmittersRCV001041809
NM_001323289.2(CDKL5):c.464-1G>C	SNV Germline	ChrX:18584262	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_786204986	1 SubmittersRCV001035473
NM_001323289.2(CDKL5):c.744+1G>A	SNV Germline	ChrX:18588144	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts		rs_1925705674	2 SubmittersRCV001070396 RCV001089714
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)	SNV Germline	ChrX:18579855	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Developmental and epileptic encephalopathy, 2 CDKL5 disorder	Reviewed By Expert Panel		rs_1925418549	3 SubmittersRCV001089706 RCV001301919 RCV003235465
NM_033223.5(GABRG3):c.1125C>T (p.Asn375=)	SNV Germline	Chr15:27532602	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_1891450501	1 SubmittersRCV001090086
NM_130839.5(UBE3A):c.1609-8A>G	SNV Germline	Chr15:25360535	Conflicting classifications of pathogenicity	Condition: not provided Angelman syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2077891986	3 SubmittersRCV001092400 RCV001807382 RCV002402492
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val)	SNV Germline	ChrX:18507155	Pathogenic	Angelman syndrome Developmental and epileptic encephalopathy, 2 CDKL5 disorder Condition: not provided	Reviewed By Expert Panel		rs_786204962	3 SubmittersRCV001175282 RCV001507056 RCV001819879
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)	SNV Germline	ChrX:18507134	Likely pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 CDKL5 disorder	Reviewed By Expert Panel		rs_1922605766	3 SubmittersRCV001204295 RCV001194616 RCV002281167
NM_130839.5(UBE3A):c.1012G>T (p.Glu338Ter)	SNV Germline	Chr15:25371162	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2080245178	1 SubmittersRCV001221493
NM_001323289.2(CDKL5):c.524G>C (p.Arg175Thr)	SNV Germline	ChrX:18584323	Likely pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_1064794734	1 SubmittersRCV001230939
NM_001323289.2(CDKL5):c.853A>G (p.Arg285Gly)	SNV Germline	ChrX:18598489	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_1926078505	1 SubmittersRCV001227068
NM_001323289.2(CDKL5):c.282+1G>A	SNV Germline	ChrX:18575491	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_1569213054	1 SubmittersRCV001237801
NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr)	SNV Germline	Chr15:25354553	Conflicting classifications of pathogenicity	Intellectual disability Angelman syndrome	Criteria Provided Conflicting Classifications		rs_1312971608	2 SubmittersRCV001260797 RCV003509663
NM_130839.5(UBE3A):c.2033A>G (p.Gln678Arg)	SNV Germline	Chr15:25355983	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2077166492	1 SubmittersRCV001260931
NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp)	SNV Germline	Chr15:25356786	Likely pathogenic	Angelman syndrome	No Assertion Criteria Provided		rs_2077275624	1 SubmittersRCV001264747
NM_130839.5(UBE3A):c.2410C>T (p.Gln804Ter)	SNV Germline	Chr15:25340173	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2074504404	1 SubmittersRCV001265637
NM_001323289.2(CDKL5):c.593G>A (p.Gly198Asp)	SNV Germline	ChrX:18587992	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_1925696959	1 SubmittersRCV001303322
NM_001323289.2(CDKL5):c.554+5G>A	SNV Germline	ChrX:18584358	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_1925577525	1 SubmittersRCV001320410
NM_001323289.2(CDKL5):c.379C>G (p.His127Asp)	SNV Germline	ChrX:18579944	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_1925423909	1 SubmittersRCV001351068
NM_001323289.2(CDKL5):c.412C>G (p.Pro138Ala)	SNV Germline	ChrX:18581899	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_1925492354	1 SubmittersRCV001341921
NM_001323289.2(CDKL5):c.424T>G (p.Leu142Val)	SNV Germline	ChrX:18581911	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_1925493252	1 SubmittersRCV001340524
NM_001323289.2(CDKL5):c.217G>A (p.Val73Met)	SNV Germline	ChrX:18575425	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_2147139605	1 SubmittersRCV001360583
NM_130839.5(UBE3A):c.1960G>C (p.Val654Leu)	SNV Germline	Chr15:25356056	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2152694181	1 SubmittersRCV001726508
NM_130839.5(UBE3A):c.2423G>A (p.Gly808Asp)	SNV Germline	Chr15:25340160	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2152515149	1 SubmittersRCV001379188
NM_130839.5(UBE3A):c.238T>C (p.Cys80Arg)	SNV Germline	Chr15:25375588	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2152848080	1 SubmittersRCV001377695
NM_001323289.2(CDKL5):c.146-2A>C	SNV Germline	ChrX:18575352	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_2147139522	1 SubmittersRCV001378614
NM_001323289.2(CDKL5):c.256T>G (p.Tyr86Asp)	SNV Germline	ChrX:18575464	Likely pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_2147139669	1 SubmittersRCV001378902
NM_001323289.2(CDKL5):c.194G>C (p.Arg65Pro)	SNV Germline	ChrX:18575402	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_267608436	1 SubmittersRCV001385375
NM_001323289.2(CDKL5):c.513C>G (p.Tyr171Ter)	SNV Germline	ChrX:18584312	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_267608490	1 SubmittersRCV001385704
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter)	SNV Germline	ChrX:18584326	Pathogenic/Likely pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts		rs_2147145565	2 SubmittersRCV001382473 RCV002243173
NM_001323289.2(CDKL5):c.532C>G (p.Arg178Gly)	SNV Germline	ChrX:18584331	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_267608493	2 SubmittersRCV001383655 RCV002221628
NM_001323289.2(CDKL5):c.554+4A>G	SNV Germline	ChrX:18584357	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_2147145614	1 SubmittersRCV001386231
NM_001323289.2(CDKL5):c.1927C>T (p.Gln643Ter)	SNV Germline	ChrX:18604851	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_2147161353	1 SubmittersRCV001383236
NM_130839.5(UBE3A):c.1682G>A (p.Gly561Glu)	SNV Germline	Chr15:25360454	Likely pathogenic	Angelman syndrome	No Assertion Criteria Provided		rs_2077884610	1 SubmittersRCV001788548
NM_130839.5(UBE3A):c.1754-3T>C	SNV Germline	Chr15:25356899	Conflicting classifications of pathogenicity	Condition: not provided Angelman syndrome	Criteria Provided Conflicting Classifications		rs_1398256620	2 SubmittersRCV001546001 RCV002032557
NM_001323289.2(CDKL5):c.2277-13T>A	SNV Germline	ChrX:18619854	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications		rs_1413641177	2 SubmittersRCV001571478 RCV002072218
NM_000330.4(RS1):c.185-3170A>G	SNV Germline	ChrX:18650502	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications		rs_781435432	2 SubmittersRCV001571158 RCV002570779
NM_130839.5(UBE3A):c.2547C>G (p.Tyr849Ter)	SNV Unknown	Chr15:25339209	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_1445563777	1 SubmittersRCV001706787
NM_001323289.2(CDKL5):c.282+19A>G	SNV Germline	ChrX:18575509	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications		rs_781452978	2 SubmittersRCV003238483 RCV002544198
NM_001323289.2(CDKL5):c.604G>T (p.Gly202Trp)	SNV Germline	ChrX:18588003	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_2147148032	1 SubmittersRCV001926048
NM_130839.5(UBE3A):c.2124+1G>T	SNV Germline	Chr15:25355891	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2152693602	1 SubmittersRCV001990284
NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter)	SNV Germline	ChrX:18619961	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_1926838663	1 SubmittersRCV001899898
NM_001323289.2(CDKL5):c.469G>C (p.Ala157Pro)	SNV Germline	ChrX:18584268	Likely pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2 CDKL5 disorder	Reviewed By Expert Panel		rs_2147145500	2 SubmittersRCV001881738 RCV003448429
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys)	SNV Germline	ChrX:18584329	Likely pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts		rs_2147145573	2 SubmittersRCV002019308 RCV002246646
NM_001323289.2(CDKL5):c.826-1G>A	SNV Germline	ChrX:18598461	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_587783149	1 SubmittersRCV002045366
NM_001323289.2(CDKL5):c.637G>A (p.Gly213Arg)	SNV Germline	ChrX:18588036	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_2147148092	1 SubmittersRCV002022681
NM_130839.5(UBE3A):c.2498+2T>C	SNV Germline	Chr15:25340083	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2152514800	1 SubmittersRCV001926484
NM_130839.5(UBE3A):c.393T>A (p.Tyr131Ter)	SNV Germline	Chr15:25371781	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2152823877	1 SubmittersRCV002002385
NM_001323289.2(CDKL5):c.464-2A>C	SNV Germline	ChrX:18584261	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_267608480	1 SubmittersRCV002000131
NM_001323289.2(CDKL5):c.585G>A (p.Trp195Ter)	SNV Germline	ChrX:18587984	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_2147147996	1 SubmittersRCV001972460
NM_001323289.2(CDKL5):c.99+1G>C	SNV Germline	ChrX:18510855	Likely pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2	Criteria Provided Single Submitter		rs_267608421	1 SubmittersRCV002046020
NM_001323289.2(CDKL5):c.578A>C (p.Asp193Ala)	SNV Germline	ChrX:18587977	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_267608500	1 SubmittersRCV001941208
NM_001323289.2(CDKL5):c.830T>C (p.Leu277Ser)	SNV Germline	ChrX:18598466	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter		rs_2147156094	1 SubmittersRCV001940015
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln)	SNV Germline	ChrX:18604600	Conflicting classifications of pathogenicity	Angelman syndrome-like Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2	Criteria Provided Conflicting Classifications		rs_1926294168	2 SubmittersRCV002085272 RCV003147738
NM_001323289.2(CDKL5):c.2194G>A (p.Val732Met)	SNV Germline	ChrX:18613193	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like Inborn genetic diseases CDKL5-related disorder	Criteria Provided Conflicting Classifications		rs_888325600	3 SubmittersRCV002141256 RCV004047006 RCV004531505
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr)	SNV Germline	ChrX:18604540	Conflicting classifications of pathogenicity	Angelman syndrome-like Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1356745875	3 SubmittersRCV002090856 RCV002290848 RCV003438938
NM_130839.5(UBE3A):c.1594G>T (p.Asp532Tyr)	SNV Germline	Chr15:25370580	Likely pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2152819923	1 SubmittersRCV002226830
NM_130839.5(UBE3A):c.2498+1G>A	SNV Germline	Chr15:25340084	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter		rs_2152514807	1 SubmittersRCV002246802
NM_001323289.2(CDKL5):c.914G>A (p.Arg305His)	SNV Germline	ChrX:18598550	Conflicting classifications of pathogenicity	Inborn genetic diseases Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications			2 SubmittersRCV002378797 RCV003100107
NM_001323289.2(CDKL5):c.678G>A (p.Val226=)	SNV Germline	ChrX:18588077	Conflicting classifications of pathogenicity	Inborn genetic diseases Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications			2 SubmittersRCV002369399 RCV003098378
NM_001323289.2(CDKL5):c.100G>T (p.Glu34Ter)	SNV Germline	ChrX:18564477	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003064672
NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)	SNV Germline	ChrX:18588004	Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003037003 RCV003059895
NM_001323289.2(CDKL5):c.812T>C (p.Leu271Pro)	SNV Germline	ChrX:18595415	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003050590
NM_001323289.2(CDKL5):c.533G>T (p.Arg178Leu)	SNV Germline	ChrX:18584332	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003085978
NM_001323289.2(CDKL5):c.863C>G (p.Thr288Arg)	SNV Germline	ChrX:18598499	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications			2 SubmittersRCV002512396 RCV003776058
NM_001323289.2(CDKL5):c.578A>T (p.Asp193Val)	SNV Germline	ChrX:18587977	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003112433
NM_001323289.2(CDKL5):c.2376+2T>A	SNV Germline	ChrX:18619968	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV002806805
NM_001323289.2(CDKL5):c.64+2T>G	SNV Germline	ChrX:18507162	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV002811060
NM_001323289.2(CDKL5):c.825+1G>C	SNV Germline	ChrX:18595429	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV002825693
NM_001323289.2(CDKL5):c.2152+2T>G	SNV Germline	ChrX:18609572	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV002829253
NM_001323289.2(CDKL5):c.554+2T>C	SNV Germline	ChrX:18584355	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV002875812
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)	SNV Germline	Chr15:25339170	Conflicting classifications of pathogenicity	Angelman syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002926658 RCV003395535
NM_001323289.2(CDKL5):c.464-3C>G	SNV Germline	ChrX:18584260	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV002894642
NM_001323289.2(CDKL5):c.934A>T (p.Lys312Ter)	SNV Germline	ChrX:18598570	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV002894386
NM_001323289.2(CDKL5):c.1321C>T (p.Gln441Ter)	SNV Germline	ChrX:18604245	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003055005
NM_001323289.2(CDKL5):c.463G>A (p.Gly155Ser)	SNV Germline	ChrX:18581950	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003051655
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)	SNV Germline	ChrX:18598604	Pathogenic	Angelman syndrome-like Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003045107 RCV003336799
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)	SNV Germline	ChrX:18613156	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 2 Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Conflicting Classifications			2 SubmittersRCV003144787 RCV003778832
NM_130839.5(UBE3A):c.779T>A (p.Leu260Ter)	SNV Germline	Chr15:25371395	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003223601
NM_130839.5(UBE3A):c.898G>T (p.Glu300Ter)	SNV Germline	Chr15:25371276	Pathogenic	Angelman syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003621454
NM_001323289.2(CDKL5):c.609G>C (p.Glu203Asp)	SNV Germline	ChrX:18588008	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003783752
NM_001323289.2(CDKL5):c.2152+1G>T	SNV Germline	ChrX:18609571	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003783753
NM_001323289.2(CDKL5):c.416A>C (p.Glu139Ala)	SNV Germline	ChrX:18581903	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003807749
NM_001323289.2(CDKL5):c.74G>T (p.Gly25Val)	SNV Germline	ChrX:18510829	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003807977
NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)	SNV Germline	ChrX:18575466	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003806376
NM_001323289.2(CDKL5):c.625C>A (p.Pro209Thr)	SNV Germline	ChrX:18588024	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003804532
NM_001323289.2(CDKL5):c.524G>A (p.Arg175Lys)	SNV Germline	ChrX:18584323	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003805464
NM_001323289.2(CDKL5):c.397C>T (p.His133Tyr)	SNV Germline	ChrX:18579962	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003802609
NM_001323289.2(CDKL5):c.2277G>A (p.Trp759Ter)	SNV Germline	ChrX:18619867	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003802737
NM_001323289.2(CDKL5):c.2276+1G>T	SNV Germline	ChrX:18613276	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003800278
NM_001323289.2(CDKL5):c.163G>T (p.Glu55Ter)	SNV Germline	ChrX:18575371	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003808679
NM_001323289.2(CDKL5):c.404-6C>G	SNV Germline	ChrX:18581885	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003801963
NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)	SNV Germline	ChrX:18587984	Likely pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003802065
NM_001323289.2(CDKL5):c.515T>G (p.Val172Gly)	SNV Germline	ChrX:18584314	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003809950
NM_001323289.2(CDKL5):c.61G>A (p.Glu21Lys)	SNV Germline	ChrX:18507157	Pathogenic	Developmental and epileptic encephalopathy, 2 Angelman syndrome-like	Criteria Provided Single Submitter			1 SubmittersRCV003812299

NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter)

SNV
Germline

Chr15:25370865

Pathogenic

Angelman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA325619

4 SubmittersRCV000008430

NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter)

SNV
Germline

Chr15:25340219

Pathogenic

Angelman syndrome

Reviewed By Expert Panel

CA325622

rs_111033595

3 SubmittersRCV000008431

NM_130839.5(UBE3A):c.376A>C (p.Thr126Pro)

SNV
Germline

Chr15:25371798

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA325625

rs_111033596

1 SubmittersRCV000008432

NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr)

SNV
Germline

Chr15:25371725

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA325628

rs_111033597

1 SubmittersRCV000008433

NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)

SNV
Germline

ChrX:18628374

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 2
Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

CA121519

rs_122460158

4 SubmittersRCV000012255 RCV000133352 RCV003764559

NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)

SNV
Germline

ChrX:18564496

Pathogenic

Developmental and epileptic encephalopathy, 2
Atypical Rett syndrome
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
CDKL5 disorder
Condition: not provided

Reviewed By Expert Panel

CA121521

rs_122460159

6 SubmittersRCV000012257 RCV000133317 RCV000699210 RCV001507073 RCV001564884

NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)

SNV
Germline

ChrX:18575423

Pathogenic

Developmental and epileptic encephalopathy, 2
Condition: not provided
Rett syndrome
CDKL5 disorder
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Reviewed By Expert Panel

CA121523

rs_62641235

6 SubmittersRCV000012258 RCV000080068 RCV000169913 RCV001507029 RCV001385703

NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)

SNV
Germline

ChrX:154031431

Pathogenic

Rett syndrome, zappella variant
Condition: not provided
Rett syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
Angelman syndrome
Severe neonatal-onset encephalopathy with microcephaly
not specified
Inborn genetic diseases
Neurodevelopmental delay
Intellectual disability
Syndromic X-linked intellectual disability Lubs type

Reviewed By Expert Panel

CA211250

rs_28934904

43 SubmittersRCV000012578 RCV000081202 RCV000030666 RCV000170107 RCV000169934 RCV000460141 RCV000445570 RCV000624907 RCV002273925 RCV001257757 RCV003984804

NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)

SNV
Germline

ChrX:154031355

Pathogenic/Likely pathogenic

Rett syndrome
Condition: not provided
Severe neonatal-onset encephalopathy with microcephaly
Autism, susceptibility to, X-linked 3
Angelman syndrome
Inborn genetic diseases
Syndromic X-linked intellectual disability Lubs type
Autism, susceptibility to, X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Abnormality of the nervous system
X-linked intellectual disability-psychosis-macroorchidism syndrome
Neurodevelopmental delay
Syndromic X-linked intellectual disability Lubs type
MECP2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA211252

rs_28934906

49 SubmittersRCV000012580 RCV000133129 RCV000170110 RCV000169935 RCV000170109 RCV000623451 RCV000763199 RCV001813975 RCV002247328 RCV002273926 RCV003984805 RCV004540995

NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)

SNV
Germline

ChrX:154030912

Pathogenic

Rett syndrome
Condition: not provided
Angelman syndrome
Intellectual disability
Severe neonatal-onset encephalopathy with microcephaly
Autism, susceptibility to, X-linked 3
Neurodevelopmental delay
See cases
Inborn genetic diseases
Syndromic X-linked intellectual disability Lubs type
Autism, susceptibility to, X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
MECP2-related disorder

Reviewed By Expert Panel

CA212529

rs_28935468

46 SubmittersRCV000012597 RCV000081218 RCV000202468 RCV000224156 RCV000466020 RCV001841244 RCV002273927 RCV002287332 RCV002444428 RCV003224093 RCV004532325

NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)

SNV
Germline

ChrX:154031405

Pathogenic

Atypical Rett syndrome
Angelman syndrome
Rett syndrome
Condition: not provided
Inborn genetic diseases
Severe neonatal-onset encephalopathy with microcephaly

Criteria Provided
Multiple Submitters
No Conflicts

CA121710

rs_61748396

14 SubmittersRCV000012606 RCV000133106 RCV000170108 RCV000729616 RCV000623504 RCV001049210

NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro)

SNV
Germline

ChrX:18584332

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

CA121529

rs_267606715

3 SubmittersRCV000012262 RCV001035195

NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)

SNV
Germline

ChrX:18584332

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
West syndrome
CDKL5 disorder

Reviewed By Expert Panel

CA199289

rs_267606715

11 SubmittersRCV000080074 RCV000169920 RCV001201864 RCV003488377 RCV001507061

NM_130839.5(UBE3A):c.748G>T (p.Glu250Ter)

SNV
Germline

Chr15:25371426

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333466

rs_587780575

1 SubmittersRCV000144548

NM_130839.5(UBE3A):c.777T>A (p.Tyr259Ter)

SNV
Germline

Chr15:25371397

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333469

rs_587780576

1 SubmittersRCV000144549

NM_130839.5(UBE3A):c.62T>C (p.Met21Thr)

SNV
Germline

Chr15:25405461

Pathogenic

Angelman syndrome
Condition: not provided

Reviewed By Expert Panel

CA333472

rs_587780577

3 SubmittersRCV000144550 RCV000724262

NM_130839.5(UBE3A):c.362-2A>T

SNV
Germline

Chr15:25371814

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333475

rs_587780578

1 SubmittersRCV000144551

NM_130839.5(UBE3A):c.1754-2A>G

SNV
Germline

Chr15:25356898

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333476

rs_587780579

1 SubmittersRCV000144552

NM_130839.5(UBE3A):c.2125-2A>C

SNV
Germline

Chr15:25354685

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333477

rs_587780580

1 SubmittersRCV000144553

NM_130839.5(UBE3A):c.2618A>T (p.Ter873Leu)

SNV
Germline

Chr15:25339138

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333478

rs_76794400

1 SubmittersRCV000144554

NM_130839.5(UBE3A):c.695A>T (p.Asp232Val)

SNV
Germline

Chr15:25371479

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333481

rs_587780581

1 SubmittersRCV000144555

NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro)

SNV
Germline

Chr15:25371404

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333484

rs_587780582

2 SubmittersRCV000144556

NM_130839.5(UBE3A):c.848T>G (p.Leu283Trp)

SNV
Germline

Chr15:25371326

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333487

rs_587780583

1 SubmittersRCV000144557

NM_130839.5(UBE3A):c.1433C>T (p.Pro478Leu)

SNV
Germline

Chr15:25370741

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333490

rs_587780584

1 SubmittersRCV000144558

NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)

SNV
Germline

ChrX:154032282

Pathogenic

Angelman syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly

Reviewed By Expert Panel

CA274626

rs_61754453

5 SubmittersRCV000133058 RCV000170238 RCV001857483

NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)

SNV
Germline

ChrX:18604572

Pathogenic

Developmental and epileptic encephalopathy, 2
Atypical Rett syndrome
Condition: not provided
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA199285

rs_267608643

8 SubmittersRCV000170009 RCV000169916 RCV000133327 RCV001244788

NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)

SNV
Germline/somatic

ChrX:18604599

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 2
Condition: not provided
Atypical Rett syndrome
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA171614

rs_267608395

9 SubmittersRCV000145521 RCV000133328 RCV000169917 RCV000694251

NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)

SNV
Germline

ChrX:18575383

Pathogenic

Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
CDKL5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA171618

rs_62653623

6 SubmittersRCV000170010 RCV000145523 RCV000711154 RCV001385702 RCV004532618

NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)

SNV
Germline

ChrX:18575407

Conflicting classifications of pathogenicity

Rett syndrome
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

CA170464

rs_267608437

3 SubmittersRCV000133338 RCV000145527 RCV001849962

NM_000330.4(RS1):c.326+1131G>A

SNV
Germline

ChrX:18646060

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

CA170481

rs_267608664

3 SubmittersRCV000133358 RCV001089711 RCV002055856

NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)

SNV
Germline

ChrX:18579945

Pathogenic

Condition: not provided
Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
CDKL5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA199281

rs_267608468

6 SubmittersRCV000133366 RCV000169914 RCV001071921 RCV004528868

NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter)

SNV
Germline

ChrX:18579965

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Multiple Submitters
No Conflicts

CA199287

rs_267608472

3 SubmittersRCV000133368 RCV000169919 RCV001849964

NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)

SNV
Germline

ChrX:18584312

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 2
CDKL5 disorder
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Reviewed By Expert Panel

CA171644

rs_267608490

5 SubmittersRCV000133371 RCV000145541 RCV001507047 RCV003764877

NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)

SNV
Germline

ChrX:18584331

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 2
Atypical Rett syndrome
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Intellectual disability
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA199283

rs_267608493

9 SubmittersRCV000133373 RCV000169915 RCV000169986 RCV000544362 RCV001260657 RCV002345449

NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)

SNV
Germline

ChrX:18587986

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 2
Epileptic encephalopathy
Condition: not provided
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA171650

rs_267608501

11 SubmittersRCV000145544 RCV000416982 RCV000431821 RCV000812193

NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)

SNV
Germline

ChrX:18507154

Pathogenic

Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

CA170496

rs_267608418

2 SubmittersRCV000133379 RCV002515935

NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro)

SNV
Germline

ChrX:18588058

Pathogenic

Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

CA170500

rs_267608511

2 SubmittersRCV000133381 RCV000640488

NM_130839.5(UBE3A):c.810T>A (p.Tyr270Ter)

SNV
Germline

Chr15:25371364

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333294

rs_587781190

1 SubmittersRCV000144264

NM_130839.5(UBE3A):c.1021C>T (p.Gln341Ter)

SNV
Germline

Chr15:25371153

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333297

rs_587781191

1 SubmittersRCV000144265

NM_130839.5(UBE3A):c.1174G>T (p.Glu392Ter)

SNV
Germline

Chr15:25371000

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333303

rs_587781195

1 SubmittersRCV000144269

NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter)

SNV
Germline

Chr15:25370913

Pathogenic

Angelman syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA333306

rs_587781196

3 SubmittersRCV000144270 RCV000623493 RCV003313042

NM_130839.5(UBE3A):c.1330G>T (p.Glu444Ter)

SNV
Germline

Chr15:25370844

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333309

rs_587781197

1 SubmittersRCV000144271

NM_130839.5(UBE3A):c.1345G>T (p.Glu449Ter)

SNV
Germline

Chr15:25370829

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333312

rs_587781198

1 SubmittersRCV000144272

NM_130839.5(UBE3A):c.1431T>A (p.Cys477Ter)

SNV
Germline

Chr15:25370743

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333317

rs_587781201

1 SubmittersRCV000144275

NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter)

SNV
Germline

Chr15:25356860

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333326

rs_587781208

2 SubmittersRCV000144282

NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter)

SNV
Germline

Chr15:25355984

Pathogenic

Angelman syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA333333

rs_587781213

3 SubmittersRCV000144287 RCV003318554

NM_130839.5(UBE3A):c.2237T>A (p.Leu746Ter)

SNV
Germline

Chr15:25354571

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333339

rs_587781217

1 SubmittersRCV000144291

NM_130839.5(UBE3A):c.2293C>T (p.Gln765Ter)

SNV
Germline

Chr15:25354414

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333343

rs_587781219

1 SubmittersRCV000144293

NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter)

SNV
Germline

Chr15:25354402

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333346

rs_587781220

2 SubmittersRCV000144294

NM_130839.5(UBE3A):c.2534T>A (p.Leu845Ter)

SNV
Germline

Chr15:25339222

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333355

rs_587781226

1 SubmittersRCV000144301

NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter)

SNV
Germline

Chr15:25339207

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333360

rs_587781228

2 SubmittersRCV000144304

NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg)

SNV
Germline

Chr15:25360443

Likely pathogenic

Angelman syndrome
Inborn genetic diseases

Criteria Provided
Single Submitter

CA333366

rs_587781233

2 SubmittersRCV000144309 RCV000622521

NM_130839.5(UBE3A):c.1810G>C (p.Glu604Gln)

SNV
Germline

Chr15:25356840

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333372

rs_587781235

1 SubmittersRCV000144311

NM_130839.5(UBE3A):c.2027C>T (p.Thr676Ile)

SNV
Germline

Chr15:25355989

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333375

rs_587781236

1 SubmittersRCV000144312

NM_130839.5(UBE3A):c.2129T>G (p.Phe710Cys)

SNV
Germline

Chr15:25354679

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333378

rs_587781237

1 SubmittersRCV000144313

NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)

SNV
Germline

Chr15:25339216

Pathogenic/Likely pathogenic

Angelman syndrome
Neurodevelopmental disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA333384

rs_587781239

5 SubmittersRCV000144315 RCV003389042 RCV002514772

NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys)

SNV
Germline

Chr15:25371797

Pathogenic

Angelman syndrome

Reviewed By Expert Panel

CA333390

rs_587781241

3 SubmittersRCV000144317

NM_130839.5(UBE3A):c.770T>A (p.Leu257His)

SNV
Germline

Chr15:25371404

Likely pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333393

rs_587780582

1 SubmittersRCV000144318

NM_130839.5(UBE3A):c.1364T>C (p.Leu455Pro)

SNV
Germline

Chr15:25370810

Likely pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333396

rs_587781242

1 SubmittersRCV000144319

NM_130839.5(UBE3A):c.1490G>C (p.Arg497Pro)

SNV
Germline

Chr15:25370684

Likely pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333399

rs_587781243

1 SubmittersRCV000144320

NM_130839.5(UBE3A):c.1757T>A (p.Met586Lys)

SNV
Germline

Chr15:25356893

Likely pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA333402

rs_587781244

1 SubmittersRCV000144321

NM_001323289.2(CDKL5):c.100-2A>G

SNV
Germline

ChrX:18564475

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

CA199372

rs_267608423

2 SubmittersRCV000144120 RCV000169990 RCV001046060

NM_001323289.2(CDKL5):c.2047-1G>A

SNV
Germline

ChrX:18609464

Pathogenic

Atypical Rett syndrome
Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

CA199386

rs_267608650

3 SubmittersRCV000170016 RCV000144124 RCV001385706 RCV001849177

NM_001323289.2(CDKL5):c.463+1G>A

SNV
Germline

ChrX:18581951

Pathogenic

Condition: not provided
Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

CA199404

rs_267608479

2 SubmittersRCV000144135 RCV000170044 RCV002512557

NM_001323289.2(CDKL5):c.404-2A>G

SNV
Germline

ChrX:18581889

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Multiple Submitters
No Conflicts

CA294596

rs_587783080

2 SubmittersRCV000144742 RCV001215542

NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe)

SNV
Germline

Chr15:25339193

Likely pathogenic

Condition: not provided
Angelman syndrome
See cases

Reviewed By Expert Panel

CA294630

rs_587783097

4 SubmittersRCV000144763 RCV000147882 RCV002274930

NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly)

SNV
Germline

Chr15:25371762

Conflicting classifications of pathogenicity

Condition: not provided
Angelman syndrome

Criteria Provided
Conflicting Classifications

CA294642

rs_587783100

2 SubmittersRCV001704063 RCV001857494

NM_001323289.2(CDKL5):c.1636G>A (p.Gly546Arg)

SNV
Germline

ChrX:18604560

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
CDKL5-related disorder

Criteria Provided
Conflicting Classifications

rs_587783153

2 SubmittersRCV001206862 RCV004532635

NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu)

SNV
Germline

ChrX:18604645

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA294755

rs_199897804

3 SubmittersRCV000866522 RCV001704064 RCV002399513

NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu)

SNV
Germline

ChrX:18628558

Conflicting classifications of pathogenicity

Abnormal cerebral morphology
not specified
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

rs_587783157

4 SubmittersRCV002275896 RCV002300674 RCV002466282 RCV003774883

NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)

SNV
Germline

ChrX:18628470

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA171632

rs_587783158

3 SubmittersRCV000144836 RCV000145534 RCV002515946

NM_000330.4(RS1):c.184+3194A>G

SNV
Germline

ChrX:18653459

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
CDKL5-related disorder

Criteria Provided
Conflicting Classifications

CA171642

rs_587783162

4 SubmittersRCV000145540 RCV002055867 RCV004532636

NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp)

SNV
Germline

Chr15:25339147

Conflicting classifications of pathogenicity

Angelman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA235190

rs_587784528

3 SubmittersRCV000147884 RCV000154106

NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His)

SNV
Germline

Chr15:25339211

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333549

rs_587784526

1 SubmittersRCV000147881

NM_130839.5(UBE3A):c.2131G>A (p.Val711Ile)

SNV
Germline

Chr15:25354677

Conflicting classifications of pathogenicity

not specified
Angelman syndrome

Criteria Provided
Conflicting Classifications

CA173808

rs_587784524

2 SubmittersRCV000147878 RCV003619649

NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp)

SNV
Germline

Chr15:25355930

Conflicting classifications of pathogenicity

not specified
Angelman syndrome

Criteria Provided
Conflicting Classifications

CA173805

rs_587784523

2 SubmittersRCV000147877 RCV001850008

NM_130839.5(UBE3A):c.1823A>G (p.Gln608Arg)

SNV
Germline

Chr15:25356827

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333539

rs_587782919

1 SubmittersRCV000147873

NM_130839.5(UBE3A):c.1748A>G (p.Asp583Gly)

SNV
Germline

Chr15:25360388

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333534

rs_587784518

1 SubmittersRCV000147870

NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser)

SNV
Germline

Chr15:25360394

Conflicting classifications of pathogenicity

Angelman syndrome

Criteria Provided
Conflicting Classifications

CA333531

rs_587784517

2 SubmittersRCV000147869

NM_130839.5(UBE3A):c.1694G>A (p.Gly565Glu)

SNV
Germline

Chr15:25360442

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333528

rs_587784516

1 SubmittersRCV000147868

NM_130839.5(UBE3A):c.1659T>A (p.Tyr553Ter)

SNV
Germline

Chr15:25360477

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333525

rs_587784515

1 SubmittersRCV000147867

NM_130839.5(UBE3A):c.1627G>T (p.Glu543Ter)

SNV
Germline

Chr15:25360509

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333522

rs_587784514

1 SubmittersRCV000147866

NM_130839.5(UBE3A):c.1150G>T (p.Glu384Ter)

SNV
Germline

Chr15:25371024

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333510

rs_587784508

1 SubmittersRCV000147859

NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter)

SNV
Germline

Chr15:25371150

Pathogenic/Likely pathogenic

Angelman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA333562

rs_587784534

2 SubmittersRCV000147892

NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter)

SNV
Germline

Chr15:25371285

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

CA333559

rs_587784533

1 SubmittersRCV000147891

NM_130839.5(UBE3A):c.328A>G (p.Met110Val)

SNV
Germline

Chr15:25375498

Conflicting classifications of pathogenicity

not specified
Angelman syndrome

Criteria Provided
Conflicting Classifications

CA173818

rs_369853017

2 SubmittersRCV000147885 RCV001850009

NM_130839.5(UBE3A):c.176G>A (p.Arg59His)

SNV
Germline

Chr15:25375650

Conflicting classifications of pathogenicity

not specified
Angelman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173802

rs_587784511

3 SubmittersRCV000147863 RCV001762327 RCV003237745

NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=)

SNV
Germline

ChrX:18613264

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

CA233655

rs_727503846

2 SubmittersRCV000152958 RCV002056022

NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp)

SNV
Germline

ChrX:18507155

Likely pathogenic

Condition: not provided
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

CA235605

rs_786204962

2 SubmittersRCV000169987 RCV001850412

NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys)

SNV
Germline

ChrX:18584327

Pathogenic

Atypical Rett syndrome
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

CA199411

rs_786204989

2 SubmittersRCV000170050 RCV001850413

NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter)

SNV
Germline

ChrX:18604299

Pathogenic

Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

CA199377

rs_786204969

2 SubmittersRCV000169996 RCV003765058

NM_001323289.2(CDKL5):c.2046+1G>A

SNV
Germline

ChrX:18608913

Pathogenic

Atypical Rett syndrome
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

CA199385

rs_786204976

2 SubmittersRCV000170015 RCV000536060

NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val)

SNV
Germline

ChrX:18584269

Likely pathogenic

not specified
Condition: not provided
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
CDKL5 disorder

Reviewed By Expert Panel

CA279171

rs_863225066

6 SubmittersRCV000201271 RCV000487793 RCV001857739 RCV002470811 RCV003235124

NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)

SNV
Germline

Chr11:6617627

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Angelman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA319165

rs_756564767

10 SubmittersRCV000189759 RCV000763269 RCV000792396 RCV001004372 RCV001804926

NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=)

SNV
Germline

ChrX:18613214

Conflicting classifications of pathogenicity

not specified
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Conflicting Classifications

CA205703

rs_747554139

2 SubmittersRCV000192702 RCV003765215

NM_130839.5(UBE3A):c.119G>T (p.Gly40Val)

SNV
Germline

Chr15:25375707

Pathogenic

Angelman syndrome

No Assertion Criteria Provided

CA339616

rs_864309506

1 SubmittersRCV000202457

NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=)

SNV
Germline

ChrX:18609569

Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
CDKL5 disorder

Reviewed By Expert Panel

CA10605540

rs_886043453

4 SubmittersRCV000402438 RCV001379966 RCV003235178

NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter)

SNV
Germline

ChrX:18603930

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Multiple Submitters
No Conflicts

CA16043206

rs_1057518203

2 SubmittersRCV000413039 RCV000807507

NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His)

SNV
Germline

ChrX:18628447

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

CA10360568

rs_759083770

2 SubmittersRCV000422464 RCV001203724

NM_001323289.2(CDKL5):c.826-2A>G

SNV
Germline

ChrX:18598460

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

CA16616641

rs_1060501859

1 SubmittersRCV000474894

NM_130839.5(UBE3A):c.2125-1G>A

SNV
Germline

Chr15:25354684

Likely pathogenic

Condition: not provided
Angelman syndrome

Reviewed By Expert Panel

CA16619904

rs_1064795001

2 SubmittersRCV000486030 RCV001507065

NM_130839.5(UBE3A):c.1577G>A (p.Arg526His)

SNV
Germline

Chr15:25370597

Likely pathogenic

Condition: not provided
Angelman syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16619906

rs_1064795012

4 SubmittersRCV000483765 RCV000989273 RCV001266187

NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys)

SNV
Germline

Chr15:25370598

Likely pathogenic

Condition: not provided
Angelman syndrome
UBE3A-related disorder

Reviewed By Expert Panel

CA16619907

rs_1064793307

6 SubmittersRCV000478539 RCV000690582 RCV003900014

NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys)

SNV
Germline

ChrX:18598490

Pathogenic/Likely pathogenic

Condition: not provided
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16621272

rs_1064795672

2 SubmittersRCV000481012 RCV001244046

NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys)

SNV
Germline

ChrX:18598549

Conflicting classifications of pathogenicity

Condition: not provided
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Conflicting Classifications

CA16621274

rs_1064794671

2 SubmittersRCV000482764 RCV002526585

NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala)

SNV
Germline

ChrX:18604719

Conflicting classifications of pathogenicity

Condition: not provided
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Conflicting Classifications

CA16621280

rs_761662406

2 SubmittersRCV000484294 RCV001312883

NM_001323289.2(CDKL5):c.1945-5T>C

SNV
Germline

ChrX:18608806

Conflicting classifications of pathogenicity

Condition: not provided
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Conflicting Classifications

CA16621281

rs_1064796245

2 SubmittersRCV000479946 RCV001227597

NM_000330.4(RS1):c.185-3161G>C

SNV
Germline

ChrX:18650493

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

CA16621287

rs_1064794669

2 SubmittersRCV000487199 RCV003766683

NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys)

SNV
Germline

ChrX:18628446

Conflicting classifications of pathogenicity

Condition: not provided
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Conflicting Classifications

CA10360567

rs_773760466

2 SubmittersRCV000489788 RCV002063831

NM_130839.5(UBE3A):c.1754-4A>G

SNV
Germline

Chr15:25356900

Conflicting classifications of pathogenicity

not specified
Angelman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7435487

rs_780429591

3 SubmittersRCV000503675 RCV001205261 RCV001662501

NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter)

SNV
Germline

Chr15:25370670

Pathogenic

Condition: not provided
Angelman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA391353439

rs_1555399937

3 SubmittersRCV000514203 RCV001044278

NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter)

SNV
Germline

Chr15:25375759

Pathogenic

Condition: not provided
Angelman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA391356714

rs_1490279918

2 SubmittersRCV000523070 RCV002248757

NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter)

SNV
Germline

ChrX:18604170

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

CA412360098

rs_1555951991

1 SubmittersRCV000560461

NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter)

SNV
Germline

ChrX:18604443

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

CA412361346

rs_1555952052

2 SubmittersRCV000535244 RCV003326138

NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter)

SNV
Germline

ChrX:18619935

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412363752

rs_1555954074

2 SubmittersRCV000548702 RCV001567324

NM_130839.5(UBE3A):c.1609-11T>C

SNV
Germline

Chr15:25360538

Conflicting classifications of pathogenicity

Condition: not provided
Angelman syndrome

Criteria Provided
Conflicting Classifications

CA658683883

rs_1555393315

2 SubmittersRCV000578506 RCV002060550

NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter)

SNV
Germline

ChrX:18595389

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA412355012

rs_1555951146

3 SubmittersRCV000579245 RCV001047013 RCV002470915

NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr)

SNV
Germline

ChrX:18581942

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA412351052

rs_122460157

2 SubmittersRCV000585869 RCV002530871

NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr)

SNV
Germline

ChrX:18588015

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

CA412353277

rs_1555950468

2 SubmittersRCV000585875 RCV003767322

NM_000330.4(RS1):c.185-3221G>C

SNV
Germline

ChrX:18650553

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Condition: not provided
Developmental and epileptic encephalopathy, 2

Criteria Provided
Conflicting Classifications

CA327013112

rs_374054249

4 SubmittersRCV000640487 RCV001698072 RCV003144390

NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter)

SNV
Germline

Chr6:142760353

Pathogenic

Condition: not provided
Angelman syndrome-like
Intellectual disability, autosomal dominant 43

Criteria Provided
Multiple Submitters
No Conflicts

CA365888263

rs_1554275163

3 SubmittersRCV000627217 RCV000852329 RCV001265390

NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter)

SNV
Germline

ChrX:18584307

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

CA412352360

rs_1555950066

1 SubmittersRCV000640483

NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter)

SNV
Germline

Chr15:25370967

Pathogenic

Condition: not provided
Angelman syndrome

Reviewed By Expert Panel

rs_1555400239

2 SubmittersRCV000658116 RCV001507035

NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile)

SNV
Germline

ChrX:18604268

Conflicting classifications of pathogenicity

West syndrome
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Conflicting Classifications

rs_1555952013

2 SubmittersRCV000659288 RCV002536338

NM_130839.5(UBE3A):c.1696G>A (p.Gly566Ser)

SNV
Unknown

Chr15:25360440

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_1555393242

1 SubmittersRCV000677659

NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter)

SNV
Germline

ChrX:18598504

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569218019

2 SubmittersRCV000679944 RCV001229805

NM_001323289.2(CDKL5):c.282+1G>T

SNV
Germline

ChrX:18575491

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_1569213054

1 SubmittersRCV000705991

NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly)

SNV
Germline

ChrX:18587982

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_1569215594

1 SubmittersRCV000687369

NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu)

SNV
Germline

ChrX:18588037

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_1569215629

1 SubmittersRCV000699805

NM_130839.5(UBE3A):c.854T>C (p.Ile285Thr)

SNV
Germline

Chr15:25371320

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_1566959617

1 SubmittersRCV000699666

NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter)

SNV
Germline

Chr15:25371548

Pathogenic

Condition: not provided
Angelman syndrome

Reviewed By Expert Panel

rs_1566961418

2 SubmittersRCV000760659 RCV001507036

NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp)

SNV
Germline

ChrX:18507149

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_1602230515

1 SubmittersRCV000816804

NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg)

SNV
Germline

ChrX:18581941

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
CDKL5 disorder

Reviewed By Expert Panel

rs_1602272932

3 SubmittersRCV000815876 RCV001336019 RCV003235409

NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter)

SNV
Germline

ChrX:18619935

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_1555954074

1 SubmittersRCV000819555

NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)

SNV
Germline

ChrX:18625159

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Conflicting Classifications

rs_1005844306

2 SubmittersRCV000796038 RCV001198372

NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg)

SNV
Germline

ChrX:18625177

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1602298609

2 SubmittersRCV000801876 RCV004028078

NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter)

SNV
Germline

ChrX:18628659

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_1602300816

1 SubmittersRCV000803646

NM_130839.5(UBE3A):c.211G>T (p.Glu71Ter)

SNV
Unknown

Chr15:25375615

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_1207660411

1 SubmittersRCV000853580

NM_130839.5(UBE3A):c.2198G>T (p.Gly733Val)

SNV
Unknown

Chr15:25354610

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_1595572384

1 SubmittersRCV000989271

NM_130839.5(UBE3A):c.1976T>G (p.Leu659Ter)

SNV
Unknown

Chr15:25356040

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_1595591164

1 SubmittersRCV000989272

NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter)

SNV
Germline

Chr15:25371348

Pathogenic

Angelman syndrome
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

rs_997044541

2 SubmittersRCV000989275 RCV001260805

NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)

SNV
Germline

ChrX:18510820

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
CDKL5 disorder

Reviewed By Expert Panel

rs_1602232972

3 SubmittersRCV000990475 RCV001371944 RCV003235440

NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter)

SNV
Germline

ChrX:18625231

Pathogenic

Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602298653

2 SubmittersRCV000990488 RCV002550618

NM_130839.5(UBE3A):c.2273G>A (p.Gly758Glu)

SNV
Germline

Chr15:25354535

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV001004699

NM_001323289.2(CDKL5):c.2276+1G>A

SNV
Germline

ChrX:18613276

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602292181

2 SubmittersRCV001004660 RCV001860565

NM_130839.5(UBE3A):c.1131T>A (p.Tyr377Ter)

SNV
Germline

Chr15:25371043

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2080231132

1 SubmittersRCV001050018

NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter)

SNV
Germline

Chr15:25371108

Pathogenic

Angelman syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2080238010

4 SubmittersRCV001071345 RCV002051915

NM_130839.5(UBE3A):c.343G>A (p.Ala115Thr)

SNV
Germline

Chr15:25375483

Conflicting classifications of pathogenicity

Angelman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376815580

2 SubmittersRCV001048073 RCV004031493

NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser)

SNV
Germline

ChrX:18507154

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_267608418

1 SubmittersRCV001047599

NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly)

SNV
Germline

ChrX:18564493

Likely pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_1924899673

1 SubmittersRCV001063549

NM_001323289.2(CDKL5):c.154G>T (p.Glu52Ter)

SNV
Germline

ChrX:18575362

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_1925261282

1 SubmittersRCV001067845

NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met)

SNV
Germline

ChrX:18581895

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_1310022305

1 SubmittersRCV001062625

NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys)

SNV
Germline

ChrX:18581907

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_1925492808

1 SubmittersRCV001058028

NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly)

SNV
Germline

ChrX:18588007

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_1925697823

1 SubmittersRCV001041809

NM_001323289.2(CDKL5):c.464-1G>C

SNV
Germline

ChrX:18584262

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_786204986

1 SubmittersRCV001035473

NM_001323289.2(CDKL5):c.744+1G>A

SNV
Germline

ChrX:18588144

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1925705674

2 SubmittersRCV001070396 RCV001089714

NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)

SNV
Germline

ChrX:18579855

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
CDKL5 disorder

Reviewed By Expert Panel

rs_1925418549

3 SubmittersRCV001089706 RCV001301919 RCV003235465

NM_033223.5(GABRG3):c.1125C>T (p.Asn375=)

SNV
Germline

Chr15:27532602

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_1891450501

1 SubmittersRCV001090086

NM_130839.5(UBE3A):c.1609-8A>G

SNV
Germline

Chr15:25360535

Conflicting classifications of pathogenicity

Condition: not provided
Angelman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2077891986

3 SubmittersRCV001092400 RCV001807382 RCV002402492

NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val)

SNV
Germline

ChrX:18507155

Pathogenic

Angelman syndrome
Developmental and epileptic encephalopathy, 2
CDKL5 disorder
Condition: not provided

Reviewed By Expert Panel

rs_786204962

3 SubmittersRCV001175282 RCV001507056 RCV001819879

NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)

SNV
Germline

ChrX:18507134

Likely pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
CDKL5 disorder

Reviewed By Expert Panel

rs_1922605766

3 SubmittersRCV001204295 RCV001194616 RCV002281167

NM_130839.5(UBE3A):c.1012G>T (p.Glu338Ter)

SNV
Germline

Chr15:25371162

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2080245178

1 SubmittersRCV001221493

NM_001323289.2(CDKL5):c.524G>C (p.Arg175Thr)

SNV
Germline

ChrX:18584323

Likely pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_1064794734

1 SubmittersRCV001230939

NM_001323289.2(CDKL5):c.853A>G (p.Arg285Gly)

SNV
Germline

ChrX:18598489

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_1926078505

1 SubmittersRCV001227068

NM_001323289.2(CDKL5):c.282+1G>A

SNV
Germline

ChrX:18575491

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_1569213054

1 SubmittersRCV001237801

NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr)

SNV
Germline

Chr15:25354553

Conflicting classifications of pathogenicity

Intellectual disability
Angelman syndrome

Criteria Provided
Conflicting Classifications

rs_1312971608

2 SubmittersRCV001260797 RCV003509663

NM_130839.5(UBE3A):c.2033A>G (p.Gln678Arg)

SNV
Germline

Chr15:25355983

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2077166492

1 SubmittersRCV001260931

NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp)

SNV
Germline

Chr15:25356786

Likely pathogenic

Angelman syndrome

No Assertion Criteria Provided

rs_2077275624

1 SubmittersRCV001264747

NM_130839.5(UBE3A):c.2410C>T (p.Gln804Ter)

SNV
Germline

Chr15:25340173

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2074504404

1 SubmittersRCV001265637

NM_001323289.2(CDKL5):c.593G>A (p.Gly198Asp)

SNV
Germline

ChrX:18587992

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_1925696959

1 SubmittersRCV001303322

NM_001323289.2(CDKL5):c.554+5G>A

SNV
Germline

ChrX:18584358

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_1925577525

1 SubmittersRCV001320410

NM_001323289.2(CDKL5):c.379C>G (p.His127Asp)

SNV
Germline

ChrX:18579944

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_1925423909

1 SubmittersRCV001351068

NM_001323289.2(CDKL5):c.412C>G (p.Pro138Ala)

SNV
Germline

ChrX:18581899

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_1925492354

1 SubmittersRCV001341921

NM_001323289.2(CDKL5):c.424T>G (p.Leu142Val)

SNV
Germline

ChrX:18581911

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_1925493252

1 SubmittersRCV001340524

NM_001323289.2(CDKL5):c.217G>A (p.Val73Met)

SNV
Germline

ChrX:18575425

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_2147139605

1 SubmittersRCV001360583

NM_130839.5(UBE3A):c.1960G>C (p.Val654Leu)

SNV
Germline

Chr15:25356056

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2152694181

1 SubmittersRCV001726508

NM_130839.5(UBE3A):c.2423G>A (p.Gly808Asp)

SNV
Germline

Chr15:25340160

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2152515149

1 SubmittersRCV001379188

NM_130839.5(UBE3A):c.238T>C (p.Cys80Arg)

SNV
Germline

Chr15:25375588

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2152848080

1 SubmittersRCV001377695

NM_001323289.2(CDKL5):c.146-2A>C

SNV
Germline

ChrX:18575352

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_2147139522

1 SubmittersRCV001378614

NM_001323289.2(CDKL5):c.256T>G (p.Tyr86Asp)

SNV
Germline

ChrX:18575464

Likely pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_2147139669

1 SubmittersRCV001378902

NM_001323289.2(CDKL5):c.194G>C (p.Arg65Pro)

SNV
Germline

ChrX:18575402

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_267608436

1 SubmittersRCV001385375

NM_001323289.2(CDKL5):c.513C>G (p.Tyr171Ter)

SNV
Germline

ChrX:18584312

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_267608490

1 SubmittersRCV001385704

NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter)

SNV
Germline

ChrX:18584326

Pathogenic/Likely pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147145565

2 SubmittersRCV001382473 RCV002243173

NM_001323289.2(CDKL5):c.532C>G (p.Arg178Gly)

SNV
Germline

ChrX:18584331

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_267608493

2 SubmittersRCV001383655 RCV002221628

NM_001323289.2(CDKL5):c.554+4A>G

SNV
Germline

ChrX:18584357

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_2147145614

1 SubmittersRCV001386231

NM_001323289.2(CDKL5):c.1927C>T (p.Gln643Ter)

SNV
Germline

ChrX:18604851

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_2147161353

1 SubmittersRCV001383236

NM_130839.5(UBE3A):c.1682G>A (p.Gly561Glu)

SNV
Germline

Chr15:25360454

Likely pathogenic

Angelman syndrome

No Assertion Criteria Provided

rs_2077884610

1 SubmittersRCV001788548

NM_130839.5(UBE3A):c.1754-3T>C

SNV
Germline

Chr15:25356899

Conflicting classifications of pathogenicity

Condition: not provided
Angelman syndrome

Criteria Provided
Conflicting Classifications

rs_1398256620

2 SubmittersRCV001546001 RCV002032557

NM_001323289.2(CDKL5):c.2277-13T>A

SNV
Germline

ChrX:18619854

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

rs_1413641177

2 SubmittersRCV001571478 RCV002072218

NM_000330.4(RS1):c.185-3170A>G

SNV
Germline

ChrX:18650502

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

rs_781435432

2 SubmittersRCV001571158 RCV002570779

NM_130839.5(UBE3A):c.2547C>G (p.Tyr849Ter)

SNV
Unknown

Chr15:25339209

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_1445563777

1 SubmittersRCV001706787

NM_001323289.2(CDKL5):c.282+19A>G

SNV
Germline

ChrX:18575509

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

rs_781452978

2 SubmittersRCV003238483 RCV002544198

NM_001323289.2(CDKL5):c.604G>T (p.Gly202Trp)

SNV
Germline

ChrX:18588003

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_2147148032

1 SubmittersRCV001926048

NM_130839.5(UBE3A):c.2124+1G>T

SNV
Germline

Chr15:25355891

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2152693602

1 SubmittersRCV001990284

NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter)

SNV
Germline

ChrX:18619961

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_1926838663

1 SubmittersRCV001899898

NM_001323289.2(CDKL5):c.469G>C (p.Ala157Pro)

SNV
Germline

ChrX:18584268

Likely pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
CDKL5 disorder

Reviewed By Expert Panel

rs_2147145500

2 SubmittersRCV001881738 RCV003448429

NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys)

SNV
Germline

ChrX:18584329

Likely pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147145573

2 SubmittersRCV002019308 RCV002246646

NM_001323289.2(CDKL5):c.826-1G>A

SNV
Germline

ChrX:18598461

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_587783149

1 SubmittersRCV002045366

NM_001323289.2(CDKL5):c.637G>A (p.Gly213Arg)

SNV
Germline

ChrX:18588036

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_2147148092

1 SubmittersRCV002022681

NM_130839.5(UBE3A):c.2498+2T>C

SNV
Germline

Chr15:25340083

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2152514800

1 SubmittersRCV001926484

NM_130839.5(UBE3A):c.393T>A (p.Tyr131Ter)

SNV
Germline

Chr15:25371781

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2152823877

1 SubmittersRCV002002385

NM_001323289.2(CDKL5):c.464-2A>C

SNV
Germline

ChrX:18584261

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_267608480

1 SubmittersRCV002000131

NM_001323289.2(CDKL5):c.585G>A (p.Trp195Ter)

SNV
Germline

ChrX:18587984

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_2147147996

1 SubmittersRCV001972460

NM_001323289.2(CDKL5):c.99+1G>C

SNV
Germline

ChrX:18510855

Likely pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2

Criteria Provided
Single Submitter

rs_267608421

1 SubmittersRCV002046020

NM_001323289.2(CDKL5):c.578A>C (p.Asp193Ala)

SNV
Germline

ChrX:18587977

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_267608500

1 SubmittersRCV001941208

NM_001323289.2(CDKL5):c.830T>C (p.Leu277Ser)

SNV
Germline

ChrX:18598466

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

rs_2147156094

1 SubmittersRCV001940015

NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln)

SNV
Germline

ChrX:18604600

Conflicting classifications of pathogenicity

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2

Criteria Provided
Conflicting Classifications

rs_1926294168

2 SubmittersRCV002085272 RCV003147738

NM_001323289.2(CDKL5):c.2194G>A (p.Val732Met)

SNV
Germline

ChrX:18613193

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like
Inborn genetic diseases
CDKL5-related disorder

Criteria Provided
Conflicting Classifications

rs_888325600

3 SubmittersRCV002141256 RCV004047006 RCV004531505

NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr)

SNV
Germline

ChrX:18604540

Conflicting classifications of pathogenicity

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1356745875

3 SubmittersRCV002090856 RCV002290848 RCV003438938

NM_130839.5(UBE3A):c.1594G>T (p.Asp532Tyr)

SNV
Germline

Chr15:25370580

Likely pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2152819923

1 SubmittersRCV002226830

NM_130839.5(UBE3A):c.2498+1G>A

SNV
Germline

Chr15:25340084

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

rs_2152514807

1 SubmittersRCV002246802

NM_001323289.2(CDKL5):c.914G>A (p.Arg305His)

SNV
Germline

ChrX:18598550

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002378797 RCV003100107

NM_001323289.2(CDKL5):c.678G>A (p.Val226=)

SNV
Germline

ChrX:18588077

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002369399 RCV003098378

NM_001323289.2(CDKL5):c.100G>T (p.Glu34Ter)

SNV
Germline

ChrX:18564477

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003064672

NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)

SNV
Germline

ChrX:18588004

Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003037003 RCV003059895

NM_001323289.2(CDKL5):c.812T>C (p.Leu271Pro)

SNV
Germline

ChrX:18595415

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003050590

NM_001323289.2(CDKL5):c.533G>T (p.Arg178Leu)

SNV
Germline

ChrX:18584332

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003085978

NM_001323289.2(CDKL5):c.863C>G (p.Thr288Arg)

SNV
Germline

ChrX:18598499

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002512396 RCV003776058

NM_001323289.2(CDKL5):c.578A>T (p.Asp193Val)

SNV
Germline

ChrX:18587977

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003112433

NM_001323289.2(CDKL5):c.2376+2T>A

SNV
Germline

ChrX:18619968

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV002806805

NM_001323289.2(CDKL5):c.64+2T>G

SNV
Germline

ChrX:18507162

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV002811060

NM_001323289.2(CDKL5):c.825+1G>C

SNV
Germline

ChrX:18595429

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV002825693

NM_001323289.2(CDKL5):c.2152+2T>G

SNV
Germline

ChrX:18609572

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV002829253

NM_001323289.2(CDKL5):c.554+2T>C

SNV
Germline

ChrX:18584355

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV002875812

NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)

SNV
Germline

Chr15:25339170

Conflicting classifications of pathogenicity

Angelman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002926658 RCV003395535

NM_001323289.2(CDKL5):c.464-3C>G

SNV
Germline

ChrX:18584260

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV002894642

NM_001323289.2(CDKL5):c.934A>T (p.Lys312Ter)

SNV
Germline

ChrX:18598570

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV002894386

NM_001323289.2(CDKL5):c.1321C>T (p.Gln441Ter)

SNV
Germline

ChrX:18604245

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003055005

NM_001323289.2(CDKL5):c.463G>A (p.Gly155Ser)

SNV
Germline

ChrX:18581950

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003051655

NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)

SNV
Germline

ChrX:18598604

Pathogenic

Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003045107 RCV003336799

NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)

SNV
Germline

ChrX:18613156

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003144787 RCV003778832

NM_130839.5(UBE3A):c.779T>A (p.Leu260Ter)

SNV
Germline

Chr15:25371395

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003223601

NM_130839.5(UBE3A):c.898G>T (p.Glu300Ter)

SNV
Germline

Chr15:25371276

Pathogenic

Angelman syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003621454

NM_001323289.2(CDKL5):c.609G>C (p.Glu203Asp)

SNV
Germline

ChrX:18588008

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003783752

NM_001323289.2(CDKL5):c.2152+1G>T

SNV
Germline

ChrX:18609571

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003783753

NM_001323289.2(CDKL5):c.416A>C (p.Glu139Ala)

SNV
Germline

ChrX:18581903

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003807749

NM_001323289.2(CDKL5):c.74G>T (p.Gly25Val)

SNV
Germline

ChrX:18510829

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003807977

NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)

SNV
Germline

ChrX:18575466

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003806376

NM_001323289.2(CDKL5):c.625C>A (p.Pro209Thr)

SNV
Germline

ChrX:18588024

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003804532

NM_001323289.2(CDKL5):c.524G>A (p.Arg175Lys)

SNV
Germline

ChrX:18584323

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003805464

NM_001323289.2(CDKL5):c.397C>T (p.His133Tyr)

SNV
Germline

ChrX:18579962

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003802609

NM_001323289.2(CDKL5):c.2277G>A (p.Trp759Ter)

SNV
Germline

ChrX:18619867

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003802737

NM_001323289.2(CDKL5):c.2276+1G>T

SNV
Germline

ChrX:18613276

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003800278

NM_001323289.2(CDKL5):c.163G>T (p.Glu55Ter)

SNV
Germline

ChrX:18575371

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003808679

NM_001323289.2(CDKL5):c.404-6C>G

SNV
Germline

ChrX:18581885

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003801963

NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)

SNV
Germline

ChrX:18587984

Likely pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003802065

NM_001323289.2(CDKL5):c.515T>G (p.Val172Gly)

SNV
Germline

ChrX:18584314

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003809950

NM_001323289.2(CDKL5):c.61G>A (p.Glu21Lys)

SNV
Germline

ChrX:18507157

Pathogenic

Developmental and epileptic encephalopathy, 2
Angelman syndrome-like

Criteria Provided
Single Submitter

1 SubmittersRCV003812299