ClinVar Miner

List of variants reported as pathogenic for Beckwith-Wiedemann syndrome

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ClinVar version:
Total variants: 124
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HGVS dbSNP
CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG
H19, 1.8-KB DEL
H19, 5.3-KB DEL
KCNQ1OT1, DEL
NC_000005.10:g.(?_177135084)_(177295479_?)del
NC_000005.10:g.(?_177135094)_(177295469_?)del
NC_000005.10:g.(?_177235801)_(177239885_?)del
NC_000005.10:g.(?_177280545)_(177283948_?)del
NC_000005.10:g.(?_177288799)_(177288945_?)del
NC_000011.10:g.(?_2883979)_(2885755_?)del
NG_016165.1:g.(170_?)_(?_2014)del
NM_001122630.2(CDKN1C):c.*5+2T>C rs587777866
NM_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter) rs137852766
NM_001122630.2(CDKN1C):c.156_157insTTCCAGCTGG (p.Asp53fs) rs1554938197
NM_001122630.2(CDKN1C):c.163del (p.Gln55fs) rs1554938194
NM_001122630.2(CDKN1C):c.277_278delinsG (p.Leu93fs) rs387906399
NM_001122630.2(CDKN1C):c.278_279insAGCA (p.Pro95fs)
NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs)
NM_001122630.2(CDKN1C):c.300dup (p.Ala101fs) rs786205235
NM_001122630.2(CDKN1C):c.351_358del (p.Leu118fs) rs1554938087
NM_001122630.2(CDKN1C):c.354del (p.Glu119fs) rs1590150660
NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter)
NM_001122630.2(CDKN1C):c.367dup (p.Glu123fs) rs786205236
NM_001122630.2(CDKN1C):c.417_420del (p.Val140fs)
NM_001122630.2(CDKN1C):c.546del (p.Pro183fs)
NM_001122630.2(CDKN1C):c.574_598dup (p.Ala200fs)
NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs) rs1554937847
NM_001122630.2(CDKN1C):c.596_597insGCTCCGGCCCC (p.Ala200fs) rs786205241
NM_001122630.2(CDKN1C):c.598delinsAA (p.Ala200fs) rs786205239
NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs)
NM_001122630.2(CDKN1C):c.602del (p.Pro201fs) rs786205237
NM_001122630.2(CDKN1C):c.608_611delinsGGG (p.Pro203fs) rs786205240
NM_001122630.2(CDKN1C):c.614del (p.Pro205fs) rs1564929584
NM_001122630.2(CDKN1C):c.637_652delinsCCC (p.Ala213fs)
NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter) rs1564929520
NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter) rs483352988
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter) rs797045445
NM_001122630.2(CDKN1C):c.673G>T (p.Glu225Ter) rs1564929426
NM_001122630.2(CDKN1C):c.67_68insGAG (p.Phe23Ter)
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter) rs104894200
NM_001122630.2(CDKN1C):c.74_75del (p.Pro25fs)
NM_001122630.2(CDKN1C):c.812C>A (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter)
NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro)
NM_001362475.2(CDKN1C):c.255+161del rs786205234
NM_001362475.2(CDKN1C):c.255+344CCCCGG[4] rs772704243
NM_022455.4(NSD1):c.1046_1048delinsT (p.Thr349fs) rs1581254366
NM_022455.4(NSD1):c.1492C>T (p.Arg498Ter) rs1581315609
NM_022455.4(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.4(NSD1):c.1760del (p.Gly587fs) rs1581316964
NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.4(NSD1):c.1816A>T (p.Lys606Ter) rs1554189131
NM_022455.4(NSD1):c.2049_2053del (p.Ile684fs) rs587784080
NM_022455.4(NSD1):c.207C>A (p.Tyr69Ter) rs1562097849
NM_022455.4(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
NM_022455.4(NSD1):c.2334dup (p.His779fs) rs1554189512
NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.4(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
NM_022455.4(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.4(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.4(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.4(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
NM_022455.4(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.4(NSD1):c.3513dup (p.Lys1172Ter) rs1562213291
NM_022455.4(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.4(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.4(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.4(NSD1):c.3868del (p.Gln1290fs) rs1554195302
NM_022455.4(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
NM_022455.4(NSD1):c.3968_3969dup (p.Ser1324fs) rs1554195840
NM_022455.4(NSD1):c.4213C>T (p.Gln1405Ter) rs1581411478
NM_022455.4(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.4(NSD1):c.4411C>T (p.Arg1471Ter) rs570278338
NM_022455.4(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.4(NSD1):c.4932dup (p.Ala1645fs) rs1562265336
NM_022455.4(NSD1):c.5020del (p.Cys1674fs) rs1581468355
NM_022455.4(NSD1):c.5177C>G (p.Pro1726Arg) rs1554201713
NM_022455.4(NSD1):c.5304-1G>C rs863224905
NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.4(NSD1):c.5431C>T (p.Arg1811Ter) rs587784148
NM_022455.4(NSD1):c.5437_5440del (p.Phe1813fs) rs1554202205
NM_022455.4(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.4(NSD1):c.5849T>G (p.Leu1950Ter) rs1581527915
NM_022455.4(NSD1):c.5950C>T (p.Arg1984Ter) rs797045057
NM_022455.4(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.4(NSD1):c.5994del (p.Met1998fs) rs878855077
NM_022455.4(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.4(NSD1):c.6020_6021dup (p.Asp2008fs) rs1554204923
NM_022455.4(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.4(NSD1):c.6152-5T>G rs755758018
NM_022455.4(NSD1):c.6317del (p.Lys2106fs) rs1562305497
NM_022455.4(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.4(NSD1):c.6426C>G (p.Tyr2142Ter) rs1060501493
NM_022455.4(NSD1):c.6437G>A (p.Cys2146Tyr) rs1554206834
NM_022455.4(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_022455.4(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.4(NSD1):c.6487C>T (p.Gln2163Ter) rs1060501494
NM_022455.4(NSD1):c.6605G>A (p.Cys2202Tyr) rs121908071
NM_022455.4(NSD1):c.7690G>T (p.Glu2564Ter) rs749416834
NM_022455.4(NSD1):c.880_881del (p.Glu294fs) rs1060501492
NM_022455.4(NSD1):c.983G>A (p.Trp328Ter) rs1554185405
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)
NM_022455.5(NSD1):c.1609_1610delinsC (p.Phe537fs)
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)
NM_022455.5(NSD1):c.2097dup (p.Gln700fs)
NM_022455.5(NSD1):c.3781dup (p.Glu1261fs)
NM_022455.5(NSD1):c.4124del (p.Val1375fs)
NM_022455.5(NSD1):c.4216del (p.Arg1406fs)
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs)
NM_022455.5(NSD1):c.4702del (p.Leu1568fs)
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer)
NM_022455.5(NSD1):c.5509+2T>G
NM_022455.5(NSD1):c.6488_6498del (p.Gln2163fs)
NM_022455.5(NSD1):c.6543del (p.Cys2183fs)
NM_172349.2(NSD1):c.1443_1444TC[3] (p.Pro484fs) rs1581319715
NM_172349.2(NSD1):c.1579_1582del (p.Glu527fs) rs587784086
NM_172349.2(NSD1):c.2572_2573CT[2] (p.Ser859fs) rs587784101
NM_172349.2(NSD1):c.2850_2851AG[1] (p.Glu951fs) rs587784104
NM_172349.2(NSD1):c.702delinsGA (p.Asp235fs) rs1562205351
NR_002196.1(H19):n.-7080_-1781del

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