ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP
NC_000023.10:g.(?_53276131)_(53449569_?)dup
NC_000023.10:g.(?_53349595)_(53410194_?)dup
NC_000023.10:g.(?_53349615)_(53410174_?)dup
NC_000023.10:g.(?_53407004)_(53449569_?)dup
NM_001281463.1(SMC1A):c.1124A>G (p.Asn375Ser) rs782697006
NM_001281463.1(SMC1A):c.1188+5G>A rs1569358589
NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly) rs587784405
NM_001281463.1(SMC1A):c.161A>G (p.Asn54Ser) rs200243549
NM_001281463.1(SMC1A):c.1781C>T (p.Ala594Val) rs782196047
NM_001281463.1(SMC1A):c.1806T>G (p.Asp602Glu) rs1369059288
NM_001281463.1(SMC1A):c.1810C>T (p.Arg604Cys) rs1556889577
NM_001281463.1(SMC1A):c.1811G>A (p.Arg604His) rs587784407
NM_001281463.1(SMC1A):c.195_206del (p.Glu65_Glu68del) rs1569359505
NM_001281463.1(SMC1A):c.2012G>A (p.Arg671Gln) rs587784408
NM_001281463.1(SMC1A):c.2354+5G>A rs1556889217
NM_001281463.1(SMC1A):c.2380C>T (p.Arg794Cys) rs1556888586
NM_001281463.1(SMC1A):c.2642A>G (p.Lys881Arg) rs1569355072
NM_001281463.1(SMC1A):c.2643-4T>A rs1602405648
NM_001281463.1(SMC1A):c.2672C>T (p.Thr891Ile) rs1569355048
NM_001281463.1(SMC1A):c.2726A>G (p.Gln909Arg) rs782728089
NM_001281463.1(SMC1A):c.2911G>T (p.Ala971Ser) rs782127256
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
NM_001281463.1(SMC1A):c.3112G>A (p.Glu1038Lys) rs1057521921
NM_001281463.1(SMC1A):c.3120C>G (p.Ile1040Met) rs372307204
NM_001281463.1(SMC1A):c.3169A>G (p.Thr1057Ala) rs1602398590
NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=) rs374246357
NM_001281463.1(SMC1A):c.3441+3G>A rs1556885809
NM_001281463.1(SMC1A):c.3526G>C (p.Glu1176Gln) rs782175064
NM_001281463.1(SMC1A):c.3545A>T (p.Tyr1182Phe) rs781998306
NM_001281463.1(SMC1A):c.428C>T (p.Ala143Val) rs1556890833
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val) rs1556891104
NM_001281463.1(SMC1A):c.793_795del (p.Lys265del) rs1556890626
NM_001281463.1(SMC1A):c.854A>G (p.His285Arg) rs1556890616
NM_005445.3(SMC3):c.125T>C (p.Phe42Ser) rs1554881901
NM_005445.3(SMC3):c.1451C>G (p.Ala484Gly) rs758758728
NM_005445.3(SMC3):c.1925T>C (p.Leu642Pro) rs1590563617
NM_005445.3(SMC3):c.3259G>A (p.Val1087Ile) rs147743879
NM_005445.3(SMC3):c.3400T>C (p.Cys1134Arg) rs1554884207
NM_005445.3(SMC3):c.424G>A (p.Gly142Arg) rs1554882316
NM_005445.3(SMC3):c.661C>T (p.Arg221Ter) rs1564789897
NM_005445.4(SMC3):c.3488A>G (p.Glu1163Gly)
NM_006265.2(RAD21):c.1576G>C (p.Glu526Gln) rs373026310
NM_006265.3(RAD21):c.1189G>A (p.Val397Ile)
NM_006265.3(RAD21):c.1711C>T (p.Leu571Phe)
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn)
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro)
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln)
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg)
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=)
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val)
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys)
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu)
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu)
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del)
NM_006306.4(SMC1A):c.2862+4A>G
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=)
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg)
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln)
NM_006306.4(SMC1A):c.392G>A (p.Arg131His)
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys)
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln)
NM_006306.4(SMC1A):c.854+6_854+7del
NM_018486.3(HDAC8):c.1112-2A>G rs1131690790
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018486.3(HDAC8):c.737+3A>G
NM_133433.4(NIPBL):c.1234C>T (p.Arg412Cys)
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met) rs574981584
NM_133433.4(NIPBL):c.2128C>T (p.Arg710Trp)
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686
NM_133433.4(NIPBL):c.2701A>C (p.Asn901His)
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916
NM_133433.4(NIPBL):c.3362A>T (p.Asp1121Val)
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe) rs540365485
NM_133433.4(NIPBL):c.358+3G>C rs1580330420
NM_133433.4(NIPBL):c.3968T>A (p.Met1323Lys)
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.4834T>G (p.Tyr1612Asp)
NM_133433.4(NIPBL):c.4856G>T (p.Arg1619Leu)
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser) rs587783983
NM_133433.4(NIPBL):c.5767_5769del (p.Lys1923del)
NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe) rs1554030218
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln) rs587783999
NM_133433.4(NIPBL):c.64+6T>A rs1554010766
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp) rs1579561078
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met) rs1579570362
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7263+3A>G rs1554033589
NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe)
NM_133433.4(NIPBL):c.7503G>T (p.Arg2501=)
NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=)

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