Full data view for gene NIPBL

Information The variants shown are described using the NM_133433.3 transcript reference sequence.

475 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_47_ c.(?_-481)_(*927_?)del r.(?) p.0? - Unknown - pathogenic g.? - - - NIPBL_000262 - - - - De novo - - - 0 - DNA MLPA - - CDLS - - - M - Portugal - - 0 - - 1 Joao Silva
+/. 1 c.-316_-315delinsA r.-316_-315delinsa p.(?) - Unknown - pathogenic g.36877044_36877045delinsA g.36876942_36876943delinsA -321_-320delCCinsA - NIPBL_000093 mRNA expression reduced (14%); father affected; de novo, in father PubMed: Borck 2004; PubMed: Borck 2006 - - Germline - - - 0 - RNA, DNA PCR, RT-PCR, SEQ - - CDLS Case 8; Patient1 PubMed: Borck 2004; PubMed: Borck 2006 - F - France Algerian - 0 - - 1 Cristina Dias
+/. 1 c.-316_-315delinsA r.-316_-315delinsa p.(?) - Unknown - pathogenic g.36877044_36877045delinsA g.36876942_36876943delinsA -321_-320delCCinsA - NIPBL_000093 mRNA expression reduced (16%); daughter affected PubMed: Borck 2006 - - De novo - - - 0 - RNA, DNA PCR, RT-PCR, SEQ - - CDLS patient2 PubMed: Borck 2006 - M - Algeria - - 0 - - 1 Cristina Dias
+/. 1 c.-94C>T r.(?) p.(?) - Unknown - pathogenic g.36877266C>T g.36877164C>T - - NIPBL_000159 creates a new ATG site? PubMed: Selicorni 2007 - - Germline/De novo (untested) - - - 0 - DNA DHPLC, SEQ - - CDLS P43 PubMed: Selicorni 2007 - F - Italy - - 0 - - 1 Cristina Dias
+/. 1i c.-79-2A>G r.spl p.? - Unknown - pathogenic g.36953718A>G g.36953616A>G 1-81A>G - NIPBL_000148 - PubMed: Selicorni 2007 - - Germline/De novo (untested) - - - 0 - DNA DHPLC, SEQ - - CDLS P49 PubMed: Selicorni 2007 - F - Italy - - 0 - - 1 Cristina Dias
+/. 10 c.(3071C>?) r.(?) p.(Ser1024*) - Unknown - pathogenic g.? - S1024X - NIPBL_000063 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - 0 - DNA CSGE, SEQ - - CDLS - PubMed: Gillis 2004 - - - - - - 0 - - 1 Cristina Dias
+/. 18 c.(4193C>?) r.(?) p.(Ser1398*) - Unknown - pathogenic g.? - S1398X - NIPBL_000067 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - 0 - DNA CSGE, SEQ - - CDLS - PubMed: Gillis 2004 - F - - - - 0 - - 1 Cristina Dias
+/. 30i_47_ c.(5710-?)_(*927_?)del r.(?) p.(?) - Unknown - pathogenic g.? - - - NIPBL_000261 - - - - Germline - - - 0 - DNA MLPA - - CDLS - - - M - Portugal - >8y 0 - - 1 Joao Silva
+/. 31 c.5721_5725de r.(?) p.(Glu1908Ilefs*13) - Unknown - pathogenic g.? - g.5721_5725delTGAAA - NIPBL_000083 - PubMed: Kaur 2005 - - Germline - - - 0 - DNA SEQ - - CDLS - PubMed: Kaur 2005 - M - - - - 0 - - 1 Cristina Dias
+/. 2 c.2T>A r.(?) p.(Met1?) - Unknown - pathogenic g.36953800T>A g.36953698T>A 2G-A (M1K) - NIPBL_000034 - PubMed: Krantz 2004; PubMed: Gillis 2004 - - De novo - - - 0 - DNA CSGE, SEQ - - CDLS Family II PubMed: Krantz 2004; PubMed: Gillis 2004 half-siblings affected M - - - - 0 - - 1 Cristina Dias
+/. 2 c.2T>A r.(?) p.(Met1?) - Unknown - pathogenic g.36953800T>A g.36953698T>A 2G-A (M1K) - NIPBL_000034 - PubMed: Krantz 2004; PubMed: Gillis 2004 - - De novo - - - 0 - DNA CSGE, SEQ - - CDLS Family II PubMed: Krantz 2004; PubMed: Gillis 2004 half-siblings affected F - - - - 0 - - 1 Cristina Dias
+/. 2 c.2T>A r.(?) p.(Met1?) - Unknown - pathogenic g.36953800T>A g.36953698T>A 2G-A (M1K) - NIPBL_000034 - PubMed: Krantz 2004; PubMed: Gillis 2004 - - De novo - - - 0 - DNA CSGE, SEQ - - CDLS Family II PubMed: Krantz 2004; PubMed: Gillis 2004 half-siblings affected M - - - - 0 - - 1 Cristina Dias
+/. - c.3G>T r.(?) p.(Met1?) - Parent #1 - pathogenic g.36953801G>T g.36953699G>T - - NIPBL_000366 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783937 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. 2 c.13_14dup r.(?) p.(Met5Ilefs*20) - Unknown - pathogenic g.36953811_36953812dup g.36953709_36953710dup 13_14dupAT - NIPBL_000247 - PubMed: Kline 2007 - - Germline - - - 0 - DNA SEQ - - CDLS - PubMed: Kline 2007 - F - - - - 0 - - 1 Jorge Oliveira
+/. 2 c.43G>A r.(?) p.(Gly15Arg) - Unknown - pathogenic g.36953841G>A g.36953739G>A - - NIPBL_000229 - ESHG2010 Braunholz P11.015 - - Germline - - - 0 - DNA SEQ - - CDLS - ESHG2010 Braunholz P11.015 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 2 c.43G>A r.(?) p.Gly15Arg - Unknown - NA g.36953841G>A g.36953739G>A - - NIPBL_000229 yeast two-hybrid analysis: abolishes NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i c.64+1G>A r.spl p.? - Unknown - pathogenic g.36953863G>A g.36953761G>A - - NIPBL_000094 - PubMed: Borck 2004 - - De novo - - - 0 - DNA SEQ - - CDLS P6 PubMed: Borck 2004 - M - France western european - 0 - - 1 Cristina Dias
+/. 2i c.64+1G>A r.spl p.? - Unknown - pathogenic g.36953863G>A g.36953761G>A - - NIPBL_000094 - - - - De novo - - - 0 - DNA SEQ - - CDLS - - - M - Portugal white >4y 0 - - 1 Joao Silva
+/. 2i c.64+5G>A r.spl? p.? - Unknown - pathogenic g.36953867G>A g.36953765G>A - - NIPBL_000107 - PubMed: Borck 2007 - - Germline - - - 0 - DNA SEQ - - CDLS patient PubMed: Borck 2007 - - - - - - 0 - - 1 Cristina Dias
+/. 2i c.65-5A>G r.spl? p.? - Unknown - pathogenic g.36955569A>G g.36955467A>G - - NIPBL_000008 New acceptor splice site (bioinformatic prediction) - - - De novo - - - 0 - DNA SEQ - - CDLS - - - M - Portugal white - 0 - - 1 Cristina Dias
+/. 2i c.65-5A>G r.spl? p.? - Unknown - pathogenic g.36955569A>G g.36955467A>G - - NIPBL_000008 New acceptor splice site (bioinformatic prediction) PubMed: Gillis 2004 - - De novo - - - 0 - DNA CSGE, SEQ - - CDLS patient PubMed: Gillis 2004 - - - - - - 0 - - 1 Cristina Dias
+/. 2i c.65-5A>G r.spl? p.? - Unknown - pathogenic g.36955569A>G g.36955467A>G - - NIPBL_000008 New acceptor splice site (bioinformatic prediction) PubMed: Borck 2007 - - Germline - - - 0 - DNA SEQ - - CDLS patient PubMed: Borck 2007 - - - - - - 0 - - 1 Cristina Dias
+/. 2i c.65-5A>G r.spl? p.(Leu22Hisfs*23) - Unknown - pathogenic g.36955569A>G g.36955467A>G - - NIPBL_000008 New acceptor splice site (bioinformatic prediction) PubMed: Selicorni 2007 - - Germline/De novo (untested) - - - 0 - DNA, RNA DHPLC, RT-PCR, SEQ - - CDLS P18 PubMed: Selicorni 2007 - M - Italy - - 0 - - 1 Cristina Dias
+/. 2i c.65-5A>G r.spl? p.? - Unknown - pathogenic g.36955569A>G g.36955467A>G - - NIPBL_000008 - Redeker (unpublished) - - De novo - - - 0 - DNA DHPLC - - CDLS - Redeker (unpublished) - M - Netherlands - - 0 - - 1 Bert Redeker
+/. 3 c.70_79del r.70_79delAACCAGCTG p.(Asn24_Leu26del) - Unknown - pathogenic g.36955579_36955588del g.36955477_36955486del 70_79delAACCAGCTG - NIPBL_000146 - PubMed: Selicorni 2007 - - Germline/De novo (untested) - - - 0 - DNA, RNA DHPLC, RT-PCR, SEQ - - CDLS P17 PubMed: Selicorni 2007 - M - Italy - - 0 - - 1 Cristina Dias
+/. 3 c.86C>A r.(?) p.(Pro29Gln) - Unknown - pathogenic g.36955595C>A g.36955493C>A - - NIPBL_000123 not in 150 controls; highly conserved aminoacid (rat, mouse, and Drosophila) PubMed: Bhuiyan 2006 - - De novo - - - 0 - DNA DHPLC, SEQ - - CDLS patient PubMed: Bhuiyan 2006 - - - Netherlands - - 0 - - 1 Cristina Dias
+/. 3 c.86C>A r.(?) p.(Pro29Gln) - Unknown - pathogenic g.36955595C>A g.36955493C>A - - NIPBL_000123 - ESHG2010 Braunholz P11.015 - - Germline - - - 0 - DNA SEQ - - CDLS - ESHG2010 Braunholz P11.015 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 3 c.86C>A r.(?) p.Pro29Gln - Unknown - NA g.36955595C>A g.36955493C>A - - NIPBL_000123 yeast two-hybrid analysis: abolishes NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.86del r.(?) p.(Pro29Hisfs*18) - Unknown - pathogenic g.36955595del g.36955493del - - NIPBL_000263 - - - - Germline - - - 0 - DNA SEQ - - CDLS - - - M - Portugal - - 0 - - 1 Joao Silva
+/. 3 c.95del r.(?) p.(Leu32Tyrfs*15) - Unknown - pathogenic g.36955604del g.36955502del 95delT - NIPBL_000095 - PubMed: Borck 2004 - - De novo - - - 0 - DNA SEQ - - CDLS P7 PubMed: Borck 2004 - F - France western european - 0 - - 1 Cristina Dias
+/. 3 c.133C>T r.(?) p.(Arg45*) - Unknown - pathogenic g.36955642C>T g.36955540C>T - - NIPBL_000181 - Redeker; PubMed: Oliveira 2010 - - Germline - - - 0 - DNA DHPLC - - CDLS - Redeker; PubMed: Oliveira 2010 - M - Denmark - - 0 - - 1 Bert Redeker
+/. 3 c.150del r.(?) p.(Asn51Thrfs*27) - Unknown - pathogenic g.36955659del g.36955557del 150delG - NIPBL_000035 - PubMed: Krantz 2004; PubMed: Gillis 2004 - - De novo - - - 0 - DNA CSGE, SEQ - - CDLS - PubMed: Krantz 2004; PubMed: Gillis 2004 - M - - - - 0 - - 1 Cristina Dias
-?/. - c.179A>G r.(?) p.(Asn60Ser) - Unknown - likely benign g.36955688A>G g.36955586A>G NIPBL(NM_015384.4):c.179A>G (p.N60S) - NIPBL_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.190C>T r.(?) p.(Gln64*) - Unknown - likely pathogenic g.36955699C>T g.36955597C>T - - NIPBL_000265 - - - - Germline - - - 0 - DNA PCR, SEQ - - CDLS - - - M - - - - 0 - - 1 Gemma Poke
+/. 3 c.199_208delinsATCAACAGGTGAC r.(?) p.(His67Ilefs*4) - Unknown - pathogenic g.36955708_36955717delinsATCAACAGGTGAC g.36955606_36955615delinsATCAACAGGTGAC 199del10; 199ins13 - NIPBL_000048 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - 0 - DNA CSGE, SEQ - - CDLS patient PubMed: Gillis 2004 - - - - - - 0 - - 1 Cristina Dias
-?/. 3 c.218C>T r.(?) p.(Ser72Leu) - Maternal (confirmed) - likely benign g.36955727C>T g.36955625C>T - - NIPBL_000250 not pathogenic, inherited from unaffected mother; not in 100 control chromosomes PubMed: Park, 2010 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - CDLS patient 3 PubMed: Park, 2010 - F - Korea - >10y 0 - - 1 Cristina Dias
+/. 3i c.230+1G>A r.65_230del p.(Leu22Glnfs*3) - Unknown - pathogenic g.36955740G>A g.36955638G>A - - NIPBL_000223 - PubMed: Pié 2010 - - De novo - - - 0 - RNA, DNA RT-PCR, SEQ - - CDLS C10 PubMed: Pié 2010 - M - Spain - - 0 - - 1 Cristina Dias
-/. 3i c.230+61C>A r.(?) p.(=) - Unknown - benign g.36955800C>A g.36955698C>A - - NIPBL_000165 - PubMed: Gillis 2004 - - Germline - - - 0 - DNA CSCE, SEQ - - - - PubMed: Gillis 2004 - - - - - - 0 - - 1 Cristina Dias
+?/. 3i_4i c.(230+1_231-1)_(358+1_359-1)del r.? p.? - Unknown - likely pathogenic g.(?_36958206)_(36958333_?)del - chr5:36958206-?_36958333+?del - NIPBL_000399 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-2564 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. 4 c.256G>A r.(?) p.(Asp86Asn) - Unknown - likely benign g.36958231G>A g.36958129G>A - - NIPBL_000244 - Redeker (unpublished) - - Germline - - - 0 - DNA SEQ - - CDLS - Redeker (unpublished) - M - Australia - - 0 - - 1 Bert Redeker
?/. 4 c.256G>A r.(?) p.(Asp86Asn) - Unknown - VUS g.36958231G>A g.36958129G>A - - NIPBL_000244 - PubMed: Ganapathy 2019 - rs1188531884 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5934 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.294C>T r.(?) p.(Ala98=) - Unknown - likely benign g.36958269C>T g.36958167C>T NIPBL(NM_015384.4):c.294C>T (p.A98=) - NIPBL_000356 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313A>G r.(?) p.(Asn105Asp) - Unknown - VUS g.36958288A>G g.36958186A>G NIPBL(NM_015384.5):c.313A>G (p.N105D) - NIPBL_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.332G>C r.(?) p.(Ser111Thr) - Unknown - pathogenic g.36958307G>C g.36958205G>C - - NIPBL_000230 - ESHG2010 Braunholz P11.015 - - Germline - - - 0 - DNA SEQ - - CDLS - ESHG2010 Braunholz P11.015 - - - Germany - - 0 - - 1 Johan den Dunnen
-?/. 4 c.332G>C r.(?) p.Ser111Thr - Unknown - NA g.36958307G>C g.36958205G>C - - NIPBL_000230 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.347dup r.(?) p.(Tyr116*) - Unknown - pathogenic g.36958322dup g.36958220dup 347dupA - NIPBL_000040 - PubMed: Tonkin 2004 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - CDLS P29 PubMed: Tonkin 2004 - - - - - - 0 - - 1 Cristina Dias
+?/. 4i c.358+1G>A r.231_358del p.(Ile77Metfs*5) - Unknown - likely pathogenic g.36958334G>A g.36958232G>A - - NIPBL_000290 - PubMed: Teresa-Rodrigo 2014 - - Germline - - - 0 - RNA, DNA RT-PCR - - CDLS P1 PubMed: Teresa-Rodrigo 2014 - M - - - >2y 0 - - 1 Cristina Dias
+?/. 4i c.358+1G>A r.231_358del p.(Ile77Metfs*5) - Unknown - likely pathogenic g.36958334G>A g.36958232G>A - - NIPBL_000290 - PubMed: Teresa-Rodrigo 2014 - - Germline - - - 0 - RNA, DNA RT-PCR - - CDLS P2 PubMed: Teresa-Rodrigo 2014 - M - - - >13y 0 - - 1 Cristina Dias
+?/. 4i c.358+3G>T r.spl? p.? - Unknown - likely pathogenic g.36958336G>T g.36958234G>T - - NIPBL_000203 - Redeker; PubMed: Oliveira 2010 - - Germline - - - 0 - DNA DHPLC - - CDLS - Redeker; PubMed: Oliveira 2010 - F - Belgium - - 0 - - 1 Bert Redeker
+?/. - c.358+5G>C r.spl? p.? - Parent #1 - likely pathogenic g.36958338G>C g.36958236G>C - - NIPBL_000367 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783928 Germline - 1/2790 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. 5i c.(415_416insTTAT) r.(?) p.(Ser139Phefs*13) - Unknown - pathogenic g.36961642_36961643insTTAT g.36961540_36961541insTTAT 416insTTAT; p.S139FfsX11 - NIPBL_000112 - PubMed: Yan 2006 - - De novo - - - 0 - DNA SEQ - - CDLS patient PubMed: Yan 2006 - - - Poland - - 0 - - 1 Cristina Dias
+/. - c.430C>T r.(?) p.(Gln144Ter) - Unknown - pathogenic g.36961657C>T g.36961555C>T - - NIPBL_000357 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5i c.459-9G>A r.spl? p.(=) - Unknown - likely pathogenic g.36962216G>A g.36962114G>A - - NIPBL_000256 mosaicism; activation of cryptic acceptor splice site (bioinformatic prediction) Redeker (unpublished) - - De novo - - - 0 - DNA SEQ - - CDLS - Redeker (unpublished) - F - Belgium - - 0 - - 1 Bert Redeker
+/. 6 c.460del r.(?) p.(Arg154Glyfs*62) - Unknown - pathogenic g.36962226del g.36962124del 460delC - NIPBL_000150 - PubMed: Selicorni 2007 - - Germline/De novo (untested) - - - 0 - DNA DHPLC, SEQ - - CDLS P38 PubMed: Selicorni 2007 - M - Italy - - 0 - - 1 Cristina Dias
?/. - c.507G>T r.(?) p.(Gln169His) - Unknown - VUS g.36962273G>T g.36962171G>T NIPBL(NM_015384.4):c.507G>T (p.(Gln169His), p.Q169H) - NIPBL_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.507G>T r.(?) p.(Gln169His) - Unknown - VUS g.36962273G>T - NIPBL(NM_015384.4):c.507G>T (p.(Gln169His), p.Q169H) - NIPBL_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.513dup r.(?) p.(Ser172*) - Unknown - pathogenic g.36962279dup g.36962177dup 513dupT - NIPBL_000162 - PubMed: Bhuiyan 2006b - - Germline - - - 0 - DNA DHPLC, SEQ - - CDLS patient PubMed: Bhuiyan 2006b - M - Malaysia Asian - 0 - - 1 Cristina Dias
+/. 6 c.513dup r.(?) p.(Ser172*) - Unknown - pathogenic g.36962279dup g.36962177dup 513dupT - NIPBL_000162 - Redeker (unpublished) - - Germline - - - 0 - DNA DHPLC - - CDLS - Redeker (unpublished) - M - Malaysia - - 0 - - 1 Bert Redeker
+/. 6 c.535G>A r.(?) p.(Ala179Thr) - Unknown - pathogenic g.36962301G>A g.36962199G>A - - NIPBL_000231 - ESHG2010 Braunholz P11.015 - - Germline - - - 0 - DNA SEQ - - CDLS - ESHG2010 Braunholz P11.015 - - - Germany - - 0 - - 1 Johan den Dunnen
-?/. 6 c.535G>A r.(?) p.Ala179Thr - Unknown - NA g.36962301G>A g.36962199G>A - - NIPBL_000231 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.535G>A r.(?) p.(Ala179Thr) - Unknown - likely benign g.36962301G>A g.36962199G>A NIPBL(NM_015384.4):c.535G>A (p.A179T, p.(Ala179Thr)) - NIPBL_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.535G>A r.(?) p.(Ala179Thr) - Unknown - likely benign g.36962301G>A - NIPBL(NM_015384.4):c.535G>A (p.A179T, p.(Ala179Thr)) - NIPBL_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.575C>T r.(?) p.(Pro192Leu) - Unknown - pathogenic g.36962341C>T g.36962239C>T - - NIPBL_000232 - ESHG2010 Braunholz P11.015 - - Germline - - - 0 - DNA SEQ - - CDLS - ESHG2010 Braunholz P11.015 - - - Germany - - 0 - - 1 Johan den Dunnen
?/. 6 c.575C>T r.(?) p.Pro192Leu - Unknown - NA g.36962341C>T g.36962239C>T - - NIPBL_000232 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.598C>T r.(?) p.(Gln200*) - Parent #1 - pathogenic g.36962364C>T g.36962262C>T - - NIPBL_000368 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783988 Germline - 5/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
+/. - c.610+1G>A r.spl? p.? - Parent #1 - pathogenic g.36962377G>A g.36962275G>A - - NIPBL_000369 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783993 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. 6i c.610+5G>C r.spl? p.? - Unknown - pathogenic g.36962381G>C g.36962279G>C - - NIPBL_000124 - PubMed: Bhuiyan 2006 - - De novo - - - 0 - DNA DHPLC, SEQ - - CDLS patient PubMed: Bhuiyan 2006 - - - Netherlands - - 0 - - 1 Cristina Dias
+/. 6i c.611-6T>C r.spl? p.(=) - Unknown - pathogenic g.36970972T>C g.36970870T>C - - NIPBL_000125 - PubMed: Bhuiyan 2006 - - De novo - - - 0 - DNA DHPLC, SEQ - - CDLS patient PubMed: Bhuiyan 2006 - - - Netherlands - - 0 - - 1 Cristina Dias
+/. 6i c.611-6T>C r.spl? p.(=) - Unknown - pathogenic g.36970972T>C g.36970870T>C - - NIPBL_000126 - PubMed: Bhuiyan 2006 - - De novo - - - 0 - DNA DHPLC, SEQ - - CDLS patient PubMed: Bhuiyan 2006 - - - Netherlands - - 0 - - 1 Cristina Dias
+/. 6i c.611-2A>G r.spl p.? - Unknown - pathogenic g.36970976A>G g.36970874A>G - - NIPBL_000049 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - 0 - DNA CSGE, SEQ - - CDLS patient PubMed: Gillis 2004 - F - - - - 0 - - 1 Cristina Dias
+/. 6i c.611-2A>G r.spl p.? - Unknown - pathogenic g.36970976A>G g.36970874A>G - - NIPBL_000049 - PubMed: Kline 2007 - - Germline - - - 0 - DNA CSGE, SEQ - - CDLS - PubMed: Kline 2007 - F - - - - 0 - - 1 Jorge Oliveira
+/. 7 c.737A>G r.(?) p.(Asp246Gly) - Unknown - pathogenic g.36971104A>G g.36971002A>G - - NIPBL_000113 Aminoacid conserved in all species except Danio rerio PubMed: Yan 2006 - - De novo - - - 0 - DNA SEQ - - CDLS patient PubMed: Yan 2006 - - - Poland - - 0 - - 1 Cristina Dias
+/. 7 c.737A>G r.(?) p.(Asp246Gly) - Unknown - pathogenic g.36971104A>G g.36971002A>G - - NIPBL_000113 - ESHG2010 Braunholz P11.015 - - Germline - - - 0 - DNA SEQ - - CDLS - ESHG2010 Braunholz P11.015 - - - Germany - - 0 - - 1 Johan den Dunnen
-?/. 7 c.737A>G r.(?) p.Asp246Gly - Unknown - NA g.36971104A>G g.36971002A>G - - NIPBL_000113 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.742_743del r.(?) p.(Leu248Thrfs*8) - Unknown - pathogenic g.36971109_36971110del g.36971007_36971008del 742delCT - NIPBL_000050 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - 0 - DNA CSGE, SEQ - - CDLS patient PubMed: Gillis 2004 - - - - - - 0 - - 1 Cristina Dias
+/. 7 c.760C>G r.(?) p.(Leu254Val) - Unknown - pathogenic g.36971127C>G g.36971025C>G - - NIPBL_000233 - ESHG2010 Braunholz P11.015 - - Germline - - - 0 - DNA SEQ - - CDLS - ESHG2010 Braunholz P11.015 - - - Germany - - 0 - - 1 Johan den Dunnen
-?/. 7 c.760C>G r.(?) p.Leu254Val - Unknown - NA g.36971127C>G g.36971025C>G - - NIPBL_000233 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7i c.771+1G>C r.(751_771del) p.(Val251_Asp257del) 0.000 Unknown - pathogenic g.36971139G>C g.36971037G>C - - NIPBL_000302 - - - - De novo yes - - 0 - DNA SEQ-NG-I blood - ID P12 - - M no China - >14y - - - 1 Wenjuan Qiu
+/. 8 c.781T>G r.(?) p.(Ser262Ala) - Unknown - pathogenic g.36972056T>G g.36971954T>G - - NIPBL_000234 - ESHG2010 Braunholz P11.015 - rs16903425 Germline - - - 0 - DNA SEQ - - CDLS - ESHG2010 Braunholz P11.015 - - - Germany - - 0 - - 1 Johan den Dunnen
-?/. 8 c.781T>G r.(?) p.Ser262Ala - Unknown - NA g.36972056T>G g.36971954T>G - - NIPBL_000234 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.781T>G r.(?) p.(Ser261Ala) - Unknown - likely benign g.36972056T>G - NIPBL(NM_015384.4):c.781T>G (p.(Ser261Ala)) - NIPBL_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.784T>C r.(?) p.(Ser262Pro) - Unknown - VUS g.36972059T>C g.36971957T>C NIPBL(NM_015384.5):c.784T>C (p.S262P) - NIPBL_000358 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.802G>A r.(?) p.(Ala268Thr) - Unknown - VUS g.36972077G>A g.36971975G>A NIPBL(NM_015384.4):c.802G>A (p.A268T) - NIPBL_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.826C>T r.(?) p.(Gln276*) - Unknown - pathogenic g.36972101C>T g.36971999C>T - - NIPBL_000183 - Redeker; PubMed: Oliveira 2010 - - De novo - - - 0 - DNA DHPLC - - CDLS - Redeker; PubMed: Oliveira 2010 - F - Netherlands - - 0 - - 1 Bert Redeker
-?/. - c.834A>G r.(?) p.(Val278=) - Unknown - likely benign g.36972109A>G g.36972007A>G NIPBL(NM_015384.4):c.834A>G (p.V278=) - NIPBL_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.839C>T r.(?) p.(Ser280Phe) - Unknown - likely benign g.36972114C>T g.36972012C>T - - NIPBL_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8i c.868+1G>A r.spl p.? - Unknown - pathogenic g.36972144G>A g.36972042G>A - - NIPBL_000241 - Redeker (unpublished) - - Germline - - - 0 - DNA SEQ - - CDLS - Redeker (unpublished) - F - Netherlands - - 0 - - 1 Bert Redeker
+?/. 8i c.869-2A>G r.869_1495del p.(Gly290_Lys498del) - Unknown - likely pathogenic g.36975876A>G g.36975774A>G - - NIPBL_000291 - PubMed: Teresa-Rodrigo 2014 - - Germline - - - 0 - RNA, DNA RT-PCR - - CDLS P3A PubMed: Teresa-Rodrigo 2014 - - - - - - 0 - - 1 Cristina Dias
+?/. 8i c.869-2A>G r.869_1495del p.(Gly290_Lys498del) - Unknown - likely pathogenic g.36975876A>G g.36975774A>G - - NIPBL_000291 - PubMed: Teresa-Rodrigo 2014 - - Germline - - - 0 - RNA, DNA RT-PCR - - CDLS P3B PubMed: Teresa-Rodrigo 2014 - F - - - - 0 - - 1 Cristina Dias
+/. 9 c.889dup r.(?) p.(Leu297Profs*39) - Unknown - pathogenic g.36975898dup g.36975796dup 889dupC - NIPBL_000209 - Redeker; PubMed: Oliveira 2010 - - De novo - - - 0 - DNA DHPLC - - CDLS - Redeker; PubMed: Oliveira 2010 - M - Netherlands - - 0 - - 1 Bert Redeker
?/. - c.940A>G r.(?) p.(Ile314Val) - Unknown - VUS g.36975949A>G g.36975847A>G NIPBL(NM_015384.4):c.940A>G (p.(Ile314Val)) - NIPBL_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.961del r.(?) p.(Arg321Glufs*9) - Unknown - pathogenic g.36975970del g.36975868del 961delA - NIPBL_000051 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - 0 - DNA CSGE, SEQ - - CDLS patient PubMed: Gillis 2004 - F - - - - 0 - - 1 Cristina Dias
+/. 9 c.998del r.(?) p.(Lys333Argfs*15) - Unknown - pathogenic g.36976007del g.36975905del 998delA - NIPBL_000194 - Redeker; PubMed: Oliveira 2010 - - Germline - - - 0 - DNA DHPLC - - CDLS - Redeker; PubMed: Oliveira 2010 - M - Netherlands - - 0 - - 1 Bert Redeker
+/. 9 c.1011del r.(?) p.(Glu337Aspfs*11) - Unknown - pathogenic g.36976020del g.36975918del - - NIPBL_000255 - Redeker (unpublished) - - Germline - - - 0 - DNA SEQ - - CDLS - Redeker (unpublished) - M - Canada - - 0 - - 1 Bert Redeker
-/. 9 c.1151A>G r.(?) p.(Asn384Ser) - Unknown - benign g.36976160A>G g.36976058A>G - - NIPBL_000102 - PubMed: Miyake 2005; {dbSNP2291703} - - Germline - 0.03 (JP) - 0 - DNA SEQ - - ? patient PubMed: Miyake 2005 - - - Japan Asian - 0 - - 1 Cristina Dias
+?/. - c.1237C>T r.(?) p.(Pro413Ser) - Unknown ACMG VUS g.36976246C>T - - - NIPBL_000407 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CDLS IR_GH_0070 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 9 c.1275_1278del r.(?) p.(Thr426Hisfs*54) - Unknown - pathogenic g.36976284_36976287del g.36976182_36976185del 1275_1278delAACA - NIPBL_000196 - Redeker; PubMed: Oliveira 2010 - - Germline - - - 0 - DNA DHPLC - - CDLS - Redeker; PubMed: Oliveira 2010 - F - Sweden - - 0 - - 1 Bert Redeker
-?/. - c.1321A>G r.(?) p.(Thr441Ala) - Unknown - likely benign g.36976330A>G - NIPBL(NM_015384.4):c.1321A>G (p.T441A) - NIPBL_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.(1435C>T) r.(?) p.(Arg479*) - Unknown - pathogenic g.36976444C>T g.36976342C>T R479X - NIPBL_000052 - PubMed: Gillis 2004 - - De novo - - - 0 - DNA CSGE, SEQ - - CDLS patient PubMed: Gillis 2004 - - - - - - 0 - - 1 Cristina Dias
+/. 9 c.1445_1448del r.(?) p.(Arg482Asnfs*20) - Unknown - pathogenic g.36976454_36976457del g.36976352_36976355del 1445_1448delGAGA - NIPBL_000021 - PubMed: Oliveira 2010 - - De novo - - - 0 - DNA SEQ - - CDLS - PubMed: Oliveira 2010 - F - Portugal African - 0 - - 1 Cristina Dias
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »