ClinVar Miner

List of variants reported as pathogenic for Beckwith-Wiedemann syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NC_000005.9:g.(?_176562095)_(176722470_?)del
NC_000005.9:g.(?_176662802)_(176666886_?)del
NC_000011.9:g.(?_2905209)_(2906985_?)del
NM_000076.2(CDKN1C):c.189_190insTTCCAGCTGG (p.Asp64fs) rs1554938197
NM_000076.2(CDKN1C):c.196del (p.Gln66fs) rs1554938194
NM_000076.2(CDKN1C):c.384_391del (p.Leu129fs) rs1554938087
NM_000076.2(CDKN1C):c.387del (p.Glu130fs)
NM_000076.2(CDKN1C):c.611_635dup (p.Ala213fs) rs1554937847
NM_000076.2(CDKN1C):c.647del (p.Pro216fs) rs1564929584
NM_000076.2(CDKN1C):c.673G>T (p.Glu225Ter) rs1564929520
NM_000076.2(CDKN1C):c.706G>T (p.Glu236Ter) rs1564929426
NM_000076.2(CDKN1C):c.740C>A (p.Ser247Ter) rs104894200
NM_022455.4(NSD1):c.1046_1048delinsT (p.Thr349fs)
NM_022455.4(NSD1):c.1492C>T (p.Arg498Ter)
NM_022455.4(NSD1):c.1509delinsGA (p.Asp504fs) rs1562205351
NM_022455.4(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.4(NSD1):c.1760del (p.Gly587fs)
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.207C>A (p.Tyr69Ter) rs1562097849
NM_022455.4(NSD1):c.2250_2251TC[3] (p.Pro753fs)
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.3067C>T (p.Arg1023Ter) rs587784095
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.3570dup (p.Leu1191fs) rs1562213553
NM_022455.4(NSD1):c.3657_3658AG[1] (p.Glu1220fs) rs587784104
NM_022455.4(NSD1):c.3868del (p.Gln1290fs) rs1554195302
NM_022455.4(NSD1):c.3968_3969dup (p.Ser1324fs) rs1554195840
NM_022455.4(NSD1):c.4213C>T (p.Gln1405Ter)
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)
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)
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.6152-5T>G
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.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.4(NSD1):c.6487C>T (p.Gln2163Ter) rs1060501494
NM_022455.4(NSD1):c.7690G>T (p.Glu2564Ter)
NM_022455.4(NSD1):c.880_881del (p.Glu294fs) rs1060501492
NM_022455.4(NSD1):c.983G>A (p.Trp328Ter) rs1554185405
Single allele

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