"Genetic Services Laboratory, University of Chicago"[submitter] AND "N - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 159103	NM_133433.4(NIPBL):c.3G>T (p.Met1Ile)	NIPBL (M1I)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159191	NM_133433.4(NIPBL):c.64+1G>A	NIPBL	Single nucleotide variant (splice donor variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159192	NM_133433.4(NIPBL):c.64+3A>C	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159193	NM_133433.4(NIPBL):c.64+5G>A	NIPBL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159196	NM_133433.4(NIPBL):c.65-5A>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GPathogenic/Likely pathogenic
Select item 159249	NM_133433.4(NIPBL):c.86del (p.Pro29fs)	NIPBL (P29fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159250	NM_133433.4(NIPBL):c.87A>G (p.Pro29=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 167359	NM_133433.4(NIPBL):c.126T>C (p.Phe42=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 99920	NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)	NIPBL (R45*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 159035	NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter)	NIPBL (E49*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 99923	NM_133433.4(NIPBL):c.192del (p.Gln64fs)	NIPBL (Q64fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159042	NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del)	NIPBL	Deletion (inframe_deletion)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 96332	NM_133433.4(NIPBL):c.198C>G (p.Val66=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 159045	NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro)	NIPBL (L69P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 211625	NM_133433.4(NIPBL):c.212_213dup (p.Val72fs)	NIPBL (V72fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 211629	NM_133433.4(NIPBL):c.286_287insG (p.Leu96fs)	NIPBL (L96fs)	Insertion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159069	NM_133433.4(NIPBL):c.294C>T (p.Ala98=)	NIPBL	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 159073	NM_133433.4(NIPBL):c.310_317del (p.Pro104fs)	NIPBL (P104fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 211631	NM_133433.4(NIPBL):c.314dup (p.Asn105fs)	NIPBL (N105fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159079	NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn)	NIPBL (S111N)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 159083	NM_133433.4(NIPBL):c.345A>G (p.Arg115=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 159089	NM_133433.4(NIPBL):c.358+1G>T	NIPBL	Single nucleotide variant (splice donor variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159090	NM_133433.4(NIPBL):c.358+5G>C	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 159120	NM_133433.4(NIPBL):c.456del (p.Ser153fs)	NIPBL (S153fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 211639	NM_133433.4(NIPBL):c.458+1_458+2dup	NIPBL	Duplication (splice donor variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159146	NM_133433.4(NIPBL):c.534C>T (p.Tyr178=)	NIPBL	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 96343	NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)	NIPBL (A179T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 99935	NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter)	NIPBL (Y195*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159167	NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter)	NIPBL (Q200*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159172	NM_133433.4(NIPBL):c.610+1G>A	NIPBL	Single nucleotide variant (splice donor variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159175	NM_133433.4(NIPBL):c.611-10T>C	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 159178	NM_133433.4(NIPBL):c.615G>A (p.Ser205=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 159209	NM_133433.4(NIPBL):c.678G>A (p.Pro226=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 159229	NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly)	NIPBL (D246G)	Single nucleotide variant (missense variant)	NIPBL-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 159235	NM_133433.4(NIPBL):c.771+1G>A	NIPBL	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 159236	NM_133433.4(NIPBL):c.772-1G>A	NIPBL	Single nucleotide variant (splice acceptor variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159237	NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala)	NIPBL (S261A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159248	NM_133433.4(NIPBL):c.869-1G>A	NIPBL	Single nucleotide variant (splice acceptor variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159252	NM_133433.4(NIPBL):c.892del (p.Gln298fs)	NIPBL (Q298fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159251	NM_133433.4(NIPBL):c.892C>T (p.Gln298Ter)	NIPBL (Q298*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159253	NM_133433.4(NIPBL):c.894A>G (p.Gln298=)	NIPBL	Single nucleotide variant (synonymous variant)	NIPBL-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 159254	NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter)	NIPBL (R308*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159024	NM_133433.4(NIPBL):c.1003del (p.Glu335fs)	NIPBL (E335fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159025	NM_133433.4(NIPBL):c.1033_1036del (p.Tyr345fs)	NIPBL (Y345fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159026	NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 159027	NM_133433.4(NIPBL):c.1057A>T (p.Lys353Ter)	NIPBL (K353*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159028	NM_133433.4(NIPBL):c.1086_1087del (p.Arg364fs)	NIPBL (R364fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 211620	NM_133433.4(NIPBL):c.1146dup (p.Ser383Ter)	NIPBL (S383*)	Duplication (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159029	NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp)	NIPBL (N384D)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 159030	NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)	NIPBL (N384S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +1 more	GBenign/Likely benign
Select item 211621	NM_133433.4(NIPBL):c.1164T>C (p.Asn388=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 159031	NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter)	NIPBL (Q395*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 99919	NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)	NIPBL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159032	NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter)	NIPBL (Q433*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159033	NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter)	NIPBL (Q458*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159034	NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs)	NIPBL (E483fs)	Microsatellite (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 99921	NM_133433.4(NIPBL):c.1445_1448del (p.Arg482fs)	NIPBL (R482fs)	Microsatellite (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 211622	NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs)	NIPBL (E483fs)	Indel (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159036	NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu)	NIPBL (K493E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 96330	NM_133433.4(NIPBL):c.1495+8_1495+10del	NIPBL	Microsatellite (intron variant)	Cornelia de Lange syndrome 1 +3 more	GBenign/Likely benign
Select item 211623	NM_133433.4(NIPBL):c.1496-8A>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 159037	NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs)	NIPBL (R505fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 99922	NM_133433.4(NIPBL):c.1526C>G (p.Ser509Cys)	NIPBL (S509C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 159038	NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter)	NIPBL (Q526*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159039	NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)	NIPBL (T531A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 159040	NM_133433.4(NIPBL):c.1753del (p.Ile585fs)	NIPBL (I585fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 1337519	NM_133433.4(NIPBL):c.1817C>T (p.Pro606Leu)	NIPBL (P606L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 159041	NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter)	NIPBL (R629*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 99924	NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)	NIPBL (E655D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 96331	NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)	NIPBL (K662R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 211624	NM_133433.4(NIPBL):c.1992dup (p.Glu665fs)	NIPBL (E665fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 96333	NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)	NIPBL (N674S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 159043	NM_133433.4(NIPBL):c.2046del (p.Lys682fs)	NIPBL (K682fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159044	NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr)	NIPBL (N689Y)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 159046	NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter)	NIPBL (S698*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 436006	NM_133433.4(NIPBL):c.2105C>T (p.Thr702Ile)	NIPBL (T702I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 159048	NM_133433.4(NIPBL):c.2108del (p.Pro703fs)	NIPBL (P703fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159047	NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs)	NIPBL (P703fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159049	NM_133433.4(NIPBL):c.2256A>G (p.Glu752=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 159050	NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter)	NIPBL (R754*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159051	NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)	NIPBL (R765K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 159052	NM_133433.4(NIPBL):c.2325A>G (p.Lys775=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 159053	NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter)	NIPBL (R797*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 211626	NM_133433.4(NIPBL):c.2394_2397dup (p.Ala800Ter)	NIPBL (A800*)	Duplication (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159054	NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter)	NIPBL (R808*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 96334	NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)	NIPBL (R816H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 159055	NM_133433.4(NIPBL):c.2451C>T (p.Asp817=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1 +1 more	GBenign/Likely benign
Select item 436012	NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs)	NIPBL (Q822fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 211627	NM_133433.4(NIPBL):c.2464del (p.Gln822fs)	NIPBL (Q822fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 96335	NM_133433.4(NIPBL):c.2469A>G (p.Lys823=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 159056	NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu)	NIPBL (S824L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 96336	NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)	NIPBL (R827fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 159057	NM_133433.4(NIPBL):c.2489C>G (p.Ser830Ter)	NIPBL (S830*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159058	NM_133433.4(NIPBL):c.2494C>T (p.Arg832Ter)	NIPBL (R832*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 159059	NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter)	NIPBL (R834*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159060	NM_133433.4(NIPBL):c.2505G>T (p.Gly835=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 211628	NM_133433.4(NIPBL):c.2521C>T (p.Arg841Ter)	NIPBL (R841*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 99925	NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu)	NIPBL (D864E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 96337	NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)	NIPBL (R868*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 436007	NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)	NIPBL (R868Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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