All variants in the CDH1 gene


Information The variants shown are described using the NM_004360.3 transcript reference sequence.

1251 entries on 13 pages. Showing entries 1 - 100.
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Effect     

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 c.-472delA r.(=) p.(=) - pathogenic g.68770847del g.68736944del -347G>GA - CDH1_000079 expression cloning significantly increased promoter activity PubMed: Shin 2004 - - Germline - - - 0 - Johan den Dunnen
-/. _1 c.-472delA r.(=) p.(=) - benign g.68770847del g.68736944del -472G/GA - CDH1_000079 expression cloning normal activity in luciferase promoter construct PubMed: Nakamura 2002 - - Germline - - - 0 - Johan den Dunnen
+/. _1 c.-288delT r.(=) p.(=) - pathogenic g.68771031del g.68737128del - - CDH1_000078 expression cloning 0.8 activity in luciferase promoter construct PubMed: Nakamura 2002 - - Germline - - - 0 - Johan den Dunnen
+/. _1 c.-285C>A r.(=) p.(=) - pathogenic g.68771034C>A g.68737131C>A - - CDH1_000077 expression cloning 0.66 activity in luciferase promoter construct PubMed: Nakamura 2002 - - Germline - - - 0 - Johan den Dunnen
?/. _1 c.-126_-125delinsAA r.(=) p.(=) - VUS g.68771193_68771194delinsAA g.68737290_68737291delinsAA -124-5_6delinsAA - CDH1_000149 not in 609 Brazilian controls PubMed: Brito 2015, Journal: Brito 2015 - - Germline - 1/196 cases - 0 - Maria Rita Passos-Bueno
?/. 1 c.-84G>A r.(=) p.(=) - VUS g.68771235G>A g.68737332G>A - - CDH1_000132 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - Maria Rita Passos-Bueno
?/. 1 c.-71C>G r.(=) p.(=) - VUS g.68771248C>G g.68737345C>G - - CDH1_000128 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - Maria Rita Passos-Bueno
?/. 1 c.-71C>G r.(=) p.(=) - VUS g.68771248C>G g.68737345C>G - - CDH1_000128 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - Maria Rita Passos-Bueno
?/. 1 c.-71C>G r.(=) p.(=) - VUS g.68771248C>G g.68737345C>G - - CDH1_000128 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - Maria Rita Passos-Bueno
?/. 1 c.-71C>G r.(=) p.(=) - VUS g.68771248C>G g.68737345C>G - - CDH1_000128 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - 16/1218 chromosomes - 0 - Maria Rita Passos-Bueno
?/. 1 c.-64G>T r.(=) p.(=) - VUS g.68771255G>T g.68737352G>T - - CDH1_000097 - - - - Germline - - - 0 - Andreas Laner
+/. 1 c.-54G>C r.(=) p.(=) - pathogenic g.68771265G>C g.68737362G>C - - CDH1_000076 expression cloning 0.66 activity in luciferase promoter construct PubMed: Nakamura 2002 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.-54G>C r.(?) p.(=) - likely benign g.68771265G>C g.68737362G>C - - CDH1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-29C>G r.(?) p.(=) - likely benign g.68771290C>G - - - CDH1_000388 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.3G>A r.(?) p.(Met1?) - pathogenic g.68771321G>A g.68737418G>A - - CDH1_000197 - PubMed: Pandalai 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.3G>C r.(?) p.(Met1?) - pathogenic g.68771321G>C g.68737418G>C M1I - CDH1_000060 - PubMed: Suriano 2005 - - Unknown - - - 0 - Johan den Dunnen
?/. 1 c.22C>T r.(?) p.(Leu8Phe) - VUS g.68771340C>T g.68737437C>T - - CDH1_000196 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - Yukihide Momozawa
-?/. - c.27G>A r.(?) p.(Ser9=) - likely benign g.68771345G>A g.68737442G>A CDH1(NM_004360.3):c.27G>A (p.S9=) - CDH1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.27G>A r.(?) p.(Ser9=) - likely benign g.68771345G>A - CDH1(NM_004360.3):c.27G>A (p.S9=) - CDH1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 c.41del r.(?) p.(Leu14Argfs*42) - pathogenic g.68771359del g.68737456del - - CDH1_000061 - PubMed: Bacani 2006 - - Germline - - - 0 - Global Variome, with Curator vacancy
-?/. - c.41_46dup r.(?) p.(Leu14_Leu15dup) - likely benign g.68771359_68771364dup g.68737456_68737461dup CDH1(NM_004360.3):c.41_46dupTGCTGC (p.L14_L15dup) - CDH1_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.44dup r.(?) p.(Gln16Alafs*18) - pathogenic g.68771362dup g.68737459dup - - CDH1_000062 - PubMed: Oliveira 2002 - - Germline - - - 0 - Global Variome, with Curator vacancy
-?/. - c.44_46del r.(?) p.(Leu15del) - likely benign g.68771362_68771364del g.68737459_68737461del CDH1(NM_004360.3):c.44_46delTGC (p.L15del) - CDH1_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1i c.48+1G>A r.spl? p.? ACMG pathogenic g.68771367G>A g.68737464G>A - - CDH1_000195 ACMG grading: PVS1, PM2, PP5 (=class 5) - - - Germline ? - - 0 - Andreas Laner
+/. 1i c.48+1G>A r.spl p.? - pathogenic g.68771367G>A g.68737464G>A IVS1+1G>A - CDH1_000195 - PubMed: Pandalai 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 1i c.48+1G>A r.spl? p.? - pathogenic g.68771367G>A g.68737464G>A - - CDH1_000195 - PubMed: Petridis 2014 - - Germline - - - 0 - Johan den Dunnen
-/. - c.48+5C>G r.spl? p.? - benign g.68771371C>G g.68737468C>G CDH1(NM_004360.3):c.48+5C>G - CDH1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.48+5C>G r.spl? p.? - likely benign g.68771371C>G g.68737468C>G CDH1(NM_004360.3):c.48+5C>G - CDH1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.48+5C>G r.spl? p.? - benign g.68771371C>G g.68737468C>G CDH1(NM_004360.3):c.48+5C>G - CDH1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.48+6C>T r.(=) p.(=) - benign g.68771372C>T g.68737469C>T CDH1(NM_004360.3):c.48+6C>T - CDH1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.48+6C>T r.(=) p.(=) - benign g.68771372C>T g.68737469C>T CDH1(NM_004360.3):c.48+6C>T - CDH1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.48+6C>T r.(=) p.(=) - benign g.68771372C>T g.68737469C>T CDH1(NM_004360.3):c.48+6C>T - CDH1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.48+6C>T r.(?) p.(=) - benign g.68771372C>T g.68737469C>T - - CDH1_000159 - - - - Germline - - - 0 - Carlos Vaccaro
-/. 1i c.48+6C>T r.(?) p.(=) - benign g.68771372C>T g.68737469C>T - - CDH1_000159 - - - - Germline - - - 0 - Maximiliano Zeballos
-/. 1i c.48+6C>T r.(?) p.(=) - benign g.68771372C>T g.68737469C>T - - CDH1_000159 - - - - Germline - - - 0 - Maximiliano Zeballos
-/. 1i c.48+6C>T r.(?) p.(=) - benign g.68771372C>T g.68737469C>T - - CDH1_000159 - - - - Germline - - - 0 - Maximiliano Zeballos
-/. 1i c.48+6C>T r.(?) p.(=) - benign g.68771372C>T g.68737469C>T - - CDH1_000159 - - - - Germline - - - 0 - Maximiliano Zeballos
-?/. 1i c.48+7C>G r.(=) p.(=) - likely benign g.68771373C>G g.68737470C>G - - CDH1_000133 conservation, in silico analysis: IARC-2 likely not pathogenic - - - Unknown ? - - 0 - Pränatalmedizin & Genetik MVZ Nürnberg
?/. 1i c.48+22G>A r.(=) p.(=) - VUS g.68771388G>A g.68737485G>A - - CDH1_000129 not in 609 Brazilian controls PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - Maria Rita Passos-Bueno
?/. - c.49-2A>C r.spl? p.? - NA g.68772198A>C - chr16_68772198_A_C - CDH1_000389 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 - 0 - BRIDGES consortium
+/. 2 c.54del r.(?) p.(Ser19Leufs*37) - pathogenic g.68772205del g.68738302del - - CDH1_000065 - PubMed: Humar 2002 - - Germline - - - 0 - Global Variome, with Curator vacancy
?/. - c.56C>T r.(?) p.(Ser19Phe) - NA g.68772207C>T - chr16_68772207_C_T - CDH1_000390 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 - 0 - BRIDGES consortium
+/. 2 c.59G>A r.(?) p.(Trp20*) - pathogenic g.68772210G>A g.68738307G>A - - CDH1_000067 - PubMed: Richards 1999, OMIM:var0009 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. - c.60G>A r.(?) p.(Trp20*) - pathogenic g.68772211G>A g.68738308G>A - - CDH1_000376 2 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786203576 Germline - 2/2748 individuals - 0 - Mohammed Faruq
+/. - c.60G>A r.(?) p.(Trp20*) - pathogenic g.68772211G>A g.68738308G>A - - CDH1_000376 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786203576 Germline - 1/2748 individuals - 0 - Mohammed Faruq
?/. - c.61C>G r.(?) p.(Leu21Val) - VUS g.68772212C>G g.68738309C>G - - CDH1_000199 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12486 controls - 0 - Yukihide Momozawa
?/. - c.61C>G r.(?) p.(Leu21Val) - NA g.68772212C>G - chr16_68772212_C_G - CDH1_000199 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 - 7/60466 cases - 0 - BRIDGES consortium
?/. - c.61C>G r.(?) p.(Leu21Val) - NA g.68772212C>G - chr16_68772212_C_G - CDH1_000199 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 - 6/53461 controls - 0 - BRIDGES consortium
+/. 2 c.70G>T r.(?) p.(Glu24*) - pathogenic g.68772221G>T g.68738318G>T - - CDH1_000069 - PubMed: Guilford 1999 - - Germline - - - 0 - Global Variome, with Curator vacancy
?/. - c.74C>T r.(?) p.(Pro25Leu) - NA g.68772225C>T - chr16_68772225_C_T - CDH1_000391 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 - 0 - BRIDGES consortium
?/. - c.76G>A r.(?) p.(Glu26Lys) - NA g.68772227G>A - chr16_68772227_G_A - CDH1_000392 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 - 0 - BRIDGES consortium
?/. - c.76G>C r.(?) p.(Glu26Gln) - NA g.68772227G>C - chr16_68772227_G_C - CDH1_000393 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 - 0 - BRIDGES consortium
+/. - c.76G>T r.(?) p.(Glu26*) - pathogenic g.68772227G>T g.68738324G>T - - CDH1_000377 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786201058 Germline - 8/2746 individuals - 0 - Mohammed Faruq
?/. - c.80C>G r.(?) p.(Pro27Arg) - VUS g.68772231C>G g.68738328C>G - - CDH1_000200 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12486 controls - 0 - Yukihide Momozawa
./. 2 c.88C>A r.(?) p.(Pro30Thr) - likely benign g.68772239C>A g.68738336C>A - - CDH1_000135 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
-?/. - c.88C>A r.(?) p.(Pro30Thr) - likely benign g.68772239C>A g.68738336C>A CDH1(NM_004360.3):c.88C>A (p.P30T) - CDH1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.88C>A r.(?) p.(Pro30Thr) - likely benign g.68772239C>A g.68738336C>A CDH1(NM_004360.3):c.88C>A (p.P30T) - CDH1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.88C>A r.(?) p.(Pro30Thr) - likely benign g.68772239C>A g.68738336C>A CDH1(NM_004360.3):c.88C>A (p.P30T) - CDH1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.88C>A r.(?) p.(Pro30Thr) - VUS g.68772239C>A g.68738336C>A CDH1(NM_004360.3):c.88C>A (p.P30T) - CDH1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.88C>A r.(?) p.(Pro30Thr) - likely benign g.68772239C>A g.68738336C>A CDH1(NM_004360.3):c.88C>A (p.P30T) - CDH1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.92G>T r.(?) p.(Gly31Val) - NA g.68772243G>T - chr16_68772243_G_T - CDH1_000394 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 - 0 - BRIDGES consortium
?/. - c.101C>T r.(?) p.(Ala34Val) - NA g.68772252C>T - chr16_68772252_C_T - CDH1_000395 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 - 0 - BRIDGES consortium
?/. - c.109T>C r.(?) p.(Tyr37His) - NA g.68772260T>C - chr16_68772260_T_C - CDH1_000396 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 - 0 - BRIDGES consortium
?/. - c.112A>G r.(?) p.(Thr38Ala) - NA g.68772263A>G - chr16_68772263_A_G - CDH1_000397 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 - 0 - BRIDGES consortium
?/. - c.119C>T r.(?) p.(Thr40Met) - NA g.68772270C>T - chr16_68772270_C_T - CDH1_000398 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 - 0 - BRIDGES consortium
?/. - c.119C>T r.(?) p.(Thr40Met) - NA g.68772270C>T - chr16_68772270_C_T - CDH1_000398 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 - 0 - BRIDGES consortium
?/. - c.121G>T r.(?) p.(Val41Leu) - NA g.68772272G>T - chr16_68772272_G_T - CDH1_000399 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 - 0 - BRIDGES consortium
?/. - c.125C>T r.(?) p.(Pro42Leu) - NA g.68772276C>T - chr16_68772276_C_T - CDH1_000400 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 - 0 - BRIDGES consortium
?/. 2 c.130C>A r.(?) p.(Arg44Ser) - VUS g.68772281C>A g.68738378C>A - - CDH1_000198 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/11241 controls - 0 - Yukihide Momozawa
?/. - c.131G>A r.(?) p.(Arg44His) - NA g.68772282G>A - chr16_68772282_G_A - CDH1_000401 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 - 0 - BRIDGES consortium
?/. - c.134A>G r.(?) p.(His45Arg) - NA g.68772285A>G - chr16_68772285_A_G - CDH1_000402 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 - 0 - BRIDGES consortium
?/. - c.149G>A r.(?) p.(Arg50His) - NA g.68772300G>A - chr16_68772300_G_A - CDH1_000403 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 - 0 - BRIDGES consortium
?/. - c.154C>A r.(?) p.(Leu52Met) - NA g.68772305C>A - chr16_68772305_C_A - CDH1_000404 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 - 0 - BRIDGES consortium
?/. 2 c.154C>T r.(?) p.(=) - VUS g.68772305C>T g.68738402C>T - - CDH1_000201 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs374569322 Germline - 1/7051 cases breast cancer - 0 - Yukihide Momozawa
?/. - c.154C>T r.(?) p.(=) - VUS g.68772305C>T g.68738402C>T - - CDH1_000201 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs374569322 Germline - 1/12486 controls - 0 - Yukihide Momozawa
?/. - c.158G>C r.(?) p.(Gly53Ala) - NA g.68772309G>C - chr16_68772309_G_C - CDH1_000405 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 - 0 - BRIDGES consortium
?/. - c.160A>G r.(?) p.(Arg54Gly) - NA g.68772311A>G - chr16_68772311_A_G - CDH1_000406 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 - 3/60466 cases - 0 - BRIDGES consortium
?/. - c.160A>G r.(?) p.(Arg54Gly) - NA g.68772311A>G - chr16_68772311_A_G - CDH1_000406 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 - 2/53461 controls - 0 - BRIDGES consortium
+/. - c.163+2T>A r.spl? p.? - pathogenic g.68772316T>A g.68738413T>A - - CDH1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 2i c.163+43G>T r.(=) p.(=) - benign g.68772357G>T g.68738454G>T - - CDH1_000093 - - - - Germline - - - 0 - Andreas Laner
-/. 2i c.164-14627G>A r.(?) p.(=) - benign g.68820946G>A g.68787043G>A - - CDH1_000369 - - - - Germline - - - 0 - Maximiliano Zeballos
-/. 2i c.164-14627G>A r.(?) p.(=) - benign g.68820946G>A g.68787043G>A - - CDH1_000369 - - - - Germline - - - 0 - Maximiliano Zeballos
?/. - c.164-32A>G r.spl? p.(=) - VUS g.68835541A>G g.68801638A>G - - CDH1_000382 - - - rs762799038 Germline - - - 0 - CEGH-CEL
?/. - c.164T>C r.(?) p.(Val55Ala) - NA g.68835573T>C - chr16_68835573_T_C - CDH1_000407 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 - 0 - BRIDGES consortium
./. 3 c.164T>G r.spl? p? - VUS g.68835573T>G g.68801670T>G - - CDH1_000136 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. - c.164T>G r.(?) p.(Val55Gly) - NA g.68835573T>G - chr16_68835573_T_G - CDH1_000136 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 - 11/60466 cases - 0 - BRIDGES consortium
?/. - c.164T>G r.(?) p.(Val55Gly) - NA g.68835573T>G - chr16_68835573_T_G - CDH1_000136 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 - 14/53461 controls - 0 - BRIDGES consortium
?/. - c.166A>G r.(?) p.(Asn56Asp) - NA g.68835575A>G - chr16_68835575_A_G - CDH1_000408 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 - 0 - BRIDGES consortium
?/. - c.176A>G r.(?) p.(Asp59Gly) - NA g.68835585A>G - chr16_68835585_A_G - CDH1_000409 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 - 0 - BRIDGES consortium
?/. - c.182C>T r.(?) p.(Thr61Ile) - NA g.68835591C>T - chr16_68835591_C_T - CDH1_000410 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 - 0 - BRIDGES consortium
?/. - c.182C>T r.(?) p.(Thr61Ile) - NA g.68835591C>T - chr16_68835591_C_T - CDH1_000410 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 - 0 - BRIDGES consortium
?/. - c.182_183delinsGTG r.(?) p.(Thr61Serfs*33) - NA g.68835591_68835592delinsGTG - chr16_68835591_CC_GTG - CDH1_000411 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 - 0 - BRIDGES consortium
?/. - c.184G>A r.(?) p.(Gly62Ser) - NA g.68835593G>A - chr16_68835593_G_A - CDH1_000412 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 - 4/60466 cases - 0 - BRIDGES consortium
?/. - c.184G>A r.(?) p.(Gly62Ser) - NA g.68835593G>A - chr16_68835593_G_A - CDH1_000412 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 - 4/53461 controls - 0 - BRIDGES consortium
+/. 3 c.185G>T r.(?) p.(Gly62Val) - pathogenic g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Shinmura 1999 - - Germline - - - 0 - Global Variome, with Curator vacancy
-/. 3 c.185G>T r.(?) p.(Gly62Val) - benign g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 14/7051 cases breast cancer - 0 - Yukihide Momozawa
-/. 3 c.185G>T r.(?) p.(Gly62Val) - benign g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 47/11241 controls - 0 - Yukihide Momozawa
-/. - c.185G>T r.(?) p.(Gly62Val) - benign g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 1/11241 controls - 0 - Yukihide Momozawa
?/. - c.185G>T r.(?) p.(Gly62Val) - VUS g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 43/12490 controls - 0 - Yukihide Momozawa
+/. 3 c.187C>T r.(?) p.(Arg63*) - pathogenic g.68835596C>T g.68801693C>T - - CDH1_000035 - PubMed: Gayther 1998 - - Germline - - - 0 - Global Variome, with Curator vacancy
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This database is one of the InSiGHT gene variant databases