Related gene-specific medical variations for Gene (Select 25836) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382603	NM_133433.4(NIPBL):c.7841dup (p.Val2615fs)	NIPBL (V2615fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3382476	NM_133433.4(NIPBL):c.868G>C (p.Gly290Arg)	NIPBL (G290R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3382347	NM_133433.4(NIPBL):c.5795dup (p.Asn1932fs)	NIPBL (N1932fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3362199	NM_133433.4(NIPBL):c.2060A>C (p.Lys687Thr)	NIPBL (K687T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360896	NM_133433.4(NIPBL):c.8369_8390dup (p.Ala2798fs)	NIPBL (A2798fs)	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3360077	NM_133433.4(NIPBL):c.2159G>A (p.Gly720Glu)	NIPBL (G720E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358922	NM_133433.4(NIPBL):c.1036G>T (p.Asp346Tyr)	NIPBL (D346Y)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3246419	NC_000005.9:g.(?_36992705)_(37000570_?)del	NIPBL	Deletion	Cornelia de Lange syndrome 1	GPathogenic
Select item 3235949	NM_133433.4(NIPBL):c.6763+1_6763+2del	NIPBL	Deletion (splice donor variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3235919	NM_133433.4(NIPBL):c.6440T>G (p.Val2147Gly)	NIPBL (V2147G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3065381	NM_133433.4(NIPBL):c.1708_1709del (p.Ile570fs)	NIPBL (I570fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 2689585	NM_133433.4(NIPBL):c.1832G>A (p.Ser611Asn)	NIPBL (S611N)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2637909	NM_133433.4:c.1480_2479del	NIPBL	Deletion	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 2627768	NM_133433.4(NIPBL):c.4508A>G (p.His1503Arg)	NIPBL (H1503R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2627765	NM_133433.4(NIPBL):c.314A>G (p.Asn105Ser)	NIPBL (N105S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2582599	NM_133433.4(NIPBL):c.4570delinsTA (p.Asp1524Ter)	NIPBL (D1524*)	Indel (nonsense)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 2576093	NM_133433.4(NIPBL):c.359-1085A>G	NIPBL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2441887	NM_133433.4(NIPBL):c.812C>T (p.Pro271Leu)	NIPBL (P271L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2441790	NM_133433.4(NIPBL):c.2093del (p.Lys697_Ser698insTer)	NIPBL	Deletion (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 2434364	NM_133433.4(NIPBL):c.5182A>G (p.Arg1728Gly)	NIPBL (R1728G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2434362	NM_133433.4(NIPBL):c.2278C>T (p.His760Tyr)	NIPBL (H760Y)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2434361	NM_133433.4(NIPBL):c.1434G>A (p.Glu478=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2434360	NM_133433.4(NIPBL):c.3392G>C (p.Ser1131Thr)	NIPBL (S1131T)	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 2432227	NM_133433.4(NIPBL):c.6344-1G>A	NIPBL	Single nucleotide variant (splice acceptor variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 1807805	GRCh37/hg19 5p13.2(chr5:36874777-36958323)x1	NIPBL	Copy number loss	not provided	GLikely pathogenic
Select item 1701620	NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr)	NIPBL (I410T)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 1527155	GRCh37/hg19 5p13.2(chr5:36902395-36963396)	NIPBL	Copy number loss	not specified	GPathogenic
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 1342437	NM_133433.4(NIPBL):c.5115T>C (p.His1705=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 1319757	NM_133433.4(NIPBL):c.4643+1_4643+10del	NIPBL	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1224411	NM_133433.4(NIPBL):c.1144A>G (p.Asn382Asp)	NIPBL (N382D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224376	NM_133433.4(NIPBL):c.3402_3403del (p.Ser1134_His1135insTer)	NIPBL	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1184423	NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro)	NIPBL (Q749P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 1183995	NM_133433.4(NIPBL):c.8374_8375del (p.Leu2792fs)	NIPBL (L2792fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 994655	NM_133433.4(NIPBL):c.2841_2843del (p.Gly948del)	NIPBL (G948del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 987103	NM_133433.4(NIPBL):c.3222_3223insT (p.Lys1075Ter)	NIPBL (K1075*)	Insertion (nonsense)	not provided	GPathogenic
Select item 978555	NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu)	NIPBL (P351L)	Single nucleotide variant (missense variant)	Vesicoureteral reflux +4 more	GLikely pathogenic
Select item 978121	NM_133433.4(NIPBL):c.479C>T (p.Thr160Ile)	NIPBL (T160I)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 977340	NM_133433.4(NIPBL):c.6577A>G (p.Ile2193Val)	NIPBL (I2193V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 975302	NM_133433.4(NIPBL):c.7517G>A (p.Arg2506His)	NIPBL (R2506H)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975301	NM_133433.4(NIPBL):c.658G>C (p.Asp220His)	NIPBL (D220H)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 932014	NM_133433.4(NIPBL):c.3534_3535del (p.Lys1179fs)	NIPBL (K1179fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 931681	NM_133433.4(NIPBL):c.5641A>G (p.Thr1881Ala)	NIPBL (T1881A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 931572	NM_133433.4(NIPBL):c.1849G>C (p.Glu617Gln)	NIPBL (E617Q)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 931097	NM_133433.4(NIPBL):c.2126_2128delinsCTCTCAA (p.Ser709fs)	NIPBL (S709fs)	Indel (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 930537	NM_133433.4(NIPBL):c.3668A>G (p.Asp1223Gly)	NIPBL (D1223G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
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 591187	NM_133433.4(NIPBL):c.7379C>G (p.Ser2460Cys)	NIPBL (S2460C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591098	NM_133433.4(NIPBL):c.6498+4_6498+9del	NIPBL	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 545662	NM_133433.3(NIPBL):c.3856-?_4239+?del	NIPBL	Deletion	Cornelia de Lange syndrome 1	GUncertain significance
Select item 446431	NM_133433.4(NIPBL):c.868G>A (p.Gly290Ser)	NIPBL (G290S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 443203	GRCh37/hg19 5p13.2(chr5:36916860-36960224)x1	NIPBL	Copy number loss	See cases	GPathogenic
Select item 441862	GRCh37/hg19 5p13.2(chr5:36916860-36960223)x1	NIPBL	Copy number loss	See cases	GPathogenic
Select item 221443	GRCh37/hg19 5p13.2(chr5:37000955-37014827)x4	NIPBL	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 133307	NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg)	NIPBL (M1793R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2149	NIPBL, IVS44DS, A-G, +4	NIPBL	Single nucleotide variant	Cornelia de Lange syndrome 1	GPathogenic

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Links from Gene

Items: 57