ClinVar Miner

List of variants studied for Angelman syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 686
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079 0.03018
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=) rs34670662 0.02620
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190 0.02311
NM_130839.5(UBE3A):c.1185A>G (p.Glu395=) rs114056442 0.00599
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_130839.5(UBE3A):c.2499-34del rs564915971 0.00204
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751 0.00121
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_130839.5(UBE3A):c.2281-42T>C rs543571933 0.00064
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504 0.00054
NM_130839.5(UBE3A):c.927G>A (p.Ala309=) rs576963061 0.00013
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816 0.00009
NM_130839.5(UBE3A):c.2281-20A>G rs376920758 0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_130839.5(UBE3A):c.986A>G (p.Asn329Ser) rs556829175 0.00009
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423 0.00007
NM_130839.5(UBE3A):c.2592G>A (p.Thr864=) rs377110924 0.00007
NM_130839.5(UBE3A):c.1228T>C (p.Leu410=) rs143310195 0.00006
NM_130839.5(UBE3A):c.1753+32G>A rs373746667 0.00006
NM_130839.5(UBE3A):c.2322C>T (p.Asp774=) rs759095902 0.00006
NM_130839.5(UBE3A):c.2499-37dup rs587782913 0.00006
NM_130839.5(UBE3A):c.342C>T (p.Gly114=) rs142726511 0.00006
NM_130839.5(UBE3A):c.1052A>G (p.Asn351Ser) rs747932207 0.00005
NM_130839.5(UBE3A):c.1153G>A (p.Val385Met) rs763388142 0.00005
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400 0.00005
NM_130839.5(UBE3A):c.647A>C (p.Gln216Pro) rs144950303 0.00005
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_130839.5(UBE3A):c.1006A>C (p.Met336Leu) rs372526793 0.00004
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760 0.00004
NM_130839.5(UBE3A):c.1169A>G (p.Asn390Ser) rs147446244 0.00004
NM_130839.5(UBE3A):c.1482T>C (p.Asn494=) rs776564692 0.00004
NM_130839.5(UBE3A):c.1596T>C (p.Asp532=) rs748426530 0.00004
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) rs749731066 0.00004
NM_130839.5(UBE3A):c.1753+8C>T rs1356350246 0.00004
NM_130839.5(UBE3A):c.1824G>A (p.Gln608=) rs760397761 0.00004
NM_130839.5(UBE3A):c.2281-9A>G rs978341458 0.00004
NM_130839.5(UBE3A):c.*4A>G rs755581358 0.00003
NM_130839.5(UBE3A):c.1032T>C (p.Ile344=) rs755119609 0.00003
NM_130839.5(UBE3A):c.1038T>C (p.Tyr346=) rs1057520481 0.00003
NM_130839.5(UBE3A):c.1289G>T (p.Gly430Val) rs1260300451 0.00003
NM_130839.5(UBE3A):c.1959+11T>A rs771390878 0.00003
NM_130839.5(UBE3A):c.2247A>G (p.Pro749=) rs753988917 0.00003
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile) rs587782910 0.00003
NM_130839.5(UBE3A):c.2355G>A (p.Arg785=) rs587783103 0.00003
NM_130839.5(UBE3A):c.291G>A (p.Ser97=) rs1411368065 0.00003
NM_130839.5(UBE3A):c.295G>T (p.Gly99Cys) rs774533700 0.00003
NM_130839.5(UBE3A):c.305A>G (p.Asn102Ser) rs201577750 0.00003
NM_130839.5(UBE3A):c.361+30G>A rs367646993 0.00003
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035 0.00003
NM_130839.5(UBE3A):c.589G>T (p.Ala197Ser) rs752711811 0.00003
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055 0.00003
NM_130839.5(UBE3A):c.87A>G (p.Leu29=) rs771985048 0.00003
NM_130839.5(UBE3A):c.1067G>A (p.Arg356Gln) rs780050034 0.00002
NM_130839.5(UBE3A):c.1192A>C (p.Ile398Leu) rs200380619 0.00002
NM_130839.5(UBE3A):c.1273C>T (p.Leu425=) rs778060771 0.00002
NM_130839.5(UBE3A):c.141G>A (p.Thr47=) rs760283316 0.00002
NM_130839.5(UBE3A):c.1854G>C (p.Leu618=) rs370142725 0.00002
NM_130839.5(UBE3A):c.2114A>G (p.Glu705Gly) rs764195093 0.00002
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser) rs916720140 0.00002
NM_130839.5(UBE3A):c.222G>A (p.Lys74=) rs759225128 0.00002
NM_130839.5(UBE3A):c.2499-10C>T rs776735747 0.00002
NM_130839.5(UBE3A):c.299C>T (p.Ala100Val) rs587783099 0.00002
NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly) rs587783100 0.00002
NM_130839.5(UBE3A):c.511A>T (p.Thr171Ser) rs140245963 0.00002
NM_130839.5(UBE3A):c.733T>G (p.Ser245Ala) rs760844102 0.00002
NM_130839.5(UBE3A):c.1009A>T (p.Met337Leu) rs368318081 0.00001
NM_130839.5(UBE3A):c.1134A>G (p.Ala378=) rs1055822466 0.00001
NM_130839.5(UBE3A):c.1138G>A (p.Val380Ile) rs751838524 0.00001
NM_130839.5(UBE3A):c.1165C>A (p.His389Asn) rs928551764 0.00001
NM_130839.5(UBE3A):c.1176A>T (p.Glu392Asp) rs587784510 0.00001
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=) rs1057520392 0.00001
NM_130839.5(UBE3A):c.1305T>C (p.Asp435=) rs587783102 0.00001
NM_130839.5(UBE3A):c.1310G>A (p.Arg437Gln) rs765813410 0.00001
NM_130839.5(UBE3A):c.1568A>G (p.Lys523Arg) rs1384754256 0.00001
NM_130839.5(UBE3A):c.1607G>A (p.Arg536Gln) rs779375881 0.00001
NM_130839.5(UBE3A):c.1609-10C>T rs1490784858 0.00001
NM_130839.5(UBE3A):c.1753+12A>G rs368720379 0.00001
NM_130839.5(UBE3A):c.1754-3T>C rs1398256620 0.00001
NM_130839.5(UBE3A):c.1754-4A>G rs780429591 0.00001
NM_130839.5(UBE3A):c.175C>T (p.Arg59Cys) rs587783098 0.00001
NM_130839.5(UBE3A):c.176G>A (p.Arg59His) rs587784511 0.00001
NM_130839.5(UBE3A):c.1809T>C (p.Phe603=) rs766144091 0.00001
NM_130839.5(UBE3A):c.1876C>T (p.Leu626=) rs376089007 0.00001
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=) rs587784522 0.00001
NM_130839.5(UBE3A):c.189T>C (p.Asn63=) rs1378900021 0.00001
NM_130839.5(UBE3A):c.1936C>A (p.Arg646Ser) rs746286431 0.00001
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg) rs747626553 0.00001
NM_130839.5(UBE3A):c.1959+15A>G rs1444735197 0.00001
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838 0.00001
NM_130839.5(UBE3A):c.20+465G>A rs765727905 0.00001
NM_130839.5(UBE3A):c.2104A>G (p.Ile702Val) rs751477028 0.00001
NM_130839.5(UBE3A):c.210C>T (p.Leu70=) rs752310016 0.00001
NM_130839.5(UBE3A):c.2124+13T>G rs1477029660 0.00001
NM_130839.5(UBE3A):c.2124+8A>G rs1057522487 0.00001
NM_130839.5(UBE3A):c.2131G>A (p.Val711Ile) rs587784524 0.00001
NM_130839.5(UBE3A):c.2163A>G (p.Lys721=) rs992268686 0.00001
NM_130839.5(UBE3A):c.2216A>G (p.Asn739Ser) rs778808533 0.00001
NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr) rs1312971608 0.00001
NM_130839.5(UBE3A):c.2280+17C>T rs767903684 0.00001
NM_130839.5(UBE3A):c.2354+13del rs1566887115 0.00001
NM_130839.5(UBE3A):c.2354+16C>T rs1464903824 0.00001
NM_130839.5(UBE3A):c.2355-6_2355-5insTAAT rs1555380917 0.00001
NM_130839.5(UBE3A):c.2370C>T (p.Ile790=) rs767254317 0.00001
NM_130839.5(UBE3A):c.2402T>A (p.Leu801His) rs1057520393 0.00001
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991 0.00001
NM_130839.5(UBE3A):c.2420C>T (p.Thr807Met) rs587783148 0.00001
NM_130839.5(UBE3A):c.2499-6A>G rs925559099 0.00001
NM_130839.5(UBE3A):c.290C>T (p.Ser97Leu) rs772110423 0.00001
NM_130839.5(UBE3A):c.330G>C (p.Met110Ile) rs781537729 0.00001
NM_130839.5(UBE3A):c.356T>G (p.Phe119Cys) rs753429030 0.00001
NM_130839.5(UBE3A):c.361+16T>A rs1285482314 0.00001
NM_130839.5(UBE3A):c.361+29T>C rs587782914 0.00001
NM_130839.5(UBE3A):c.361+6A>G rs200510893 0.00001
NM_130839.5(UBE3A):c.442C>T (p.Arg148Cys) rs587783101 0.00001
NM_130839.5(UBE3A):c.457G>A (p.Val153Ile) rs199636913 0.00001
NM_130839.5(UBE3A):c.507A>G (p.Gln169=) rs1555401033 0.00001
NM_130839.5(UBE3A):c.512C>G (p.Thr171Ser) rs1383474985 0.00001
NM_130839.5(UBE3A):c.650G>C (p.Gly217Ala) rs777672019 0.00001
NM_130839.5(UBE3A):c.659A>G (p.Asn220Ser) rs528422241 0.00001
NM_130839.5(UBE3A):c.660T>C (p.Asn220=) rs201667751 0.00001
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser) rs587782922 0.00001
NM_130839.5(UBE3A):c.705C>G (p.Ala235=) rs149824737 0.00001
NM_130839.5(UBE3A):c.744A>G (p.Lys248=) rs367996463 0.00001
NM_130839.5(UBE3A):c.768A>G (p.Ala256=) rs762172890 0.00001
NM_130839.5(UBE3A):c.790G>A (p.Val264Met) rs745363984 0.00001
NM_130839.5(UBE3A):c.819A>G (p.Val273=) rs370294710 0.00001
NM_130839.5(UBE3A):c.81G>A (p.Lys27=) rs937023999 0.00001
NM_130839.5(UBE3A):c.826C>A (p.Arg276=) rs997044541 0.00001
NM_130839.5(UBE3A):c.828A>G (p.Arg276=) rs1467881884 0.00001
NM_130839.5(UBE3A):c.858C>T (p.Ile286=) rs61740972 0.00001
NM_130839.5(UBE3A):c.861A>G (p.Val287=) rs1341061203 0.00001
NM_130839.5(UBE3A):c.939A>G (p.Leu313=) rs762154663 0.00001
NM_130839.5(UBE3A):c.961C>T (p.Leu321=) rs1385870007 0.00001
GRCh37/hg19 15q11.2(chr15:25582396-25684175)x1
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014)
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838)
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838)
GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578)
GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399)
GRCh38/hg38 15q11.2(chr15:25354042-25357067)x1
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1
NC_000015.10:g.(?_24566038)_(25781223_?)del
NC_000015.10:g.(?_24566038)_(25781223_?)dup
NC_000015.10:g.(?_25339117)_(25360547_?)dup
NC_000015.10:g.(?_25339117)_(25409127_?)del
NC_000015.10:g.(?_25339137)_(25405462_?)dup
NC_000015.10:g.(?_25354333)_(25360547_?)del
NC_000015.10:g.(?_25360363)_(25360547_?)del
NC_000015.10:g.(?_25375445)_(25375783_?)del
NC_000015.10:g.23370759_30529376del
NC_000015.10:g.25375764del
NC_000015.9:g.(?_23730704)_(28530182_?)del
NC_000015.9:g.(?_25582396)_(25650653_?)dup
NC_000015.9:g.(?_25584264)_(25620930_?)dup
NC_000015.9:g.(?_25584264)_(25654274_?)dup
NC_000015.9:g.(?_25584273)_(25650609_?)del
NC_000015.9:g.(?_25584273)_(25650609_?)dup
NC_000015.9:g.(?_25584284)_(25585395_?)del
NC_000015.9:g.(?_25584284)_(25585395_?)dup
NC_000015.9:g.(?_25584284)_(25620930_?)dup
NC_000015.9:g.(?_25615693)_(25650609_?)del
NM_000462.3(UBE3A):c.2365delG rs2074511604
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) rs1557135251
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del) rs267608332
NM_001110792.2(MECP2):c.203_204del (p.Pro68fs) rs267608434
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs) rs267608546
NM_033223.5(GABRG3):c.1125C>T (p.Asn375=) rs1891450501
NM_130838.1(UBE3A):c.-44_*1888del
NM_130839.5(UBE3A):c.*3CAAAA[2] (p.Ter873=) rs587782926
NM_130839.5(UBE3A):c.*46del rs368425414
NM_130839.5(UBE3A):c.*80_*83dup rs2152505917
NM_130839.5(UBE3A):c.1000C>G (p.Arg334Gly)
NM_130839.5(UBE3A):c.1001G>A (p.Arg334Gln)
NM_130839.5(UBE3A):c.1002G>A (p.Arg334=) rs1595808837
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr) rs863225071
NM_130839.5(UBE3A):c.1012G>T (p.Glu338Ter) rs2080245178
NM_130839.5(UBE3A):c.1014G>A (p.Glu338=) rs779092156
NM_130839.5(UBE3A):c.1021C>T (p.Gln341Ter) rs587781191
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter) rs587784534
NM_130839.5(UBE3A):c.1026A>G (p.Gln342=)
NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs) rs587781192
NM_130839.5(UBE3A):c.1059T>C (p.Phe353=)
NM_130839.5(UBE3A):c.1060A>G (p.Asn354Asp) rs1595808009
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter) rs2080238010
NM_130839.5(UBE3A):c.1086T>C (p.Asp362=) rs375600705
NM_130839.5(UBE3A):c.108G>A (p.Gln36=) rs926999742
NM_130839.5(UBE3A):c.1107G>A (p.Ser369=)
NM_130839.5(UBE3A):c.1122G>A (p.Met374Ile)
NM_130839.5(UBE3A):c.1127dup (p.Tyr376Ter) rs587781193
NM_130839.5(UBE3A):c.1131T>A (p.Tyr377Ter) rs2080231132
NM_130839.5(UBE3A):c.1133C>G (p.Ala378Gly) rs1219606975
NM_130839.5(UBE3A):c.1136dup (p.Asn379fs) rs587781194
NM_130839.5(UBE3A):c.1139T>C (p.Val380Ala)
NM_130839.5(UBE3A):c.1147G>A (p.Gly383Arg) rs764318379
NM_130839.5(UBE3A):c.1150G>T (p.Glu384Ter) rs587784508
NM_130839.5(UBE3A):c.1153G>T (p.Val385Leu) rs763388142
NM_130839.5(UBE3A):c.1154T>G (p.Val385Gly)
NM_130839.5(UBE3A):c.1157A>G (p.Asp386Gly) rs779940531
NM_130839.5(UBE3A):c.1160C>T (p.Thr387Ile) rs2152821323
NM_130839.5(UBE3A):c.1161A>G (p.Thr387=)
NM_130839.5(UBE3A):c.1161A>T (p.Thr387=) rs753078220
NM_130839.5(UBE3A):c.1168A>G (p.Asn390Asp) rs765910610
NM_130839.5(UBE3A):c.1170_1173del (p.Asn390fs) rs587784509
NM_130839.5(UBE3A):c.1173AGA[1] (p.Glu392del)
NM_130839.5(UBE3A):c.1174G>T (p.Glu392Ter) rs587781195
NM_130839.5(UBE3A):c.1179T>A (p.Asp393Glu) rs143000400
NM_130839.5(UBE3A):c.1184A>G (p.Glu395Gly)
NM_130839.5(UBE3A):c.1192A>G (p.Ile398Val) rs200380619
NM_130839.5(UBE3A):c.1196C>G (p.Pro399Arg) rs267604140
NM_130839.5(UBE3A):c.1199A>T (p.Glu400Val)
NM_130839.5(UBE3A):c.119G>T (p.Gly40Val) rs864309506
NM_130839.5(UBE3A):c.1206C>T (p.Ser402=) rs774072376
NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter) rs1555400239
NM_130839.5(UBE3A):c.1221G>A (p.Gln407=) rs1460036615
NM_130839.5(UBE3A):c.1236A>C (p.Glu412Asp)
NM_130839.5(UBE3A):c.1244_1253dup (p.Gly419fs) rs886041603
NM_130839.5(UBE3A):c.1248C>T (p.Asn416=) rs2152820982
NM_130839.5(UBE3A):c.1255G>A (p.Gly419Ser)
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter) rs587781196
NM_130839.5(UBE3A):c.1285C>G (p.Leu429Val) rs1263950376
NM_130839.5(UBE3A):c.1301T>G (p.Leu434Arg)
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter)
NM_130839.5(UBE3A):c.131A>C (p.Glu44Ala) rs2081089937
NM_130839.5(UBE3A):c.1321dup (p.Ile441fs)
NM_130839.5(UBE3A):c.1322del (p.Ile441fs) rs1595804239
NM_130839.5(UBE3A):c.1325C>T (p.Pro442Leu) rs2152820660
NM_130839.5(UBE3A):c.1330G>T (p.Glu444Ter) rs587781197
NM_130839.5(UBE3A):c.1335G>A (p.Glu445=) rs1555400103
NM_130839.5(UBE3A):c.1344T>A (p.Asn448Lys)
NM_130839.5(UBE3A):c.1345G>T (p.Glu449Ter) rs587781198
NM_130839.5(UBE3A):c.1347A>G (p.Glu449=) rs2152820597
NM_130839.5(UBE3A):c.1359G>C (p.Glu453Asp)
NM_130839.5(UBE3A):c.1363C>G (p.Leu455Val)
NM_130839.5(UBE3A):c.1364T>C (p.Leu455Pro) rs587781242
NM_130839.5(UBE3A):c.1383T>C (p.Tyr461=)
NM_130839.5(UBE3A):c.1388T>C (p.Phe463Ser)
NM_130839.5(UBE3A):c.1394A>G (p.Lys465Arg)
NM_130839.5(UBE3A):c.1398A>G (p.Val466=)
NM_130839.5(UBE3A):c.1401A>G (p.Glu467=)
NM_130839.5(UBE3A):c.1402del (p.Thr468fs) rs2080191422
NM_130839.5(UBE3A):c.1405_1408del (p.Glu469fs) rs587784512
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs) rs587784512
NM_130839.5(UBE3A):c.1415dup (p.Ser473fs) rs587781199
NM_130839.5(UBE3A):c.1421_1422del (p.Phe474fs) rs587781200
NM_130839.5(UBE3A):c.1425_1439del (p.Met475_Phe479del) rs587780585
NM_130839.5(UBE3A):c.1428A>G (p.Thr476=) rs138049263
NM_130839.5(UBE3A):c.1428dup (p.Cys477fs)
NM_130839.5(UBE3A):c.1431T>A (p.Cys477Ter) rs587781201
NM_130839.5(UBE3A):c.1433C>T (p.Pro478Leu) rs587780584
NM_130839.5(UBE3A):c.1435T>A (p.Phe479Ile)
NM_130839.5(UBE3A):c.1439T>C (p.Ile480Thr)
NM_130839.5(UBE3A):c.1447del (p.Ala483fs) rs587781202
NM_130839.5(UBE3A):c.1461T>C (p.Asn487=)
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) rs863225068
NM_130839.5(UBE3A):c.1477G>A (p.Asp493Asn) rs2080181277
NM_130839.5(UBE3A):c.147G>T (p.Glu49Asp) rs2081087498
NM_130839.5(UBE3A):c.1490G>C (p.Arg497Pro) rs587781243
NM_130839.5(UBE3A):c.1494G>A (p.Met498Ile) rs587782916
NM_130839.5(UBE3A):c.1497C>T (p.Tyr499=)
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter) rs1555399937
NM_130839.5(UBE3A):c.1509A>G (p.Arg503=)
NM_130839.5(UBE3A):c.1521C>T (p.Leu507=) rs878855201
NM_130839.5(UBE3A):c.1521_1528del (p.Tyr508fs) rs587784513
NM_130839.5(UBE3A):c.1527C>T (p.Ser509=)
NM_130839.5(UBE3A):c.1539A>G (p.Gly513=) rs2152820058
NM_130839.5(UBE3A):c.153T>C (p.Cys51=)
NM_130839.5(UBE3A):c.1554A>C (p.Pro518=)
NM_130839.5(UBE3A):c.1565_1566del (p.Leu522fs) rs587781203
NM_130839.5(UBE3A):c.1566C>T (p.Leu522=) rs2152820006
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) rs1064793307
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His) rs1064795012
NM_130839.5(UBE3A):c.1583A>G (p.His528Arg)
NM_130839.5(UBE3A):c.1594G>T (p.Asp532Tyr) rs2152819923
NM_130839.5(UBE3A):c.1597dup (p.Ala533fs) rs587781204
NM_130839.5(UBE3A):c.1599A>G (p.Ala533=) rs1447040234
NM_130839.5(UBE3A):c.159C>G (p.Ser53=)
NM_130839.5(UBE3A):c.159C>T (p.Ser53=)
NM_130839.5(UBE3A):c.159del (p.Cys54fs) rs587780565
NM_130839.5(UBE3A):c.1600del (p.Val535fs) rs1566954070
NM_130839.5(UBE3A):c.1608+34T>C rs587782917
NM_130839.5(UBE3A):c.1608+3A>T
NM_130839.5(UBE3A):c.1609-11T>C rs1555393315
NM_130839.5(UBE3A):c.1609-20dup rs779671805
NM_130839.5(UBE3A):c.1609-8A>G rs2077891986
NM_130839.5(UBE3A):c.1614_1624del (p.Glu538fs)
NM_130839.5(UBE3A):c.161G>A (p.Cys54Tyr) rs1301123423
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1625T>G (p.Met542Arg) rs2152730267
NM_130839.5(UBE3A):c.1627G>T (p.Glu543Ter) rs587784514
NM_130839.5(UBE3A):c.1631dup (p.Asn544fs) rs587781205
NM_130839.5(UBE3A):c.1651C>A (p.Gln551Lys) rs113932065
NM_130839.5(UBE3A):c.1659T>A (p.Tyr553Ter) rs587784515
NM_130839.5(UBE3A):c.1668dup (p.Glu557Ter) rs587781206
NM_130839.5(UBE3A):c.1675G>C (p.Glu559Gln) rs2152730149
NM_130839.5(UBE3A):c.1678_1699delinsT (p.Gln560_Val567delinsPhe) rs1566912450
NM_130839.5(UBE3A):c.167C>A (p.Thr56Asn) rs1431543223
NM_130839.5(UBE3A):c.1682G>A (p.Gly561Glu) rs2077884610
NM_130839.5(UBE3A):c.1686TGA[1] (p.Asp563del) rs587782909
NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg) rs587781233
NM_130839.5(UBE3A):c.1694G>A (p.Gly565Glu) rs587784516
NM_130839.5(UBE3A):c.1696G>A (p.Gly566Ser) rs1555393242
NM_130839.5(UBE3A):c.1699_1702dup (p.Ser568fs) rs587781207
NM_130839.5(UBE3A):c.1704del (p.Glu570fs)
NM_130839.5(UBE3A):c.1710A>G (p.Glu570=)
NM_130839.5(UBE3A):c.1719G>A (p.Gln573=) rs1303052197
NM_130839.5(UBE3A):c.171T>A (p.Phe57Leu) rs2081083253
NM_130839.5(UBE3A):c.171del (p.Leu58fs) rs2152848314
NM_130839.5(UBE3A):c.172C>T (p.Leu58Phe) rs2081082912
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser) rs587784517
NM_130839.5(UBE3A):c.1748A>G (p.Asp583Gly) rs587784518
NM_130839.5(UBE3A):c.1753+11T>G
NM_130839.5(UBE3A):c.1753+15A>G
NM_130839.5(UBE3A):c.1754-2A>G rs587780579
NM_130839.5(UBE3A):c.1757T>A (p.Met586Lys) rs587781244
NM_130839.5(UBE3A):c.1764A>T (p.Thr588=) rs770078054
NM_130839.5(UBE3A):c.1770T>C (p.Asp590=) rs781556374
NM_130839.5(UBE3A):c.1782del (p.Lys594fs) rs1555391286
NM_130839.5(UBE3A):c.1786T>G (p.Phe596Val) rs2152701089
NM_130839.5(UBE3A):c.1786_1790del (p.Phe596fs) rs587784519
NM_130839.5(UBE3A):c.178A>G (p.Met60Val) rs2081081704
NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter) rs587781208
NM_130839.5(UBE3A):c.1791_1801delinsAAGATTCTTTTGAAA (p.Trp597_Ser601delinsTer)
NM_130839.5(UBE3A):c.1800A>G (p.Pro600=) rs754664908
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del) rs587781234
NM_130839.5(UBE3A):c.1810G>C (p.Glu604Gln) rs587781235
NM_130839.5(UBE3A):c.1820del (p.Gly607fs)
NM_130839.5(UBE3A):c.1822C>G (p.Gln608Glu) rs587782918
NM_130839.5(UBE3A):c.1823A>C (p.Gln608Pro) rs587782919
NM_130839.5(UBE3A):c.1823A>G (p.Gln608Arg) rs587782919
NM_130839.5(UBE3A):c.1830T>C (p.Thr610=) rs2152700872
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs) rs587784520
NM_130839.5(UBE3A):c.1838G>T (p.Gly613Val)
NM_130839.5(UBE3A):c.1850G>A (p.Gly617Asp)
NM_130839.5(UBE3A):c.1858A>G (p.Ile620Val) rs2152700776
NM_130839.5(UBE3A):c.1860T>A (p.Ile620=) rs2152700765
NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp) rs2077275624
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser) rs587784521
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs) rs864309508
NM_130839.5(UBE3A):c.1874_1884del (p.Ile625fs) rs587781209
NM_130839.5(UBE3A):c.1884A>C (p.Val628=) rs774618110
NM_130839.5(UBE3A):c.1891C>T (p.Pro631Ser) rs1310879709
NM_130839.5(UBE3A):c.1894A>G (p.Met632Val) rs2152700582
NM_130839.5(UBE3A):c.1914A>G (p.Leu638=)
NM_130839.5(UBE3A):c.1920dup (p.Lys641fs)
NM_130839.5(UBE3A):c.1933T>C (p.Phe645Leu) rs398124439
NM_130839.5(UBE3A):c.1937G>A (p.Arg646His) rs374601913
NM_130839.5(UBE3A):c.1937G>C (p.Arg646Pro) rs374601913
NM_130839.5(UBE3A):c.1937G>T (p.Arg646Leu) rs374601913
NM_130839.5(UBE3A):c.1959+14C>T
NM_130839.5(UBE3A):c.1959+8_1959+11del
NM_130839.5(UBE3A):c.1959+8del
NM_130839.5(UBE3A):c.1960-18A>G
NM_130839.5(UBE3A):c.1960G>C (p.Val654Leu) rs2152694181
NM_130839.5(UBE3A):c.1972_1973del (p.Ser658fs) rs587781210
NM_130839.5(UBE3A):c.1976T>G (p.Leu659Ter) rs1595591164
NM_130839.5(UBE3A):c.1983T>C (p.Asp661=)
NM_130839.5(UBE3A):c.1992G>A (p.Glu664=)
NM_130839.5(UBE3A):c.1997A>C (p.Glu666Ala)
NM_130839.5(UBE3A):c.199A>G (p.Ile67Val) rs587783146
NM_130839.5(UBE3A):c.2001G>A (p.Gly667=)
NM_130839.5(UBE3A):c.2003A>G (p.Asn668Ser) rs557434570
NM_130839.5(UBE3A):c.2013T>C (p.Asp671=)
NM_130839.5(UBE3A):c.2016C>T (p.Asp672=)
NM_130839.5(UBE3A):c.2016_2023del (p.Met673fs) rs587781211
NM_130839.5(UBE3A):c.2017dup (p.Met673fs) rs587781212
NM_130839.5(UBE3A):c.2027C>T (p.Thr676Ile) rs587781236
NM_130839.5(UBE3A):c.2030T>C (p.Phe677Ser) rs1566894864
NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter) rs587781213
NM_130839.5(UBE3A):c.2032del (p.Gln678fs) rs587781214
NM_130839.5(UBE3A):c.2033A>G (p.Gln678Arg) rs2077166492
NM_130839.5(UBE3A):c.2055T>C (p.Phe685=)
NM_130839.5(UBE3A):c.2068A>T (p.Met690Leu)
NM_130839.5(UBE3A):c.2078T>G (p.Leu693Arg) rs587782920
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp) rs587784523
NM_130839.5(UBE3A):c.2091T>C (p.Gly697=) rs587782924
NM_130839.5(UBE3A):c.211G>T (p.Glu71Ter) rs1207660411
NM_130839.5(UBE3A):c.2124+10G>A rs1595589409
NM_130839.5(UBE3A):c.2124+14T>C
NM_130839.5(UBE3A):c.2124+19T>G rs587782925
NM_130839.5(UBE3A):c.2124+1G>T rs2152693602
NM_130839.5(UBE3A):c.2124+3A>G
NM_130839.5(UBE3A):c.2124+6_2124+9del rs756899000
NM_130839.5(UBE3A):c.2124+9_2124+10insTT rs2077158910
NM_130839.5(UBE3A):c.2125-11G>A
NM_130839.5(UBE3A):c.2125-1G>A rs1064795001
NM_130839.5(UBE3A):c.2125-20G>A rs2152684554
NM_130839.5(UBE3A):c.2125-2A>C rs587780580
NM_130839.5(UBE3A):c.2125-4A>G
NM_130839.5(UBE3A):c.2129T>G (p.Phe710Cys) rs587781237
NM_130839.5(UBE3A):c.2145T>C (p.Ser715=) rs2152684375
NM_130839.5(UBE3A):c.2153T>G (p.Ile718Ser)
NM_130839.5(UBE3A):c.2162A>T (p.Lys721Ile) rs1555389881
NM_130839.5(UBE3A):c.2162_2163insTATT (p.Lys721fs) rs587781215
NM_130839.5(UBE3A):c.2162_2166dup (p.Val723fs) rs2152684235
NM_130839.5(UBE3A):c.2168T>G (p.Val723Gly)
NM_130839.5(UBE3A):c.2169A>G (p.Val723=)
NM_130839.5(UBE3A):c.2181C>G (p.Phe727Leu) rs2076974201
NM_130839.5(UBE3A):c.2183A>C (p.Lys728Thr)
NM_130839.5(UBE3A):c.2198G>T (p.Gly733Val) rs1595572384
NM_130839.5(UBE3A):c.2204A>G (p.His735Arg)
NM_130839.5(UBE3A):c.2205T>C (p.His735=)
NM_130839.5(UBE3A):c.2224C>T (p.Pro742Ser) rs2152684043
NM_130839.5(UBE3A):c.2230_2231dup (p.Tyr745fs)
NM_130839.5(UBE3A):c.2230_2234dup (p.Tyr745Ter) rs587781216
NM_130839.5(UBE3A):c.2237T>A (p.Leu746Ter) rs587781217
NM_130839.5(UBE3A):c.2238_2240del (p.Leu746del) rs2076968392
NM_130839.5(UBE3A):c.2238dup (p.Phe747fs) rs797046085
NM_130839.5(UBE3A):c.2239T>C (p.Phe747Leu) rs2076968651
NM_130839.5(UBE3A):c.2239T>G (p.Phe747Val) rs2076968651
NM_130839.5(UBE3A):c.2246del (p.Pro749fs) rs587781218
NM_130839.5(UBE3A):c.2263C>G (p.Leu755Val) rs1345019600
NM_130839.5(UBE3A):c.2265_2267dup (p.Ile756dup) rs2152683847
NM_130839.5(UBE3A):c.2268A>C (p.Ile756=)
NM_130839.5(UBE3A):c.2273G>A (p.Gly758Glu)
NM_130839.5(UBE3A):c.2278C>T (p.Arg760Trp)
NM_130839.5(UBE3A):c.2279G>A (p.Arg760Gln) rs761011538
NM_130839.5(UBE3A):c.2280+14dup
NM_130839.5(UBE3A):c.2280+18T>G rs200901786
NM_130839.5(UBE3A):c.2281-15T>C rs767720713
NM_130839.5(UBE3A):c.2286_2291dup (p.Leu762_Asp763dup) rs2152682847
NM_130839.5(UBE3A):c.2293C>T (p.Gln765Ter) rs587781219
NM_130839.5(UBE3A):c.2295A>G (p.Gln765=)
NM_130839.5(UBE3A):c.229G>A (p.Ala77Thr)
NM_130839.5(UBE3A):c.2301A>G (p.Leu767=)
NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter) rs587781220
NM_130839.5(UBE3A):c.2305del (p.Glu769fs) rs587781221
NM_130839.5(UBE3A):c.2307_2311dup (p.Thr771fs) rs587781222
NM_130839.5(UBE3A):c.2308del (p.Thr770fs)
NM_130839.5(UBE3A):c.2313A>G (p.Thr771=) rs2152682737
NM_130839.5(UBE3A):c.2323G>A (p.Gly775Ser) rs1566887391
NM_130839.5(UBE3A):c.2328C>A (p.Gly776=)
NM_130839.5(UBE3A):c.232A>G (p.Lys78Glu)
NM_130839.5(UBE3A):c.2343T>C (p.Ser781=)
NM_130839.5(UBE3A):c.2344G>C (p.Val782Leu)
NM_130839.5(UBE3A):c.2344_2345del (p.Val782fs) rs2076939980
NM_130839.5(UBE3A):c.2345T>C (p.Val782Ala)
NM_130839.5(UBE3A):c.2349dup (p.Ile784fs) rs587781223
NM_130839.5(UBE3A):c.2352T>C (p.Ile784=)
NM_130839.5(UBE3A):c.2354+10T>C rs1555389575
NM_130839.5(UBE3A):c.2354+12A>G rs748038950
NM_130839.5(UBE3A):c.2354+20A>G rs587782911
NM_130839.5(UBE3A):c.2354+6G>A rs771697024
NM_130839.5(UBE3A):c.2354+7T>A
NM_130839.5(UBE3A):c.2355-3T>C rs2074512326
NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter) rs111033595
NM_130839.5(UBE3A):c.2378_2381del (p.Ser793fs) rs2074508602
NM_130839.5(UBE3A):c.2385del (p.Asp796fs) rs2152515439
NM_130839.5(UBE3A):c.2388T>C (p.Asp796=)
NM_130839.5(UBE3A):c.238T>C (p.Cys80Arg) rs2152848080
NM_130839.5(UBE3A):c.2391A>T (p.Glu797Asp)
NM_130839.5(UBE3A):c.2397_2400dup (p.Leu801fs) rs797046086
NM_130839.5(UBE3A):c.2404_2405del (p.Phe802fs) rs587781224
NM_130839.5(UBE3A):c.2406_2414del (p.Leu803_Phe805del) rs1555380809
NM_130839.5(UBE3A):c.2410C>T (p.Gln804Ter) rs2074504404
NM_130839.5(UBE3A):c.2416A>G (p.Thr806Ala) rs2074503291
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.2421G>A (p.Thr807=) rs1239525577
NM_130839.5(UBE3A):c.2423G>A (p.Gly808Asp) rs2152515149
NM_130839.5(UBE3A):c.2426_2427del (p.Thr809fs) rs1595375630
NM_130839.5(UBE3A):c.2430C>T (p.Asp810=) rs1566825584
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs) rs587781225
NM_130839.5(UBE3A):c.2430_2433dup (p.Ala812fs) rs587781225
NM_130839.5(UBE3A):c.2442G>A (p.Val814=) rs1595375310
NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu) rs1595375255
NM_130839.5(UBE3A):c.2458_2461dup (p.Lys821fs)
NM_130839.5(UBE3A):c.2463GAT[1] (p.Met822del) rs587781238
NM_130839.5(UBE3A):c.2464A>T (p.Met822Leu)
NM_130839.5(UBE3A):c.2470A>G (p.Ile824Val)
NM_130839.5(UBE3A):c.2471T>A (p.Ile824Lys) rs2152514867
NM_130839.5(UBE3A):c.247C>T (p.His83Tyr) rs1452134414
NM_130839.5(UBE3A):c.2498+19G>C
NM_130839.5(UBE3A):c.2498+1G>A rs2152514807
NM_130839.5(UBE3A):c.2498+2T>C rs2152514800
NM_130839.5(UBE3A):c.2498+3A>G rs2074491163
NM_130839.5(UBE3A):c.2499-12T>C
NM_130839.5(UBE3A):c.2499-14T>G
NM_130839.5(UBE3A):c.2499-19del
NM_130839.5(UBE3A):c.2499-19dup rs549180002
NM_130839.5(UBE3A):c.2499-31T>G rs587782912
NM_130839.5(UBE3A):c.2499-40C>T rs373042168
NM_130839.5(UBE3A):c.2503C>A (p.Pro835Thr)
NM_130839.5(UBE3A):c.2506A>G (p.Thr836Ala)
NM_130839.5(UBE3A):c.2508A>C (p.Thr836=) rs1028493022
NM_130839.5(UBE3A):c.2508_2510dup (p.Ser837_His838insSer)
NM_130839.5(UBE3A):c.2510C>T (p.Ser837Phe)
NM_130839.5(UBE3A):c.2515_2531dup (p.Leu846fs) rs2152507134
NM_130839.5(UBE3A):c.2517_2553dup (p.Lys852delinsLeuLeuTer) rs1595362860
NM_130839.5(UBE3A):c.2521T>G (p.Phe841Val)
NM_130839.5(UBE3A):c.2523_2566dup (p.Lys856fs) rs587781230
NM_130839.5(UBE3A):c.2523_2581dup (p.Lys861delinsIleMetCysPheTyrPheArgAsnThrGlnAlaLysLysAsnLeuLysArgAspCysTer) rs1555379745
NM_130839.5(UBE3A):c.2534T>A (p.Leu845Ter) rs587781226
NM_130839.5(UBE3A):c.2535_2538del (p.Leu845fs) rs863224940
NM_130839.5(UBE3A):c.2535_2551del (p.Leu846fs) rs1064792950
NM_130839.5(UBE3A):c.2538del (p.Pro847fs) rs587781227
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His) rs587784526
NM_130839.5(UBE3A):c.2545_2560dup (p.Lys854fs)
NM_130839.5(UBE3A):c.2547C>G (p.Tyr849Ter) rs1445563777
NM_130839.5(UBE3A):c.2547C>T (p.Tyr849=)
NM_130839.5(UBE3A):c.2547_2567dup (p.Leu855_Lys856insAsnSerSerLysGluLysLeu) rs587781240
NM_130839.5(UBE3A):c.2547_2614del (p.Ser850fs) rs1555379684
NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter) rs587781228
NM_130839.5(UBE3A):c.2553_2569del (p.Ser851fs) rs1057519062
NM_130839.5(UBE3A):c.2557G>C (p.Glu853Gln)
NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs) rs587781229
NM_130839.5(UBE3A):c.2562dup (p.Leu855fs) rs797046087
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe) rs587783097
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs) rs398124440
NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer) rs398124440
NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs) rs1555379800
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.2565_2584dup (p.Ala862delinsValLysArgAspCysTer)
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) rs587781231
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2575T>C (p.Leu859=)
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)
NM_130839.5(UBE3A):c.2591C>T (p.Thr864Met)
NM_130839.5(UBE3A):c.2592G>C (p.Thr864=)
NM_130839.5(UBE3A):c.259_262dup (p.Gly88fs) rs587780566
NM_130839.5(UBE3A):c.2600_2604dup (p.Phe869fs) rs2074288628
NM_130839.5(UBE3A):c.2604A>T (p.Gly868=) rs965417906
NM_130839.5(UBE3A):c.2607dup (p.Gly870fs) rs797046088
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) rs587784528
NM_130839.5(UBE3A):c.2614C>T (p.Leu872=) rs2152506657
NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?) rs587781232
NM_130839.5(UBE3A):c.2618A>T (p.Ter873Leu) rs76794400
NM_130839.5(UBE3A):c.270C>T (p.Ser90=) rs2152848022
NM_130839.5(UBE3A):c.274G>C (p.Ala92Pro)
NM_130839.5(UBE3A):c.275C>T (p.Ala92Val) rs2152847994
NM_130839.5(UBE3A):c.278A>C (p.Tyr93Ser) rs772952625
NM_130839.5(UBE3A):c.290C>G (p.Ser97Trp) rs772110423
NM_130839.5(UBE3A):c.296G>A (p.Gly99Asp) rs943659663
NM_130839.5(UBE3A):c.301C>T (p.Pro101Ser)
NM_130839.5(UBE3A):c.303C>T (p.Pro101=) rs2152847825
NM_130839.5(UBE3A):c.303dup (p.Asn102fs)
NM_130839.5(UBE3A):c.307A>G (p.Asn103Asp) rs2081069977
NM_130839.5(UBE3A):c.311C>T (p.Ser104Phe)
NM_130839.5(UBE3A):c.323_324del (p.Ile108fs) rs587780567
NM_130839.5(UBE3A):c.328A>G (p.Met110Val) rs369853017
NM_130839.5(UBE3A):c.335dup (p.Lys113fs) rs587780568
NM_130839.5(UBE3A):c.337_340del (p.Lys113fs) rs587780569
NM_130839.5(UBE3A):c.339A>G (p.Lys113=)
NM_130839.5(UBE3A):c.342C>A (p.Gly114=) rs142726511
NM_130839.5(UBE3A):c.343G>A (p.Ala115Thr) rs376815580
NM_130839.5(UBE3A):c.343G>T (p.Ala115Ser)
NM_130839.5(UBE3A):c.345T>G (p.Ala115=) rs1308187741
NM_130839.5(UBE3A):c.361+14T>C
NM_130839.5(UBE3A):c.362-10G>A
NM_130839.5(UBE3A):c.362-10G>T rs1407383738
NM_130839.5(UBE3A):c.362-11dup
NM_130839.5(UBE3A):c.362-13T>C
NM_130839.5(UBE3A):c.362-2A>T rs587780578
NM_130839.5(UBE3A):c.367A>C (p.Thr123Pro)
NM_130839.5(UBE3A):c.367A>G (p.Thr123Ala) rs1211073576
NM_130839.5(UBE3A):c.368C>G (p.Thr123Ser) rs2080325563
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer) rs587780570
NM_130839.5(UBE3A):c.376A>C (p.Thr126Pro) rs111033596
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys) rs587781241
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs) rs587784529
NM_130839.5(UBE3A):c.387G>A (p.Lys129=)
NM_130839.5(UBE3A):c.390A>G (p.Val130=)
NM_130839.5(UBE3A):c.393T>A (p.Tyr131Ter) rs2152823877
NM_130839.5(UBE3A):c.400C>A (p.Leu134Ile) rs566793027
NM_130839.5(UBE3A):c.400C>T (p.Leu134Phe) rs566793027
NM_130839.5(UBE3A):c.402T>A (p.Leu134=)
NM_130839.5(UBE3A):c.406T>C (p.Leu136=) rs1566962877
NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg) rs587782907
NM_130839.5(UBE3A):c.410G>A (p.Cys137Tyr) rs2080319240
NM_130839.5(UBE3A):c.422A>T (p.Glu141Val) rs2152823762
NM_130839.5(UBE3A):c.422_423del (p.Glu141fs) rs587780571
NM_130839.5(UBE3A):c.425A>C (p.Asp142Ala) rs1595815771
NM_130839.5(UBE3A):c.435T>C (p.Pro145=)
NM_130839.5(UBE3A):c.440del (p.Ile147fs) rs587784530
NM_130839.5(UBE3A):c.443G>A (p.Arg148His) rs2080315079
NM_130839.5(UBE3A):c.444T>G (p.Arg148=) rs1860879871
NM_130839.5(UBE3A):c.448_459del (p.Ile150_Val153del) rs587784531
NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr) rs111033597
NM_130839.5(UBE3A):c.454A>G (p.Arg152Gly) rs772621378
NM_130839.5(UBE3A):c.458T>G (p.Val153Gly) rs587782915
NM_130839.5(UBE3A):c.459T>C (p.Val153=)
NM_130839.5(UBE3A):c.459T>G (p.Val153=) rs1566962536
NM_130839.5(UBE3A):c.461T>C (p.Phe154Ser)
NM_130839.5(UBE3A):c.463dup (p.Ser155fs) rs587780572
NM_130839.5(UBE3A):c.477A>G (p.Ala159=) rs28528079
NM_130839.5(UBE3A):c.488dup (p.Ser163fs)
NM_130839.5(UBE3A):c.494G>A (p.Arg165Gln)
NM_130839.5(UBE3A):c.558T>C (p.Asp186=) rs1595814554
NM_130839.5(UBE3A):c.565_571del (p.Glu189fs) rs587784532
NM_130839.5(UBE3A):c.570G>T (p.Lys190Asn) rs780715298
NM_130839.5(UBE3A):c.574A>G (p.Lys192Glu) rs757072130
NM_130839.5(UBE3A):c.578C>G (p.Ala193Gly) rs2080300076
NM_130839.5(UBE3A):c.580G>C (p.Ala194Pro) rs751370485
NM_130839.5(UBE3A):c.580G>T (p.Ala194Ser)
NM_130839.5(UBE3A):c.589G>A (p.Ala197Thr) rs752711811
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser) rs147145506
NM_130839.5(UBE3A):c.603A>G (p.Glu201=)
NM_130839.5(UBE3A):c.607del (p.Asp203fs) rs587780573
NM_130839.5(UBE3A):c.610T>C (p.Ser204Pro)
NM_130839.5(UBE3A):c.613_614del (p.Glu205fs)
NM_130839.5(UBE3A):c.618A>G (p.Ala206=) rs143484751
NM_130839.5(UBE3A):c.62+14G>C
NM_130839.5(UBE3A):c.62+1_62+2insAA rs797046084
NM_130839.5(UBE3A):c.62+20G>A rs587782906
NM_130839.5(UBE3A):c.62+7G>A rs1440979314
NM_130839.5(UBE3A):c.62+9A>G rs2153049609
NM_130839.5(UBE3A):c.624C>T (p.Ser208=)
NM_130839.5(UBE3A):c.625T>C (p.Ser209Pro)
NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter) rs1566961418
NM_130839.5(UBE3A):c.629G>A (p.Arg210Lys)
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr) rs587780577
NM_130839.5(UBE3A):c.63-14_63-7del rs794727306
NM_130839.5(UBE3A):c.63-19_63-17del rs587782921
NM_130839.5(UBE3A):c.63-4A>G
NM_130839.5(UBE3A):c.630G>T (p.Arg210Ser)
NM_130839.5(UBE3A):c.633A>G (p.Ile211Met)
NM_130839.5(UBE3A):c.640dup (p.Ser214fs) rs587780574
NM_130839.5(UBE3A):c.641G>T (p.Ser214Ile) rs2152822939
NM_130839.5(UBE3A):c.649G>A (p.Gly217Arg)
NM_130839.5(UBE3A):c.651A>G (p.Gly217=)
NM_130839.5(UBE3A):c.654C>T (p.Asp218=) rs1057523244
NM_130839.5(UBE3A):c.654CAA[1] (p.Asn220del) rs763097042
NM_130839.5(UBE3A):c.656A>G (p.Asn219Ser)
NM_130839.5(UBE3A):c.656_657insTTGA (p.Asn219_Asn220insTer)
NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter) rs1490279918
NM_130839.5(UBE3A):c.680ATG[1] (p.Asp228del) rs773438461
NM_130839.5(UBE3A):c.684T>C (p.Asp228=)
NM_130839.5(UBE3A):c.695A>T (p.Asp232Val) rs587780581
NM_130839.5(UBE3A):c.696T>C (p.Asp232=) rs1057523332
NM_130839.5(UBE3A):c.699T>C (p.Ile233=)
NM_130839.5(UBE3A):c.704C>T (p.Ala235Val)
NM_130839.5(UBE3A):c.70G>A (p.Ala24Thr)
NM_130839.5(UBE3A):c.718T>C (p.Tyr240His)
NM_130839.5(UBE3A):c.721A>G (p.Thr241Ala)
NM_130839.5(UBE3A):c.730C>T (p.Leu244Phe) rs2152822674
NM_130839.5(UBE3A):c.732C>T (p.Leu244=) rs1060504406
NM_130839.5(UBE3A):c.736A>G (p.Asn246Asp)
NM_130839.5(UBE3A):c.745A>G (p.Ile249Val) rs951801729
NM_130839.5(UBE3A):c.748G>T (p.Glu250Ter) rs587780575
NM_130839.5(UBE3A):c.764A>G (p.Asn255Ser)
NM_130839.5(UBE3A):c.770T>A (p.Leu257His) rs587780582
NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro) rs587780582
NM_130839.5(UBE3A):c.772G>A (p.Val258Ile)
NM_130839.5(UBE3A):c.777T>A (p.Tyr259Ter) rs587780576
NM_130839.5(UBE3A):c.779T>A (p.Leu260Ter)
NM_130839.5(UBE3A):c.807G>A (p.Thr269=) rs2080268979
NM_130839.5(UBE3A):c.810T>A (p.Tyr270Ter) rs587781190
NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter) rs997044541
NM_130839.5(UBE3A):c.827G>A (p.Arg276Gln)
NM_130839.5(UBE3A):c.834T>C (p.Pro278=) rs2152822349
NM_130839.5(UBE3A):c.835A>G (p.Asn279Asp) rs376828905
NM_130839.5(UBE3A):c.848T>G (p.Leu283Trp) rs587780583
NM_130839.5(UBE3A):c.853A>G (p.Ile285Val) rs2080263323
NM_130839.5(UBE3A):c.854T>C (p.Ile285Thr) rs1566959617
NM_130839.5(UBE3A):c.855_857dup (p.Ile286_Val287insIle)
NM_130839.5(UBE3A):c.859G>A (p.Val287Ile) rs1064794579
NM_130839.5(UBE3A):c.867G>A (p.Glu289=)
NM_130839.5(UBE3A):c.869A>C (p.Asn290Thr) rs587782908
NM_130839.5(UBE3A):c.873A>C (p.Arg291Ser)
NM_130839.5(UBE3A):c.873A>G (p.Arg291=) rs1213980033
NM_130839.5(UBE3A):c.883A>G (p.Ser295Gly) rs1595810000
NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter) rs587784533
NM_130839.5(UBE3A):c.898G>T (p.Glu300Ter)
NM_130839.5(UBE3A):c.915A>G (p.Leu305=) rs587782923
NM_130839.5(UBE3A):c.916T>A (p.Phe306Ile) rs2080257342
NM_130839.5(UBE3A):c.927G>T (p.Ala309=) rs576963061
NM_130839.5(UBE3A):c.936G>A (p.Lys312=) rs867585000
NM_130839.5(UBE3A):c.946G>T (p.Ala316Ser)
NM_130839.5(UBE3A):c.954A>G (p.Gln318=)
NM_130839.5(UBE3A):c.959A>G (p.Lys320Arg)
NM_130839.5(UBE3A):c.963G>A (p.Leu321=)
NM_130839.5(UBE3A):c.981A>G (p.Lys327=) rs1555400511
NM_130839.5(UBE3A):c.984C>T (p.Tyr328=)
NM_130839.5(UBE3A):c.986A>T (p.Asn329Ile)
NM_130839.5(UBE3A):c.993C>A (p.Asp331Glu)
Single allele
UBE3A, 15-BP DEL/7-BP INS, NT3240

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.