ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as pathogenic by Baylor Miraca Genetics Laboratories,

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Gene type:
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Total variants: 76
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HGVS dbSNP
NM_000462.5(UBE3A):c.1811_1813CTT[1] (p.Ser605del) rs587781234
NM_000462.5(UBE3A):c.2472_2474GAT[1] (p.Met825del) rs587781238
NM_130838.3(UBE3A):c.1067dup (p.Tyr356Ter) rs587781193
NM_130838.3(UBE3A):c.1076dup (p.Asn359fs) rs587781194
NM_130838.3(UBE3A):c.1114G>T (p.Glu372Ter) rs587781195
NM_130838.3(UBE3A):c.1201C>T (p.Arg401Ter) rs587781196
NM_130838.3(UBE3A):c.1270G>T (p.Glu424Ter) rs587781197
NM_130838.3(UBE3A):c.1285G>T (p.Glu429Ter) rs587781198
NM_130838.3(UBE3A):c.1355dup (p.Ser453fs) rs587781199
NM_130838.3(UBE3A):c.1361_1362del (p.Phe454fs) rs587781200
NM_130838.3(UBE3A):c.1365_1379del (p.Met455_Phe459del) rs587780585
NM_130838.3(UBE3A):c.1371T>A (p.Cys457Ter) rs587781201
NM_130838.3(UBE3A):c.1373C>T (p.Pro458Leu) rs587780584
NM_130838.3(UBE3A):c.1387del (p.Ala463fs) rs587781202
NM_130838.3(UBE3A):c.1505_1506del (p.Leu502fs) rs587781203
NM_130838.3(UBE3A):c.1537dup (p.Ala513fs) rs587781204
NM_130838.3(UBE3A):c.1571dup (p.Asn524fs) rs587781205
NM_130838.3(UBE3A):c.1608dup (p.Glu537Ter) rs587781206
NM_130838.3(UBE3A):c.1633G>A (p.Gly545Arg) rs587781233
NM_130838.3(UBE3A):c.1639_1642dup (p.Ser548fs) rs587781207
NM_130838.3(UBE3A):c.1694-2A>G rs587780579
NM_130838.3(UBE3A):c.1730G>A (p.Trp577Ter) rs587781208
NM_130838.3(UBE3A):c.1750G>C (p.Glu584Gln) rs587781235
NM_130838.3(UBE3A):c.1814_1824del (p.Ile605fs) rs587781209
NM_130838.3(UBE3A):c.1910_1911AG[1] (p.Ser638fs) rs587781210
NM_130838.3(UBE3A):c.1956_1963del (p.Met653fs) rs587781211
NM_130838.3(UBE3A):c.1957dup (p.Met653fs) rs587781212
NM_130838.3(UBE3A):c.1967C>T (p.Thr656Ile) rs587781236
NM_130838.3(UBE3A):c.1972C>T (p.Gln658Ter) rs587781213
NM_130838.3(UBE3A):c.1972del (p.Gln658fs) rs587781214
NM_130838.3(UBE3A):c.199_202dup (p.Gly68fs) rs587780566
NM_130838.3(UBE3A):c.2065-2A>C rs587780580
NM_130838.3(UBE3A):c.2069T>G (p.Phe690Cys) rs587781237
NM_130838.3(UBE3A):c.2102_2103insTATT (p.Lys701fs) rs587781215
NM_130838.3(UBE3A):c.2170_2174dup (p.Tyr725Ter) rs587781216
NM_130838.3(UBE3A):c.2177T>A (p.Leu726Ter) rs587781217
NM_130838.3(UBE3A):c.2186del (p.Pro729fs) rs587781218
NM_130838.3(UBE3A):c.2233C>T (p.Gln745Ter) rs587781219
NM_130838.3(UBE3A):c.2245G>T (p.Glu749Ter) rs587781220
NM_130838.3(UBE3A):c.2245del (p.Glu749fs) rs587781221
NM_130838.3(UBE3A):c.2247_2251dup (p.Thr751fs) rs587781222
NM_130838.3(UBE3A):c.2289dup (p.Ile764fs) rs587781223
NM_130838.3(UBE3A):c.2344_2345del (p.Phe782fs) rs587781224
NM_130838.3(UBE3A):c.2366_2369CAGA[1] (p.Asp790fs) rs587781225
NM_130838.3(UBE3A):c.2463_2521dup (p.Lys841delinsIleMetCysPheTyrPheArgAsnThrGlnAlaLysLysAsnLeuLysArgAspCysTer) rs1555379745
NM_130838.3(UBE3A):c.2474T>A (p.Leu825Ter) rs587781226
NM_130838.3(UBE3A):c.2478del (p.Pro827fs) rs587781227
NM_130838.3(UBE3A):c.2480C>T (p.Pro827Leu) rs587781239
NM_130838.3(UBE3A):c.2487_2507dup (p.Lys836_Glu837insAsnSerSerLysGluLysLeu) rs587781240
NM_130838.3(UBE3A):c.2487_2554del (p.Ser830fs) rs1555379684
NM_130838.3(UBE3A):c.2489C>G (p.Ser830Ter) rs587781228
NM_130838.3(UBE3A):c.2497_2500dup (p.Lys834fs) rs587781229
NM_130838.3(UBE3A):c.2503_2506dup (p.Lys836delinsThrTer) rs398124440
NM_130838.3(UBE3A):c.2507_2508del (p.Lys836fs) rs587781231
NM_130838.3(UBE3A):c.2507_2510del (p.Lys836fs) rs587784527
NM_130838.3(UBE3A):c.2556_*6del (p.Ter853GlnextTer?) rs587781232
NM_130838.3(UBE3A):c.2558A>T (p.Ter853Leu) rs76794400
NM_130838.3(UBE3A):c.263_264del (p.Ile88fs) rs587780567
NM_130838.3(UBE3A):c.275dup (p.Lys93fs) rs587780568
NM_130838.3(UBE3A):c.277_280del (p.Lys93fs) rs587780569
NM_130838.3(UBE3A):c.2T>C (p.Met1Thr) rs587780577
NM_130838.3(UBE3A):c.302-2A>T rs587780578
NM_130838.3(UBE3A):c.308_311CTTA[1] (p.Thr103_Tyr104insTer) rs587780570
NM_130838.3(UBE3A):c.358_359AG[2] (p.Glu121fs) rs587780571
NM_130838.3(UBE3A):c.403dup (p.Ser135fs) rs587780572
NM_130838.3(UBE3A):c.547del (p.Asp183fs) rs587780573
NM_130838.3(UBE3A):c.580dup (p.Ser194fs) rs587780574
NM_130838.3(UBE3A):c.635A>T (p.Asp212Val) rs587780581
NM_130838.3(UBE3A):c.688G>T (p.Glu230Ter) rs587780575
NM_130838.3(UBE3A):c.710T>C (p.Leu237Pro) rs587780582
NM_130838.3(UBE3A):c.717T>A (p.Tyr239Ter) rs587780576
NM_130838.3(UBE3A):c.750T>A (p.Tyr250Ter) rs587781190
NM_130838.3(UBE3A):c.788T>G (p.Leu263Trp) rs587780583
NM_130838.3(UBE3A):c.961C>T (p.Gln321Ter) rs587781191
NM_130838.3(UBE3A):c.972_978del (p.Thr325fs) rs587781192
NM_130838.3(UBE3A):c.99del (p.Cys34fs) rs587780565

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