NIPBL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 144780	GRCh38/hg38 5p13.2(chr5:36570605-37060917)x3	LOC114004393, LOC126807361 +13 more	Copy number gain	See cases	GUncertain significance
Select item 59607	GRCh38/hg38 5p13.2(chr5:36834830-36906334)x1	LOC129993810, LOC129993811 +3 more	Copy number loss	See cases	GPathogenic
Select item 1195876	NM_133433.4(NIPBL):c.-467C>T	NIPBL	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 1	GPathogenic/Likely pathogenic
Select item 1300231	NM_133433.4(NIPBL):c.-457_-456delinsAT	NIPBL	Indel (5 prime UTR variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 353359	NM_133433.4(NIPBL):c.-429del	NIPBL	Deletion (5 prime UTR variant)	De Lange syndrome	GLikely benign
Select item 353360	NM_133433.4(NIPBL):c.-428G>C	NIPBL	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 353362	NM_133433.4(NIPBL):c.-416dup	NIPBL	Duplication (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353361	NM_133433.4(NIPBL):c.-424T>C	NIPBL	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2655410	NM_133433.4(NIPBL):c.-415del	NIPBL	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 353363	NM_133433.4(NIPBL):c.-410C>T	NIPBL	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 353364	NM_133433.4(NIPBL):c.-379G>A	NIPBL	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 353365	NM_133433.4(NIPBL):c.-338C>T	NIPBL	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2983731	NM_133433.4(NIPBL):c.-315del	NIPBL	Deletion (5 prime UTR variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2151	NM_133433.4(NIPBL):c.-321_-320delinsA	NIPBL	Indel (5 prime UTR variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 353366	NM_133433.4(NIPBL):c.-312T>A	NIPBL	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 353367	NM_133433.4(NIPBL):c.-307C>T	NIPBL	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 1	GBenign
Select item 353368	NM_133433.4(NIPBL):c.-265A>G	NIPBL	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 353369	NM_133433.4(NIPBL):c.-243A>C	NIPBL	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 1	GBenign
Select item 353370	NM_133433.4(NIPBL):c.-153dup	NIPBL	Duplication (5 prime UTR variant)	De Lange syndrome	GUncertain significance
Select item 583693	NC_000005.10:g.(?_36877164)_(37064912_?)del	LOC129993812, NIPBL	Deletion	Cornelia de Lange syndrome 1	GPathogenic
Select item 422057	NM_133433.4(NIPBL):c.-80+5del	NIPBL	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 907506	NM_133433.4(NIPBL):c.-80+11G>C	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 57962	GRCh38/hg38 5p13.2(chr5:36886533-37331810)x3	CPLANE1, CPLANE1-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57963	GRCh38/hg38 5p13.2(chr5:36906275-37606265)x3	CPLANE1, CPLANE1-AS1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 1342616	NM_133433.4(NIPBL):c.-79-11559C>T	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2655411	NM_133433.4(NIPBL):c.-79-1599TG[26]	NIPBL	Microsatellite (intron variant)	not provided	GBenign
Select item 2655413	NM_133433.4(NIPBL):c.-79-1599TG[14]	NIPBL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2655412	NM_133433.4(NIPBL):c.-79-1599TG[17]	NIPBL	Microsatellite (intron variant)	not provided	GBenign
Select item 1879621	NM_133433.4(NIPBL):c.-79-1599TG[15]	NIPBL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1675982	NM_133433.4(NIPBL):c.-79-1563_-79-1534del	NIPBL	Deletion (intron variant)	not provided	GBenign
Select item 2655414	NM_133433.4(NIPBL):c.-79-1569_-79-1562del	NIPBL	Deletion (intron variant)	not provided	GBenign
Select item 2655415	NM_133433.4(NIPBL):c.-79-1563_-79-1540del	NIPBL	Deletion (intron variant)	not provided	GLikely benign
Select item 1695124	NM_133433.4(NIPBL):c.-79-1564GC[6]	NIPBL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2139	NM_133433.4(NIPBL):c.2T>A (p.Met1Lys)	NIPBL (M1K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 2051079	NM_133433.4(NIPBL):c.5A>G (p.Asn2Ser)	NIPBL (N2S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 1320125	NM_133433.4(NIPBL):c.10dup (p.Asp4fs)	NIPBL (D4fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 2742379	NM_133433.4(NIPBL):c.19del (p.His7fs)	NIPBL (H7fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 279947	NM_133433.4(NIPBL):c.40dup (p.Ala14fs)	NIPBL (A14fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 167358	NM_133433.4(NIPBL):c.42G>A (p.Ala14=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3338842	NM_133433.4(NIPBL):c.43G>A (p.Gly15Arg)	NIPBL (G15R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2956167	NM_133433.4(NIPBL):c.45G>C (p.Gly15=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 841447	NM_133433.4(NIPBL):c.64+2_64+134del	NIPBL	Deletion (splice donor variant)	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 998799	NM_133433.4(NIPBL):c.64+4del	NIPBL	Deletion (intron variant)	Cornelia de Lange syndrome 1	GUncertain significance
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)	Cornelia de Lange syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 543052	NM_133433.4(NIPBL):c.64+6T>A	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 1175533	NM_133433.4(NIPBL):c.64+215C>T	NIPBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2046716	NM_133433.4(NIPBL):c.65-20T>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GBenign
Select item 516326	NM_133433.4(NIPBL):c.65-17G>C	NIPBL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 587947	NM_133433.4(NIPBL):c.65-5A>C	NIPBL	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
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 180192	NM_133433.4(NIPBL):c.65-3T>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 2630808	NM_133433.4(NIPBL):c.73C>T (p.Gln25Ter)	NIPBL (Q25*)	Single nucleotide variant (nonsense)	NIPBL-related disorder	GLikely 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 2107292	NM_133433.4(NIPBL):c.99T>C (p.Pro33=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 3020510	NM_133433.4(NIPBL):c.103A>G (p.Thr35Ala)	NIPBL (T35A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 795125	NM_133433.4(NIPBL):c.111A>G (p.Thr37=)	NIPBL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592015	NM_133433.4(NIPBL):c.123C>T (p.Leu41=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	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 2178889	NM_133433.4(NIPBL):c.132A>G (p.Ala44=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 99920	NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)	NIPBL (R45*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1 +1 more	GPathogenic
Select item 1918803	NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln)	NIPBL (R45Q)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
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 2141	NM_133433.4(NIPBL):c.150del (p.Asn51fs)	NIPBL (N51fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 930373	NM_133433.4(NIPBL):c.161T>A (p.Leu54Ter)	NIPBL (L54*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 2863427	NM_133433.4(NIPBL):c.163G>A (p.Ala55Thr)	NIPBL (A55T)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2050804	NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly)	NIPBL (R57G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 476584	NM_133433.4(NIPBL):c.169del (p.Arg57fs)	NIPBL (R57fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 353371	NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser)	NIPBL (N60S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2285888	NM_133433.4(NIPBL):c.184G>C (p.Val62Leu)	NIPBL (V62L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 869475	NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter)	NIPBL (S63*)	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 2917307	NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)	NIPBL (L65V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2811952	NM_133433.4(NIPBL):c.194T>C (p.Leu65Pro)	NIPBL (L65P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2434359	NM_133433.4(NIPBL):c.194T>G (p.Leu65Arg)	NIPBL (L65R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
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 provided +3 more	GBenign/Likely benign
Select item 1675983	NM_133433.4(NIPBL):c.200A>G (p.His67Arg)	NIPBL (H67R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1301448	NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser)	NIPBL (N70S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +1 more	GUncertain significance
Select item 2012648	NM_133433.4(NIPBL):c.210C>A (p.Asn70Lys)	NIPBL (N70K)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3369074	NM_133433.4(NIPBL):c.211C>A (p.Gln71Lys)	NIPBL (Q71K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1803349	NM_133433.4(NIPBL):c.215T>C (p.Val72Ala)	NIPBL (V72A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1788608	NM_133433.4(NIPBL):c.225T>C (p.Asp75=)	NIPBL	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 802112	NM_133433.4(NIPBL):c.226del (p.His76fs)	NIPBL (H76fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 642705	NM_133433.4(NIPBL):c.230+5G>A	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 1591676	NM_133433.4(NIPBL):c.230+10A>T	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 1911643	NM_133433.4(NIPBL):c.230+18T>C	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2181635	NM_133433.4(NIPBL):c.230+19A>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign

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