Full data view for gene MEN1

Information The variants shown are described using the NM_001370259.2 transcript reference sequence.

830 entries on 9 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9     Next › Last »

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     
?/. - c.-22C>A r.(?) p.(=) Unknown - VUS g.64577603G>T - MEN1(NM_000244.3):c.-22C>A, MEN1(NM_130803.2):c.-22C>A - MEN1_000734 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Tanaka 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Tanaka 1998 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Toliat 1997 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Toliat 1997 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Giraud 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Giraud 1998 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Giraud 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Giraud 1998 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Giraud 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Giraud 1998 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Teh 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Teh 1998 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Mayr 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Mayr 1998 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Poncin 1999 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Poncin 1999 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Gortz 1999 - - Germline - - - - - DNA SEQ - - ? ? PubMed: Gortz 1999 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Mutch 1999 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Mutch 1999 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Mutch 1999 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Mutch 1999 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Martin-Campos 1999 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Martin-Campos 1999 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Morelli 2000 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Morelli 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Hai 2000 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Hai 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Hai 2000 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Hai 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Roijers 2000 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Roijers 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Roijers 2000 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Roijers 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Burgess 2000 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Burgess 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Jakobovitz-Picard 2000 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Jakobovitz-Picard 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Jakobovitz-Picard 2000 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Jakobovitz-Picard 2000 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Pannett 2001 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Pannett 2001 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Verges 2002 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Verges 2002 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Crepin 2003 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Crepin 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Tso 2003 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Tso 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Carrasco 2004 - - Germline - - - - - DNA SEQ - - HPT ? PubMed: Carrasco 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Balogh 2004 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Balogh 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Ellard 2005 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Ellard 2005 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Dreijerink 2005 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Dreijerink 2005 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Jager 2006 - - Germline - - - - - DNA SEQ - - HPT ? PubMed: Jager 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Jager 2006 - - Germline - - - - - DNA SEQ - - HPT ? PubMed: Jager 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Jager 2006 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Jager 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Tala 2006 - - Germline - - - - - DNA SEQ - - HPT ? PubMed: Tala 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Odou 2006 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Odou 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - - - DRD4_000002 - PubMed: Lemos 2007 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Lemos 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1A>G r.(?) p.(Met1?) Parent #1 - pathogenic g.64577581T>C g.64810109T>C - - MEN1_000054 - PubMed: Villablanca 2002 - - Germline - - - - - DNA SEQ - - HPT ? PubMed: Villablanca 2002 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1A>G r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.64577581T>C g.64810109T>C Met1Val - MEN1_000054 - PubMed: Klein 2005 - - Germline - - - - - DNA SEQ - - MEN1 15714081-Pat PubMed: Klein 2005 - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.13_15delinsACGCT r.(?) p.(Ala5ThrfsTer115) Parent #1 - pathogenic g.64577567_64577569delinsAGCGT g.64810095_64810097delinsAGCGT 13_15delGCCinsACGCT - MEN1_000557 - PubMed: Cardinal 2005 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Cardinal 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.15_28del r.(?) p.(Ala6ValfsTer106) Parent #1 - pathogenic g.64577556_64577569del g.64810084_64810097del 15_28delCGCCCAGAAGACGC - MEN1_000556 - PubMed: Schaaf 2007 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Schaaf 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.35C>T r.(?) p.(Pro12Leu) Parent #1 - pathogenic g.64577547G>A g.64810075G>A - - MEN1_000555 - PubMed: Agarwal 1997 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Agarwal 1997 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.65T>G r.(?) p.(Leu22Arg) Parent #1 - pathogenic g.64577517A>C g.64810045A>C - - MEN1_000554 - PubMed: Chandrasekharappa 1997 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Chandrasekharappa 1997 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.69del r.(?) p.(Phe23LeufsTer96) Parent #1 - pathogenic g.64577515del g.64810043del 69delT - MEN1_000553 - PubMed: Wautot 2002 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Wautot 2002 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.74_88del r.(?) p.(Ala25_Arg29del) Parent #1 - pathogenic g.64577495_64577509del g.64810023_64810037del 74_88delCCGAGCTGGGCCGAG - MEN1_000545 - PubMed: Cardinal 2005 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Cardinal 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.76G>A r.(?) p.(Glu26Lys) Parent #1 - pathogenic g.64577506C>T g.64810034C>T - - MEN1_000551 - PubMed: Bartsch 1998 - rs28931612 Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Bartsch 1998 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.76G>T r.(?) p.(Glu26Ter) Parent #1 - pathogenic g.64577506C>A g.64810034C>A - - MEN1_000552 - PubMed: Jager 2006 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Jager 2006 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.76_78delinsAAA r.(?) p.(Glu26Lys) Parent #1 - pathogenic g.64577504_64577506delinsTTT g.64810032_64810034delinsTTT 76_78delGAGinsAAA - MEN1_000550 - PubMed: Ellard 2005 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Ellard 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.80T>C r.(?) p.(Leu27Pro) Parent #1 - pathogenic g.64577502A>G g.64810030A>G - - MEN1_000549 - PubMed: Wenzel 2009 - - Germline - - - - - DNA SEQ - - ? ? PubMed: Wenzel 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.83del r.(?) p.(Gly28AlafsTer91) Parent #1 - pathogenic g.64577501del g.64810029del 83delG - MEN1_000547 - PubMed: Ellard 2005 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Ellard 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.83G>C r.(?) p.(Gly28Ala) Parent #1 - pathogenic g.64577499C>G g.64810027C>G - - MEN1_000548 - PubMed: Balogh 2005 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Balogh 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.85C>T r.(?) p.(Arg29Ter) Parent #1 - pathogenic g.64577497G>A g.64810025G>A - - MEN1_000546 - PubMed: Sato 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Sato 1998 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.85C>T r.(?) p.(Arg29Ter) Parent #1 - pathogenic (recessive) g.64577497G>A g.64810025G>A C>T (29) - MEN1_000546 - PubMed: Klein 2005 - - Germline - - - - - DNA SEQ - - MEN1 15714081-Pat PubMed: Klein 2005 2 unrelated families - - United States - - - - - 2 Johan den Dunnen
+/. 2 c.88G>T r.(?) p.(Glu30Ter) Parent #1 - pathogenic g.64577494C>A g.64810022C>A - - MEN1_000544 - PubMed: Langer 2002 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Langer 2002 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.89_90del r.(?) p.(Glu30GlyfsTer86) Parent #1 - pathogenic g.64577495_64577496del g.64810023_64810024del 89_90delAG - MEN1_000543 - PubMed: Hasani-Ranjbar 2011 - - Germline - - - - - DNA SEQ - - ? ? PubMed: Hasani-Ranjbar 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.94C>T r.(?) p.(Pro32Ser) Parent #1 - NA g.64577488G>A g.64810016G>A chr11_64577488_G_A - MEN1_000727 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.94C>T r.(?) p.(Pro32Ser) Parent #1 - NA g.64577488G>A g.64810016G>A chr11_64577488_G_A - MEN1_000727 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.95C>T r.(?) p.(Pro32Leu) Parent #1 - NA g.64577487G>A g.64810015G>A chr11_64577487_G_A - MEN1_000726 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.100C>A r.(?) p.(Leu34Met) Parent #1 - NA g.64577482G>T g.64810010G>T chr11_64577482_G_T - MEN1_000725 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
+/. 2 c.108_122dup r.(?) p.(Leu37_Leu41dup) Parent #1 - pathogenic g.64577467_64577481dup g.64809995_64810009dup 108_122dupCCTTTCCTTGGTGCT - MEN1_000539 - PubMed: Bassett 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Bassett 1998 - - - - - - - - - 1 Johan den Dunnen
?/. - c.110T>C r.(?) p.(Leu37Pro) Parent #1 - NA g.64577472A>G g.64810000A>G chr11_64577472_A_G - MEN1_000724 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. 2 c.112del r.(?) p.(Ser38ProfsTer81) Parent #1 - pathogenic g.64577472del g.64810000del 112delT - MEN1_000541 - PubMed: Roijers 2000 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Roijers 2000 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.112T>C r.(?) p.(Ser38Pro) Parent #1 - pathogenic g.64577470A>G g.64809998A>G - - MEN1_000542 - PubMed: Tham 2007 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Tham 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.116T>G r.(?) p.(Leu39Trp) Parent #1 - pathogenic g.64577466A>C g.64809994A>C - - MEN1_000540 - PubMed: Poncin 1999 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Poncin 1999 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.125G>A r.(?) p.(Gly42Asp) Parent #1 - pathogenic g.64577457C>T g.64809985C>T - - MEN1_000538 - PubMed: Bassett 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Bassett 1998 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.129_131del r.(?) p.(Phe43_Val44delinsLeu) Parent #1 - pathogenic g.64577452_64577454del g.64809980_64809982del 129_131delCGT - MEN1_000537 - PubMed: Cebrian 1999 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Cebrian 1999 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.133G>A r.(?) p.(Glu45Lys) Parent #1 - pathogenic g.64577449C>T g.64809977C>T - - MEN1_000535 - PubMed: Morelli 2000 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Morelli 2000 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.133G>C r.(?) p.(Glu45Gln) Parent #1 - pathogenic g.64577449C>G g.64809977C>G - - MEN1_000536 - PubMed: Ellard 2005 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Ellard 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.134A>C r.(?) p.(Glu45Ala) Parent #1 - pathogenic g.64577448T>G g.64809976T>G - - MEN1_000533 - PubMed: Ellard 2005 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Ellard 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.134A>G r.(?) p.(Glu45Gly) Parent #1 - pathogenic g.64577448T>C g.64809976T>C - - MEN1_000532 - PubMed: Sato 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Sato 1998 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.134A>T r.(?) p.(Glu45Val) Parent #1 - pathogenic g.64577448T>A g.64809976T>A - - MEN1_000534 - PubMed: Griniatsos 2011 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Griniatsos 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.135G>C r.(?) p.(Glu45Asp) Parent #1 - pathogenic g.64577447C>G g.64809975C>G - - MEN1_000531 - PubMed: Kihara 2009 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Kihara 2009 - - - - - - - - - 1 Johan den Dunnen
?/. - c.140T>A r.(?) p.(Phe47Tyr) Parent #1 - NA g.64577442A>T g.64809970A>T chr11_64577442_A_T - MEN1_000723 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. 2 c.140_141del r.(?) p.(Phe47SerfsTer69) Parent #1 - pathogenic g.64577443_64577444del g.64809971_64809972del 140_141delTT - MEN1_000530 - PubMed: Tso 2003 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Tso 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.140_143del r.(?) p.(Phe47TrpfsTer71) Parent #1 - pathogenic g.64577440_64577443del g.64809968_64809971del 140_143delTTCT - MEN1_000529 - PubMed: Schaaf 2007 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Schaaf 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.145_146delinsTT r.(?) p.(Ala49Phe) Parent #1 - pathogenic g.64577436_64577437delinsAA g.64809964_64809965delinsAA 145_146delGCinsTT - MEN1_000528 - Perez de Nanclares 2001 - - Germline - - - - - DNA SEQ - - MEN1 ? Perez de Nanclares 2001 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.149del r.(?) p.(Val50AlafsTer69) Parent #1 - pathogenic g.64577433del g.64809961del 149delT - MEN1_000527 - PubMed: Jiang 2007 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Jiang 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.154C>G r.(?) p.(Arg52Gly) Parent #1 - pathogenic g.64577428G>C g.64809956G>C - - MEN1_000526 - PubMed: Hou 2011 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Hou 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.165delinsGG r.(?) p.(Thr56AspfsTer61) Parent #1 - pathogenic g.64577417delinsCC g.64809945delinsCC 165delTinsGG - MEN1_000525 - PubMed: Mayr 1997 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Mayr 1997 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.165_166insG r.(?) p.(Thr56AspfsTer61) Parent #1 - pathogenic g.64577416_64577417insC g.64809944_64809945insC - - MEN1_000524 - PubMed: Mayr 1997 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Mayr 1997 - - - - - - - - - 1 Johan den Dunnen
?/. - c.171C>A r.(?) p.(Asn57Lys) Parent #1 - NA g.64577411G>T g.64809939G>T chr11_64577411_G_T - MEN1_000722 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.171C>A r.(?) p.(Asn57Lys) Parent #1 - NA g.64577411G>T g.64809939G>T chr11_64577411_G_T - MEN1_000722 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. 2 c.177del r.(?) p.(Glu60SerfsTer59) Parent #1 - pathogenic g.64577407del g.64809935del 177delC - MEN1_000523 - PubMed: Verges 2002 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Verges 2002 - - - - - - - - - 1 Johan den Dunnen
?/. - c.179A>G r.(?) p.(Glu60Gly) Parent #1 - NA g.64577403T>C g.64809931T>C chr11_64577403_T_C - MEN1_000721 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.189C>G r.(?) p.(Phe63Leu) Parent #1 - NA g.64577393G>C g.64809921G>C chr11_64577393_G_C - MEN1_000720 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
+/. 2 c.190C>T r.(?) p.(Gln64Ter) Parent #1 - pathogenic g.64577392G>A g.64809920G>A - - MEN1_000522 - PubMed: Langer 2002 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Langer 2002 - - - - - - - - - 1 Johan den Dunnen
?/. - c.191A>G r.(?) p.(Gln64Arg) Parent #1 - NA g.64577391T>C g.64809919T>C chr11_64577391_T_C - MEN1_000719 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. 2 c.191_200dup r.(?) p.(Pro69GlnfsTer51) Parent #1 - pathogenic g.64577384_64577393dup g.64809912_64809921dup 191_200dupAGCCCAGCCC - MEN1_000520 - PubMed: Bassett 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Bassett 1998 - - - - - - - - - 1 Johan den Dunnen
?/. - c.194C>T r.(?) p.(Pro65Leu) Parent #1 - NA g.64577388G>A g.64809916G>A chr11_64577388_G_A - MEN1_000718 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. 2 c.196_200dup r.(?) p.(Asp70ProfsTer51) Parent #1 - pathogenic g.64577389_64577393dup g.64809917_64809921dup - - MEN1_000001 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 2 c.196_200dup r.(?) p.(Asp70ProfsTer51) Parent #1 - pathogenic g.64577389_64577393dup g.64809917_64809921dup - - MEN1_000001 - - - - Germline - - - - - DNA SEQ - - MEN1 - - - - - Germany - - - - - 1 Andreas Laner
+/. 2 c.196_200dup r.(?) p.(Asp70ProfsTer51) Parent #1 - pathogenic g.64577389_64577393dup g.64809917_64809921dup ex2 200-201 insAGCCC - MEN1_000001 - Journal: Sung 2006 - - Germline yes - - - - DNA SEQ - - MEN1 - Journal: Sung 2006 3-generation family, affected father, sister and son M no Korea - - - - - 3 Johan den Dunnen
+/. 2 c.196_200dup r.(?) p.(Asp70ProfsTer51) Unknown - pathogenic g.64577389_64577393dup g.64809917_64809921dup codon 67 310dup5-ter120 - MEN1_000001 - PubMed: Giraud 1998, Journal: Giraud 1998 - - Germline ? 1/54 families - - - DNA SEQ - - MEN1 - PubMed: Giraud 1998, Journal: Giraud 1998 - ? ? France - - - - - 1 Johan den Dunnen
+/. 2 c.196_200dup r.(?) p.(Asp70ProfsTer51) Parent #1 - pathogenic g.64577389_64577393dup g.64809917_64809921dup 196_200dupAGCCC - MEN1_000001 - PubMed: Giraud 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Giraud 1998 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.196_200dup r.(?) p.(Asp70ProfsTer51) Parent #1 - pathogenic (dominant) g.64577389_64577393dup g.64809917_64809921dup dupAGCCC - MEN1_000001 - PubMed: Klein 2005 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Klein 2005 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.196_200dup r.(?) p.(Asp70Profs*51) Unknown - pathogenic g.64577389_64577393dup - MEN1(NM_130799.2):c.196_200dupAGCCC (p.D70Pfs*51) - MEN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.197delinsAA r.(?) p.(Ser66LysfsTer51) Parent #1 - pathogenic g.64577385delinsTT g.64809913delinsTT 197delGinsAA - MEN1_000521 - PubMed: Bartsch 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Bartsch 1998 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.199_208dup r.(?) p.(Asp70AlafsTer50) Parent #1 - pathogenic g.64577374_64577383dup g.64809902_64809911dup 199_208dupCCCGCCCCCG - MEN1_000514 - PubMed: Turner 2010 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Turner 2010 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.200_201insG r.(?) p.(Ala68ArgfsTer49) Parent #1 - pathogenic g.64577381_64577382insC g.64809909_64809910insC - - MEN1_000519 - PubMed: Wautot 2002 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Wautot 2002 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.201del r.(?) p.(Ala68ProfsTer51) Parent #1 - pathogenic g.64577384del g.64809912del 201delC - MEN1_000518 - PubMed: Toledo 2007 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Toledo 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.202dup r.(?) p.(Ala68GlyfsTer49) Parent #1 - pathogenic g.64577380dup g.64809908dup 202dupG - MEN1_000517 - PubMed: Teh 1998 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Teh 1998 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.202_206dup r.(?) p.(Asp70ProfsTer51) Parent #1 - pathogenic g.64577381_64577385dup g.64809909_64809913dup 202_206dupGCCCC - MEN1_000516 - PubMed: Mayr 1997 - - Germline - - - - - DNA SEQ - - MEN1 ? PubMed: Mayr 1997 - - - - - - - - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.