ClinVar for Gene (Select 25836) - ClinVar - NCBI

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	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 3377979	NM_133433.4(NIPBL):c.1586G>T (p.Gly529Val)	NIPBL (G529V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377111	NM_133433.4(NIPBL):c.6765G>A (p.Trp2255Ter)	NIPBL (W2255*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3375971	NM_133433.4(NIPBL):c.6301C>T (p.Gln2101Ter)	NIPBL (Q2101*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 3372777	NM_133433.4(NIPBL):c.1961A>G (p.Asn654Ser)	NIPBL (N654S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372768	NM_133433.4(NIPBL):c.7346T>C (p.Ile2449Thr)	NIPBL (I2449T)	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 3371169	NM_133433.4(NIPBL):c.1729C>T (p.Pro577Ser)	NIPBL (P577S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3369750	NM_133433.4(NIPBL):c.3304T>G (p.Ser1102Ala)	NIPBL (S1102A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369282	NM_133433.4(NIPBL):c.3931T>G (p.Cys1311Gly)	NIPBL (C1311G)	Single nucleotide variant (missense variant)	not provided	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 3369023	NM_133433.4(NIPBL):c.2329C>A (p.Pro777Thr)	NIPBL (P777T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368582	NM_133433.4(NIPBL):c.3293A>C (p.Glu1098Ala)	NIPBL (E1098A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367382	NM_133433.4(NIPBL):c.4003A>G (p.Arg1335Gly)	NIPBL (R1335G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365835	NM_133433.4(NIPBL):c.8366T>C (p.Val2789Ala)	NIPBL (V2789A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3364257	NM_133433.4(NIPBL):c.5930A>G (p.Asn1977Ser)	NIPBL (N1977S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364161	NM_133433.4(NIPBL):c.7915G>A (p.Val2639Ile)	NIPBL (V2639I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364105	NM_133433.4(NIPBL):c.3610G>A (p.Ala1204Thr)	NIPBL (A1204T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3356868	NM_133433.4(NIPBL):c.828G>A (p.Gln276=)	NIPBL	Single nucleotide variant (synonymous variant)	NIPBL-related disorder	GLikely benign
Select item 3356683	NM_133433.4(NIPBL):c.1371A>G (p.Gln457=)	NIPBL	Single nucleotide variant (synonymous variant)	NIPBL-related disorder	GLikely benign
Select item 3354150	NM_133433.4(NIPBL):c.5201C>T (p.Thr1734Ile)	NIPBL (T1734I)	Single nucleotide variant (missense variant)	NIPBL-related disorder	GLikely pathogenic
Select item 3353057	NM_133433.4(NIPBL):c.6109-4A>T	NIPBL	Single nucleotide variant (intron variant)	NIPBL-related disorder	GLikely benign
Select item 3350069	NM_133433.4(NIPBL):c.308G>C (p.Ser103Thr)	NIPBL (S103T)	Single nucleotide variant (missense variant)	NIPBL-related disorder	GUncertain significance
Select item 3348458	NM_133433.4(NIPBL):c.4192T>G (p.Ser1398Ala)	NIPBL (S1398A)	Single nucleotide variant (missense variant)	NIPBL-related disorder	GUncertain significance
Select item 3347670	NM_133433.4(NIPBL):c.7291A>C (p.Ile2431Leu)	NIPBL (I2431L)	Single nucleotide variant (missense variant)	NIPBL-related disorder	GUncertain significance
Select item 3347488	NM_133433.4(NIPBL):c.4536T>A (p.Asn1512Lys)	NIPBL (N1512K)	Single nucleotide variant (missense variant)	NIPBL-related disorder	GUncertain significance
Select item 3347364	NM_133433.4(NIPBL):c.2900G>A (p.Gly967Asp)	NIPBL (G967D)	Single nucleotide variant (missense variant)	NIPBL-related disorder	GUncertain significance
Select item 3347209	NM_133433.4(NIPBL):c.8231_8242del (p.Tyr2744_Ser2747del)	NIPBL	Deletion (3 prime UTR variant +1 more)	NIPBL-related disorder	GLikely pathogenic
Select item 3346416	NM_133433.4(NIPBL):c.1492A>G (p.Lys498Glu)	NIPBL (K498E)	Single nucleotide variant (missense variant)	NIPBL-related disorder	GLikely pathogenic
Select item 3346260	NM_133433.4(NIPBL):c.4891C>G (p.Gln1631Glu)	NIPBL (Q1631E)	Single nucleotide variant (missense variant)	NIPBL-related disorder	GUncertain significance
Select item 3345687	NM_133433.4(NIPBL):c.1395del (p.Tyr466fs)	NIPBL (Y466fs)	Deletion (frameshift variant)	NIPBL-related disorder	GLikely pathogenic
Select item 3345005	NM_133433.4(NIPBL):c.5604A>G (p.Val1868=)	NIPBL	Single nucleotide variant (synonymous variant)	NIPBL-related disorder	GLikely benign
Select item 3344959	NM_133433.4(NIPBL):c.460C>T (p.Arg154Trp)	NIPBL (R154W)	Single nucleotide variant (missense variant)	NIPBL-related disorder	GUncertain significance
Select item 3344351	NM_133433.4(NIPBL):c.4952T>A (p.Leu1651Ter)	NIPBL (L1651*)	Single nucleotide variant (nonsense)	NIPBL-related disorder	GLikely pathogenic
Select item 3341056	NM_133433.4(NIPBL):c.1805_1808del (p.Lys602fs)	NIPBL (K602fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3340713	NM_133433.4(NIPBL):c.6206T>A (p.Ile2069Asn)	NIPBL (I2069N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340640	NM_133433.4(NIPBL):c.6954+3A>C	NIPBL	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 3340514	NM_133433.4(NIPBL):c.5684G>C (p.Arg1895Thr)	NIPBL (R1895T)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3339626	NM_133433.4(NIPBL):c.3357G>A (p.Glu1119=)	NIPBL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339603	NM_133433.4(NIPBL):c.3643G>C (p.Asp1215His)	NIPBL (D1215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338941	NM_133433.4(NIPBL):c.7063-13T>C	NIPBL	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 3338537	NM_133433.4(NIPBL):c.359-1513G>A	NIPBL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3337398	NM_133433.4(NIPBL):c.7263+4A>G	NIPBL	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3299810	NM_133433.4(NIPBL):c.3157C>G (p.Pro1053Ala)	NIPBL (P1053A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299809	NM_133433.4(NIPBL):c.1253A>C (p.Gln418Pro)	NIPBL (Q418P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3299808	NM_133433.4(NIPBL):c.3681T>G (p.Ile1227Met)	NIPBL (I1227M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299807	NM_133433.4(NIPBL):c.6752C>A (p.Ala2251Glu)	NIPBL (A2251E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299805	NM_133433.4(NIPBL):c.8095G>T (p.Ala2699Ser)	NIPBL (A2699S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3299804	NM_133433.4(NIPBL):c.8273A>G (p.Lys2758Arg)	NIPBL (K2758R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3299803	NM_133433.4(NIPBL):c.3862G>A (p.Asp1288Asn)	NIPBL (D1288N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3255021	NM_133433.4(NIPBL):c.874A>G (p.Arg292Gly)	NIPBL (R292G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3255020	NM_133433.4(NIPBL):c.5225_5225+6del	NIPBL	Deletion (splice donor variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3254830	NM_133433.4(NIPBL):c.1259T>C (p.Leu420Ser)	NIPBL (L420S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3254583	NM_133433.4(NIPBL):c.8339del (p.Ser2780fs)	NIPBL (S2780fs)	Deletion (3 prime UTR variant +1 more)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3253189	NM_133433.4(NIPBL):c.4524_4534delinsAG (p.Lys1509_Asn1512delinsAsp)	NIPBL	Indel (inframe_indel)	not provided	GUncertain significance
Select item 3251220	NM_133433.4(NIPBL):c.2297G>C (p.Arg766Thr)	NIPBL (R766T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250445	NM_133433.4(NIPBL):c.3296C>A (p.Ala1099Asp)	NIPBL (A1099D)	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 3246417	NC_000005.9:g.(?_36961566)_(37371079_?)dup	CPLANE1, NIPBL +1 more	Duplication	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3246416	NC_000005.9:g.(?_36683946)_(37187964_?)dup	CPLANE1, NIPBL +1 more	Duplication	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3246415	NC_000005.9:g.(?_37063872)_(37108593_?)del	CPLANE1, 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 3235867	NM_133433.4(NIPBL):c.823C>T (p.Pro275Ser)	NIPBL (P275S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235231	NM_133433.4(NIPBL):c.3923C>T (p.Ala1308Val)	NIPBL (A1308V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3233967	NM_133433.4(NIPBL):c.6706A>G (p.Asn2236Asp)	NIPBL (N2236D)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3233715	NM_133433.4(NIPBL):c.7973G>C (p.Ser2658Thr)	NIPBL (S2658T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220904	NM_133433.4(NIPBL):c.4586_4589del (p.Asn1529fs)	NIPBL (N1529fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3200182	NM_133433.4(NIPBL):c.7814A>G (p.Lys2605Arg)	NIPBL (K2605R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3200181	NM_133433.4(NIPBL):c.7792C>T (p.Arg2598Trp)	NIPBL (R2598W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200180	NM_133433.4(NIPBL):c.7592C>T (p.Ala2531Val)	NIPBL (A2531V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3200178	NM_133433.4(NIPBL):c.7276A>T (p.Thr2426Ser)	NIPBL (T2426S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200177	NM_133433.4(NIPBL):c.6976A>G (p.Met2326Val)	NIPBL (M2326V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200176	NM_133433.4(NIPBL):c.5239A>G (p.Thr1747Ala)	NIPBL (T1747A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200174	NM_133433.4(NIPBL):c.3434G>A (p.Arg1145His)	NIPBL (R1145H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3200173	NM_133433.4(NIPBL):c.3358C>A (p.Arg1120Ser)	NIPBL (R1120S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200172	NM_133433.4(NIPBL):c.2852G>A (p.Gly951Asp)	NIPBL (G951D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200170	NM_133433.4(NIPBL):c.1952T>C (p.Leu651Pro)	NIPBL (L651P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3200169	NM_133433.4(NIPBL):c.1793A>C (p.Glu598Ala)	NIPBL (E598A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075718	NM_133433.4(NIPBL):c.4269dup (p.Val1424fs)	NIPBL (V1424fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3068818	NM_133433.4(NIPBL):c.5329-17del	NIPBL	Deletion (intron variant)	not specified	GLikely benign
Select item 3068817	NM_133433.4(NIPBL):c.3547dup (p.Ala1183fs)	NIPBL (A1183fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3067774	NM_133433.4(NIPBL):c.3962C>G (p.Pro1321Arg)	NIPBL (P1321R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067555	NM_133433.4(NIPBL):c.7427A>G (p.Lys2476Arg)	NIPBL (K2476R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3066295	NM_133433.4(NIPBL):c.7050_7052del (p.Gly2351del)	NIPBL (G2351del)	Deletion (inframe deletion)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3065997	NM_133433.4(NIPBL):c.7375G>C (p.Val2459Leu)	NIPBL (V2459L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
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 3063661	NM_133433.4(NIPBL):c.6589+8dup	NIPBL	Duplication (intron variant)	not specified	GUncertain significance
Select item 3062871	GRCh37/hg19 5p13.2(chr5:37027159-37673405)x3	CPLANE1, NIPBL +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062829	GRCh37/hg19 5p13.2(chr5:36799352-37123083)x3	CPLANE1, NIPBL	Copy number gain	not specified	GPathogenic
Select item 3061896	NM_133433.4(NIPBL):c.6694C>G (p.Gln2232Glu)	NIPBL (Q2232E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance

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