List of variants reported as uncertain significance for Cornelia de Lange syndrome by Genetic Services Laboratory, University of Chicago

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 71

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HGVS	dbSNP	gnomAD frequency
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)	rs75817442	0.00402
NM_006306.4(SMC1A):c.855-15C>T	rs147791932	0.00326
NM_005445.4(SMC3):c.255A>G (p.Ser85=)	rs146433240	0.00287
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)	rs80358354	0.00280
NM_006306.4(SMC1A):c.1254+11G>C	rs144354524	0.00258
NM_005445.4(SMC3):c.2934G>A (p.Lys978=)	rs147463420	0.00135
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)	rs76625999	0.00132
NM_006306.4(SMC1A):c.1545+4A>C	rs377270943	0.00129
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=)	rs148075057	0.00101
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)	rs185678374	0.00061
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)	rs142524280	0.00057
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)	rs80358349	0.00048
NM_006265.3(RAD21):c.1617A>G (p.Glu539=)	rs138040512	0.00042
NM_005445.4(SMC3):c.2535+15T>G	rs3818903	0.00040
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)	rs140021654	0.00037
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)	rs180747605	0.00016
NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser)	rs140344071	0.00010
NM_005445.4(SMC3):c.1581T>C (p.His527=)	rs182445355	0.00009
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=)	rs112525060	0.00007
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu)	rs370593530	0.00007
NM_133433.4(NIPBL):c.6589+9A>T	rs370709104	0.00006
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)	rs587783890	0.00005
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser)	rs143152112	0.00005
NM_005445.4(SMC3):c.2268+4C>T	rs587784426	0.00004
NM_005445.4(SMC3):c.507C>T (p.Asp169=)	rs370909218	0.00004
NM_006265.3(RAD21):c.1782C>T (p.Ala594=)	rs61737172	0.00003
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr)	rs201482152	0.00003
NM_133433.4(NIPBL):c.611-10T>C	rs368836554	0.00002
NM_005445.4(SMC3):c.2299T>C (p.Leu767=)	rs139763232	0.00001
NM_006306.4(SMC1A):c.285C>G (p.Ala95=)	rs587784414	0.00001
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=)	rs587784417	0.00001
NM_133433.4(NIPBL):c.2505G>T (p.Gly835=)	rs587783908	0.00001
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu)	rs587783916	0.00001
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn)	rs587783920	0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=)	rs571024836	0.00001
NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys)	rs587783935	0.00001
NM_133433.4(NIPBL):c.6993A>G (p.Glu2331=)	rs587784028	0.00001
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=)	rs587784046	0.00001
NM_005445.4(SMC3):c.2264C>T (p.Pro755Leu)	rs76568464
NM_005445.4(SMC3):c.2427+13C>T	rs190798929
NM_005445.4(SMC3):c.2710T>C (p.Trp904Arg)	rs112281749
NM_005445.4(SMC3):c.2964T>C (p.Asp988=)	rs111611128
NM_005445.4(SMC3):c.377A>G (p.Glu126Gly)	rs113411202
NM_006306.4(SMC1A):c.2350A>G (p.Ile784Val)	rs587784411
NM_018486.3(HDAC8):c.-5G>T	rs587783662
NM_018486.3(HDAC8):c.24G>A (p.Ala8=)	rs61736843
NM_018486.3(HDAC8):c.421_423del (p.Trp141del)	rs587783664
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu)	rs587783904
NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala)	rs587783915
NM_133433.4(NIPBL):c.3503-9T>G	rs587783924
NM_133433.4(NIPBL):c.3856-12A>C	rs199847583
NM_133433.4(NIPBL):c.4321-15A>G	rs587783946
NM_133433.4(NIPBL):c.4422G>T (p.Arg1474Ser)	rs80358358
NM_133433.4(NIPBL):c.5330T>G (p.Ile1777Ser)	rs587783970
NM_133433.4(NIPBL):c.5464G>T (p.Asp1822Tyr)	rs587783976
NM_133433.4(NIPBL):c.6037A>C (p.Ser2013Arg)	rs587783989
NM_133433.4(NIPBL):c.6067C>A (p.His2023Asn)	rs587783990
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg)	rs587783991
NM_133433.4(NIPBL):c.6071C>A (p.Ala2024Glu)	rs587783992
NM_133433.4(NIPBL):c.6108+7A>G	rs587783995
NM_133433.4(NIPBL):c.6182C>T (p.Pro2061Leu)	rs587783999
NM_133433.4(NIPBL):c.6343+5G>A	rs80358383
NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala)	rs587784014
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His)	rs587784020
NM_133433.4(NIPBL):c.678G>A (p.Pro226=)	rs192822119
NM_133433.4(NIPBL):c.7024C>T (p.Leu2342Phe)	rs587784031
NM_133433.4(NIPBL):c.7348_7350del (p.Met2450del)	rs587784041
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3])	rs587784044
NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp)	rs587784045
NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met)	rs587784057
NM_133433.4(NIPBL):c.894A>G (p.Gln298=)	rs587784064

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