Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 23002 duplication UBE3A, 5-BP DUP -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 na -1 -1 na na 23003 single nucleotide variant UBE3A, IVS9, A-G, -8 -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 na -1 -1 na na 23004 deletion UBE3A, 2-BP DEL, 1344GT -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 na -1 -1 na na 23005 single nucleotide variant NM_130838.1(UBE3A):c.1249C>T (p.Arg417Ter) 111033594 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616012 25616012 G A 23005 single nucleotide variant NM_130838.1(UBE3A):c.1249C>T (p.Arg417Ter) 111033594 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370865 25370865 G A 23006 single nucleotide variant NM_130838.1(UBE3A):c.2304G>A (p.Trp768Ter) 111033595 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25585366 25585366 C T 23006 single nucleotide variant NM_130838.1(UBE3A):c.2304G>A (p.Trp768Ter) 111033595 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25340219 25340219 C T 23007 single nucleotide variant NM_130838.1(UBE3A):c.316A>C (p.Thr106Pro) 111033596 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616945 25616945 T G 23007 single nucleotide variant NM_130838.1(UBE3A):c.316A>C (p.Thr106Pro) 111033596 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371798 25371798 T G 23008 single nucleotide variant NM_130838.1(UBE3A):c.389T>C (p.Ile130Thr) 111033597 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616872 25616872 A G 23008 single nucleotide variant NM_130838.1(UBE3A):c.389T>C (p.Ile130Thr) 111033597 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371725 25371725 A G 23009 deletion UBE3A, 4-BP DEL, 3093AAGA -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 na -1 -1 na na 23010 deletion UBE3A, 2-BP DEL, 1930AG -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 na -1 -1 na na 23011 duplication UBE3A, 4-BP DUP, EX10, GAGG -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 na -1 -1 na na 39160 indel UBE3A, 15-BP DEL/7-BP INS, NT3240 -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 na -1 -1 na na 71808 copy number loss GRCh38/hg38 15q11.2(chr15:25337273-25381835)x1 -1 - 15 25582420 25626982 na na 71808 copy number loss GRCh38/hg38 15q11.2(chr15:25337273-25381835)x1 -1 - 15 25337273 25381835 na na 71808 copy number loss GRCh38/hg38 15q11.2(chr15:25337273-25381835)x1 -1 - 15 23133513 23178075 na na 72439 copy number loss GRCh38/hg38 15q11.2-12(chr15:25414685-25505084)x1 -1 - 15 25659832 25750231 na na 72439 copy number loss GRCh38/hg38 15q11.2-12(chr15:25414685-25505084)x1 -1 - 15 25414685 25505084 na na 72439 copy number loss GRCh38/hg38 15q11.2-12(chr15:25414685-25505084)x1 -1 - 15 23210925 23301324 na na 102150 single nucleotide variant NM_130838.1(UBE3A):c.1209C>T (p.Asp403=) 149506027 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25616052 25616052 G A 102150 single nucleotide variant NM_130838.1(UBE3A):c.1209C>T (p.Asp403=) 149506027 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25370905 25370905 G A 102151 indel NM_130838.1(UBE3A):c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs) 398124438 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809 15 25615713 25615714 CC TTGTCTAGCA 102151 indel NM_130838.1(UBE3A):c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs) 398124438 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809 15 25370566 25370567 CC TTGTCTAGCA 102152 single nucleotide variant NM_130838.1(UBE3A):c.1713A>G (p.Glu571=) 34670662 MedGen:CN169374 15 25602024 25602024 T C 102152 single nucleotide variant NM_130838.1(UBE3A):c.1713A>G (p.Glu571=) 34670662 MedGen:CN169374 15 25356877 25356877 T C 102153 single nucleotide variant NM_130838.1(UBE3A):c.1873T>C (p.Phe625Leu) 398124439 MedGen:CN169374 15 25601864 25601864 A G 102153 single nucleotide variant NM_130838.1(UBE3A):c.1873T>C (p.Phe625Leu) 398124439 MedGen:CN169374 15 25356717 25356717 A G 102154 single nucleotide variant NM_130838.1(UBE3A):c.2064+9T>C 79328837 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25601030 25601030 A G 102154 single nucleotide variant NM_130838.1(UBE3A):c.2064+9T>C 79328837 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25355883 25355883 A G 102155 deletion NM_130838.1(UBE3A):c.2503_2506delCTTA (p.Leu835Lysfs) 398124440 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809 15 25584337 25584340 TAAG - 102155 deletion NM_130838.1(UBE3A):c.2503_2506delCTTA (p.Leu835Lysfs) 398124440 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809 15 25339190 25339193 TAAG - 102156 single nucleotide variant NM_130838.1(UBE3A):c.2558A>G (p.Ter853=) 76794400 MedGen:CN169374 15 25584285 25584285 T C 102156 single nucleotide variant NM_130838.1(UBE3A):c.2558A>G (p.Ter853=) 76794400 MedGen:CN169374 15 25339138 25339138 T C 102157 single nucleotide variant NM_130838.1(UBE3A):c.313T>C (p.Leu105=) 61734190 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25616948 25616948 A G 102157 single nucleotide variant NM_130838.1(UBE3A):c.313T>C (p.Leu105=) 61734190 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25371801 25371801 A G 102158 single nucleotide variant NM_130838.1(UBE3A):c.417A>T (p.Ala139=) 28528079 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25616844 25616844 T A 102158 single nucleotide variant NM_130838.1(UBE3A):c.417A>T (p.Ala139=) 28528079 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25371697 25371697 T A 102159 single nucleotide variant NM_130838.1(UBE3A):c.532G>A (p.Ala178Thr) 147145506 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25616729 25616729 C T 102159 single nucleotide variant NM_130838.1(UBE3A):c.532G>A (p.Ala178Thr) 147145506 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25371582 25371582 C T 102160 deletion NM_130838.1(UBE3A):c.888_890delAGC (p.Ala297del) 398124441 MedGen:CN169374 15 25616371 25616373 GCT - 102160 deletion NM_130838.1(UBE3A):c.888_890delAGC (p.Ala297del) 398124441 MedGen:CN169374 15 25371224 25371226 GCT - 139893 deletion NM_130838.1(UBE3A):c.263_264delTA (p.Ile88Lysfs) 587780567 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25620649 25620650 TA - 139894 duplication NM_130838.1(UBE3A):c.275dupA (p.Lys93Glufs) 587780568 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25375491 25375491 T TT 139894 duplication NM_130838.1(UBE3A):c.275dupA (p.Lys93Glufs) 587780568 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25620638 25620638 T TT 139895 deletion NM_130838.1(UBE3A):c.277_280delAAAG (p.Lys93Alafs) 587780569 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25375486 25375489 CTTT - 139895 deletion NM_130838.1(UBE3A):c.277_280delAAAG (p.Lys93Alafs) 587780569 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25620633 25620636 CTTT - 139893 deletion NM_130838.1(UBE3A):c.263_264delTA (p.Ile88Lysfs) 587780567 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25375502 25375503 TA - 139896 deletion NM_130838.1(UBE3A):c.312_315delCTTA (p.Tyr104Terfs) 587780570 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371799 25371802 TAAG - 139896 deletion NM_130838.1(UBE3A):c.312_315delCTTA (p.Tyr104Terfs) 587780570 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616946 25616949 TAAG - 139891 deletion NM_130838.1(UBE3A):c.99delC (p.Cys34Valfs) 587780565 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25375667 25375667 G - 139891 deletion NM_130838.1(UBE3A):c.99delC (p.Cys34Valfs) 587780565 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25620814 25620814 G - 139892 duplication NM_130838.1(UBE3A):c.199_202dupAAAG (p.Gly68Glufs) 587780566 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25375564 25375567 CTTT CTTTCTTT 139892 duplication NM_130838.1(UBE3A):c.199_202dupAAAG (p.Gly68Glufs) 587780566 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25620711 25620714 CTTT CTTTCTTT 139897 deletion NM_130838.1(UBE3A):c.362_363delAG (p.Glu121Glyfs) 587780571 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371751 25371752 CT - 139897 deletion NM_130838.1(UBE3A):c.362_363delAG (p.Glu121Glyfs) 587780571 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616898 25616899 CT - 139898 duplication NM_130838.1(UBE3A):c.403dupT (p.Ser135Phefs) 587780572 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371711 25371711 A AA 139898 duplication NM_130838.1(UBE3A):c.403dupT (p.Ser135Phefs) 587780572 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616858 25616858 A AA 139899 deletion NM_130838.1(UBE3A):c.547delG (p.Asp183Thrfs) 587780573 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616714 25616714 C - 139899 deletion NM_130838.1(UBE3A):c.547delG (p.Asp183Thrfs) 587780573 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371567 25371567 C - 139900 duplication NM_130838.1(UBE3A):c.580dupA (p.Ser194Lysfs) 587780574 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371534 25371534 T TT 139900 duplication NM_130838.1(UBE3A):c.580dupA (p.Ser194Lysfs) 587780574 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616681 25616681 T TT 139901 single nucleotide variant NM_130838.1(UBE3A):c.688G>T (p.Glu230Ter) 587780575 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371426 25371426 C A 139901 single nucleotide variant NM_130838.1(UBE3A):c.688G>T (p.Glu230Ter) 587780575 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616573 25616573 C A 139902 single nucleotide variant NM_130838.1(UBE3A):c.717T>A (p.Tyr239Ter) 587780576 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371397 25371397 A T 139902 single nucleotide variant NM_130838.1(UBE3A):c.717T>A (p.Tyr239Ter) 587780576 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616544 25616544 A T 139903 single nucleotide variant NM_130838.1(UBE3A):c.2T>C (p.Met1Thr) 587780577 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25405461 25405461 A G 139903 single nucleotide variant NM_130838.1(UBE3A):c.2T>C (p.Met1Thr) 587780577 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25650608 25650608 A G 139904 single nucleotide variant NM_130838.1(UBE3A):c.302-2A>T 587780578 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371814 25371814 T A 139904 single nucleotide variant NM_130838.1(UBE3A):c.302-2A>T 587780578 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616961 25616961 T A 139905 single nucleotide variant NM_130838.1(UBE3A):c.1694-2A>G 587780579 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356898 25356898 T C 139905 single nucleotide variant NM_130838.1(UBE3A):c.1694-2A>G 587780579 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25602045 25602045 T C 139906 single nucleotide variant NM_130838.1(UBE3A):c.2065-2A>C 587780580 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354685 25354685 T G 139906 single nucleotide variant NM_130838.1(UBE3A):c.2065-2A>C 587780580 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599832 25599832 T G 139907 single nucleotide variant NM_130838.1(UBE3A):c.2558A>T (p.Ter853Leu) 76794400 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339138 25339138 T A 139907 single nucleotide variant NM_130838.1(UBE3A):c.2558A>T (p.Ter853Leu) 76794400 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584285 25584285 T A 139908 single nucleotide variant NM_130838.1(UBE3A):c.635A>T (p.Asp212Val) 587780581 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371479 25371479 T A 139908 single nucleotide variant NM_130838.1(UBE3A):c.635A>T (p.Asp212Val) 587780581 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616626 25616626 T A 139909 single nucleotide variant NM_130838.1(UBE3A):c.710T>C (p.Leu237Pro) 587780582 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371404 25371404 A G 139909 single nucleotide variant NM_130838.1(UBE3A):c.710T>C (p.Leu237Pro) 587780582 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616551 25616551 A G 139910 single nucleotide variant NM_130838.1(UBE3A):c.788T>G (p.Leu263Trp) 587780583 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371326 25371326 A C 139910 single nucleotide variant NM_130838.1(UBE3A):c.788T>G (p.Leu263Trp) 587780583 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616473 25616473 A C 139911 single nucleotide variant NM_130838.1(UBE3A):c.1373C>T (p.Pro458Leu) 587780584 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370741 25370741 G A 139911 single nucleotide variant NM_130838.1(UBE3A):c.1373C>T (p.Pro458Leu) 587780584 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615888 25615888 G A 139912 deletion NM_130838.1(UBE3A):c.1365_1379delGACATGTCCCTTTAT (p.Met455_Phe459del) 587780585 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370735 25370749 ATAAAGGGACATGTC - 139912 deletion NM_130838.1(UBE3A):c.1365_1379delGACATGTCCCTTTAT (p.Met455_Phe459del) 587780585 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615882 25615896 ATAAAGGGACATGTC - 141584 single nucleotide variant NM_130838.1(UBE3A):c.-6498G>A 541619343 MedGen:CN169374 15 25411960 25411960 C T 141584 single nucleotide variant NM_130838.1(UBE3A):c.-6498G>A 541619343 MedGen:CN169374 15 25657107 25657107 C T 141585 single nucleotide variant NM_130838.1(UBE3A):c.558A>T (p.Ala186=) 143484751 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25371556 25371556 T A 141585 single nucleotide variant NM_130838.1(UBE3A):c.558A>T (p.Ala186=) 143484751 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25616703 25616703 T A 141586 single nucleotide variant NM_130838.1(UBE3A):c.1119T>C (p.Asp373=) 143000400 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25370995 25370995 A G 141586 single nucleotide variant NM_130838.1(UBE3A):c.1119T>C (p.Asp373=) 143000400 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25616142 25616142 A G 141587 single nucleotide variant NM_130838.1(UBE3A):c.1125A>G (p.Glu375=) 114056442 MedGen:CN169374 15 25370989 25370989 T C 141587 single nucleotide variant NM_130838.1(UBE3A):c.1125A>G (p.Glu375=) 114056442 MedGen:CN169374 15 25616136 25616136 T C 141588 single nucleotide variant NM_130838.1(UBE3A):c.1344A>G (p.Thr448=) 150331504 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25370770 25370770 T C 141588 single nucleotide variant NM_130838.1(UBE3A):c.1344A>G (p.Thr448=) 150331504 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25615917 25615917 T C 141589 single nucleotide variant NM_130838.1(UBE3A):c.1707C>T (p.Tyr569=) 139082033 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25356883 25356883 G A 141589 single nucleotide variant NM_130838.1(UBE3A):c.1707C>T (p.Tyr569=) 139082033 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25602030 25602030 G A 141590 single nucleotide variant NM_130838.1(UBE3A):c.2355T>C (p.Phe785=) 587780991 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25340168 25340168 A G 141590 single nucleotide variant NM_130838.1(UBE3A):c.2355T>C (p.Phe785=) 587780991 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25585315 25585315 A G 154503 copy number gain GRCh38/hg38 15q11.2(chr15:25337273-25342717)x3 -1 - 15 25582420 25587864 na na 154503 copy number gain GRCh38/hg38 15q11.2(chr15:25337273-25342717)x3 -1 - 15 25337273 25342717 na na 154503 copy number gain GRCh38/hg38 15q11.2(chr15:25337273-25342717)x3 -1 - 15 23133513 23138957 na na 157464 copy number loss GRCh38/hg38 15q11.2-12(chr15:25337273-25553323)x1 -1 - 15 25582420 25798470 na na 157464 copy number loss GRCh38/hg38 15q11.2-12(chr15:25337273-25553323)x1 -1 - 15 25337273 25553323 na na 157464 copy number loss GRCh38/hg38 15q11.2-12(chr15:25337273-25553323)x1 -1 - 15 23133513 23349563 na na 159593 copy number gain GRCh38/hg38 15q11.2(chr15:25334870-25351819)x3 -1 - 15 25580017 25596966 na na 159593 copy number gain GRCh38/hg38 15q11.2(chr15:25334870-25351819)x3 -1 - 15 25334870 25351819 na na 159593 copy number gain GRCh38/hg38 15q11.2(chr15:25334870-25351819)x3 -1 - 15 23131110 23148059 na na 165745 single nucleotide variant NM_130838.1(UBE3A):c.750T>A (p.Tyr250Ter) 587781190 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371364 25371364 A T 165745 single nucleotide variant NM_130838.1(UBE3A):c.750T>A (p.Tyr250Ter) 587781190 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616511 25616511 A T 165746 single nucleotide variant NM_130838.1(UBE3A):c.961C>T (p.Gln321Ter) 587781191 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371153 25371153 G A 165746 single nucleotide variant NM_130838.1(UBE3A):c.961C>T (p.Gln321Ter) 587781191 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616300 25616300 G A 165747 deletion NM_130838.1(UBE3A):c.972_978delTACTTAT (p.Thr325Lysfs) 587781192 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371136 25371142 ATAAGTA - 165747 deletion NM_130838.1(UBE3A):c.972_978delTACTTAT (p.Thr325Lysfs) 587781192 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616283 25616289 ATAAGTA - 165748 duplication NM_130838.1(UBE3A):c.1067dupA (p.Tyr356Terfs) 587781193 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371047 25371047 T TT 165748 duplication NM_130838.1(UBE3A):c.1067dupA (p.Tyr356Terfs) 587781193 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616194 25616194 T TT 165749 duplication NM_130838.1(UBE3A):c.1076dupA (p.Asn359Lysfs) 587781194 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371038 25371038 T TT 165749 duplication NM_130838.1(UBE3A):c.1076dupA (p.Asn359Lysfs) 587781194 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616185 25616185 T TT 165750 single nucleotide variant NM_130838.1(UBE3A):c.1114G>T (p.Glu372Ter) 587781195 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371000 25371000 C A 165750 single nucleotide variant NM_130838.1(UBE3A):c.1114G>T (p.Glu372Ter) 587781195 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616147 25616147 C A 165751 single nucleotide variant NM_130838.1(UBE3A):c.1201C>T (p.Arg401Ter) 587781196 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370913 25370913 G A 165751 single nucleotide variant NM_130838.1(UBE3A):c.1201C>T (p.Arg401Ter) 587781196 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616060 25616060 G A 165752 single nucleotide variant NM_130838.1(UBE3A):c.1270G>T (p.Glu424Ter) 587781197 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370844 25370844 C A 165752 single nucleotide variant NM_130838.1(UBE3A):c.1270G>T (p.Glu424Ter) 587781197 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615991 25615991 C A 165753 single nucleotide variant NM_130838.1(UBE3A):c.1285G>T (p.Glu429Ter) 587781198 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370829 25370829 C A 165753 single nucleotide variant NM_130838.1(UBE3A):c.1285G>T (p.Glu429Ter) 587781198 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615976 25615976 C A 165754 duplication NM_130838.1(UBE3A):c.1355dupT (p.Ser453Leufs) 587781199 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370759 25370759 A AA 165754 duplication NM_130838.1(UBE3A):c.1355dupT (p.Ser453Leufs) 587781199 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615906 25615906 A AA 165755 deletion NM_130838.1(UBE3A):c.1361_1362delTT (p.Phe454Tyrfs) 587781200 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370752 25370753 AA - 165755 deletion NM_130838.1(UBE3A):c.1361_1362delTT (p.Phe454Tyrfs) 587781200 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615899 25615900 AA - 165756 single nucleotide variant NM_130838.1(UBE3A):c.1371T>A (p.Cys457Ter) 587781201 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370743 25370743 A T 165756 single nucleotide variant NM_130838.1(UBE3A):c.1371T>A (p.Cys457Ter) 587781201 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615890 25615890 A T 165757 deletion NM_130838.1(UBE3A):c.1387delG (p.Ala463Leufs) 587781202 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370727 25370727 C - 165757 deletion NM_130838.1(UBE3A):c.1387delG (p.Ala463Leufs) 587781202 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615874 25615874 C - 165758 deletion NM_130838.1(UBE3A):c.1505_1506delTC (p.Leu502Glnfs) 587781203 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370608 25370609 GA - 165758 deletion NM_130838.1(UBE3A):c.1505_1506delTC (p.Leu502Glnfs) 587781203 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615755 25615756 GA - 165759 duplication NM_130838.1(UBE3A):c.1537dupG (p.Ala513Glyfs) 587781204 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370577 25370577 C CC 165759 duplication NM_130838.1(UBE3A):c.1537dupG (p.Ala513Glyfs) 587781204 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615724 25615724 C CC 165760 duplication NM_130838.1(UBE3A):c.1571dupA (p.Asn524Lysfs) 587781205 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360505 25360505 T TT 165760 duplication NM_130838.1(UBE3A):c.1571dupA (p.Asn524Lysfs) 587781205 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605652 25605652 T TT 165761 duplication NM_130838.1(UBE3A):c.1608dupT (p.Glu537Terfs) 587781206 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360468 25360468 A AA 165761 duplication NM_130838.1(UBE3A):c.1608dupT (p.Glu537Terfs) 587781206 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605615 25605615 A AA 165762 duplication NM_130838.1(UBE3A):c.1639_1642dupGTTT (p.Ser548Cysfs) 587781207 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360434 25360437 AAAC AAACAAAC 165762 duplication NM_130838.1(UBE3A):c.1639_1642dupGTTT (p.Ser548Cysfs) 587781207 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605581 25605584 AAAC AAACAAAC 165763 single nucleotide variant NM_130838.1(UBE3A):c.1730G>A (p.Trp577Ter) 587781208 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356860 25356860 C T 165763 single nucleotide variant NM_130838.1(UBE3A):c.1730G>A (p.Trp577Ter) 587781208 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25602007 25602007 C T 165764 deletion NM_130838.1(UBE3A):c.1814_1824delTACTGGATGTA (p.Ile605Thrfs) 587781209 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356766 25356776 TACATCCAGTA - 165764 deletion NM_130838.1(UBE3A):c.1814_1824delTACTGGATGTA (p.Ile605Thrfs) 587781209 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601913 25601923 TACATCCAGTA - 165765 deletion NM_130838.1(UBE3A):c.1912_1913delAG (p.Ser638Phefs) 587781210 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356043 25356044 CT - 165765 deletion NM_130838.1(UBE3A):c.1912_1913delAG (p.Ser638Phefs) 587781210 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601190 25601191 CT - 165766 deletion NM_130838.1(UBE3A):c.1956_1963delCATGATGA (p.Met653Hisfs) 587781211 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25355993 25356000 TCATCATG - 165766 deletion NM_130838.1(UBE3A):c.1956_1963delCATGATGA (p.Met653Hisfs) 587781211 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601140 25601147 TCATCATG - 165767 duplication NM_130838.1(UBE3A):c.1957dupA (p.Met653Asnfs) 587781212 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25355999 25355999 T TT 165767 duplication NM_130838.1(UBE3A):c.1957dupA (p.Met653Asnfs) 587781212 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601146 25601146 T TT 165768 single nucleotide variant NM_130838.1(UBE3A):c.1972C>T (p.Gln658Ter) 587781213 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25355984 25355984 G A 165768 single nucleotide variant NM_130838.1(UBE3A):c.1972C>T (p.Gln658Ter) 587781213 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601131 25601131 G A 165769 deletion NM_130838.1(UBE3A):c.1972delC (p.Gln658Argfs) 587781214 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25355984 25355984 G - 165769 deletion NM_130838.1(UBE3A):c.1972delC (p.Gln658Argfs) 587781214 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601131 25601131 G - 165770 insertion NM_130838.1(UBE3A):c.2102_2103insTATT (p.Lys701Asnfs) 587781215 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354645 25354646 - AATA 165770 insertion NM_130838.1(UBE3A):c.2102_2103insTATT (p.Lys701Asnfs) 587781215 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599792 25599793 - AATA 165771 duplication NM_130838.1(UBE3A):c.2170_2174dupAAGTA (p.Tyr725Terfs) 587781216 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354574 25354578 TACTT TACTTTACTT 165771 duplication NM_130838.1(UBE3A):c.2170_2174dupAAGTA (p.Tyr725Terfs) 587781216 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599721 25599725 TACTT TACTTTACTT 165772 single nucleotide variant NM_130838.1(UBE3A):c.2177T>A (p.Leu726Ter) 587781217 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354571 25354571 A T 165772 single nucleotide variant NM_130838.1(UBE3A):c.2177T>A (p.Leu726Ter) 587781217 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599718 25599718 A T 165773 deletion NM_130838.1(UBE3A):c.2186delC (p.Pro729Glnfs) 587781218 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354562 25354562 G - 165773 deletion NM_130838.1(UBE3A):c.2186delC (p.Pro729Glnfs) 587781218 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599709 25599709 G - 165774 single nucleotide variant NM_130838.1(UBE3A):c.2233C>T (p.Gln745Ter) 587781219 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354414 25354414 G A 165774 single nucleotide variant NM_130838.1(UBE3A):c.2233C>T (p.Gln745Ter) 587781219 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599561 25599561 G A 165775 single nucleotide variant NM_130838.1(UBE3A):c.2245G>T (p.Glu749Ter) 587781220 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354402 25354402 C A 165775 single nucleotide variant NM_130838.1(UBE3A):c.2245G>T (p.Glu749Ter) 587781220 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599549 25599549 C A 165776 deletion NM_130838.1(UBE3A):c.2245delG (p.Glu749Lysfs) 587781221 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354402 25354402 C - 165776 deletion NM_130838.1(UBE3A):c.2245delG (p.Glu749Lysfs) 587781221 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599549 25599549 C - 165777 duplication NM_130838.1(UBE3A):c.2247_2251dupAACTA (p.Thr751Lysfs) 587781222 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354396 25354400 TAGTT TAGTTTAGTT 165777 duplication NM_130838.1(UBE3A):c.2247_2251dupAACTA (p.Thr751Lysfs) 587781222 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599543 25599547 TAGTT TAGTTTAGTT 165778 duplication NM_130838.1(UBE3A):c.2289dupG (p.Ile764Aspfs) 587781223 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354358 25354358 C CC 165778 duplication NM_130838.1(UBE3A):c.2289dupG (p.Ile764Aspfs) 587781223 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599505 25599505 C CC 165779 deletion NM_130838.1(UBE3A):c.2344_2345delTT (p.Phe782Leufs) 587781224 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25340178 25340179 AA - 165779 deletion NM_130838.1(UBE3A):c.2344_2345delTT (p.Phe782Leufs) 587781224 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25585325 25585326 AA - 165780 deletion NM_130838.1(UBE3A):c.2370_2373delCAGA (p.Asp790Glufs) 587781225 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25340150 25340153 TCTG - 165780 deletion NM_130838.1(UBE3A):c.2370_2373delCAGA (p.Asp790Glufs) 587781225 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25585297 25585300 TCTG - 165781 duplication NM_130838.1(UBE3A):c.2463_2521dup59 (p.Lys841Ilefs) -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339175 25339233 na na 165781 duplication NM_130838.1(UBE3A):c.2463_2521dup59 (p.Lys841Ilefs) -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584322 25584380 na na 165782 single nucleotide variant NM_130838.1(UBE3A):c.2474T>A (p.Leu825Ter) 587781226 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339222 25339222 A T 165782 single nucleotide variant NM_130838.1(UBE3A):c.2474T>A (p.Leu825Ter) 587781226 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584369 25584369 A T 165783 deletion NM_130838.1(UBE3A):c.2478delT (p.Pro827Argfs) 587781227 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339218 25339218 A - 165783 deletion NM_130838.1(UBE3A):c.2478delT (p.Pro827Argfs) 587781227 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584365 25584365 A - 165784 deletion NM_130838.1(UBE3A):c.2487_2554del68 (p.Ser830Valfs) -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339142 25339209 na na 165784 deletion NM_130838.1(UBE3A):c.2487_2554del68 (p.Ser830Valfs) -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584289 25584356 na na 165785 single nucleotide variant NM_130838.1(UBE3A):c.2489C>G (p.Ser830Ter) 587781228 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339207 25339207 G C 165785 single nucleotide variant NM_130838.1(UBE3A):c.2489C>G (p.Ser830Ter) 587781228 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584354 25584354 G C 165786 duplication NM_130838.1(UBE3A):c.2497_2500dupGAAA (p.Lys834Argfs) 587781229 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339196 25339199 TTTC TTTCTTTC 165786 duplication NM_130838.1(UBE3A):c.2497_2500dupGAAA (p.Lys834Argfs) 587781229 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584343 25584346 TTTC TTTCTTTC 165787 duplication NM_130838.1(UBE3A):c.2503_2506dupCTTA (p.Lys836Thrfs) 587781230 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339190 25339193 TAAG TAAGTAAG 165787 duplication NM_130838.1(UBE3A):c.2503_2506dupCTTA (p.Lys836Thrfs) 587781230 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584337 25584340 TAAG TAAGTAAG 165788 deletion NM_130838.1(UBE3A):c.2507_2508delAA (p.Lys836Argfs) 587781231 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339188 25339189 TT - 165788 deletion NM_130838.1(UBE3A):c.2507_2508delAA (p.Lys836Argfs) 587781231 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584335 25584336 TT - 165789 deletion NM_130838.1(UBE3A):c.2556_*6delGTAAAACAAA 587781232 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25339131 25339140 TTTGTTTTAC - 165789 deletion NM_130838.1(UBE3A):c.2556_*6delGTAAAACAAA 587781232 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25584278 25584287 TTTGTTTTAC - 165790 single nucleotide variant NM_130838.1(UBE3A):c.1633G>A (p.Gly545Arg) 587781233 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360443 25360443 C T 165790 single nucleotide variant NM_130838.1(UBE3A):c.1633G>A (p.Gly545Arg) 587781233 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605590 25605590 C T 165791 deletion NM_130838.1(UBE3A):c.1745_1747delCTT (p.Ser582del) 587781234 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356843 25356845 AAG - 165791 deletion NM_130838.1(UBE3A):c.1745_1747delCTT (p.Ser582del) 587781234 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601990 25601992 AAG - 165792 single nucleotide variant NM_130838.1(UBE3A):c.1750G>C (p.Glu584Gln) 587781235 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356840 25356840 C G 165792 single nucleotide variant NM_130838.1(UBE3A):c.1750G>C (p.Glu584Gln) 587781235 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601987 25601987 C G 165793 single nucleotide variant NM_130838.1(UBE3A):c.1967C>T (p.Thr656Ile) 587781236 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25355989 25355989 G A 165793 single nucleotide variant NM_130838.1(UBE3A):c.1967C>T (p.Thr656Ile) 587781236 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601136 25601136 G A 165794 single nucleotide variant NM_130838.1(UBE3A):c.2069T>G (p.Phe690Cys) 587781237 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354679 25354679 A C 165794 single nucleotide variant NM_130838.1(UBE3A):c.2069T>G (p.Phe690Cys) 587781237 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599826 25599826 A C 165795 deletion NM_130838.1(UBE3A):c.2406_2408delGAT (p.Met802del) 587781238 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25585262 25585264 ATC - 165795 deletion NM_130838.1(UBE3A):c.2406_2408delGAT (p.Met802del) 587781238 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25340115 25340117 ATC - 165796 single nucleotide variant NM_130838.1(UBE3A):c.2480C>T (p.Pro827Leu) 587781239 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339216 25339216 G A 165796 single nucleotide variant NM_130838.1(UBE3A):c.2480C>T (p.Pro827Leu) 587781239 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584363 25584363 G A 165797 duplication NM_130838.1(UBE3A):c.2487_2507dup21 (p.Leu835_Lys836insAsnSerSerLysGluLysLeu) 587781240 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339189 25339209 na na 165797 duplication NM_130838.1(UBE3A):c.2487_2507dup21 (p.Leu835_Lys836insAsnSerSerLysGluLysLeu) 587781240 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584336 25584356 na na 165798 single nucleotide variant NM_130838.1(UBE3A):c.317C>A (p.Thr106Lys) 587781241 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371797 25371797 G T 165798 single nucleotide variant NM_130838.1(UBE3A):c.317C>A (p.Thr106Lys) 587781241 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616944 25616944 G T 165799 single nucleotide variant NM_130838.1(UBE3A):c.710T>A (p.Leu237His) 587780582 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371404 25371404 A T 165799 single nucleotide variant NM_130838.1(UBE3A):c.710T>A (p.Leu237His) 587780582 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616551 25616551 A T 165800 single nucleotide variant NM_130838.1(UBE3A):c.1304T>C (p.Leu435Pro) 587781242 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370810 25370810 A G 165800 single nucleotide variant NM_130838.1(UBE3A):c.1304T>C (p.Leu435Pro) 587781242 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615957 25615957 A G 165801 single nucleotide variant NM_130838.1(UBE3A):c.1430G>C (p.Arg477Pro) 587781243 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370684 25370684 C G 165801 single nucleotide variant NM_130838.1(UBE3A):c.1430G>C (p.Arg477Pro) 587781243 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615831 25615831 C G 165802 single nucleotide variant NM_130838.1(UBE3A):c.1697T>A (p.Met566Lys) 587781244 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356893 25356893 A T 165802 single nucleotide variant NM_130838.1(UBE3A):c.1697T>A (p.Met566Lys) 587781244 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25602040 25602040 A T 165922 deletion NM_130838.1(UBE3A):c.1629_1631delTGA (p.Asp543del) 587782909 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605592 25605594 TCA - 165919 single nucleotide variant NM_130838.1(UBE3A):c.2+20G>A 587782906 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25405441 25405441 C T 165919 single nucleotide variant NM_130838.1(UBE3A):c.2+20G>A 587782906 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25650588 25650588 C T 165920 single nucleotide variant NM_130838.1(UBE3A):c.349T>C (p.Cys117Arg) 587782907 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616912 25616912 A G 165920 single nucleotide variant NM_130838.1(UBE3A):c.349T>C (p.Cys117Arg) 587782907 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371765 25371765 A G 165921 single nucleotide variant NM_130838.1(UBE3A):c.809A>C (p.Asn270Thr) 587782908 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371305 25371305 T G 165921 single nucleotide variant NM_130838.1(UBE3A):c.809A>C (p.Asn270Thr) 587782908 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616452 25616452 T G 165922 deletion NM_130838.1(UBE3A):c.1629_1631delTGA (p.Asp543del) 587782909 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360445 25360447 TCA - 165923 single nucleotide variant NM_130838.1(UBE3A):c.2221-42T>C 543571933 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354468 25354468 A G 165923 single nucleotide variant NM_130838.1(UBE3A):c.2221-42T>C 543571933 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599615 25599615 A G 165924 single nucleotide variant NM_130838.1(UBE3A):c.2284G>A (p.Val762Ile) 587782910 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809;MedGen:CN169374 15 25599510 25599510 C T 165924 single nucleotide variant NM_130838.1(UBE3A):c.2284G>A (p.Val762Ile) 587782910 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809;MedGen:CN169374 15 25354363 25354363 C T 165925 single nucleotide variant NM_130838.1(UBE3A):c.2294+20A>G 587782911 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599480 25599480 T C 165925 single nucleotide variant NM_130838.1(UBE3A):c.2294+20A>G 587782911 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354333 25354333 T C 165926 single nucleotide variant NM_130838.1(UBE3A):c.2439-31T>G 587782912 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339288 25339288 A C 165926 single nucleotide variant NM_130838.1(UBE3A):c.2439-31T>G 587782912 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584435 25584435 A C 165927 duplication NM_130838.1(UBE3A):c.2439-37dup 587782913 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584441 25584441 T TT 165927 duplication NM_130838.1(UBE3A):c.2439-37dup 587782913 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339294 25339294 T TT 165928 single nucleotide variant NM_130838.1(UBE3A):c.2439-40C>T 373042168 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339297 25339297 G A 165928 single nucleotide variant NM_130838.1(UBE3A):c.2439-40C>T 373042168 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584444 25584444 G A 165929 single nucleotide variant NM_130838.1(UBE3A):c.301+29T>C 587782914 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25620583 25620583 A G 165929 single nucleotide variant NM_130838.1(UBE3A):c.301+29T>C 587782914 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25375436 25375436 A G 165930 single nucleotide variant NM_130838.1(UBE3A):c.301+30G>A 367646993 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25375435 25375435 C T 165930 single nucleotide variant NM_130838.1(UBE3A):c.301+30G>A 367646993 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25620582 25620582 C T 165931 single nucleotide variant NM_130838.1(UBE3A):c.398T>G (p.Val133Gly) 587782915 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371716 25371716 A C 165931 single nucleotide variant NM_130838.1(UBE3A):c.398T>G (p.Val133Gly) 587782915 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616863 25616863 A C 165932 single nucleotide variant NM_130838.1(UBE3A):c.1004G>C (p.Ser335Thr) 141984760 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616257 25616257 C G 165932 single nucleotide variant NM_130838.1(UBE3A):c.1004G>C (p.Ser335Thr) 141984760 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371110 25371110 C G 165933 single nucleotide variant NM_130838.1(UBE3A):c.1434G>A (p.Met478Ile) 587782916 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615827 25615827 C T 165933 single nucleotide variant NM_130838.1(UBE3A):c.1434G>A (p.Met478Ile) 587782916 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370680 25370680 C T 165934 single nucleotide variant NM_130838.1(UBE3A):c.1548+34T>C 587782917 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615679 25615679 A G 165934 single nucleotide variant NM_130838.1(UBE3A):c.1548+34T>C 587782917 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370532 25370532 A G 165935 single nucleotide variant NM_130838.1(UBE3A):c.1693+32G>A 373746667 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360351 25360351 C T 165935 single nucleotide variant NM_130838.1(UBE3A):c.1693+32G>A 373746667 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605498 25605498 C T 165936 single nucleotide variant NM_130838.1(UBE3A):c.1762C>G (p.Gln588Glu) 587782918 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601975 25601975 G C 165936 single nucleotide variant NM_130838.1(UBE3A):c.1762C>G (p.Gln588Glu) 587782918 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356828 25356828 G C 165937 single nucleotide variant NM_130838.1(UBE3A):c.1763A>C (p.Gln588Pro) 587782919 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356827 25356827 T G 165937 single nucleotide variant NM_130838.1(UBE3A):c.1763A>C (p.Gln588Pro) 587782919 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601974 25601974 T G 165938 single nucleotide variant NM_130838.1(UBE3A):c.2018T>G (p.Leu673Arg) 587782920 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601085 25601085 A C 165938 single nucleotide variant NM_130838.1(UBE3A):c.2018T>G (p.Leu673Arg) 587782920 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25355938 25355938 A C 165939 deletion NM_130838.1(UBE3A):c.3-19_3-17delGTT 587782921 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25375780 25375782 AAC - 165939 deletion NM_130838.1(UBE3A):c.3-19_3-17delGTT 587782921 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25620927 25620929 AAC - 165940 single nucleotide variant NM_130838.1(UBE3A):c.611T>C (p.Leu204Ser) 587782922 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25371503 25371503 A G 165940 single nucleotide variant NM_130838.1(UBE3A):c.611T>C (p.Leu204Ser) 587782922 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25616650 25616650 A G 165941 single nucleotide variant NM_130838.1(UBE3A):c.755A>G (p.Asn252Ser) 139928148 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616506 25616506 T C 165941 single nucleotide variant NM_130838.1(UBE3A):c.755A>G (p.Asn252Ser) 139928148 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371359 25371359 T C 165942 single nucleotide variant NM_130838.1(UBE3A):c.855A>G (p.Leu285=) 587782923 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616406 25616406 T C 165942 single nucleotide variant NM_130838.1(UBE3A):c.855A>G (p.Leu285=) 587782923 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371259 25371259 T C 165943 single nucleotide variant NM_130838.1(UBE3A):c.2031T>C (p.Gly677=) 587782924 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25355925 25355925 A G 165943 single nucleotide variant NM_130838.1(UBE3A):c.2031T>C (p.Gly677=) 587782924 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601072 25601072 A G 165944 single nucleotide variant NM_130838.1(UBE3A):c.2036A>C (p.Lys679Thr) 202161423 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809;MedGen:CN169374 15 25601067 25601067 T G 165944 single nucleotide variant NM_130838.1(UBE3A):c.2036A>C (p.Lys679Thr) 202161423 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809;MedGen:CN169374 15 25355920 25355920 T G 165945 single nucleotide variant NM_130838.1(UBE3A):c.2064+19T>G 587782925 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25355873 25355873 A C 165945 single nucleotide variant NM_130838.1(UBE3A):c.2064+19T>G 587782925 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601020 25601020 A C 165946 deletion NM_130838.1(UBE3A):c.2439-34delG 564915971 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584438 25584438 C - 165946 deletion NM_130838.1(UBE3A):c.2439-34delG 564915971 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339291 25339291 C - 165947 deletion NM_130838.1(UBE3A):c.*13_*17delCAAAA 587782926 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339120 25339124 TTTTG - 165947 deletion NM_130838.1(UBE3A):c.*13_*17delCAAAA 587782926 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584267 25584271 TTTTG - 165948 deletion NM_130838.1(UBE3A):c.*46delA 368425414 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339091 25339091 T - 165948 deletion NM_130838.1(UBE3A):c.*46delA 368425414 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584238 25584238 T - 166474 single nucleotide variant NM_130838.1(UBE3A):c.2503C>T (p.Leu835Phe) 587783097 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809 15 25339193 25339193 G A 166474 single nucleotide variant NM_130838.1(UBE3A):c.2503C>T (p.Leu835Phe) 587783097 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809 15 25584340 25584340 G A 166475 single nucleotide variant NM_130839.2(UBE3A):c.175C>T (p.Arg59Cys) 587783098 MedGen:CN221809 15 25375651 25375651 G A 166475 single nucleotide variant NM_130839.2(UBE3A):c.175C>T (p.Arg59Cys) 587783098 MedGen:CN221809 15 25620798 25620798 G A 166476 single nucleotide variant NM_130839.2(UBE3A):c.299C>T (p.Ala100Val) 587783099 MedGen:CN221809 15 25375527 25375527 G A 166476 single nucleotide variant NM_130839.2(UBE3A):c.299C>T (p.Ala100Val) 587783099 MedGen:CN221809 15 25620674 25620674 G A 166477 single nucleotide variant NM_130838.1(UBE3A):c.352A>G (p.Arg118Gly) 587783100 MedGen:CN169374 15 25371762 25371762 T C 166477 single nucleotide variant NM_130838.1(UBE3A):c.352A>G (p.Arg118Gly) 587783100 MedGen:CN169374 15 25616909 25616909 T C 166478 single nucleotide variant NM_130838.1(UBE3A):c.382C>T (p.Arg128Cys) 587783101 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371732 25371732 G A 166478 single nucleotide variant NM_130838.1(UBE3A):c.382C>T (p.Arg128Cys) 587783101 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616879 25616879 G A 166479 single nucleotide variant NM_130839.2(UBE3A):c.1305T>A (p.Asp435Glu) 587783102 MedGen:CN221809 15 25370869 25370869 A T 166479 single nucleotide variant NM_130839.2(UBE3A):c.1305T>A (p.Asp435Glu) 587783102 MedGen:CN221809 15 25616016 25616016 A T 166480 single nucleotide variant NM_130839.2(UBE3A):c.2355G>A (p.Arg785=) 587783103 MedGen:CN221809 15 25340228 25340228 C T 166480 single nucleotide variant NM_130839.2(UBE3A):c.2355G>A (p.Arg785=) 587783103 MedGen:CN221809 15 25585375 25585375 C T 166529 single nucleotide variant NM_130839.2(UBE3A):c.63-5T>G 587783144 MedGen:CN221809 15 25375768 25375768 A C 166529 single nucleotide variant NM_130839.2(UBE3A):c.63-5T>G 587783144 MedGen:CN221809 15 25620915 25620915 A C 166531 single nucleotide variant NM_130839.2(UBE3A):c.199A>G (p.Ile67Val) 587783146 MedGen:CN221809 15 25375627 25375627 T C 166531 single nucleotide variant NM_130839.2(UBE3A):c.199A>G (p.Ile67Val) 587783146 MedGen:CN221809 15 25620774 25620774 T C 166532 single nucleotide variant NM_130838.1(UBE3A):c.841A>G (p.Met281Val) 587783147 MedGen:CN169374 15 25371273 25371273 T C 166532 single nucleotide variant NM_130838.1(UBE3A):c.841A>G (p.Met281Val) 587783147 MedGen:CN169374 15 25616420 25616420 T C 166533 single nucleotide variant NM_130839.2(UBE3A):c.2420C>T (p.Thr807Met) 587783148 MedGen:CN221809 15 25340163 25340163 G A 166533 single nucleotide variant NM_130839.2(UBE3A):c.2420C>T (p.Thr807Met) 587783148 MedGen:CN221809 15 25585310 25585310 G A 169077 single nucleotide variant NM_130838.1(UBE3A):c.2549G>A (p.Gly850Asp) 587784528 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25339147 25339147 C T 169077 single nucleotide variant NM_130838.1(UBE3A):c.2549G>A (p.Gly850Asp) 587784528 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN169374 15 25584294 25584294 C T 169078 deletion NM_130838.1(UBE3A):c.2507_2510delAAGA (p.Lys836Argfs) 587784527 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339186 25339189 TCTT - 169078 deletion NM_130838.1(UBE3A):c.2507_2510delAAGA (p.Lys836Argfs) 587784527 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584333 25584336 TCTT - 169079 single nucleotide variant NM_130838.1(UBE3A):c.2485T>C (p.Tyr829His) 587784526 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339211 25339211 A G 169079 single nucleotide variant NM_130838.1(UBE3A):c.2485T>C (p.Tyr829His) 587784526 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584358 25584358 A G 169080 single nucleotide variant NM_130838.1(UBE3A):c.2220G>C (p.Arg740=) 587784525 MedGen:CN169374 15 25354528 25354528 C G 169080 single nucleotide variant NM_130838.1(UBE3A):c.2220G>C (p.Arg740=) 587784525 MedGen:CN169374 15 25599675 25599675 C G 169081 single nucleotide variant NM_130838.1(UBE3A):c.2071G>A (p.Val691Ile) 587784524 MedGen:CN169374 15 25354677 25354677 C T 169081 single nucleotide variant NM_130838.1(UBE3A):c.2071G>A (p.Val691Ile) 587784524 MedGen:CN169374 15 25599824 25599824 C T 169082 single nucleotide variant NM_130838.1(UBE3A):c.2026A>G (p.Asn676Asp) 587784523 MedGen:CN169374 15 25355930 25355930 T C 169082 single nucleotide variant NM_130838.1(UBE3A):c.2026A>G (p.Asn676Asp) 587784523 MedGen:CN169374 15 25601077 25601077 T C 169083 single nucleotide variant NM_130838.1(UBE3A):c.1821T>C (p.Asp607=) 587784522 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356769 25356769 A G 169083 single nucleotide variant NM_130838.1(UBE3A):c.1821T>C (p.Asp607=) 587784522 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601916 25601916 A G 169084 single nucleotide variant NM_130838.1(UBE3A):c.1805A>G (p.Asn602Ser) 587784521 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356785 25356785 T C 169084 single nucleotide variant NM_130838.1(UBE3A):c.1805A>G (p.Asn602Ser) 587784521 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601932 25601932 T C 169085 deletion NM_130838.1(UBE3A):c.1774_1777delATTG (p.Ile592Alafs) 587784520 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601960 25601963 CAAT - 169085 deletion NM_130838.1(UBE3A):c.1774_1777delATTG (p.Ile592Alafs) 587784520 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356813 25356816 CAAT - 169086 single nucleotide variant NM_130838.1(UBE3A):c.1763A>G (p.Gln588Arg) 587782919 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356827 25356827 T C 169086 single nucleotide variant NM_130838.1(UBE3A):c.1763A>G (p.Gln588Arg) 587782919 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601974 25601974 T C 169087 deletion NM_130838.1(UBE3A):c.1726_1730delTTTTG (p.Phe576Valfs) 587784519 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25602007 25602011 CAAAA - 169087 deletion NM_130838.1(UBE3A):c.1726_1730delTTTTG (p.Phe576Valfs) 587784519 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356860 25356864 CAAAA - 169088 single nucleotide variant NM_130838.1(UBE3A):c.1693+12A>G 368720379 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360371 25360371 T C 169088 single nucleotide variant NM_130838.1(UBE3A):c.1693+12A>G 368720379 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605518 25605518 T C 169089 single nucleotide variant NM_130838.1(UBE3A):c.1688A>G (p.Asp563Gly) 587784518 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360388 25360388 T C 169089 single nucleotide variant NM_130838.1(UBE3A):c.1688A>G (p.Asp563Gly) 587784518 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605535 25605535 T C 169090 single nucleotide variant NM_130838.1(UBE3A):c.1682A>G (p.Asn561Ser) 587784517 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360394 25360394 T C 169090 single nucleotide variant NM_130838.1(UBE3A):c.1682A>G (p.Asn561Ser) 587784517 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605541 25605541 T C 169091 single nucleotide variant NM_130838.1(UBE3A):c.1634G>A (p.Gly545Glu) 587784516 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360442 25360442 C T 169091 single nucleotide variant NM_130838.1(UBE3A):c.1634G>A (p.Gly545Glu) 587784516 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605589 25605589 C T 169092 single nucleotide variant NM_130838.1(UBE3A):c.1599T>A (p.Tyr533Ter) 587784515 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360477 25360477 A T 169092 single nucleotide variant NM_130838.1(UBE3A):c.1599T>A (p.Tyr533Ter) 587784515 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605624 25605624 A T 169093 single nucleotide variant NM_130838.1(UBE3A):c.1567G>T (p.Glu523Ter) 587784514 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25360509 25360509 C A 169093 single nucleotide variant NM_130838.1(UBE3A):c.1567G>T (p.Glu523Ter) 587784514 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25605656 25605656 C A 169094 deletion NM_130838.1(UBE3A):c.1461_1468delCTACAGCT (p.Tyr488Serfs) 587784513 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370646 25370653 AGCTGTAG - 169094 deletion NM_130838.1(UBE3A):c.1461_1468delCTACAGCT (p.Tyr488Serfs) 587784513 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615793 25615800 AGCTGTAG - 169095 deletion NM_130838.1(UBE3A):c.1347_1348delGA (p.Asn450Glnfs) 587784512 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370766 25370767 TC - 169095 deletion NM_130838.1(UBE3A):c.1347_1348delGA (p.Asn450Glnfs) 587784512 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615913 25615914 TC - 169096 single nucleotide variant NM_130838.1(UBE3A):c.1132A>C (p.Ile378Leu) 200380619 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370982 25370982 T G 169096 single nucleotide variant NM_130838.1(UBE3A):c.1132A>C (p.Ile378Leu) 200380619 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616129 25616129 T G 169097 single nucleotide variant NM_130838.1(UBE3A):c.1116A>T (p.Glu372Asp) 587784510 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370998 25370998 T A 169097 single nucleotide variant NM_130838.1(UBE3A):c.1116A>T (p.Glu372Asp) 587784510 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616145 25616145 T A 169098 deletion NM_130838.1(UBE3A):c.1110_1113delTGAA (p.Asn370Lysfs) 587784509 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371001 25371004 TTCA - 169098 deletion NM_130838.1(UBE3A):c.1110_1113delTGAA (p.Asn370Lysfs) 587784509 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616148 25616151 TTCA - 169099 single nucleotide variant NM_130838.1(UBE3A):c.1090G>T (p.Glu364Ter) 587784508 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371024 25371024 C A 169099 single nucleotide variant NM_130838.1(UBE3A):c.1090G>T (p.Glu364Ter) 587784508 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616171 25616171 C A 169100 single nucleotide variant NM_130838.1(UBE3A):c.964C>T (p.Gln322Ter) 587784534 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371150 25371150 G A 169100 single nucleotide variant NM_130838.1(UBE3A):c.964C>T (p.Gln322Ter) 587784534 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616297 25616297 G A 169101 single nucleotide variant NM_130838.1(UBE3A):c.829G>T (p.Glu277Ter) 587784533 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371285 25371285 C A 169101 single nucleotide variant NM_130838.1(UBE3A):c.829G>T (p.Glu277Ter) 587784533 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616432 25616432 C A 169102 deletion NM_130838.1(UBE3A):c.505_511delGAAAAGG (p.Glu169Lysfs) 587784532 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616750 25616756 CCTTTTC - 169102 deletion NM_130838.1(UBE3A):c.505_511delGAAAAGG (p.Glu169Lysfs) 587784532 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371603 25371609 CCTTTTC - 169103 deletion NM_130838.1(UBE3A):c.388_399delATTGGAAGAGTT (p.Ile130_Val133del) 587784531 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616862 25616873 AACTCTTCCAAT - 169103 deletion NM_130838.1(UBE3A):c.388_399delATTGGAAGAGTT (p.Ile130_Val133del) 587784531 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371715 25371726 AACTCTTCCAAT - 169104 deletion NM_130838.1(UBE3A):c.380delT (p.Ile127Thrfs) 587784530 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25371734 25371734 A - 169104 deletion NM_130838.1(UBE3A):c.380delT (p.Ile127Thrfs) 587784530 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616881 25616881 A - 169105 deletion NM_130838.1(UBE3A):c.317_321delCAGAA (p.Thr106Argfs) 587784529 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809 15 25616940 25616944 TTCTG - 169105 deletion NM_130838.1(UBE3A):c.317_321delCAGAA (p.Thr106Argfs) 587784529 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809 15 25371793 25371797 TTCTG - 169106 single nucleotide variant NM_130838.1(UBE3A):c.268A>G (p.Met90Val) 369853017 MedGen:CN169374 15 25375498 25375498 T C 169106 single nucleotide variant NM_130838.1(UBE3A):c.268A>G (p.Met90Val) 369853017 MedGen:CN169374 15 25620645 25620645 T C 169107 single nucleotide variant NM_130838.1(UBE3A):c.116G>A (p.Arg39His) 587784511 MedGen:CN169374 15 25375650 25375650 C T 169107 single nucleotide variant NM_130838.1(UBE3A):c.116G>A (p.Arg39His) 587784511 MedGen:CN169374 15 25620797 25620797 C T 178139 insertion NM_130838.1(UBE3A):c.486_487insCT (p.Glu163Leufs) 786200996 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809 15 25616774 25616775 - AG 178139 insertion NM_130838.1(UBE3A):c.486_487insCT (p.Glu163Leufs) 786200996 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635;MedGen:CN221809 15 25371627 25371628 - AG 192558 deletion NM_130838.1(UBE3A):c.3-14_3-7delAATGTTTG 794727306 MedGen:CN169374 15 25620917 25620924 CAAACATT - 192558 deletion NM_130838.1(UBE3A):c.3-14_3-7delAATGTTTG 794727306 MedGen:CN169374 15 25375770 25375777 CAAACATT - 193732 single nucleotide variant NM_130838.1(UBE3A):c.972T>C (p.Ile324=) 755119609 MedGen:CN169374 15 25616289 25616289 A G 193732 single nucleotide variant NM_130838.1(UBE3A):c.972T>C (p.Ile324=) 755119609 MedGen:CN169374 15 25371142 25371142 A G 193733 single nucleotide variant NM_130838.1(UBE3A):c.1278T>C (p.Phe426=) 371154816 MedGen:CN169374 15 25370836 25370836 A G 193733 single nucleotide variant NM_130838.1(UBE3A):c.1278T>C (p.Phe426=) 371154816 MedGen:CN169374 15 25615983 25615983 A G 195029 deletion NM_130838.1(UBE3A):c.1762_1763delCA (p.Gln588Valfs) 794727738 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356827 25356828 TG - 195029 deletion NM_130838.1(UBE3A):c.1762_1763delCA (p.Gln588Valfs) 794727738 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601974 25601975 TG - 196435 deletion NM_130838.1(UBE3A):c.2503_2508delCTTAAA (p.Leu835_Lys836del) 863225070 MedGen:CN221809;MedGen:CN169374 15 25584335 25584340 TTTAAG - 196435 deletion NM_130838.1(UBE3A):c.2503_2508delCTTAAA (p.Leu835_Lys836del) 863225070 MedGen:CN221809;MedGen:CN169374 15 25339188 25339193 TTTAAG - 196436 single nucleotide variant NM_130838.1(UBE3A):c.2444C>G (p.Pro815Arg) 863225069 MedGen:CN169374 15 25339252 25339252 G C 196436 single nucleotide variant NM_130838.1(UBE3A):c.2444C>G (p.Pro815Arg) 863225069 MedGen:CN169374 15 25584399 25584399 G C 196437 single nucleotide variant NM_130838.1(UBE3A):c.1697T>G (p.Met566Arg) 587781244 MedGen:CN169374 15 25602040 25602040 A C 196437 single nucleotide variant NM_130838.1(UBE3A):c.1697T>G (p.Met566Arg) 587781244 MedGen:CN169374 15 25356893 25356893 A C 196438 deletion NM_130838.1(UBE3A):c.1412_1416delATTAT (p.Tyr471Terfs) 863225068 MedGen:CN221809 15 25370698 25370702 ATAAT - 196438 deletion NM_130838.1(UBE3A):c.1412_1416delATTAT (p.Tyr471Terfs) 863225068 MedGen:CN221809 15 25615845 25615849 ATAAT - 196439 single nucleotide variant NM_130838.1(UBE3A):c.947T>C (p.Met316Thr) 863225071 MedGen:CN169374 15 25371167 25371167 A G 196439 single nucleotide variant NM_130838.1(UBE3A):c.947T>C (p.Met316Thr) 863225071 MedGen:CN169374 15 25616314 25616314 A G 205287 deletion NM_130838.1(UBE3A):c.1254_1342del89 (p.Lys418Asnfs) -1 MeSH:D030342,MedGen:C0950123 15 25615919 25616007 na na 205287 deletion NM_130838.1(UBE3A):c.1254_1342del89 (p.Lys418Asnfs) -1 MeSH:D030342,MedGen:C0950123 15 25370772 25370860 na na 208160 duplication NM_130838.1(UBE3A):c.2547dupT (p.Gly850Trpfs) 797046088 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339149 25339149 A AA 208160 duplication NM_130838.1(UBE3A):c.2547dupT (p.Gly850Trpfs) 797046088 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584296 25584296 A AA 208161 duplication NM_130838.1(UBE3A):c.2503_2507dupCTTAA (p.Lys836Asnfs) 587781240 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339189 25339193 TTAAG TTAAGTTAAG 208161 duplication NM_130838.1(UBE3A):c.2503_2507dupCTTAA (p.Lys836Asnfs) 587781240 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584336 25584340 TTAAG TTAAGTTAAG 208162 duplication NM_130838.1(UBE3A):c.2463_2506dup44 (p.Lys836Ilefs) 587781230 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339190 25339233 na na 208162 duplication NM_130838.1(UBE3A):c.2463_2506dup44 (p.Lys836Ilefs) 587781230 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584337 25584380 na na 208163 duplication NM_130838.1(UBE3A):c.2502dupA (p.Leu835Thrfs) 797046087 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584341 25584341 T TT 208163 duplication NM_130838.1(UBE3A):c.2502dupA (p.Leu835Thrfs) 797046087 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339194 25339194 T TT 208164 duplication NM_130838.1(UBE3A):c.2337_2340dupAAGA (p.Leu781Lysfs) 797046086 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25340183 25340186 TCTT TCTTTCTT 208164 duplication NM_130838.1(UBE3A):c.2337_2340dupAAGA (p.Leu781Lysfs) 797046086 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25585330 25585333 TCTT TCTTTCTT 208165 duplication NM_130838.1(UBE3A):c.2178dupA (p.Phe727Ilefs) 797046085 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25354570 25354570 T TT 208165 duplication NM_130838.1(UBE3A):c.2178dupA (p.Phe727Ilefs) 797046085 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25599717 25599717 T TT 208166 single nucleotide variant NM_130838.1(UBE3A):c.1125A>T (p.Glu375Asp) 114056442 MedGen:CN169374 15 25370989 25370989 T A 208166 single nucleotide variant NM_130838.1(UBE3A):c.1125A>T (p.Glu375Asp) 114056442 MedGen:CN169374 15 25616136 25616136 T A 208167 indel NM_130838.1(UBE3A):c.840_852delAATGGCTTTGCCAinsC (p.Glu280_Pro284delinsAsp) 797046089 MedGen:CN169374 15 25616409 25616421 TGGCAAAGCCATT G 208167 indel NM_130838.1(UBE3A):c.840_852delAATGGCTTTGCCAinsC (p.Glu280_Pro284delinsAsp) 797046089 MedGen:CN169374 15 25371262 25371274 TGGCAAAGCCATT G 208168 single nucleotide variant NM_130838.1(UBE3A):c.599A>C (p.Asn200Thr) 528422241 MedGen:CN169374 15 25371515 25371515 T G 208168 single nucleotide variant NM_130838.1(UBE3A):c.599A>C (p.Asn200Thr) 528422241 MedGen:CN169374 15 25616662 25616662 T G 208169 insertion NM_130838.1(UBE3A):c.2+1_2+2insAA 797046084 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25650606 25650607 - TT 208169 insertion NM_130838.1(UBE3A):c.2+1_2+2insAA 797046084 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25405459 25405460 - TT 213632 deletion NM_130838.1(UBE3A):c.2475_2478delACTT (p.Leu825Phefs) 863224940 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584365 25584368 AAGT - 213632 deletion NM_130838.1(UBE3A):c.2475_2478delACTT (p.Leu825Phefs) 863224940 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339218 25339221 AAGT - 215013 deletion NM_130838.1(UBE3A):c.1811_1812delGT (p.Cys604Tyrfs) 864309508 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25356778 25356779 AC - 215013 deletion NM_130838.1(UBE3A):c.1811_1812delGT (p.Cys604Tyrfs) 864309508 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25601925 25601926 AC - 215014 single nucleotide variant NM_000462.3(UBE3A):c.1432A>G (p.Met478Val) 864309507 Gene:100188832,MedGen:C0004352,OMIM:209850,SNOMED CT:C0004352 15 25370751 25370751 T C 215014 single nucleotide variant NM_000462.3(UBE3A):c.1432A>G (p.Met478Val) 864309507 Gene:100188832,MedGen:C0004352,OMIM:209850,SNOMED CT:C0004352 15 25615898 25615898 T C 215015 single nucleotide variant NM_000462.3(UBE3A):c.128G>T (p.Gly43Val) 864309506 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25375707 25375707 C A 215015 single nucleotide variant NM_000462.3(UBE3A):c.128G>T (p.Gly43Val) 864309506 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25620854 25620854 C A 242023 deletion NM_130838.1(UBE3A):c.-44-?_*1888+?del -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 na -1 -1 na na 242028 single nucleotide variant NM_130838.1(UBE3A):c.1461C>T (p.Leu487=) 878855201 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370653 25370653 G A 242028 single nucleotide variant NM_130838.1(UBE3A):c.1461C>T (p.Leu487=) 878855201 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25615800 25615800 G A 247845 copy number gain NC_000015.9:g.(?_25583931)_(25685400_?)dup -1 - 15 25583931 25685400 na na 248243 copy number loss NC_000015.9:g.(?_25655533)_(25691566_?)del -1 - 15 25655533 25691566 na na 260062 deletion NM_130838.1(UBE3A):c.2373_2374delAG (p.Arg791Serfs) 886039476 MedGen:CN221809 15 25585296 25585297 CT - 260062 deletion NM_130838.1(UBE3A):c.2373_2374delAG (p.Arg791Serfs) 886039476 MedGen:CN221809 15 25340149 25340150 CT - 260063 deletion NM_130838.1(UBE3A):c.1893_1894delTC (p.His632Profs) 886039516 MedGen:CN221809 15 25601843 25601844 GA - 260063 deletion NM_130838.1(UBE3A):c.1893_1894delTC (p.His632Profs) 886039516 MedGen:CN221809 15 25356696 25356697 GA - 260064 deletion NM_130838.1(UBE3A):c.767delG (p.Arg256Glnfs) 886039448 MedGen:CN221809 15 25616494 25616494 C - 260064 deletion NM_130838.1(UBE3A):c.767delG (p.Arg256Glnfs) 886039448 MedGen:CN221809 15 25371347 25371347 C - 264566 deletion NM_130838.1(UBE3A):c.1181_1187delGAAGAAA (p.Arg394Thrfs) 886041283 MedGen:CN221809 15 25616074 25616080 TTTCTTC - 264566 deletion NM_130838.1(UBE3A):c.1181_1187delGAAGAAA (p.Arg394Thrfs) 886041283 MedGen:CN221809 15 25370927 25370933 TTTCTTC - 264607 deletion NM_130838.1(UBE3A):c.2511_2514delGAGA (p.Glu837Aspfs) 886041252 MedGen:CN221809 15 25584329 25584332 TCTC - 264607 deletion NM_130838.1(UBE3A):c.2511_2514delGAGA (p.Glu837Aspfs) 886041252 MedGen:CN221809 15 25339182 25339185 TCTC - 264609 duplication NM_130838.1(UBE3A):c.2409dupT (p.Ile804Tyrfs) 886041289 MedGen:CN221809 15 25585261 25585261 A AA 264609 duplication NM_130838.1(UBE3A):c.2409dupT (p.Ile804Tyrfs) 886041289 MedGen:CN221809 15 25340114 25340114 A AA 264615 single nucleotide variant NM_130838.1(UBE3A):c.660C>A (p.Tyr220Ter) 755078197 MedGen:CN221809 15 25616601 25616601 G T 264615 single nucleotide variant NM_130838.1(UBE3A):c.660C>A (p.Tyr220Ter) 755078197 MedGen:CN221809 15 25371454 25371454 G T 264617 duplication NM_130838.1(UBE3A):c.93_94dupTG (p.Ala32Valfs) 886041451 MedGen:CN221809 15 25620819 25620819 CA CACA 264617 duplication NM_130838.1(UBE3A):c.93_94dupTG (p.Ala32Valfs) 886041451 MedGen:CN221809 15 25375672 25375673 CA CACA 264716 duplication NM_130838.1(UBE3A):c.1184_1193dupGAAACAAGAA (p.Gly399Lysfs) 886041603 MedGen:CN221809 15 25616068 25616068 TTCTTGTTTC TTCTTGTTTCTTCTTGTTTC 264716 duplication NM_130838.1(UBE3A):c.1184_1193dupGAAACAAGAA (p.Gly399Lysfs) 886041603 MedGen:CN221809 15 25370921 25370930 TTCTTGTTTC TTCTTGTTTCTTCTTGTTTC 265634 single nucleotide variant NM_130838.1(UBE3A):c.1668G>A (p.Val556=) 749731066 MedGen:CN169374 15 25605555 25605555 C T 265634 single nucleotide variant NM_130838.1(UBE3A):c.1668G>A (p.Val556=) 749731066 MedGen:CN169374 15 25360408 25360408 C T 271511 single nucleotide variant NM_130838.1(UBE3A):c.1177G>T (p.Glu393Ter) 886043612 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25616084 25616084 C A 271511 single nucleotide variant NM_130838.1(UBE3A):c.1177G>T (p.Glu393Ter) 886043612 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25370937 25370937 C A 360172 single nucleotide variant NM_130838.1(UBE3A):c.1420A>G (p.Asn474Asp) 1057517876 MedGen:CN221809 15 25370694 25370694 T C 360172 single nucleotide variant NM_130838.1(UBE3A):c.1420A>G (p.Asn474Asp) 1057517876 MedGen:CN221809 15 25615841 25615841 T C 360214 single nucleotide variant NM_130838.1(UBE3A):c.397G>A (p.Val133Ile) 199636913 MedGen:CN169374 15 25371717 25371717 C T 360214 single nucleotide variant NM_130838.1(UBE3A):c.397G>A (p.Val133Ile) 199636913 MedGen:CN169374 15 25616864 25616864 C T 360965 duplication NM_000462.3(UBE3A):c.2513_2525dupCTACATCTCATAC (p.Cys843Tyrfs) 1057518777 MedGen:C0424605;Human Phenotype Ontology:HP:0001249,MedGen:C3714756 15 25339240 25339252 GTATGAGATGTAG GTATGAGATGTAGGTATGAGATGTAG 360965 duplication NM_000462.3(UBE3A):c.2513_2525dupCTACATCTCATAC (p.Cys843Tyrfs) 1057518777 MedGen:C0424605;Human Phenotype Ontology:HP:0001249,MedGen:C3714756 15 25584387 25584399 GTATGAGATGTAG GTATGAGATGTAGGTATGAGATGTAG 360966 single nucleotide variant NM_000462.3(UBE3A):c.2281G>A (p.Gly761Arg) 1057518770 Human Phenotype Ontology:HP:0001273,MedGen:C1842581;Human Phenotype Ontology:HP:0002353,MedGen:C0151611;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0002465,MedGen:C1848207;Human Phenotype Ontology:HP:0001250,MedGen:C1959629 15 25599683 25599683 C T 360966 single nucleotide variant NM_000462.3(UBE3A):c.2281G>A (p.Gly761Arg) 1057518770 Human Phenotype Ontology:HP:0001273,MedGen:C1842581;Human Phenotype Ontology:HP:0002353,MedGen:C0151611;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0002465,MedGen:C1848207;Human Phenotype Ontology:HP:0001250,MedGen:C1959629 15 25354536 25354536 C T 361963 deletion NM_130838.1(UBE3A):c.2493_2509del17 (p.Ser831Argfs) -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25339187 25339203 na na 361963 deletion NM_130838.1(UBE3A):c.2493_2509del17 (p.Ser831Argfs) -1 MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:C0162635 15 25584334 25584350 na na

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 15 25602950 rs8025093 A C rs8025093 4.00E-06 Obesity-related traits HPOID:0001513 DOID:9970 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000114062.18 UBE3A 601623