Unique variants in the JAG1 gene

Information The variants shown are described using the NM_000214.2 transcript reference sequence.

770 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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 8i_26_ c.(1120+1_1121-1)_*1814{0} r.? p.? - pathogenic (dominant) g.(?_10618332)_(10631009_10632228)del - 1121-?_3657+?del - JAG1_000654 - PubMed: Guegan 2012 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 5i_26_ c.(755+1_756-1)_*1814{0} r.? p.? - pathogenic (dominant) g.(?_10618332)_(10633247_10637045)del - 756-?_3657+?del - JAG1_000655 - PubMed: Guegan 2012 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 _1i_26_ c.(81+1_82-1)_*1814{0} r.? p.? - pathogenic (dominant) g.(?_10618332)_(10653655_10654097)del - del ex2-26 - JAG1_000656 - PubMed: Li 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 _1_5i c.-516_(755+1_756-1){0} r.0? p.0? - pathogenic (dominant) g.(10633247_10637045)_(10654694_?)del - del ex1-5 - JAG1_000717 - PubMed: Li 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 _1_1i c.-516_(81+1_82-1){0} r.0? p.0? - pathogenic (dominant) g.(10653655_10654097)_(10654694_?)del g.(10673007_10673449)_(10674046_?)del del ex1 - JAG1_000731 - PubMed: Samejima 2007 - - Germline - - - - - Johan den Dunnen
+/. 16 _1_26_ c.-516_*1814{0} r.0 p.0 ACMG pathogenic, pathogenic (dominant) g.(?_10560458)_(10656087_?)del, g.(?_10601004)_(13194264_?)del, g.(?_10618332)_(10654694_?)del, 2 more items g.(?_10637684)_(10674046_?)del 0.095 Mb deletion (10508458-10604087 NCBI35), 1.3MB del, deletion JAG1 gene, incl. YAC 940D11, 8 more items - JAG1_000000 - PubMed: Kamath 2009, PubMed: Li 2015, PubMed: Ohashi 2017, PubMed: Warthen 2006, PubMed: Yuan 2001 - - De novo, Germline, Germline/De novo (untested), Unknown - - - - - Johan den Dunnen, Melissa Gilbert
+/. 1 - c.765C>R r.(?) p.(Tyr255*) - pathogenic (dominant) g.10633237G>Y g.10652589G>Y Y255X - JAG1_000652 - PubMed: Jung 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.770^771G>A r.(?) p.(Trp257*) - pathogenic (dominant) g.10633232^10633231C>T - W257X - JAG1_000653 - PubMed: Jung 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_9685413)_(20253840)?)del - 10.57 Mb deletion (9685413-20253840) - JAG1_000508 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_9091235)_(15063679_?)del - 5.97 Mb deletion (9039235-15011679 NCBI35) - JAG1_000503 - PubMed: Kamath 2009 - - De novo - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_10004874)_(14172443_?)del - 4.17 Mb deletion (9952874-14120443 NCBI35) - JAG1_000510 - PubMed: Kamath 2009 - - Unknown - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_5761024)_(14066276_?)del - 8.31 Mb deletion (5709024-14014276 NCBI35) - JAG1_000495 - PubMed: Kamath 2009 - - De novo - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_10432766)_(13712393_?)del - 3.28 Mb deletion (10380766-13660393 NCBI35) - JAG1_000512 - PubMed: Kamath 2009 - - Unknown - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_8808310)_(13247568_?)del - 4.44 Mb deletion (8756310-13195568 NCBI35) - JAG1_000501 - PubMed: Kamath 2009 - - Unknown - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_10360051)_(12798054_?)del - 2.44 Mb deletion (10308051-12746054 NCBI35) - JAG1_000511 - PubMed: Kamath 2009 - - De novo - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_7106353)_(12769237_?)del - 5.66 Mb deletion (7054353-12717237 NCBI35) - JAG1_000496 - PubMed: Kamath 2009 - - Germline - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_8573437)_(12418350_?)del - 3.84 Mb deletion (8521437-12366350 NCBI35) - JAG1_000499 - PubMed: Kamath 2009 - - De novo - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_9504468)_(12332526_?)del - 2.83 Mb deletion (9452468-12280526 NCBI35) - JAG1_000505 - PubMed: Kamath 2009 - - De novo - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic (dominant) g.(?_9251107)_(12214763_?)del - 2.96 Mb deletion (9251107-12214763) - JAG1_000504 - PubMed: Lin 2012 - - Germline/De novo (untested) - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_8096130)_(12096897_?)del - 4.00 Mb deletion (8044130-12044897 NCBI35) - JAG1_000498 - PubMed: Kamath 2009 - - De novo - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_8865006)_(11896206_?)del - 3.03 Mb deletion (8813006-11844206 NCBI35) - JAG1_000502 - PubMed: Warthen 2006, PubMed: Kamath 2009 - - De novo - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic (dominant) g.(?_8647519)_(11490289_?)del - 2.84 Mb deletion (8647519-11490289) - JAG1_000500 - PubMed: Lin 2012 - - Germline/De novo (untested) - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_4039627)_(11442419_?)del - 7.40 Mb deletion (3987627-11390419 NCBI35) - JAG1_000494 - PubMed: Kamath 2009 - - De novo - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_10523952)_(11385119_?)del - 861 Kb deletion (10523952-11385119) - JAG1_000514 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_7435615)_(11320829_?)del - 3.89 Mb deletion (7383615-11268829 NCBI35) - JAG1_000497 - PubMed: Kamath 2009 - - De novo - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_9525601)_(11079205_?)del - 1.55 Mb deletion (9473601-11027205 NCBI35) - JAG1_000506 - PubMed: Kamath 2009 - - Germline - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_9919383)_(10769877_?)del - 0.85 Mb deletion (9867383-10717877 NCBI35) - JAG1_000509 - PubMed: Laufer-Cahana 2002, PubMed: Kamath 2009 - - Germline - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_9562922)_(10743024_?)del - 1.18 Mb deletion (9510922-10691024 NCBI35) - JAG1_000507 - PubMed: Kamath 2009 - - Unknown - - - - - Melissa Gilbert
+/. 1 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_10402074)_(10658979_?)del - 257 Kb deletion (10402074-10658979) - JAG1_000513 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 1 _1_2i c.516_387+1662{0} r.0? p.0? - pathogenic g.10651687_10659738del - deletion ex1-2 (c.5560_387+1662del) - JAG1_000491 - PubMed: Warthen 2006 - - Unknown - - - - - Melissa Gilbert
+/. 2 _1_2i c.-516_(387+1_388-1){0} r.0? p.0? - pathogenic g.(10644663_10653348)_(10654694_?)del - deletion ex1-2 - JAG1_000614 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 1 _1_23i c.-516_(2916+1_2917-1){0} r.0? p.0? - pathogenic g.(10621893_10622107)_(10654694_?)del - deletion ex1-23 - JAG1_000535 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 1 _1_25i c.-516_(3199+1_3200-1){2} r.? p.? - pathogenic g.(10644663_10653348)_(10654694_?)dup - duplication ex1-25 - JAG1_000520 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 4 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic g.(?_10618332)_(10654694_?)del - whole gene deletion - JAG1_000517 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 1 1_1i c.-119_82-38del r.0? p.0? - pathogenic g.10653692_10654297del g.10673044_10673649del partial deletion ex1 - JAG1_000744 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
?/. 1 - c.-100C>T r.(?) p.(=) - VUS g.10654278G>A g.10673630G>A - - JAG1_000734 - PubMed: Stalke 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_26_ c.(?_-97)_(*170_?)del r.0 p.0 ACMG pathogenic (dominant) g.(?_10619976)_(10654275_?)del - deletion 10619976-1065275 - JAG1_000746 - PubMed: Togawa 2016 - - De novo - - - - - Johan den Dunnen
+/. 1 1 c.-26_9del r.(?) p.0? - pathogenic (dominant) g.10654170_10654204del g.10673522_10673556del -26del35 - JAG1_000733 - PubMed: Guegan 2012 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 2 _1_26_ - r.(?) p.(=) - VUS g.pter_(17900001_25600000)delins[NC_000001.10:g.pter_(92000001_94700000)], 1 more item g.pter_(17900001_25700000)delins[NC_000001.11:g.pter_(91500001_94300000)], 1 more item t(1;20)(p.22.1;p11.2) t(1;20)(p.22.1;p11.2) JAG1_000493 - PubMed: Warthen 2006 - - DUPLICATE record, Germline/De novo (untested) - - - - - Johan den Dunnen, Melissa Gilbert
+/. 1 _1_2i c.-516_(387+1_388-1){0} r.0 p.0 - pathogenic g.(10644663_10653348)_(10654694_?)del - deletion ex1-2 - JAG1_000614 - PubMed: Warthen 2006 - - Germline - - - - - Johan den Dunnen
+/. 6 _1_26_ c.-516_*1814{0} r.0 p.0 - pathogenic (dominant) g.(?_10618332)_(10654694_?)del, g.(?_7370428)_(21985498_?)del, g.(?_9298889)_(11610454_?)del, 1 more item g.(?_10637684)_(10674046_?)del, g.10637684_10674046{0} 12.96 Mb deletion (7318428-21933498 NCBI35), 2.31 Mb deletion (9246889-11558454 NCBI35), gene deletion - JAG1_000000 1.3 Mb deletion, 600 kb deletion incl. JAG1, detected using FISH (cosmid 3e9), mosaic in mother PubMed: Giannakudis 2001, PubMed: Kamath 2009, PubMed: Oda 1997, PubMed: Rand 1995, PubMed: Yuan 1998 - - De novo, Germline, Unknown - - - - - Johan den Dunnen, Melissa Gilbert
+/. 1 _1_3i c.-518_(439+768_?){1} r.? p.? - pathogenic g.(?_10643843)_(11323281_?)inv - inversion (10663195-11342633 hg38?) - JAG1_000745 - PubMed: Gilbert 2019, Journal: Gilbert 2019, Rajagopalan in prep. - - Unknown - - - - - Melissa Gilbert
?/. 2 - c.? r.? p.? - VUS g.pter_(5100001_17900000)delins[NC_000002.11:g.(135100001_136800000)_qterinv], 1 more item g.pter_(5100001_17900000)delins[NC_000002.12:g.(134300001_136100000)_qterinv], 1 more item t(2;20)(q21.3;p12) 46,XX, t(2;20)(q21.3;p12) JAG1_000492 - PubMed: Spinner 1994, PubMed: Kamath 2009 - - DUPLICATE record, Germline/De novo (untested) - - - - - Johan den Dunnen, Melissa Gilbert
+/. 1 - c.3G>A r.(?) p.0? - pathogenic g.10654176C>T g.10673528C>T - - JAG1_000625 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs863223647 Germline - 1/2785 individuals - - - Mohammed Faruq
+/. 2 1 c.3_4delinsTT r.(?) p.0? - pathogenic, pathogenic (dominant) g.10654175_10654176delinsAA g.10673527_10673528delinsAA 3GC>TT - JAG1_000151 - PubMed: Colliton 2001, PubMed: Gilbert 2019, Journal: Gilbert 2019 - - De novo, Unknown - - - - - Johan den Dunnen, Melissa Gilbert
+/. 1 1 c.11dup r.(?) p.(Arg5Thrfs*68) - pathogenic (dominant) g.10654168dup g.10673520dup - - JAG1_000150 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 2 1 c.30_36delinsACTCGGGA r.(?), r.30_36delinsacucggga p.(Gly11Leufs*62), p.Gly11Leufs*62 - pathogenic (dominant) g.10654143_10654149delinsTCCCGAGT g.10673495_10673501delinsTCCCGAGT 30CGGGCGC>ACTCGGGA - JAG1_000448 - PubMed: Boyer 2005, PubMed: Crosnier 2000 - - De novo, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 1 c.40del r.(?) p.(Leu14*) - pathogenic (dominant) g.10654139del g.10673491del 40delC - JAG1_000447 - PubMed: Crosnier 2000 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 1 c.41del r.(?) p.(Leu14Glnfs*32) - pathogenic g.10654138del g.10673490del 454delT - JAG1_000446 - PubMed: Crosnier 1999 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 1 c.50T>C r.(?) p.(Leu17Pro) - pathogenic g.10654129A>G g.10673481A>G - - JAG1_000149 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 2 1 c.53_73del r.(?) p.(Leu18_Leu24del) - pathogenic, pathogenic (dominant) g.10654106_10654126del g.10673458_10673478del 48_68del21 - JAG1_000143 - PubMed: Colliton 2001, PubMed: Gilbert 2019, Journal: Gilbert 2019 - - De novo, Unknown - - - - - Johan den Dunnen, Melissa Gilbert
+/. 2 1 c.59T>C r.(?) p.(Leu20Pro) - pathogenic, pathogenic (dominant) g.10654120A>G g.10673472A>G L20P - JAG1_000147 - PubMed: Gilbert 2019, Journal: Gilbert 2019, Rajagopalan in prep., PubMed: Guegan 2012 - - Germline/De novo (untested), Unknown - - - - - Johan den Dunnen, Melissa Gilbert
+/., +?/. 2 1 c.59T>G r.(?) p.(Leu20Arg) - likely pathogenic, pathogenic (dominant) g.10654120A>C g.10673472A>C - - JAG1_000148 - PubMed: Izumi 2016 - - Germline - - - - - Johan den Dunnen, Melissa Gilbert
+?/. 1 1 c.63_74del r.(?) p.(Cys22_Arg25del) - pathogenic g.10654105_10654116del g.10673457_10673468del - - JAG1_000142 maternally-inherited PubMed: Warthen 2006 - - Germline - - - - - Melissa Gilbert
+?/. 1 1 c.64T>C r.(?) p.(Cys22Arg) - likely pathogenic (dominant) g.10654115A>G g.10673467A>G - - JAG1_000146 - PubMed: Lin 2012 - - Germline/De novo (untested) - - - - - Melissa Gilbert
+/. 1 1 c.65del r.(?) p.(Cys22Leufs*24) - pathogenic (dominant) g.10654114del g.10673466del 65delG - JAG1_000732 - PubMed: Li 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 1 c.66_67del r.(?) p.(Ala23Profs*49) - pathogenic g.10654112_10654113del g.10673464_10673465del 66_67delTG - JAG1_000145 - PubMed: Colliton 2001 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.68_69delinsG r.(?) p.(Ala23GlyfsTer23) - pathogenic g.10654110_10654111delinsC g.10673462_10673463delinsC JAG1(NM_000214.3):c.68_69delCCinsG (p.A23Gfs*23) - JAG1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.70del r.(?) p.(Leu24Cysfs*22) - pathogenic g.10654109del g.10673461del 68delC - JAG1_000144 - PubMed: Colliton 2001 - - De novo - - - - - Johan den Dunnen
+/. 1 1 c.73C>T r.(?) p.(Arg25*) - pathogenic g.10654106G>A g.10673458G>A 486C>T - JAG1_000445 - PubMed: Crosnier 1999 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 1 c.73_81+3del r.spl p.? - pathogenic g.10654095_10654106del g.10673447_10673458del 486del12 - JAG1_000443 - PubMed: Heritage 2000 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.81+1G>A r.spl p.? - pathogenic g.10654097C>T g.10673449C>T - - JAG1_000141 - PubMed: Warthen 2006 - - Unknown - - - - - Melissa Gilbert
+/. 1 - c.82-7_96del r.spl p.? - pathogenic (dominant) g.10653640_10653661del g.10672992_10673013del 82-7del22 - JAG1_000739 - PubMed: Crosnier 2000 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.82-6C>A r.81_82insgcag p.? - pathogenic (dominant) g.10653660G>T g.10673012G>T CM030050 - JAG1_000639 - PubMed: Vázquez-Martínez 2014 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.82-2A>G r.spl p.? - pathogenic (dominant) g.10653656T>C g.10673008T>C 495-2A>G - JAG1_000641 - PubMed: Ropke 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.84del r.(?) p.(Cys29Valfs*17) - pathogenic (dominant) g.10653652del g.10673004del 497delG - JAG1_000442 - PubMed: Ropke 2003 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.92C>T r.(?) p.(Ala31Val) - pathogenic (dominant) g.10653644G>A g.10672996G>A 505C>T - JAG1_000441 - PubMed: Ropke 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.97G>A r.(?) p.(Gly33Ser) - pathogenic g.10653639C>T g.10672991C>T - - JAG1_000139 - PubMed: Warthen 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.97G>C r.(?) p.(Gly33Arg) - pathogenic g.10653639C>G g.10672991C>G - - JAG1_000140 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 1 2 c.98dup r.(?) p.(Gln34Serfs*39) - pathogenic (dominant) g.10653638dup g.10672990dup 557insG - JAG1_000440 - PubMed: Yuan 2001 - - De novo - - - - - Johan den Dunnen
+/. 1 2 c.98G>A r.(?) p.(Gly33Asp) - pathogenic g.10653638C>T g.10672990C>T - - JAG1_000137 - PubMed: Colliton 2001 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 2 c.98G>T r.(?) p.(Gly33Val) ACMG pathogenic, pathogenic (dominant) g.10653638C>A g.10672990C>A - - JAG1_000138 - PubMed: Ohashi 2017, PubMed: Warthen 2006 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.100_103del r.(?) p.(Gln34Serfs*11) - pathogenic g.10653633_10653636del g.10672985_10672988del - - JAG1_000136 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+?/. 1 2 c.104T>C r.(?) p.(Phe35Ser) - likely pathogenic g.10653632A>G g.10672984A>G - - JAG1_000135 maternally-inherited PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Germline - - - - - Melissa Gilbert
-/. 1 - c.105C>T r.(=) p.(=) - benign g.10653631G>A g.10672983G>A 518C/T - JAG1_000636 - PubMed: Crosnier 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.110T>C r.(?) p.(Leu37Ser) - pathogenic g.10653626A>G g.10672978A>G - - JAG1_000134 - PubMed: Colliton 2001 - - De novo - - - - - Johan den Dunnen
+/. 1 2 c.116T>G r.(?) p.(Ile39Ser) - pathogenic (dominant) g.10653620A>C g.10672972A>C - - JAG1_000439 - PubMed: Heritage 2002 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.119T>C r.(?) p.(Leu40Pro) - pathogenic (dominant) g.10653617A>G g.10672969A>G 532C>T - JAG1_000438 - PubMed: Ropke 2003 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.127C>T r.(?) p.(Gln43*) - pathogenic g.10653609G>A g.10672961G>A - - JAG1_000133 - PubMed: Colliton 2001 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/., -?/. 4 2 c.133G>T r.(?) p.(Val45Leu) - likely benign, pathogenic g.10653603C>A g.10672955C>A - - JAG1_000437 classification based on frequency in 305 unrelated individuals, VKGL data sharing initiative Nederland PubMed: Kohsaka 2002, PubMed: Le 2019 - - CLASSIFICATION record, Germline - frequency 0.017 - - - Global Variome, with Curator vacancy, Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 2 c.139_152del r.(?) p.(Gly47Argfs*21) - pathogenic g.10653584_10653597del g.10672936_10672949del - - JAG1_000130 - PubMed: Warthen 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.141_142del r.(?) p.(Glu48Alafs*24) - pathogenic g.10653594_10653595del g.10672946_10672947del - - JAG1_000132 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 4 2 c.142G>T r.(?), r.142g>u p.(Glu48*), p.Glu48* - pathogenic (dominant) g.10653594C>A g.10672946C>A - - JAG1_000436 - PubMed: Boyer 2005, PubMed: Crosnier 2000, PubMed: Guida 2011, PubMed: Jung 2007 - - De novo, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.146del r.(?) p.(Leu49Argfs*112) - pathogenic g.10653590del g.10672942del 559delT - JAG1_000435 - PubMed: Crosnier 1999 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.148C>T r.(?) p.(Gln50*) - pathogenic g.10653588G>A g.10672940G>A - - JAG1_000131 - PubMed: Colliton 2001 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.157A>G r.(?) p.(Asn53Asp) - pathogenic g.10653579T>C g.10672931T>C - - JAG1_000434 - PubMed: Kohsaka 2002 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.161_162delinsAA r.(?) p.(Cys54*) - pathogenic (dominant) g.10653574_10653575delinsTT g.10672926_10672927delinsTT 620GC>AA - JAG1_000129 - PubMed: Yuan 2001 - - De novo, Germline/De novo (untested) - - - - - Johan den Dunnen, Melissa Gilbert
+/. 1 2 c.165C>A r.(?) p.(Cys55*) - pathogenic g.10653571G>T g.10672923G>T - - JAG1_000128 - PubMed: Warthen 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.172_178del r.(?) p.(Ala58Thrfs*101) - pathogenic (dominant) g.10653558_10653564del g.10672910_10672916del - - JAG1_000433 - PubMed: Jurkiewicz 2005 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.187_188del r.(?) p.(Asp63Profs*9) - pathogenic g.10653548_10653549del g.10672900_10672901del - - JAG1_000127 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 1 - c.192dup r.(?) p.(Lys65GlnfsTer8) - pathogenic g.10653544dup g.10672896dup JAG1(NM_000214.3):c.192dupC (p.K65Qfs*8) - JAG1_000486 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.194A>T r.(?) p.(Lys65Met) - pathogenic g.10653542T>A g.10672894T>A - - JAG1_000432 - PubMed: Kohsaka 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.211dup r.(?) p.(Cys71Leufs*2) - pathogenic (dominant) g.10653525dup g.10672877dup 211_212insT - JAG1_000730 - PubMed: Guegan 2012 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.211_225del r.(?) p.(Cys71_Phe75del) - pathogenic g.10653511_10653525del g.10672863_10672877del - - JAG1_000125 - PubMed: Colliton 2001 - - De novo - - - - - Johan den Dunnen
+?/. 1 2 c.221A>G r.(?) p.(Tyr74Cys) - VUS g.10653515T>C g.10672867T>C - - JAG1_000126 Variant is also present in the affected paternal grandmother. PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Germline - - - - - Melissa Gilbert
+/. 1 2 c.224T>C r.(?) p.(Phe75Ser) - pathogenic (dominant) g.10653512A>G g.10672864A>G 637T>C - JAG1_000431 - PubMed: Ropke 2003 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.225C>A r.(?) p.(Phe75Leu) - pathogenic (dominant) g.10653511G>T g.10672863G>T F75L - JAG1_000729 - PubMed: Guegan 2012 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.225C>G r.(?) p.(Phe75Leu) ACMG pathogenic (dominant) g.10653511G>C g.10672863G>C - - JAG1_000760 - PubMed: Ohashi 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 2 c.232T>A r.(?) p.(Cys78Ser) - pathogenic g.10653504A>T g.10672856A>T - - JAG1_000123 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - - - Melissa Gilbert
+/. 1 2 c.232T>C r.(?) p.(Cys78Arg) - pathogenic (dominant) g.10653504A>G g.10672856A>G C78R - JAG1_000728 - PubMed: Guegan 2012 - - Germline/De novo (untested) - - - - - Johan den Dunnen
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