ClinVar for MedGen (Select 1645760) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25724871.	NM_133433.4(NIPBL):c.5272C>T (p.Arg1758Ter) GRCh37: Chr5:37020923 GRCh38: Chr5:37020821	NIPBL	R1758*	Cornelia de Lange syndrome 1	Pathogenic	criteria provided, single submitter
Select item 25022972.	NM_133433.4(NIPBL):c.4455G>A (p.Met1485Ile) GRCh37: Chr5:37010222 GRCh38: Chr5:37010120	NIPBL	M1485I	Cornelia de Lange syndrome 1	Uncertain significance	criteria provided, single submitter
Select item 24983833.	NM_133433.4(NIPBL):c.551dup (p.Gly185fs) GRCh37: Chr5:36962316-36962317 GRCh38: Chr5:36962214-36962215	NIPBL	G185fs	Cornelia de Lange syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 24442544.	NM_133433.4(NIPBL):c.2078C>G (p.Ser693Ter) GRCh37: Chr5:36985360 GRCh38: Chr5:36985258	NIPBL	S693*	Cornelia de Lange syndrome 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24418875.	NM_133433.4(NIPBL):c.812C>T (p.Pro271Leu) GRCh37: Chr5:36972087 GRCh38: Chr5:36971985	NIPBL	P271L	Cornelia de Lange syndrome 1	Uncertain significance (Dec 19, 2022)	criteria provided, single submitter
Select item 24417906.	NM_133433.4(NIPBL):c.2093del (p.Lys697_Ser698insTer) GRCh37: Chr5:36985375 GRCh38: Chr5:36985273	NIPBL		Cornelia de Lange syndrome 1	Pathogenic (Oct 26, 2022)	criteria provided, single submitter
Select item 24343657.	NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr) GRCh37: Chr5:36986106 GRCh38: Chr5:36986004	NIPBL	P942T	Cornelia de Lange syndrome 1	Uncertain significance (Dec 14, 2022)	criteria provided, single submitter
Select item 24343648.	NM_133433.4(NIPBL):c.5182A>G (p.Arg1728Gly) GRCh37: Chr5:37020732 GRCh38: Chr5:37020630	NIPBL	R1728G	Cornelia de Lange syndrome 1	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 24343629.	NM_133433.4(NIPBL):c.2278C>T (p.His760Tyr) GRCh37: Chr5:36985560 GRCh38: Chr5:36985458	NIPBL	H760Y	Cornelia de Lange syndrome 1	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 243436110.	NM_133433.4(NIPBL):c.1434G>A (p.Glu478=) GRCh37: Chr5:36976443 GRCh38: Chr5:36976341	NIPBL		Cornelia de Lange syndrome 1	Uncertain significance (Aug 6, 2019)	criteria provided, single submitter
Select item 243436011.	NM_133433.4(NIPBL):c.3392G>C (p.Ser1131Thr) GRCh37: Chr5:37000562 GRCh38: Chr5:37000460	NIPBL	S1131T	Cornelia de Lange syndrome 1	Uncertain significance (Jan 19, 2023)	criteria provided, single submitter
Select item 243435912.	NM_133433.4(NIPBL):c.194T>G (p.Leu65Arg) GRCh37: Chr5:36955703 GRCh38: Chr5:36955601	NIPBL	L65R	Cornelia de Lange syndrome 1	Uncertain significance (Mar 17, 2021)	criteria provided, single submitter
Select item 243222713.	NM_133433.4(NIPBL):c.6344-1G>A GRCh37: Chr5:37045544 GRCh38: Chr5:37045442	NIPBL		Cornelia de Lange syndrome 1	Likely pathogenic (Oct 21, 2022)	criteria provided, single submitter
Select item 243178514.	NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn) GRCh37: Chr5:36976504 GRCh38: Chr5:36976402	NIPBL	D499N	Cornelia de Lange syndrome 1	Uncertain significance (Jan 20, 2023)	criteria provided, single submitter
Select item 243178015.	NM_133433.4(NIPBL):c.5017C>T (p.Arg1673Cys) GRCh37: Chr5:37020567 GRCh38: Chr5:37020465	NIPBL	R1673C	Cornelia de Lange syndrome 1	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 243166416.	NM_133433.4(NIPBL):c.6222G>A (p.Met2074Ile) GRCh37: Chr5:37044562 GRCh38: Chr5:37044460	NIPBL	M2074I	Cornelia de Lange syndrome 1	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 243016917.	NM_133433.4(NIPBL):c.7068A>G (p.Lys2356=) GRCh37: Chr5:37052473 GRCh38: Chr5:37052371	NIPBL		Cornelia de Lange syndrome 1	Uncertain significance (Feb 22, 2023)	criteria provided, single submitter
Select item 243013418.	NM_133433.4(NIPBL):c.328A>T (p.Lys110Ter) GRCh37: Chr5:36958303 GRCh38: Chr5:36958201	NIPBL	K110*	Cornelia de Lange syndrome 1	Likely pathogenic (Jan 23, 2023)	criteria provided, single submitter
Select item 242721319.	NC_000005.9:g.(?_37002744)_(37046321_?)dup GRCh37: Chr5:37002744-37046321	NIPBL		Cornelia de Lange syndrome 1	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 242721220.	NC_000005.9:g.(?_37036461)_(37036609_?)del GRCh37: Chr5:37036461-37036609	NIPBL		Cornelia de Lange syndrome 1	Pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 241906021.	NM_133433.4(NIPBL):c.5811T>G (p.Val1937=) GRCh37: Chr5:37027463 GRCh38: Chr5:37027361	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 241833622.	NM_133433.4(NIPBL):c.458+9T>C GRCh37: Chr5:36961694 GRCh38: Chr5:36961592	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 241655423.	NM_133433.4(NIPBL):c.6384A>G (p.Pro2128=) GRCh37: Chr5:37045585 GRCh38: Chr5:37045483	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 241543524.	NM_133433.4(NIPBL):c.7502G>A (p.Arg2501Gln) GRCh37: Chr5:37059084 GRCh38: Chr5:37058982	NIPBL	R2501Q	Cornelia de Lange syndrome 1	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 241465525.	NM_133433.4(NIPBL):c.2751T>C (p.Asp917=) GRCh37: Chr5:36986033 GRCh38: Chr5:36985931	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 241464726.	NM_133433.4(NIPBL):c.3318A>G (p.Arg1106=) GRCh37: Chr5:37000488 GRCh38: Chr5:37000386	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 241436927.	NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr) GRCh37: Chr5:36975950 GRCh38: Chr5:36975848	NIPBL	I314T	Cornelia de Lange syndrome 1, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Mar 13, 2023)	criteria provided, conflicting interpretations
Select item 241416328.	NM_133433.4(NIPBL):c.3575-9C>T GRCh37: Chr5:37001082 GRCh38: Chr5:37000980	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 220363429.	NM_133433.4(NIPBL):c.5689_5691del (p.Asn1897del) GRCh37: Chr5:37024801-37024803 GRCh38: Chr5:37024699-37024701	NIPBL	N1897del	Cornelia de Lange syndrome 1	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 220363330.	NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn) GRCh37: Chr5:37022382 GRCh38: Chr5:37022280	NIPBL	D1822N	Cornelia de Lange syndrome 1	Likely pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 220116031.	NM_133433.4(NIPBL):c.5427+16G>A GRCh37: Chr5:37022267 GRCh38: Chr5:37022165	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 219945832.	NM_133433.4(NIPBL):c.2495G>A (p.Arg832Gln) GRCh37: Chr5:36985777 GRCh38: Chr5:36985675	NIPBL	R832Q	Cornelia de Lange syndrome 1, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 219884033.	NM_133433.4(NIPBL):c.5525G>A (p.Arg1842Gln) GRCh37: Chr5:37022443 GRCh38: Chr5:37022341	NIPBL	R1842Q	Cornelia de Lange syndrome 1	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 219849534.	NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=) GRCh37: Chr5:37061048 GRCh38: Chr5:37060946	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 219585335.	NM_133433.4(NIPBL):c.971A>T (p.Lys324Met) GRCh37: Chr5:36975980 GRCh38: Chr5:36975878	NIPBL	K324M	Cornelia de Lange syndrome 1	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 219474836.	NM_133433.4(NIPBL):c.1797A>G (p.Thr599=) GRCh37: Chr5:36985079 GRCh38: Chr5:36984977	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 219395237.	NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=) GRCh37: Chr5:37052560 GRCh38: Chr5:37052458	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 219360438.	NM_133433.4(NIPBL):c.458+19G>A GRCh37: Chr5:36961704 GRCh38: Chr5:36961602	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 219274339.	NM_133433.4(NIPBL):c.5574+7T>G GRCh37: Chr5:37022499 GRCh38: Chr5:37022397	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 219226640.	NM_133433.4(NIPBL):c.7264-19T>C GRCh37: Chr5:37057269 GRCh38: Chr5:37057167	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 219197641.	NM_133433.4(NIPBL):c.2698T>A (p.Ser900Thr) GRCh37: Chr5:36985980 GRCh38: Chr5:36985878	NIPBL	S900T	Cornelia de Lange syndrome 1	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219113242.	NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu) GRCh37: Chr5:36972099 GRCh38: Chr5:36971997	NIPBL	P275L	Cornelia de Lange syndrome 1	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 219061243.	NM_133433.4(NIPBL):c.1626C>T (p.Ser542=) GRCh37: Chr5:36984908 GRCh38: Chr5:36984806	NIPBL		Cornelia de Lange syndrome 1	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 218972844.	NM_133433.4(NIPBL):c.7263+1G>A GRCh37: Chr5:37052669 GRCh38: Chr5:37052567	NIPBL		Cornelia de Lange syndrome 1	Likely pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 218949545.	NM_133433.4(NIPBL):c.5118T>C (p.His1706=) GRCh37: Chr5:37020668 GRCh38: Chr5:37020566	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 218798246.	NM_133433.4(NIPBL):c.5802C>T (p.Thr1934=) GRCh37: Chr5:37026423 GRCh38: Chr5:37026321	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 218797547.	NM_133433.4(NIPBL):c.4421+20G>T GRCh37: Chr5:37008845 GRCh38: Chr5:37008743	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 218667648.	NM_133433.4(NIPBL):c.4830T>G (p.Leu1610=) GRCh37: Chr5:37017174 GRCh38: Chr5:37017072	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 218398149.	NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=) GRCh37: Chr5:37049373 GRCh38: Chr5:37049271	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 218367150.	NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe) GRCh37: Chr5:37063898 GRCh38: Chr5:37063796	NIPBL	L2623F	Cornelia de Lange syndrome 1	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 218163551.	NM_133433.4(NIPBL):c.230+19A>G GRCh37: Chr5:36955758 GRCh38: Chr5:36955656	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 218099052.	NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile) GRCh37: Chr5:36976358 GRCh38: Chr5:36976256	NIPBL	T450I	Cornelia de Lange syndrome 1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 217888953.	NM_133433.4(NIPBL):c.132A>G (p.Ala44=) GRCh37: Chr5:36955641 GRCh38: Chr5:36955539	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 217836854.	NM_133433.4(NIPBL):c.7063-11A>C GRCh37: Chr5:37052457 GRCh38: Chr5:37052355	NIPBL		Cornelia de Lange syndrome 1	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 217724155.	NM_133433.4(NIPBL):c.667G>C (p.Val223Leu) GRCh37: Chr5:36971034 GRCh38: Chr5:36970932	NIPBL	V223L	Cornelia de Lange syndrome 1	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 217671956.	NM_133433.4(NIPBL):c.2087C>T (p.Thr696Ile) GRCh37: Chr5:36985369 GRCh38: Chr5:36985267	NIPBL	T696I	Cornelia de Lange syndrome 1	Uncertain significance (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217086657.	NM_133433.4(NIPBL):c.938A>G (p.Asp313Gly) GRCh37: Chr5:36975947 GRCh38: Chr5:36975845	NIPBL	D313G	Cornelia de Lange syndrome 1	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 216974058.	NM_133433.4(NIPBL):c.5808+6_5808+8del GRCh37: Chr5:37026432-37026434 GRCh38: Chr5:37026330-37026332	NIPBL		Cornelia de Lange syndrome 1	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 216851759.	NM_133433.4(NIPBL):c.1235G>A (p.Arg412His) GRCh37: Chr5:36976244 GRCh38: Chr5:36976142	NIPBL	R412H	Cornelia de Lange syndrome 1	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 216718360.	NM_133433.4(NIPBL):c.2356A>G (p.Thr786Ala) GRCh37: Chr5:36985638 GRCh38: Chr5:36985536	NIPBL	T786A	Cornelia de Lange syndrome 1	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 216715961.	NM_133433.4(NIPBL):c.5709+4G>C GRCh37: Chr5:37024825 GRCh38: Chr5:37024723	NIPBL		Cornelia de Lange syndrome 1	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 216659162.	NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=) GRCh37: Chr5:37049274 GRCh38: Chr5:37049172	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 216581363.	NM_133433.4(NIPBL):c.5428-20T>G GRCh37: Chr5:37022326 GRCh38: Chr5:37022224	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 216514864.	NM_133433.4(NIPBL):c.6051C>G (p.Pro2017=) GRCh37: Chr5:37038783 GRCh38: Chr5:37038681	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 216414165.	NM_133433.4(NIPBL):c.836G>A (p.Cys279Tyr) GRCh37: Chr5:36972111 GRCh38: Chr5:36972009	NIPBL	C279Y	Cornelia de Lange syndrome 1	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 216152866.	NM_133433.4(NIPBL):c.2310G>A (p.Lys770=) GRCh37: Chr5:36985592 GRCh38: Chr5:36985490	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 216029567.	NM_133433.4(NIPBL):c.3664+8C>T GRCh37: Chr5:37001188 GRCh38: Chr5:37001086	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 216017868.	NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=) GRCh37: Chr5:37048611 GRCh38: Chr5:37048509	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 215972869.	NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser) GRCh37: Chr5:36958225 GRCh38: Chr5:36958123	NIPBL	G84S	Cornelia de Lange syndrome 1	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 215540770.	NM_133433.4(NIPBL):c.8294C>T (p.Thr2765Ile) GRCh37: Chr5:37064873 GRCh38: Chr5:37064771	NIPBL	T2765I	Cornelia de Lange syndrome 1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 215522271.	NM_133433.4(NIPBL):c.2331T>C (p.Pro777=) GRCh37: Chr5:36985613 GRCh38: Chr5:36985511	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 215447372.	NM_133433.4(NIPBL):c.8049+7C>T GRCh37: Chr5:37064087 GRCh38: Chr5:37063985	NIPBL	R2686W	Cornelia de Lange syndrome 1	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 215144773.	NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del) GRCh37: Chr5:36985034-36985036 GRCh38: Chr5:36984932-36984934	NIPBL	I585del	Cornelia de Lange syndrome 1	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 215055374.	NM_133433.4(NIPBL):c.6590-12C>T GRCh37: Chr5:37048592 GRCh38: Chr5:37048490	NIPBL		Cornelia de Lange syndrome 1	Benign (May 21, 2022)	criteria provided, single submitter
Select item 214988275.	NM_133433.4(NIPBL):c.8316T>A (p.Ile2772=) GRCh37: Chr5:37064895 GRCh38: Chr5:37064793	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 214846676.	NM_133433.4(NIPBL):c.2058C>T (p.Asn686=) GRCh37: Chr5:36985340 GRCh38: Chr5:36985238	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 214836377.	NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=) GRCh37: Chr5:37063903 GRCh38: Chr5:37063801	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 214577478.	NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp) GRCh37: Chr5:37059044 GRCh38: Chr5:37058942	NIPBL	N2488D	Cornelia de Lange syndrome 1, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jun 2, 2023)	criteria provided, conflicting interpretations
Select item 214505179.	NM_133433.4(NIPBL):c.2754C>T (p.Asp918=) GRCh37: Chr5:36986036 GRCh38: Chr5:36985934	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 214392380.	NM_133433.4(NIPBL):c.1278A>G (p.Thr426=) GRCh37: Chr5:36976287 GRCh38: Chr5:36976185	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 214178681.	NM_133433.4(NIPBL):c.868+17A>G GRCh37: Chr5:36972160 GRCh38: Chr5:36972058	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 213926882.	NM_133433.4(NIPBL):c.7422G>C (p.Lys2474Asn) GRCh37: Chr5:37059004 GRCh38: Chr5:37058902	NIPBL	K2474N	Cornelia de Lange syndrome 1	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 213926483.	NM_133433.4(NIPBL):c.3856-23_3856-13del GRCh37: Chr5:37006435-37006445 GRCh38: Chr5:37006333-37006343	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 213113184.	NM_133433.4(NIPBL):c.546C>T (p.Ser182=) GRCh37: Chr5:36962312 GRCh38: Chr5:36962210	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 212894885.	NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro) GRCh37: Chr5:36972059 GRCh38: Chr5:36971957	NIPBL	S262P	Cornelia de Lange syndrome 1	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 212846586.	NM_133433.4(NIPBL):c.3503-12T>C GRCh37: Chr5:37000907 GRCh38: Chr5:37000805	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212413587.	NM_133433.4(NIPBL):c.7617_7618del (p.Ser2540fs) GRCh37: Chr5:37059196-37059197 GRCh38: Chr5:37059094-37059095	NIPBL	S2540fs	Cornelia de Lange syndrome 1	Pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 212299588.	NM_133433.4(NIPBL):c.4335T>A (p.Tyr1445Ter) GRCh37: Chr5:37008739 GRCh38: Chr5:37008637	NIPBL	Y1445*	Cornelia de Lange syndrome 1	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 212130389.	NM_133433.4(NIPBL):c.5087_5088del (p.Lys1696fs) GRCh37: Chr5:37020634-37020635 GRCh38: Chr5:37020532-37020533	NIPBL	K1696fs	Cornelia de Lange syndrome 1	Pathogenic (Apr 14, 2022)	criteria provided, single submitter
Select item 212056190.	NM_133433.4(NIPBL):c.4733G>A (p.Trp1578Ter) GRCh37: Chr5:37016229 GRCh38: Chr5:37016127	NIPBL	W1578*	Cornelia de Lange syndrome 1	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 211910191.	NM_133433.4(NIPBL):c.1560T>G (p.Gly520=) GRCh37: Chr5:36984842 GRCh38: Chr5:36984740	NIPBL		Cornelia de Lange syndrome 1	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211850792.	NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=) GRCh37: Chr5:37064826 GRCh38: Chr5:37064724	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 211756993.	NM_133433.4(NIPBL):c.2298G>T (p.Arg766Ser) GRCh37: Chr5:36985580 GRCh38: Chr5:36985478	NIPBL	R766S	Cornelia de Lange syndrome 1	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 211236194.	NM_133433.4(NIPBL):c.6249+18C>G GRCh37: Chr5:37044607 GRCh38: Chr5:37044505	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211149395.	NM_133433.4(NIPBL):c.807T>G (p.Ser269=) GRCh37: Chr5:36972082 GRCh38: Chr5:36971980	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 210987296.	NM_133433.4(NIPBL):c.6202A>C (p.Thr2068Pro) GRCh37: Chr5:37044542 GRCh38: Chr5:37044440	NIPBL	T2068P	Cornelia de Lange syndrome 1	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 210950997.	NM_133433.4(NIPBL):c.6954+7A>G GRCh37: Chr5:37049410 GRCh38: Chr5:37049308	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 210729298.	NM_133433.4(NIPBL):c.99T>C (p.Pro33=) GRCh37: Chr5:36955608 GRCh38: Chr5:36955506	NIPBL		Cornelia de Lange syndrome 1	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 210693799.	NM_133433.4(NIPBL):c.6384A>C (p.Pro2128=) GRCh37: Chr5:37045585 GRCh38: Chr5:37045483	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 2103346100.	NM_133433.4(NIPBL):c.4643+10A>G GRCh37: Chr5:37014877 GRCh38: Chr5:37014775	NIPBL		Cornelia de Lange syndrome 1	Likely benign (Feb 25, 2022)	criteria provided, single submitter

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