ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
Download table as spreadsheet
HGVS dbSNP
NM_000462.5(UBE3A):c.1618-303_1618-302insCTAA rs3043907
NM_000462.5(UBE3A):c.1762+20del rs1161685208
NM_000462.5(UBE3A):c.2133+9T>C rs79328837
NM_130838.3(UBE3A):c.1548+1G>A rs1555399890
NM_130838.3(UBE3A):c.1549-11T>C rs1555393315
NM_130838.3(UBE3A):c.1694-271A>G rs75606291
NM_130838.3(UBE3A):c.1694-2A>C rs587780579
NM_130838.3(UBE3A):c.1899+11T>A rs771390878
NM_130838.3(UBE3A):c.1900-277C>T rs34020669
NM_130838.3(UBE3A):c.2064+8A>G rs1057522487
NM_130838.3(UBE3A):c.2065-1G>A rs1064795001
NM_130838.3(UBE3A):c.2220+17C>T rs767903684
NM_130838.3(UBE3A):c.2221-12T>C rs1297457627
NM_130838.3(UBE3A):c.2221-15T>C rs767720713
NM_130838.3(UBE3A):c.2221-20A>G rs376920758
NM_130838.3(UBE3A):c.2294+164C>T rs112494329
NM_130838.3(UBE3A):c.2439-152T>C rs17115485
NM_130838.3(UBE3A):c.2439-219A>G rs10047992
NM_130838.3(UBE3A):c.301+18C>G rs773112531
NM_130838.3(UBE3A):c.302-115C>T rs116216054
NM_130839.4(UBE3A):c.63-5T>G rs587783144
NM_130839.5(UBE3A):c.-153G>A rs541619343
NM_130839.5(UBE3A):c.1038T>C (p.Tyr346=) rs1057520481
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760
NM_130839.5(UBE3A):c.1138G>A (p.Val380Ile) rs751838524
NM_130839.5(UBE3A):c.1176A>T (p.Glu392Asp) rs587784510
NM_130839.5(UBE3A):c.1179T>A (p.Asp393Glu) rs143000400
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400
NM_130839.5(UBE3A):c.1185A>G (p.Glu395=) rs114056442
NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter) rs1555400239
NM_130839.5(UBE3A):c.1228T>C (p.Leu410=) rs143310195
NM_130839.5(UBE3A):c.1234_1240GAAGAAA[1] (p.Arg414fs) rs886041283
NM_130839.5(UBE3A):c.1244_1253dup (p.Gly419fs) rs886041603
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=) rs1057520392
NM_130839.5(UBE3A):c.1305T>A (p.Asp435Glu) rs587783102
NM_130839.5(UBE3A):c.1335G>A (p.Glu445=) rs1555400103
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504
NM_130839.5(UBE3A):c.141G>A (p.Thr47=) rs760283316
NM_130839.5(UBE3A):c.1471T>G (p.Tyr491Asp) rs1555399980
NM_130839.5(UBE3A):c.1480A>G (p.Asn494Asp) rs1057517876
NM_130839.5(UBE3A):c.151_152TG[3] (p.Ala52fs) rs886041451
NM_130839.5(UBE3A):c.1521C>T (p.Leu507=) rs878855201
NM_130839.5(UBE3A):c.1541dup (p.Gln515fs) rs1064796224
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.1606C>T (p.Arg536Trp) rs1385940029
NM_130839.5(UBE3A):c.1609-20dup rs779671805
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1621G>A (p.Ala541Thr) rs755392575
NM_130839.5(UBE3A):c.1708_1710del (p.Glu570del) rs1064796545
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) rs749731066
NM_130839.5(UBE3A):c.175C>T (p.Arg59Cys) rs587783098
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033
NM_130839.5(UBE3A):c.1789dup (p.Trp597fs) rs1595601899
NM_130839.5(UBE3A):c.1824G>A (p.Gln608=) rs760397761
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs) rs587784520
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg) rs747626553
NM_130839.5(UBE3A):c.1951_1952TC[1] (p.His652fs) rs886039516
NM_130839.5(UBE3A):c.199A>G (p.Ile67Val) rs587783146
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423
NM_130839.5(UBE3A):c.21A>G (p.Arg7=) rs752810430
NM_130839.5(UBE3A):c.2226C>G (p.Pro742=) rs1555389825
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile) rs587782910
NM_130839.5(UBE3A):c.2355G>A (p.Arg785=) rs587783103
NM_130839.5(UBE3A):c.2370C>T (p.Ile790=) rs767254317
NM_130839.5(UBE3A):c.2391del (p.Glu797fs) rs1595376260
NM_130839.5(UBE3A):c.2400A>T (p.Arg800Ser) rs1446392769
NM_130839.5(UBE3A):c.2402T>A (p.Leu801His) rs1057520393
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.2420C>T (p.Thr807Met) rs587783148
NM_130839.5(UBE3A):c.2431_2432AG[1] (p.Arg811fs) rs886039476
NM_130839.5(UBE3A):c.2469dup (p.Ile824fs) rs886041289
NM_130839.5(UBE3A):c.2499-5_2499-2del rs1555379927
NM_130839.5(UBE3A):c.2503C>T (p.Pro835Ser) rs1555379920
NM_130839.5(UBE3A):c.2519G>C (p.Cys840Ser) rs868694099
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe) rs587783097
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) rs587781231
NM_130839.5(UBE3A):c.2567_2568dup (p.Glu857fs) rs587781231
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2567_2570dup (p.Leu859fs) rs587784527
NM_130839.5(UBE3A):c.2569_2570GA[1] (p.Glu857fs) rs886041252
NM_130839.5(UBE3A):c.2592G>A (p.Thr864=) rs377110924
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400
NM_130839.5(UBE3A):c.290C>T (p.Ser97Leu) rs772110423
NM_130839.5(UBE3A):c.342C>A (p.Gly114=) rs142726511
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs) rs587784529
NM_130839.5(UBE3A):c.393del (p.Val130_Tyr131insTer) rs1595816114
NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg) rs587782907
NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly) rs587783100
NM_130839.5(UBE3A):c.457G>A (p.Val153Ile) rs199636913
NM_130839.5(UBE3A):c.46A>G (p.Ile16Val) rs777538399
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079
NM_130839.5(UBE3A):c.493C>T (p.Arg165Trp) rs1085307791
NM_130839.5(UBE3A):c.507A>G (p.Gln169=) rs1555401033
NM_130839.5(UBE3A):c.512C>G (p.Thr171Ser) rs1383474985
NM_130839.5(UBE3A):c.517del (p.Glu173fs) rs1131691801
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751
NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter) rs1566961418
NM_130839.5(UBE3A):c.654C>T (p.Asp218=) rs1057523244
NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter) rs1490279918
NM_130839.5(UBE3A):c.696T>C (p.Asp232=) rs1057523332
NM_130839.5(UBE3A):c.720C>A (p.Tyr240Ter) rs755078197
NM_130839.5(UBE3A):c.744A>G (p.Lys248=) rs367996463
NM_130839.5(UBE3A):c.744A>T (p.Lys248Asn) rs367996463
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055
NM_130839.5(UBE3A):c.806C>T (p.Thr269Met) rs1459066021
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148
NM_130839.5(UBE3A):c.827del (p.Arg276fs) rs886039448
NM_130839.5(UBE3A):c.859G>A (p.Val287Ile) rs1064794579
NM_130839.5(UBE3A):c.901A>G (p.Met301Val) rs587783147
NM_130839.5(UBE3A):c.926C>G (p.Ala309Gly) rs1057524508
NM_130839.5(UBE3A):c.939A>G (p.Leu313=) rs762154663

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.