Full data view for gene JAG1

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

1284 entries on 13 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/. 8i_26_ c.(1120+1_1121-1)_*1814{0} r.? p.? Unknown - pathogenic (dominant) g.(?_10618332)_(10631009_10632228)del - 1121-?_3657+?del - JAG1_000654 - PubMed: Guegan 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - TOF - PubMed: Guegan 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 5i_26_ c.(755+1_756-1)_*1814{0} r.? p.? Unknown - pathogenic (dominant) g.(?_10618332)_(10633247_10637045)del - 756-?_3657+?del - JAG1_000655 - PubMed: Guegan 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - TOF - PubMed: Guegan 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. _1i_26_ c.(81+1_82-1)_*1814{0} r.? p.? Unknown - pathogenic (dominant) g.(?_10618332)_(10653655_10654097)del - del ex2-26 - JAG1_000656 - PubMed: Li 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS ? PubMed: Li 2015 - F - China - - 0 - - 1 Johan den Dunnen
+/. _1_5i c.-516_(755+1_756-1){0} r.0? p.0? Unknown - pathogenic (dominant) g.(10633247_10637045)_(10654694_?)del - del ex1-5 - JAG1_000717 - PubMed: Li 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS ? PubMed: Li 2015 - M - China - - 0 - - 1 Johan den Dunnen
+/. _1_1i c.-516_(81+1_82-1){0} r.0? p.0? Unknown - pathogenic (dominant) g.(10653655_10654097)_(10654694_?)del g.(10673007_10673449)_(10674046_?)del del ex1 - JAG1_000731 - PubMed: Samejima 2007 - - Germline - - - 0 - DNA DHPLC, SEQ - - ALGS ? PubMed: Samejima 2007 family history F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, incl. YAC 940D11 - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - 0 - DNA SEQ - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-103H2 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - 0 - DNA SEQ - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-103H2 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - 0 - DNA SEQ - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-162P21 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - 0 - DNA SEQ - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-162P21 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - 0 - DNA SEQ - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between YAC clones 854B1 and 940D11 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - 0 - DNA SEQ - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between YAC clones 854B1 and 940D11 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - 0 - DNA SEQ - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between YAC clones40D11 and 964H2 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - 0 - DNA SEQ - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10560458)_(10656087_?)del - 0.095 Mb deletion (10508458-10604087 NCBI35) - JAG1_000000 - PubMed: Kamath 2009 - - Unknown - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat1 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del 1.3MB del - JAG1_000000 - PubMed: Yuan 2001 - - De novo - - - 0 - DNA SEQ - - ALGS ? PubMed: Yuan 2001 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del entire gene deletion - JAG1_000000 - PubMed: Li 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS ? PubMed: Li 2015 - M - China - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del entire gene deletion - JAG1_000000 - PubMed: Li 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS ? PubMed: Li 2015 - F - China - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del entire gene deletion - JAG1_000000 - PubMed: Li 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS ? PubMed: Li 2015 - M - China - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown ACMG pathogenic (dominant) g.(?_10601004)_(13194264_?)del - gross deletion 10601004-13194264 - JAG1_000000 - PubMed: Ohashi 2017 - - Germline/De novo (untested) - - - 0 - DNA arrayCGH - - ALGS Pat21 PubMed: Ohashi 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown ACMG pathogenic (dominant) g.(?_9085395)_(11982624_?)del - gross deletion 9085395-11982624 - JAG1_000000 - PubMed: Ohashi 2017 - - Germline/De novo (untested) - - - 0 - DNA arrayCGH - - ALGS Pat22 PubMed: Ohashi 2017 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown ACMG pathogenic (dominant) g.(?_8821878)_(17500428_?)del - gross deletion 8821878-17500428 - JAG1_000000 - PubMed: Ohashi 2017 - - De novo - - - 0 - DNA arrayCGH - - ALGS Pat23 PubMed: Ohashi 2017 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.765C>R r.(?) p.(Tyr255*) Maternal (confirmed) - pathogenic (dominant) g.10633237G>Y g.10652589G>Y Y255X - JAG1_000652 - PubMed: Jung 2007 - - Germline - - - 0 - DNA SEQ - - ALGS ? PubMed: Jung 2007 - F - France - - 0 - - 1 Johan den Dunnen
+/. - c.770^771G>A r.(?) p.(Trp257*) Paternal (confirmed) - pathogenic (dominant) g.10633232^10633231C>T - W257X - JAG1_000653 - PubMed: Jung 2007 - - Germline - - - 0 - DNA SEQ - - ALGS ? PubMed: Jung 2007 - M - France - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_9685413)_(20253840)?)del - 10.57 Mb deletion (9685413-20253840) - JAG1_000508 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_9091235)_(15063679_?)del - 5.97 Mb deletion (9039235-15011679 NCBI35) - JAG1_000503 - PubMed: Kamath 2009 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat16 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10004874)_(14172443_?)del - 4.17 Mb deletion (9952874-14120443 NCBI35) - JAG1_000510 - PubMed: Kamath 2009 - - Unknown - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat13 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_5761024)_(14066276_?)del - 8.31 Mb deletion (5709024-14014276 NCBI35) - JAG1_000495 - PubMed: Kamath 2009 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat18 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10432766)_(13712393_?)del - 3.28 Mb deletion (10380766-13660393 NCBI35) - JAG1_000512 - PubMed: Kamath 2009 - - Unknown - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat9 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_8808310)_(13247568_?)del - 4.44 Mb deletion (8756310-13195568 NCBI35) - JAG1_000501 - PubMed: Kamath 2009 - - Unknown - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat14 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10360051)_(12798054_?)del - 2.44 Mb deletion (10308051-12746054 NCBI35) - JAG1_000511 - PubMed: Kamath 2009 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat6 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_7106353)_(12769237_?)del - 5.66 Mb deletion (7054353-12717237 NCBI35) - JAG1_000496 - PubMed: Kamath 2009 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat15 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_8573437)_(12418350_?)del - 3.84 Mb deletion (8521437-12366350 NCBI35) - JAG1_000499 - PubMed: Kamath 2009 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat10 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_9504468)_(12332526_?)del - 2.83 Mb deletion (9452468-12280526 NCBI35) - JAG1_000505 - PubMed: Kamath 2009 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat7 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_9251107)_(12214763_?)del - 2.96 Mb deletion (9251107-12214763) - JAG1_000504 - PubMed: Lin 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat17 PubMed: Lin 2012 - - - Viet Nam - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_8096130)_(12096897_?)del - 4.00 Mb deletion (8044130-12044897 NCBI35) - JAG1_000498 - PubMed: Kamath 2009 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat12 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_8865006)_(11896206_?)del - 3.03 Mb deletion (8813006-11844206 NCBI35) - JAG1_000502 - PubMed: Warthen 2006, PubMed: Kamath 2009 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat8 PubMed: Warthen 2006, PubMed: Kamath 2009 - - - - - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_8647519)_(11490289_?)del - 2.84 Mb deletion (8647519-11490289) - JAG1_000500 - PubMed: Lin 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat18 PubMed: Lin 2012 - - - Viet Nam - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_4039627)_(11442419_?)del - 7.40 Mb deletion (3987627-11390419 NCBI35) - JAG1_000494 - PubMed: Kamath 2009 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat17 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10523952)_(11385119_?)del - 861 Kb deletion (10523952-11385119) - JAG1_000514 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_7435615)_(11320829_?)del - 3.89 Mb deletion (7383615-11268829 NCBI35) - JAG1_000497 - PubMed: Kamath 2009 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat11 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Paternal (confirmed) - pathogenic g.(?_9525601)_(11079205_?)del - 1.55 Mb deletion (9473601-11027205 NCBI35) - JAG1_000506 - PubMed: Kamath 2009 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat4 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_9919383)_(10769877_?)del - 0.85 Mb deletion (9867383-10717877 NCBI35) - JAG1_000509 - PubMed: Laufer-Cahana 2002, PubMed: Kamath 2009 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat2 PubMed: Laufer-Cahana 2002, PubMed: Kamath 2009 - - - - - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_9562922)_(10743024_?)del - 1.18 Mb deletion (9510922-10691024 NCBI35) - JAG1_000507 - PubMed: Kamath 2009 - - Unknown - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS Pat3 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10402074)_(10658979_?)del - 257 Kb deletion (10402074-10658979) - JAG1_000513 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_2i c.516_387+1662{0} r.0? p.0? Unknown - pathogenic g.10651687_10659738del - deletion ex1-2 (c.5560_387+1662del) - JAG1_000491 - PubMed: Warthen 2006 - - Unknown - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Melissa Gilbert
+/. _1_2i c.-516_(387+1_388-1){0} r.0? p.0? Unknown - pathogenic g.(10644663_10653348)_(10654694_?)del - deletion ex1-2 - JAG1_000614 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, MLPA - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_2i c.-516_(387+1_388-1){0} r.0? p.0? Unknown - pathogenic g.(10644663_10653348)_(10654694_?)del - deletion ex1-2 - JAG1_000614 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, MLPA - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_23i c.-516_(2916+1_2917-1){0} r.0? p.0? Unknown - pathogenic g.(10621893_10622107)_(10654694_?)del - deletion ex1-23 - JAG1_000535 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, MLPA - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_25i c.-516_(3199+1_3200-1){2} r.? p.? Unknown - pathogenic g.(10644663_10653348)_(10654694_?)dup - duplication ex1-25 - JAG1_000520 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, MLPA - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - whole gene deletion - JAG1_000517 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, MLPA - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - whole gene deletion - JAG1_000517 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, MLPA - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - whole gene deletion - JAG1_000517 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, MLPA - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - whole gene deletion - JAG1_000517 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, MLPA - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. 1_1i c.-119_82-38del r.0? p.0? Unknown - pathogenic g.10653692_10654297del g.10673044_10673649del partial deletion ex1 - JAG1_000744 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
?/. - c.-100C>T r.(?) p.(=) Unknown - VUS g.10654278G>A g.10673630G>A - - JAG1_000734 - PubMed: Stalke 2018 - - Germline - - - 0 - DNA SEQ - - ALGS Fam26PatLP89 PubMed: Stalke 2018 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.(?_-97)_(*170_?)del r.0 p.0 Unknown ACMG pathogenic (dominant) g.(?_10619976)_(10654275_?)del - deletion 10619976-1065275 - JAG1_000746 - PubMed: Togawa 2016 - - De novo - - - 0 - DNA arrayCGH - - ALGS NCU10 PubMed: Togawa 2016 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. 1 c.-26_9del r.(?) p.0? Unknown - pathogenic (dominant) g.10654170_10654204del g.10673522_10673556del -26del35 - JAG1_000733 - PubMed: Guegan 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - TOF - PubMed: Guegan 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - - r.(?) p.(=) Unknown - VUS g.pter_(17900001_25600000)delins[NC_000001.10:g.pter_(92000001_94700000)] g.pter_(17900001_25700000)delins[NC_000001.11:g.pter_(91500001_94300000)] t(1;20)(p.22.1;p11.2) t(1;20)(p.22.1;p11.2) JAG1_000493 - PubMed: Warthen 2006 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Melissa Gilbert
?/. _1_26_ - r.(?) p.(=) Unknown - VUS g.[NC_000001.10:g.pter_(92000001_94700000)delinspter_(17900001_25600000) g.[NC_000001.11:g.pter_(91500001_94300000)]delinspter_(17900001_25700000) t(1;20)(p.22.1;p11.2) t(1;20)(p.22.1;p11.2) JAG1_000493 - PubMed: Warthen 2006 - - DUPLICATE record - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Melissa Gilbert
+/. _1_2i c.-516_(387+1_388-1){0} r.0 p.0 Unknown - pathogenic g.(10644663_10653348)_(10654694_?)del - deletion ex1-2 - JAG1_000614 - PubMed: Warthen 2006 - - Germline - - - 0 - DNA SEQ - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Maternal (confirmed) - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del - - JAG1_000000 detected using FISH (cosmid 3e9), mosaic in mother PubMed: Giannakudis 2001 - - Germline - - - 0 - DNA SEQ - - ALGS Fam4 PubMed: Giannakudis 2001 mother (mosaic) and affected son M - - - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del gene deletion - JAG1_000000 - PubMed: Rand 1995 - - Unknown - - - 0 - DNA SEQ, MLPA - - ALGS - PubMed: Rand 1995 - - - - - - 0 - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.10618332_10654694{0} g.10637684_10674046{0} - - JAG1_000000 600 kb deletion incl. JAG1 PubMed: Oda 1997 - - Germline - - - 0 - DNA FISH - - ALGS FamA PubMed: Oda 1997 - - - United States - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del - - JAG1_000000 1.3 Mb deletion PubMed: Yuan 1998 - - Germline - - - 0 - DNA PCR, Southern - - ALGS FamU3 PubMed: Yuan 1998 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Paternal (confirmed) - pathogenic (dominant) g.(?_9298889)_(11610454_?)del - 2.31 Mb deletion (9246889-11558454 NCBI35) - JAG1_000000 - PubMed: Kamath 2009 - - Germline - - - 0 - DNA arrayCGH - - ALGS Pat5 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_7370428)_(21985498_?)del - 12.96 Mb deletion (7318428-21933498 NCBI35) - JAG1_000000 - PubMed: Kamath 2009 - - De novo - - - 0 - DNA arrayCGH - - ALGS Pat21 PubMed: Kamath 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. _1_3i c.-518_(439+768_?){1} r.? p.? Unknown - pathogenic g.(?_10643843)_(11323281_?)inv - inversion (10663195-11342633 hg38?) - JAG1_000745 - PubMed: Gilbert 2019, Journal: Gilbert 2019, Rajagopalan in prep. - - Unknown - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019, Rajagopalan in prep. - - - United States - - 0 - - 1 Melissa Gilbert
?/. - c.? r.? p.? Unknown - VUS g.pter_(5100001_17900000)delins[NC_000002.11:g.(135100001_136800000)_qterinv] g.pter_(5100001_17900000)delins[NC_000002.12:g.(134300001_136100000)_qterinv] t(2;20)(q21.3;p12) 46,XX, t(2;20)(q21.3;p12) JAG1_000492 - PubMed: Spinner 1994, PubMed: Kamath 2009 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS - PubMed: Spinner 1994, PubMed: Kamath 2009 - - - - - - 0 - - 1 Melissa Gilbert
?/. - c.? r.? p.? Unknown - VUS g.[NC_000002.11:g.(135100001_136800000)_qter]delinspter_(5100001_17900000)inv g.[NC_000002.12:g.(134300001_136100000)_qter]delinspter_(5100001_17900000)inv t(2;20)(q21.3;p12) 46,XX, t(2;20)(q21.3;p12) JAG1_000492 - PubMed: Spinner 1994, PubMed: Kamath 2009 - - DUPLICATE record - - - 0 - DNA SEQ, SEQ-NG-I - - ALGS - PubMed: Spinner 1994, PubMed: Kamath 2009 - - - - - - 0 - - 1 Melissa Gilbert
+/. - c.3G>A r.(?) p.0? Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. 1 c.3_4delinsTT r.(?) p.0? Unknown - pathogenic (dominant) g.10654175_10654176delinsAA g.10673527_10673528delinsAA - - JAG1_000151 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA PCR - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - - - - 0 - - 1 Melissa Gilbert
+/. 1 c.3_4delinsTT r.(?) p.0? Unknown - pathogenic g.10654175_10654176delinsAA g.10673527_10673528delinsAA 3GC>TT - JAG1_000151 - PubMed: Colliton 2001 - - De novo - - - 0 - DNA SEQ - - ALGS - PubMed: Colliton 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.11dup r.(?) p.(Arg5Thrfs*68) Unknown - pathogenic (dominant) g.10654168dup g.10673520dup - - JAG1_000150 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA PCR - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. 1 c.30_36delinsACTCGGGA r.(?) p.(Gly11Leufs*62) Unknown - pathogenic (dominant) g.10654143_10654149delinsTCCCGAGT g.10673495_10673501delinsTCCCGAGT 30CGGGCGC>ACTCGGGA - JAG1_000448 - PubMed: Crosnier 2000 - - De novo - - - 0 - DNA SEQ - - ALGS A265 PubMed: Crosnier 2000 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.30_36delinsACTCGGGA r.30_36delinsacucggga p.Gly11Leufs*62 Unknown - pathogenic (dominant) g.10654143_10654149delinsTCCCGAGT g.10673495_10673501delinsTCCCGAGT 30CGGGCGC>ACTCGGGA - JAG1_000448 - PubMed: Boyer 2005 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS A265 PubMed: Boyer 2005 - - - France - - 0 - - 1 Johan den Dunnen
+/. 1 c.40del r.(?) p.(Leu14*) Unknown - pathogenic (dominant) g.10654139del g.10673491del 40delC - JAG1_000447 - PubMed: Crosnier 2000 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS A265 PubMed: Crosnier 2000 - - - France - - 0 - - 1 Johan den Dunnen
+/. 1 c.41del r.(?) p.(Leu14Glnfs*32) Unknown - pathogenic g.10654138del g.10673490del 454delT - JAG1_000446 - PubMed: Crosnier 1999 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS A177 PubMed: Crosnier 1999 - - - France - - 0 - - 1 Johan den Dunnen
+/. 1 c.50T>C r.(?) p.(Leu17Pro) Unknown - pathogenic g.10654129A>G g.10673481A>G - - JAG1_000149 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA PCR - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. 1 c.53_73del r.(?) p.(Leu18_Leu24del) Unknown - pathogenic g.10654106_10654126del g.10673458_10673478del - - JAG1_000143 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA PCR - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
+/. - c.53_73del r.(?) p.(Leu18_Leu24del) Unknown - pathogenic (dominant) g.10654106_10654126del g.10673458_10673478del 48_68del21 - JAG1_000143 - PubMed: Colliton 2001 - - De novo - - - 0 - DNA SEQ - - ALGS - PubMed: Colliton 2001 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.59T>C r.(?) p.(Leu20Pro) Unknown - pathogenic g.10654120A>G g.10673472A>G - - JAG1_000147 - PubMed: Gilbert 2019, Journal: Gilbert 2019, Rajagopalan in prep. - - Unknown - - - 0 - DNA PCR - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019, Rajagopalan in prep. - - - United States - - 0 - - 1 Melissa Gilbert
+/. 1 c.59T>C r.(?) p.(Leu20Pro) Unknown - pathogenic (dominant) g.10654120A>G g.10673472A>G L20P - JAG1_000147 - PubMed: Guegan 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - TOF - PubMed: Guegan 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 1 c.59T>G r.(?) p.(Leu20Arg) Maternal (confirmed) - likely pathogenic g.10654120A>C g.10673472A>C - - JAG1_000148 - - - - Germline - - - 0 - DNA PCR - - ALGS - - - - - United States - - 0 - - 1 Melissa Gilbert
+/. - c.59T>G r.(?) p.(Leu20Arg) Maternal (confirmed) - pathogenic (dominant) g.10654120A>C g.10673472A>C - - JAG1_000148 - PubMed: Izumi 2016 - - Germline - - - 0 - DNA SEQ - - ALGS family PubMed: Izumi 2016 mother and affected twins - - Japan - - 0 - - 1 Johan den Dunnen
+?/. 1 c.63_74del r.(?) p.(Cys22_Arg25del) Maternal (confirmed) - pathogenic g.10654105_10654116del g.10673457_10673468del - - JAG1_000142 maternally-inherited PubMed: Warthen 2006 - - Germline - - - 0 - DNA PCR - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Melissa Gilbert
+?/. 1 c.64T>C r.(?) p.(Cys22Arg) Unknown - likely pathogenic (dominant) g.10654115A>G g.10673467A>G - - JAG1_000146 - PubMed: Lin 2012 - - Germline/De novo (untested) - - - 0 - DNA PCR - - ALGS Pat1 PubMed: Lin 2012 - - - Viet Nam - - 0 - - 1 Melissa Gilbert
+/. 1 c.65del r.(?) p.(Cys22Leufs*24) Unknown - pathogenic (dominant) g.10654114del g.10673466del 65delG - JAG1_000732 - PubMed: Li 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS ? PubMed: Li 2015 - M - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.66_67del r.(?) p.(Ala23Profs*49) Unknown - pathogenic g.10654112_10654113del g.10673464_10673465del 66_67delTG - JAG1_000145 - PubMed: Colliton 2001 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS - PubMed: Colliton 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.68_69delinsG r.(?) p.(Ala23GlyfsTer23) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.70del r.(?) p.(Leu24Cysfs*22) Unknown - pathogenic g.10654109del g.10673461del 68delC - JAG1_000144 - PubMed: Colliton 2001 - - De novo - - - 0 - DNA SEQ - - ALGS - PubMed: Colliton 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.73C>T r.(?) p.(Arg25*) Unknown - pathogenic g.10654106G>A g.10673458G>A 486C>T - JAG1_000445 - PubMed: Crosnier 1999 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS A50n PubMed: Crosnier 1999 - - - France - - 0 - - 1 Johan den Dunnen
+/. 1 c.73_81+3del r.spl p.? Unknown - pathogenic g.10654095_10654106del g.10673447_10673458del 486del12 - JAG1_000443 - PubMed: Heritage 2000 - - De novo - - - 0 - DNA SEQ - - ALGS Pat2-2-1 PubMed: Heritage 2000 - - - Australia - - 0 - - 1 Johan den Dunnen
+/. - c.81+1G>A r.spl p.? Unknown - pathogenic g.10654097C>T g.10673449C>T - - JAG1_000141 - PubMed: Warthen 2006 - - Unknown - - - 0 - DNA, RNA PCR - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Melissa Gilbert
+/. - c.82-7_96del r.spl p.? Unknown - pathogenic (dominant) g.10653640_10653661del g.10672992_10673013del 82-7del22 - JAG1_000739 - PubMed: Crosnier 2000 - - De novo - - - 0 - DNA SEQ - - ALGS A287 PubMed: Crosnier 2000 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.82-6C>A r.81_82insgcag p.? Unknown - pathogenic (dominant) g.10653660G>T g.10673012G>T CM030050 - JAG1_000639 - PubMed: Vázquez-Martínez 2014 - - Germline/De novo (untested) - - - 0 - DNA, RNA RT-PCR, SEQ - - ALGS Pat1 PubMed: Vázquez-Martínez 2014 - - - Mexico - - 0 - - 1 Johan den Dunnen
+/. - c.82-2A>G r.spl p.? Paternal (confirmed) - pathogenic (dominant) g.10653656T>C g.10673008T>C 495-2A>G - JAG1_000641 - PubMed: Ropke 2003 - - Germline - - - 0 - DNA SEQ - - ALGS Pat17 PubMed: Ropke 2003 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 2 c.84del r.(?) p.(Cys29Valfs*17) Unknown - pathogenic (dominant) g.10653652del g.10673004del 497delG - JAG1_000442 - PubMed: Ropke 2003 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ALGS Pat34 PubMed: Ropke 2003 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 2 c.92C>T r.(?) p.(Ala31Val) Paternal (confirmed) - pathogenic (dominant) g.10653644G>A g.10672996G>A 505C>T - JAG1_000441 - PubMed: Ropke 2003 - - Germline - - - 0 - DNA SEQ - - ALGS Pat27 PubMed: Ropke 2003 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 2 c.97G>A r.(?) p.(Gly33Ser) Unknown - pathogenic g.10653639C>T g.10672991C>T - - JAG1_000139 - PubMed: Warthen 2006 - - Germline - - - 0 - DNA SEQ - - ALGS - PubMed: Warthen 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.97G>C r.(?) p.(Gly33Arg) Unknown - pathogenic g.10653639C>G g.10672991C>G - - JAG1_000140 - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - Unknown - - - 0 - DNA PCR - - ALGS - PubMed: Gilbert 2019, Journal: Gilbert 2019 - - - United States - - 0 - - 1 Melissa Gilbert
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