"GeneDx"[submitter] AND "NIPBL"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 422057	NM_133433.4(NIPBL):c.-80+5del	NIPBL	Deletion (intron variant)	not provided +1 more	GLikely benign
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 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 279947	NM_133433.4(NIPBL):c.40dup (p.Ala14fs)	NIPBL (A14fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 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 1175533	NM_133433.4(NIPBL):c.64+215C>T	NIPBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516326	NM_133433.4(NIPBL):c.65-17G>C	NIPBL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 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 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 3369074	NM_133433.4(NIPBL):c.211C>A (p.Gln71Lys)	NIPBL (Q71K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1189332	NM_133433.4(NIPBL):c.231-339_231-338insA	NIPBL	Insertion (intron variant)	not provided	GLikely benign
Select item 1247408	NM_133433.4(NIPBL):c.231-149C>T	NIPBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295343	NM_133433.4(NIPBL):c.231-104_231-103del	NIPBL	Deletion (intron variant)	not provided	GBenign
Select item 1245763	NM_133433.4(NIPBL):c.231-103del	NIPBL	Deletion (intron variant)	not provided	GBenign
Select item 1195066	NM_133433.4(NIPBL):c.231-105_231-103del	NIPBL	Deletion (intron variant)	not provided	GLikely benign
Select item 159069	NM_133433.4(NIPBL):c.294C>T (p.Ala98=)	NIPBL	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1287272	NM_133433.4(NIPBL):c.358+265A>G	NIPBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2428970	NM_133433.4(NIPBL):c.398T>C (p.Met133Thr)	NIPBL (M133T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314823	NM_133433.4(NIPBL):c.527G>C (p.Ser176Thr)	NIPBL (S176T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1314873	NM_133433.4(NIPBL):c.606A>T (p.Gln202His)	NIPBL (Q202H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1252801	NM_133433.4(NIPBL):c.611-238G>A	NIPBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 159178	NM_133433.4(NIPBL):c.615G>A (p.Ser205=)	NIPBL	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2412826	NM_133433.4(NIPBL):c.653T>C (p.Ile218Thr)	NIPBL (I218T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700789	NM_133433.4(NIPBL):c.656A>G (p.His219Arg)	NIPBL (H219R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190663	NM_133433.4(NIPBL):c.700_705del (p.His234_His235del)	NIPBL	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1707010	NM_133433.4(NIPBL):c.731G>A (p.Ser244Asn)	NIPBL (S244N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430444	NM_133433.4(NIPBL):c.771+2T>A	NIPBL	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1256877	NM_133433.4(NIPBL):c.771+244dup	NIPBL	Duplication (intron variant)	not provided	GBenign
Select item 1197336	NM_133433.4(NIPBL):c.771+262G>A	NIPBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421167	NM_133433.4(NIPBL):c.775G>A (p.Gly259Arg)	NIPBL (G259R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 159237	NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala)	NIPBL (S261A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +3 more	GBenign
Select item 1187537	NM_133433.4(NIPBL):c.868+66T>G	NIPBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216930	NM_133433.4(NIPBL):c.868+201C>T	NIPBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197192	NM_133433.4(NIPBL):c.868+231C>T	NIPBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1723591	NM_133433.4(NIPBL):c.878C>T (p.Pro293Leu)	NIPBL (P293L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509661	NM_133433.4(NIPBL):c.891A>C (p.Leu297=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 159254	NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter)	NIPBL (R308*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2571814	NM_133433.4(NIPBL):c.967C>G (p.Gln323Glu)	NIPBL (Q323E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817425	NM_133433.4(NIPBL):c.1050_1051del (p.Pro351fs)	NIPBL (P351fs)	Microsatellite (frameshift variant)	not provided	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 431862	NM_133433.4(NIPBL):c.1273C>G (p.Gln425Glu)	NIPBL (Q425E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +1 more	GUncertain significance
Select item 382735	NM_133433.4(NIPBL):c.1302G>C (p.Val434=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1 +1 more	GLikely benign
Select item 2428792	NM_133433.4(NIPBL):c.1345dup (p.Gln449fs)	NIPBL (Q449fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1314332	NM_133433.4(NIPBL):c.1361A>C (p.Gln454Pro)	NIPBL (Q454P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 199182	NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1311194	NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln)	NIPBL (R479Q)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +1 more	GUncertain significance
Select item 289263	NM_133433.4(NIPBL):c.1456A>G (p.Ile486Val)	NIPBL (I486V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431785	NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn)	NIPBL (D499N)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +1 more	GConflicting classifications of pathogenicity
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 1296466	NM_133433.4(NIPBL):c.1495+38C>A	NIPBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208743	NM_133433.4(NIPBL):c.1495+272G>A	NIPBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3372862	NM_133433.4(NIPBL):c.1510A>G (p.Lys504Glu)	NIPBL (K504E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427030	NM_133433.4(NIPBL):c.1521A>C (p.Gln507His)	NIPBL (Q507H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3370128	NM_133433.4(NIPBL):c.1538A>G (p.Glu513Gly)	NIPBL (E513G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377979	NM_133433.4(NIPBL):c.1586G>T (p.Gly529Val)	NIPBL (G529V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706730	NM_133433.4(NIPBL):c.1610C>A (p.Pro537Gln)	NIPBL (P537Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817551	NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter)	NIPBL (Q554*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1955487	NM_133433.4(NIPBL):c.1678G>C (p.Asp560His)	NIPBL (D560H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1810682	NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr)	NIPBL (D560Y)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +1 more	GUncertain significance
Select item 1706347	NM_133433.4(NIPBL):c.1690A>G (p.Ile564Val)	NIPBL (I564V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3371169	NM_133433.4(NIPBL):c.1729C>T (p.Pro577Ser)	NIPBL (P577S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341056	NM_133433.4(NIPBL):c.1805_1808del (p.Lys602fs)	NIPBL (K602fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 180191	NM_133433.4(NIPBL):c.1808del (p.Lys603fs)	NIPBL (K603fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 279946	NM_133433.4(NIPBL):c.1942_1954delinsCTT (p.Thr648fs)	NIPBL (T648fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 3372777	NM_133433.4(NIPBL):c.1961A>G (p.Asn654Ser)	NIPBL (N654S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99924	NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)	NIPBL (E655D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 378274	NM_133433.4(NIPBL):c.1979A>G (p.Glu660Gly)	NIPBL (E660G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 96331	NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)	NIPBL (K662R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1291323	NM_133433.4(NIPBL):c.1986A>C (p.Lys662Asn)	NIPBL (K662N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 167349	NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro)	NIPBL (Q663P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +1 more	GConflicting classifications of pathogenicity
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 1312014	NM_133433.4(NIPBL):c.2054A>G (p.Asp685Gly)	NIPBL (D685G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372400	NM_133433.4(NIPBL):c.2129G>T (p.Arg710Leu)	NIPBL (R710L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303846	NM_133433.4(NIPBL):c.2140C>T (p.Pro714Ser)	NIPBL (P714S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502713	NM_133433.4(NIPBL):c.2214A>T (p.Gln738His)	NIPBL (Q738H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159051	NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)	NIPBL (R765K)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 423537	NM_133433.4(NIPBL):c.2315del (p.Ser772fs)	NIPBL (S772fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3369023	NM_133433.4(NIPBL):c.2329C>A (p.Pro777Thr)	NIPBL (P777T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 159054	NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter)	NIPBL (R808*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 96334	NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)	NIPBL (R816H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 96335	NM_133433.4(NIPBL):c.2469A>G (p.Lys823=)	NIPBL	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 96336	NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)	NIPBL (R827fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1 +1 more	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 450053	NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu)	NIPBL (K862E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2576646	NM_133433.4(NIPBL):c.2650G>C (p.Gly884Arg)	NIPBL (G884R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287408	NM_133433.4(NIPBL):c.2727T>C (p.Gly909=)	NIPBL	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 380347	NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val)	NIPBL (G923V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 159066	NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)	NIPBL (N968S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 159068	NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1309679	NM_133433.4(NIPBL):c.2933T>C (p.Met978Thr)	NIPBL (M978T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96339	NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 159070	NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs)	NIPBL (E1021fs)	Microsatellite (frameshift variant)	Cornelia de Lange syndrome 1 +1 more	GPathogenic

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