Unique variants in the NIPBL gene

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

357 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     

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     

Owner     
+/. 1 _1_47_ c.(?_-481)_(*927_?)del r.(?) p.0? - - pathogenic g.? - - - NIPBL_000262 - - - - De novo - - - - - Joao Silva
+/. 2 1 c.-316_-315delinsA r.-316_-315delinsa p.(?) - - pathogenic g.36877044_36877045delinsA g.36876942_36876943delinsA -321_-320delCCinsA - NIPBL_000093 mRNA expression reduced (14%); father affected; de novo, in father, 1 more item PubMed: Borck 2004; PubMed: Borck 2006, PubMed: Borck 2006 - - De novo, Germline - - - - - Cristina Dias
+/. 1 1 c.-94C>T r.(?) p.(?) - - pathogenic g.36877266C>T g.36877164C>T - - NIPBL_000159 creates a new ATG site? PubMed: Selicorni 2007 - - Germline/De novo (untested) - - - - - Cristina Dias
+/. 1 1i c.-79-2A>G r.spl p.? - - pathogenic g.36953718A>G g.36953616A>G 1-81A>G - NIPBL_000148 - PubMed: Selicorni 2007 - - Germline/De novo (untested) - - - - - Cristina Dias
+/. 1 10 c.(3071C>?) r.(?) p.(Ser1024*) - - pathogenic g.? - S1024X - NIPBL_000063 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - - - Cristina Dias
+/. 1 18 c.(4193C>?) r.(?) p.(Ser1398*) - - pathogenic g.? - S1398X - NIPBL_000067 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - - - Cristina Dias
+/. 1 30i_47_ c.(5710-?)_(*927_?)del r.(?) p.(?) - - pathogenic g.? - - - NIPBL_000261 - - - - Germline - - - - - Joao Silva
+/. 1 31 c.5721_5725de r.(?) p.(Glu1908Ilefs*13) - - pathogenic g.? - g.5721_5725delTGAAA - NIPBL_000083 - PubMed: Kaur 2005 - - Germline - - - - - Cristina Dias
+/. 3 2 c.2T>A r.(?) p.(Met1?) - - pathogenic g.36953800T>A g.36953698T>A 2G-A (M1K) - NIPBL_000034 - PubMed: Krantz 2004; PubMed: Gillis 2004 - - De novo - - - - - Cristina Dias
+/. 1 - c.3G>T r.(?) p.(Met1?) - - 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 - - - Mohammed Faruq
+/. 1 2 c.13_14dup r.(?) p.(Met5Ilefs*20) - - pathogenic g.36953811_36953812dup g.36953709_36953710dup 13_14dupAT - NIPBL_000247 - PubMed: Kline 2007 - - Germline - - - - - Jorge Oliveira
+/. 2 2 c.43G>A r.(?) p.(Gly15Arg), p.Gly15Arg - - NA, pathogenic g.36953841G>A g.36953739G>A - - NIPBL_000229 yeast two-hybrid analysis: abolishes NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen, Jorge Oliveira
+/. 2 2i c.64+1G>A r.spl p.? - - pathogenic g.36953863G>A g.36953761G>A - - NIPBL_000094 - PubMed: Borck 2004 - - De novo - - - - - Cristina Dias, Joao Silva
+/. 1 2i c.64+5G>A r.spl? p.? - - pathogenic g.36953867G>A g.36953765G>A - - NIPBL_000107 - PubMed: Borck 2007 - - Germline - - - - - Cristina Dias
+/. 5 2i c.65-5A>G r.spl? p.(Leu22Hisfs*23), p.? - - pathogenic g.36955569A>G g.36955467A>G - - NIPBL_000008 New acceptor splice site (bioinformatic prediction) Redeker (unpublished), PubMed: Borck 2007, PubMed: Gillis 2004, PubMed: Selicorni 2007 - - De novo, Germline, Germline/De novo (untested) - - - - - Bert Redeker, Cristina Dias
+/. 1 3 c.70_79del r.70_79delAACCAGCTG p.(Asn24_Leu26del) - - pathogenic g.36955579_36955588del g.36955477_36955486del 70_79delAACCAGCTG - NIPBL_000146 - PubMed: Selicorni 2007 - - Germline/De novo (untested) - - - - - Cristina Dias
+/. 3 3 c.86C>A r.(?) p.(Pro29Gln), p.Pro29Gln - - NA, pathogenic g.36955595C>A g.36955493C>A - - NIPBL_000123 not in 150 controls; highly conserved aminoacid (rat, mouse, and Drosophila), 1 more item ESHG2010 Braunholz P11.015, PubMed: Bhuiyan 2006 - - De novo, Germline, In vitro (cloned) - - - - - Johan den Dunnen, Jorge Oliveira, Cristina Dias
+/. 1 3 c.86del r.(?) p.(Pro29Hisfs*18) - - pathogenic g.36955595del g.36955493del - - NIPBL_000263 - - - - Germline - - - - - Joao Silva
+/. 1 3 c.95del r.(?) p.(Leu32Tyrfs*15) - - pathogenic g.36955604del g.36955502del 95delT - NIPBL_000095 - PubMed: Borck 2004 - - De novo - - - - - Cristina Dias
+/. 1 3 c.133C>T r.(?) p.(Arg45*) - - pathogenic g.36955642C>T g.36955540C>T - - NIPBL_000181 - Redeker; PubMed: Oliveira 2010 - - Germline - - - - - Bert Redeker
+/. 1 3 c.150del r.(?) p.(Asn51Thrfs*27) - - pathogenic g.36955659del g.36955557del 150delG - NIPBL_000035 - PubMed: Krantz 2004; PubMed: Gillis 2004 - - De novo - - - - - Cristina Dias
-?/. 1 - c.179A>G r.(?) p.(Asn60Ser) - - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 3 c.190C>T r.(?) p.(Gln64*) - - likely pathogenic g.36955699C>T g.36955597C>T - - NIPBL_000265 - - - - Germline - - - - - Gemma Poke
+/. 1 3 c.199_208delinsATCAACAGGTGAC r.(?) p.(His67Ilefs*4) - - pathogenic g.36955708_36955717delinsATCAACAGGTGAC g.36955606_36955615delinsATCAACAGGTGAC 199del10; 199ins13 - NIPBL_000048 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - - - Cristina Dias
-?/. 1 3 c.218C>T r.(?) p.(Ser72Leu) - - 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) - - - - - Cristina Dias
+/. 1 3i c.230+1G>A r.65_230del p.(Leu22Glnfs*3) - - pathogenic g.36955740G>A g.36955638G>A - - NIPBL_000223 - PubMed: Pié 2010 - - De novo - - - - - Cristina Dias
-/. 1 3i c.230+61C>A r.(?) p.(=) - - benign g.36955800C>A g.36955698C>A - - NIPBL_000165 - PubMed: Gillis 2004 - - Germline - - - - - Cristina Dias
+?/. 1 3i_4i c.(230+1_231-1)_(358+1_359-1)del r.? p.? - - likely pathogenic g.(?_36958206)_(36958333_?)del - chr5:36958206-?_36958333+?del - NIPBL_000399 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 4 c.256G>A r.(?) p.(Asp86Asn) - - likely benign, VUS g.36958231G>A g.36958129G>A - - NIPBL_000244 - Redeker (unpublished), PubMed: Ganapathy 2019 - rs1188531884 Germline - - - - - Johan den Dunnen, Bert Redeker
-?/. 1 - c.294C>T r.(?) p.(Ala98=) - - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.313A>G r.(?) p.(Asn105Asp) - - 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 - - - - - VKGL-NL_Groningen
+/., -?/. 2 4 c.332G>C r.(?) p.(Ser111Thr), p.Ser111Thr - - NA, pathogenic g.36958307G>C g.36958205G>C - - NIPBL_000230 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen, Jorge Oliveira
+/. 1 4 c.347dup r.(?) p.(Tyr116*) - - pathogenic g.36958322dup g.36958220dup 347dupA - NIPBL_000040 - PubMed: Tonkin 2004 - - Germline/De novo (untested) - - - - - Cristina Dias
+?/. 2 4i c.358+1G>A r.231_358del p.(Ile77Metfs*5) - - likely pathogenic g.36958334G>A g.36958232G>A - - NIPBL_000290 - PubMed: Teresa-Rodrigo 2014 - - Germline - - - - - Cristina Dias
+?/. 1 4i c.358+3G>T r.spl? p.? - - likely pathogenic g.36958336G>T g.36958234G>T - - NIPBL_000203 - Redeker; PubMed: Oliveira 2010 - - Germline - - - - - Bert Redeker
+?/. 1 - c.358+5G>C r.spl? p.? - - 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 - - - Mohammed Faruq
+/. 1 5i c.(415_416insTTAT) r.(?) p.(Ser139Phefs*13) - - pathogenic g.36961642_36961643insTTAT g.36961540_36961541insTTAT 416insTTAT; p.S139FfsX11 - NIPBL_000112 - PubMed: Yan 2006 - - De novo - - - - - Cristina Dias
+/. 1 - c.430C>T r.(?) p.(Gln144Ter) - - pathogenic g.36961657C>T g.36961555C>T - - NIPBL_000357 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 5i c.459-9G>A r.spl? p.(=) - - likely pathogenic g.36962216G>A g.36962114G>A - - NIPBL_000256 mosaicism; activation of cryptic acceptor splice site (bioinformatic prediction) Redeker (unpublished) - - De novo - - - - - Bert Redeker
+/. 1 6 c.460del r.(?) p.(Arg154Glyfs*62) - - pathogenic g.36962226del g.36962124del 460delC - NIPBL_000150 - PubMed: Selicorni 2007 - - Germline/De novo (untested) - - - - - Cristina Dias
?/. 2 - c.507G>T r.(?) p.(Gln169His) - - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
+/. 2 6 c.513dup r.(?) p.(Ser172*) - - pathogenic g.36962279dup g.36962177dup 513dupT - NIPBL_000162 - Redeker (unpublished), PubMed: Bhuiyan 2006b - - Germline - - - - - Bert Redeker, Cristina Dias
+/., -?/. 4 6 c.535G>A r.(?) p.(Ala179Thr), p.Ala179Thr - - likely benign, NA, pathogenic g.36962301G>A g.36962199G>A NIPBL(NM_015384.4):c.535G>A (p.A179T, p.(Ala179Thr)) - NIPBL_000231 VKGL data sharing initiative Nederland, yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - Johan den Dunnen, Jorge Oliveira, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/., ?/. 2 6 c.575C>T r.(?) p.(Pro192Leu), p.Pro192Leu - - NA, pathogenic g.36962341C>T g.36962239C>T - - NIPBL_000232 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen, Jorge Oliveira
+/. 1 - c.598C>T r.(?) p.(Gln200*) - - 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 - - - Mohammed Faruq
+/. 1 - c.610+1G>A r.spl? p.? - - 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 - - - Mohammed Faruq
+/. 1 6i c.610+5G>C r.spl? p.? - - pathogenic g.36962381G>C g.36962279G>C - - NIPBL_000124 - PubMed: Bhuiyan 2006 - - De novo - - - - - Cristina Dias
+/. 2 6i c.611-6T>C r.spl? p.(=) - - pathogenic g.36970972T>C g.36970870T>C - - NIPBL_000125, NIPBL_000126 - PubMed: Bhuiyan 2006 - - De novo - - - - - Cristina Dias
+/. 2 6i c.611-2A>G r.spl p.? - - pathogenic g.36970976A>G g.36970874A>G - - NIPBL_000049 - PubMed: Gillis 2004, PubMed: Kline 2007 - - Germline, Germline/De novo (untested) - - - - - Jorge Oliveira, Cristina Dias
+/., -?/. 3 7 c.737A>G r.(?) p.(Asp246Gly), p.Asp246Gly - - NA, pathogenic g.36971104A>G g.36971002A>G - - NIPBL_000113 Aminoacid conserved in all species except Danio rerio, 1 more item ESHG2010 Braunholz P11.015, PubMed: Yan 2006 - - De novo, Germline, In vitro (cloned) - - - - - Johan den Dunnen, Jorge Oliveira, Cristina Dias
+/. 1 7 c.742_743del r.(?) p.(Leu248Thrfs*8) - - pathogenic g.36971109_36971110del g.36971007_36971008del 742delCT - NIPBL_000050 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - - - Cristina Dias
+/., -?/. 2 7 c.760C>G r.(?) p.(Leu254Val), p.Leu254Val - - NA, pathogenic g.36971127C>G g.36971025C>G - - NIPBL_000233 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen, Jorge Oliveira
+/. 1 7i c.771+1G>C r.(751_771del) p.(Val251_Asp257del) - - pathogenic g.36971139G>C g.36971037G>C - - NIPBL_000302 - - - - De novo yes - - - - Wenjuan Qiu
+/., -?/. 3 8 c.781T>G r.(?) p.(Ser261Ala), p.(Ser262Ala), p.Ser262Ala - - likely benign, NA, pathogenic g.36972056T>G g.36971954T>G NIPBL(NM_015384.4):c.781T>G (p.(Ser261Ala)) - NIPBL_000234 VKGL data sharing initiative Nederland, yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - rs16903425 CLASSIFICATION record, Germline, In vitro (cloned) - - - - - Johan den Dunnen, Jorge Oliveira, VKGL-NL_Leiden
?/. 1 - c.784T>C r.(?) p.(Ser262Pro) - - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.802G>A r.(?) p.(Ala268Thr) - - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 8 c.826C>T r.(?) p.(Gln276*) - - pathogenic g.36972101C>T g.36971999C>T - - NIPBL_000183 - Redeker; PubMed: Oliveira 2010 - - De novo - - - - - Bert Redeker
-?/. 1 - c.834A>G r.(?) p.(Val278=) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.839C>T r.(?) p.(Ser280Phe) - - likely benign g.36972114C>T g.36972012C>T - - NIPBL_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 8i c.868+1G>A r.spl p.? - - pathogenic g.36972144G>A g.36972042G>A - - NIPBL_000241 - Redeker (unpublished) - - Germline - - - - - Bert Redeker
+?/. 2 8i c.869-2A>G r.869_1495del p.(Gly290_Lys498del) - - likely pathogenic g.36975876A>G g.36975774A>G - - NIPBL_000291 - PubMed: Teresa-Rodrigo 2014 - - Germline - - - - - Cristina Dias
+/. 1 9 c.889dup r.(?) p.(Leu297Profs*39) - - pathogenic g.36975898dup g.36975796dup 889dupC - NIPBL_000209 - Redeker; PubMed: Oliveira 2010 - - De novo - - - - - Bert Redeker
?/. 1 - c.940A>G r.(?) p.(Ile314Val) - - 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 - - - - - VKGL-NL_Leiden
+/. 1 9 c.961del r.(?) p.(Arg321Glufs*9) - - pathogenic g.36975970del g.36975868del 961delA - NIPBL_000051 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - - - Cristina Dias
+/. 1 9 c.998del r.(?) p.(Lys333Argfs*15) - - pathogenic g.36976007del g.36975905del 998delA - NIPBL_000194 - Redeker; PubMed: Oliveira 2010 - - Germline - - - - - Bert Redeker
+/. 1 9 c.1011del r.(?) p.(Glu337Aspfs*11) - - pathogenic g.36976020del g.36975918del - - NIPBL_000255 - Redeker (unpublished) - - Germline - - - - - Bert Redeker
-/. 1 9 c.1151A>G r.(?) p.(Asn384Ser) - - benign g.36976160A>G g.36976058A>G - - NIPBL_000102 - PubMed: Miyake 2005; {dbSNP2291703} - - Germline - 0.03 (JP) - - - Cristina Dias
+?/. 1 - c.1237C>T r.(?) p.(Pro413Ser) - ACMG VUS g.36976246C>T - - - NIPBL_000407 - - - - Germline/De novo (untested) - - - - - Jinu Han
+/. 1 9 c.1275_1278del r.(?) p.(Thr426Hisfs*54) - - pathogenic g.36976284_36976287del g.36976182_36976185del 1275_1278delAACA - NIPBL_000196 - Redeker; PubMed: Oliveira 2010 - - Germline - - - - - Bert Redeker
-?/. 1 - c.1321A>G r.(?) p.(Thr441Ala) - - likely benign g.36976330A>G - NIPBL(NM_015384.4):c.1321A>G (p.T441A) - NIPBL_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 9 c.(1435C>T) r.(?) p.(Arg479*) - - pathogenic g.36976444C>T g.36976342C>T R479X - NIPBL_000052 - PubMed: Gillis 2004 - - De novo - - - - - Cristina Dias
+/. 1 9 c.1445_1448del r.(?) p.(Arg482Asnfs*20) - - pathogenic g.36976454_36976457del g.36976352_36976355del 1445_1448delGAGA - NIPBL_000021 - PubMed: Oliveira 2010 - - De novo - - - - - Cristina Dias
-/., -?/. 4 9i c.1495+8_1495+10del r.(=), r.(?) p.(=), p.(?) - - benign, likely benign g.36976512_36976514del g.36976410_36976412del 1495+8_1495+10delAAT, 1 more item - NIPBL_000219, NIPBL_000306 not pathogenic, inherited from unaffected father, VKGL data sharing initiative Nederland Redeker (unpublished) - - CLASSIFICATION record, Germline - - - - - Bert Redeker, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 10 c.1513dup r.(?) p.(Arg505Lysfs*17) - - pathogenic g.36984795dup g.36984693dup 1513-1514insA - NIPBL_000127 - PubMed: Bhuiyan 2006 - - De novo - - - - - Cristina Dias
?/. 1 - c.1522G>C r.(?) p.(Asp508His) - - VUS g.36984804G>C g.36984702G>C - - NIPBL_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 10 c.1547del r.(?) p.(Gly516Valfs*24) - - pathogenic g.36984829del g.36984727del 516delT - NIPBL_000258 not in 45 controls PubMed: Galehdari 2011 - - De novo - - - - - Cristina Dias
+/. 2 10 c.1547dup r.(?) p.(Ala517Cysfs*5) - - pathogenic g.36984829dup g.36984727dup 1546-1547insG, 1546insG - NIPBL_000036 - PubMed: Gillis 2004, PubMed: Krantz 2004 - - De novo - - - - - Cristina Dias
?/. 1 - c.1579G>C r.(?) p.(Glu527Gln) - - VUS g.36984861G>C g.36984759G>C NIPBL(NM_015384.4):c.1579G>C (p.E527Q) - NIPBL_000335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1579G>T r.(?) p.(Glu527*) - - pathogenic g.36984861G>T - NIPBL(NM_015384.4):c.1579G>T (p.E527*) - NIPBL_000410 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 10 c.1669_1670insC r.(?) p.(Ile557Thrfs*12) - - pathogenic g.36984951_36984952insC g.36984849_36984850insC 1669insC - NIPBL_000053 - PubMed: Gillis 2004 - - Germline/De novo (untested) - - - - - Cristina Dias
+/. 1 - c.1675C>T r.(?) p.(Gln559Ter) - - pathogenic g.36984957C>T g.36984855C>T - - NIPBL_000359 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 10 c.1774_1787del r.(?) p.(Thr592Serfs*2) - - pathogenic g.36985056_36985069del g.36984954_36984967del - - NIPBL_000210 - Redeker; PubMed: Oliveira 2010 - - Germline - - - - - Bert Redeker
+/. 1 10 c.1784del r.(?) p.(Asn595Thrfs*19) - - pathogenic g.36985066del g.36984964del 1784delA - NIPBL_000128 - PubMed: Bhuiyan 2006 - - De novo - - - - - Cristina Dias
+/. 1 10 c.1845_1846del r.(?) p.(Ser616*) - - pathogenic g.36985127_36985128del g.36985025_36985026del 1844_1845delAA - NIPBL_000202 - PubMed: Wilmink 2009 - - De novo - - - - - Cristina Dias
?/. 1 - c.1856G>A r.(?) p.(Arg619Lys) - - VUS g.36985138G>A - NIPBL(NM_015384.4):c.1856G>A (p.R619K) - NIPBL_000388 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 10 c.1885C>T r.(?) p.(Arg629*) - - pathogenic g.36985167C>T g.36985065C>T - - NIPBL_000099 mosaicism suspected PubMed: Miyake 2005 - - Germline, Germline/De novo (untested) - - - - - Cristina Dias, Joao Silva
+/. 1 10 c.1902dup r.(?) p.(Ser635Ilefs*3) - - pathogenic g.36985184dup g.36985082dup 1902insA - NIPBL_000054 - PubMed: Gillis 2004 - - De novo - - - - - Cristina Dias
+/. 1 10 c.1921G>T r.(?) p.(Glu641*) - - pathogenic g.36985203G>T g.36985101G>T - - NIPBL_000098 - PubMed: Miyake 2005 - - Germline/De novo (untested) - - - - - Cristina Dias
-/. 2 10 c.1965G>T r.(?) p.(Glu655Asp) - - benign g.36985247G>T g.36985145G>T NIPBL(NM_015384.4):c.1965G>T (p.E655D) - NIPBL_000189 not pathogenic, inherited from unaffected mother, VKGL data sharing initiative Nederland Redeker (unpublished) - - CLASSIFICATION record, Germline - - - - - Bert Redeker, VKGL-NL_Rotterdam
+/. 1 10 c.2007del r.(?) p.(Glu670Serfs*124) - - pathogenic g.36985289del g.36985187del 2007delT - NIPBL_000179 - Redeker; PubMed: Oliveira 2010 - - De novo - - - - - Bert Redeker
-/. 3 10 c.2021A>G r.(?) p.(Asn674Ser) - - benign g.36985303A>G g.36985201A>G NIPBL(NM_015384.5):c.2021A>G (p.N674S) - NIPBL_000103, NIPBL_000307 VKGL data sharing initiative Nederland PubMed: Miyake 2005; {dbSNP3822471} - - CLASSIFICATION record, Germline - 0.13 (JP) - - - Cristina Dias, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.2076A>G r.(?) p.(Arg692=) - - likely benign g.36985358A>G g.36985256A>G NIPBL(NM_015384.4):c.2076A>G (p.R692=) - NIPBL_000360 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 10 c.2116_2117dup r.(?) p.(Gly707Argfs*88) - - pathogenic g.36985398_36985399dup g.36985296_36985297dup 2116_2117dupAA - NIPBL_000175 - Redeker; PubMed: Oliveira 2010 - - Germline - - - - - Bert Redeker
?/. 1 - c.2129G>A r.(?) p.(Arg710Gln) - - VUS g.36985411G>A g.36985309G>A - - NIPBL_000323 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 10 c.2146C>T r.(?) p.(Gln716*) - - pathogenic g.36985428C>T g.36985326C>T - - NIPBL_000222 - PubMed: Pié 2010 - - De novo - - - - - Cristina Dias
-?/. 1 - c.2164C>T r.(?) p.(Pro722Ser) - - likely benign g.36985446C>T - NIPBL(NM_015384.4):c.2164C>T (p.(Pro722Ser)) - NIPBL_000393 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2227C>T r.(?) p.(Arg743Cys) - - VUS g.36985509C>T - NIPBL(NM_015384.4):c.2227C>T (p.R743C) - NIPBL_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2256A>G r.(?) p.(Glu752=) - - likely benign g.36985538A>G g.36985436A>G NIPBL(NM_015384.5):c.2256A>G (p.E752=) - NIPBL_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 10 c.2270del r.(?) p.(Thr757Asnfs*37) - - pathogenic g.36985552del g.36985450del 2270delC - NIPBL_000022 - PubMed: Oliveira 2010 - - Germline/De novo (untested) - - - - - Cristina Dias
+/. 1 10 c.2291_2292insC r.(?) p.(Arg765*) - - pathogenic g.36985573_36985574insC g.36985471_36985472insC - - NIPBL_000205 - Redeker; PubMed: Oliveira 2010 - - Germline - - - - - Bert Redeker
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