Unique variants in the CDH1 gene


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

708 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     
+/., -/. 2 _1 c.-472delA r.(=) p.(=) - benign, pathogenic g.68770847del g.68736944del -347G>GA, -472G/GA - CDH1_000079 expression cloning normal activity in luciferase promoter construct, 1 more item PubMed: Nakamura 2002, PubMed: Shin 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 _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 - - - - - Johan den Dunnen
+/. 1 _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 - - - - - Johan den Dunnen
?/. 1 _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 - - - Maria Rita Passos-Bueno
?/. 1 1 c.-84G>A r.(=) p.(=) - VUS g.68771235G>A g.68737332G>A - - CDH1_000132 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - - - Maria Rita Passos-Bueno
-/., ?/. 5 1 c.-71C>G r.(=), r.(?) p.(=) - benign, VUS g.68771248C>G g.68737345C>G CDH1(NM_004360.3):c.-71C>G - CDH1_000128 VKGL data sharing initiative Nederland PubMed: Brito 2015, Journal: Brito 2015 - - CLASSIFICATION record, Germline - 16/1218 chromosomes - - - Maria Rita Passos-Bueno, VKGL-NL_NKI
?/. 1 1 c.-64G>T r.(=) p.(=) - VUS g.68771255G>T g.68737352G>T - - CDH1_000097 - - - - Germline - - - - - Andreas Laner
+/., -?/. 2 1 c.-54G>C r.(=), r.(?) p.(=) - likely benign, pathogenic g.68771265G>C g.68737362G>C - - CDH1_000076 expression cloning 0.66 activity in luciferase promoter construct, 1 more item PubMed: Nakamura 2002 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.-29C>G r.(?) p.(=) - likely benign g.68771290C>G - - - CDH1_000388 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.3G>A r.(?) p.(Met1?) - pathogenic g.68771321G>A g.68737418G>A - - CDH1_000197 - PubMed: Pandalai 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.3G>C r.(?) p.(Met1?) - pathogenic g.68771321G>C g.68737418G>C M1I - CDH1_000060 - PubMed: Suriano 2005 - - Unknown - - - - - Johan den Dunnen
?/. 1 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 - - - Yukihide Momozawa
-?/. 2 - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
+/. 1 1 c.41del r.(?) p.(Leu14Argfs*42) - pathogenic g.68771359del g.68737456del - - CDH1_000061 - PubMed: Bacani 2006 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - 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 1 c.44dup r.(?) p.(Gln16Alafs*18) - pathogenic g.68771362dup g.68737459dup - - CDH1_000062 - PubMed: Oliveira 2002 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - 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
+/., +?/. 3 1i c.48+1G>A r.spl, r.spl? p.? ACMG pathogenic g.68771367G>A g.68737464G>A IVS1+1G>A - CDH1_000195 ACMG grading: PVS1, PM2, PP5 (=class 5) PubMed: Pandalai 2011, PubMed: Petridis 2014 - - Germline ? - - - - Johan den Dunnen, Andreas Laner
-/., -?/. 3 - c.48+5C>G r.spl? p.? - benign, 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 - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 9 1i c.48+6C>T r.(=), 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, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC, Maximiliano Zeballos, VKGL-NL_NKI, Carlos Vaccaro
-?/. 1 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 ? - - - - Pränatalmedizin & Genetik MVZ Nürnberg
?/. 1 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 - - - - - Maria Rita Passos-Bueno
?/. 1 - c.49-2A>C r.spl? p.? - NA g.68772198A>C - chr16_68772198_A_C - CDH1_000389 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/. 1 2 c.54del r.(?) p.(Ser19Leufs*37) - pathogenic g.68772205del g.68738302del - - CDH1_000065 - PubMed: Humar 2002 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.56C>T r.(?) p.(Ser19Phe) - NA g.68772207C>T - chr16_68772207_C_T - CDH1_000390 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/. 1 2 c.59G>A r.(?) p.(Trp20*) - pathogenic g.68772210G>A g.68738307G>A - - CDH1_000067 - PubMed: Richards 1999, OMIM:var0009 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 2 - c.60G>A r.(?) p.(Trp20*) - pathogenic g.68772211G>A g.68738308G>A - - CDH1_000376 1 homozygous; Clinindb (India), 2 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786203576 Germline - 1/2748 individuals, 2/2748 individuals - - - Mohammed Faruq
?/. 3 - c.61C>G r.(?) p.(Leu21Val) - NA, VUS g.68772212C>G g.68738309C>G chr16_68772212_C_G - CDH1_000199 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12486 controls, 6/53461 controls, 7/60466 cases - - - Yukihide Momozawa, BRIDGES consortium
+/. 1 2 c.70G>T r.(?) p.(Glu24*) - pathogenic g.68772221G>T g.68738318G>T - - CDH1_000069 - PubMed: Guilford 1999 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.74C>T r.(?) p.(Pro25Leu) - NA g.68772225C>T - chr16_68772225_C_T - CDH1_000391 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.76G>A r.(?) p.(Glu26Lys) - NA g.68772227G>A - chr16_68772227_G_A - CDH1_000392 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.76G>C r.(?) p.(Glu26Gln) - NA g.68772227G>C - chr16_68772227_G_C - CDH1_000393 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/. 1 - 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 - - - Mohammed Faruq
?/. 1 - 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 - - - Yukihide Momozawa
-?/., ./., ?/. 6 2 c.88C>A r.(?) p.(Pro30Thr) - likely benign, VUS g.68772239C>A g.68738336C>A CDH1(NM_004360.3):c.88C>A (p.P30T) - CDH1_000135 VKGL data sharing initiative Nederland Thibodeau lab (Mayo Clinic) - - CLASSIFICATION record, Germline - - - - - Melissa DeRycke, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.92G>T r.(?) p.(Gly31Val) - NA g.68772243G>T - chr16_68772243_G_T - CDH1_000394 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.101C>T r.(?) p.(Ala34Val) - NA g.68772252C>T - chr16_68772252_C_T - CDH1_000395 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.109T>C r.(?) p.(Tyr37His) - NA g.68772260T>C - chr16_68772260_T_C - CDH1_000396 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.112A>G r.(?) p.(Thr38Ala) - NA g.68772263A>G - chr16_68772263_A_G - CDH1_000397 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.119C>T r.(?) p.(Thr40Met) - NA g.68772270C>T - chr16_68772270_C_T - CDH1_000398 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.121G>T r.(?) p.(Val41Leu) - NA g.68772272G>T - chr16_68772272_G_T - CDH1_000399 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.125C>T r.(?) p.(Pro42Leu) - NA g.68772276C>T - chr16_68772276_C_T - CDH1_000400 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 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 - - - Yukihide Momozawa
?/. 1 - c.131G>A r.(?) p.(Arg44His) - NA g.68772282G>A - chr16_68772282_G_A - CDH1_000401 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.134A>G r.(?) p.(His45Arg) - NA g.68772285A>G - chr16_68772285_A_G - CDH1_000402 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.149G>A r.(?) p.(Arg50His) - NA g.68772300G>A - chr16_68772300_G_A - CDH1_000403 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.154C>A r.(?) p.(Leu52Met) - NA g.68772305C>A - chr16_68772305_C_A - CDH1_000404 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 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 - 1/12486 controls, 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 - c.158G>C r.(?) p.(Gly53Ala) - NA g.68772309G>C - chr16_68772309_G_C - CDH1_000405 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.160A>G r.(?) p.(Arg54Gly) - NA g.68772311A>G - chr16_68772311_A_G - CDH1_000406 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 3/60466 cases - - - BRIDGES consortium
+/. 1 - c.163+2T>A r.spl? p.? - pathogenic g.68772316T>A g.68738413T>A - - CDH1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 2i c.163+43G>T r.(=) p.(=) - benign g.68772357G>T g.68738454G>T - - CDH1_000093 - - - - Germline - - - - - Andreas Laner
-/. 2 2i c.164-14627G>A r.(?) p.(=) - benign g.68820946G>A g.68787043G>A - - CDH1_000369 - - - - Germline - - - - - Maximiliano Zeballos
?/. 1 - c.164-32A>G r.spl? p.(=) - VUS g.68835541A>G g.68801638A>G - - CDH1_000382 - - - rs762799038 Germline - - - - - CEGH-CEL
?/. 1 - c.164T>C r.(?) p.(Val55Ala) - NA g.68835573T>C - chr16_68835573_T_C - CDH1_000407 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
./., ?/. 3 3 c.164T>G r.(?), r.spl? p.(Val55Gly), p? - NA, VUS g.68835573T>G g.68801670T>G chr16_68835573_T_G - CDH1_000136 1 more item Thibodeau lab (Mayo Clinic), PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 11/60466 cases, 14/53461 controls - - - Melissa DeRycke, BRIDGES consortium
?/. 1 - c.166A>G r.(?) p.(Asn56Asp) - NA g.68835575A>G - chr16_68835575_A_G - CDH1_000408 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.176A>G r.(?) p.(Asp59Gly) - NA g.68835585A>G - chr16_68835585_A_G - CDH1_000409 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.182C>T r.(?) p.(Thr61Ile) - NA g.68835591C>T - chr16_68835591_C_T - CDH1_000410 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.182_183delinsGTG r.(?) p.(Thr61Serfs*33) - NA g.68835591_68835592delinsGTG - chr16_68835591_CC_GTG - CDH1_000411 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.184G>A r.(?) p.(Gly62Ser) - NA g.68835593G>A - chr16_68835593_G_A - CDH1_000412 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls, 4/60466 cases - - - BRIDGES consortium
+/., -/., ?/. 5 3 c.185G>T r.(?) p.(Gly62Val) - benign, pathogenic, VUS g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018, PubMed: Shinmura 1999 - rs786203727 Germline - 1/11241 controls, 14/7051 cases breast cancer, 43/12490 controls, 47/11241 controls - - - Global Variome, with Curator vacancy, Yukihide Momozawa
+/. 2 3 c.187C>T r.(?) p.(Arg63*) - pathogenic g.68835596C>T g.68801693C>T - - CDH1_000035 1 heterozygous, no homozygous; Clinindb (India) PubMed: Gayther 1998, PubMed: Narang 2020, Journal: Narang 2020 - rs587783047 Germline - 1/2795 individuals - - - Global Variome, with Curator vacancy, Mohammed Faruq
-/., ?/. 3 3 c.188G>A r.(?) p.(Arg63Gln) - benign, NA g.68835597G>A g.68801694G>A chr16_68835597_G_A - CDH1_000370 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 4/60466 cases - - - Maximiliano Zeballos, BRIDGES consortium
+/. 1 3 c.190C>T r.(?) p.(Gln64*) - pathogenic g.68835599C>T g.68801696C>T - - CDH1_000037 - PubMed: Guilford 1999 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.191A>T r.(?) p.(Gln64Leu) - NA g.68835600A>T - chr16_68835600_A_T - CDH1_000413 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.196A>G r.(?) p.(Thr66Ala) - NA g.68835605A>G - chr16_68835605_A_G - CDH1_000414 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.197C>T r.(?) p.(Thr66Ile) - NA g.68835606C>T - chr16_68835606_C_T - CDH1_000415 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.200C>G r.(?) p.(Ala67Gly) - NA g.68835609C>G - chr16_68835609_C_G - CDH1_000416 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
-?/. 1 - c.213C>T r.(?) p.(Leu71=) - likely benign g.68835622C>T - CDH1(NM_004360.3):c.213C>T (p.L71=) - CDH1_000717 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
./., ?/. 4 3 c.214G>A r.(?) p.(Asp72Asn) - NA, VUS g.68835623G>A g.68801720G>A chr16_68835623_G_A - CDH1_000137 not in 7051 cases breast cancer, 1 more item Thibodeau lab (Mayo Clinic), PubMed: Dorling 2021, Journal: Dorling 2021, 1 more item - rs35606263 Germline - 1/11241 controls, 4/53461 controls, 8/60466 cases - - - Yukihide Momozawa, Melissa DeRycke, BRIDGES consortium
+/., ?/. 2 3 c.220C>T r.(?) p.(Arg74*) - NA, pathogenic g.68835629C>T g.68801726C>T chr16_68835629_C_T - CDH1_000202 not in 11241 controls, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/60466 cases, 1/7051 cases breast cancer - - - Yukihide Momozawa, BRIDGES consortium
?/. 2 - c.221G>A r.(?) p.(Arg74Gln) - NA g.68835630G>A - chr16_68835630_G_A - CDH1_000417 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.225C>A r.(?) p.(Phe75Leu) - NA g.68835634C>A - chr16_68835634_C_A - CDH1_000418 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 3 c.226A>G r.(?) p.(Lys76Glu) - VUS g.68835635A>G g.68801732A>G - - CDH1_000203 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 - c.230T>G r.(?) p.(Val77Gly) - NA g.68835639T>G - chr16_68835639_T_G - CDH1_000419 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.233G>A r.(?) p.(Gly78Asp) - NA, VUS g.68835642G>A g.68801739G>A chr16_68835642_G_A - CDH1_000205 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587781404 Germline - 1/12490 controls, 1/53461 controls - - - Yukihide Momozawa, BRIDGES consortium
?/. 2 3 c.235A>G r.(?) p.(Thr79Ala) - NA, VUS g.68835644A>G g.68801741A>G chr16_68835644_A_G - CDH1_000204 not in 11241 controls, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs745327620 Germline - 1/60466 cases, 1/7051 cases breast cancer - - - Yukihide Momozawa, BRIDGES consortium
+/. 1 3 c.241_244dup r.(?) p.(Val82Glyfs*13) - pathogenic g.68835650_68835653dup g.68801747_68801750dup 241_244dupGGTG - CDH1_000053 - PubMed: Christgen 2008 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.242_244del r.(?) p.(Gly81del) - VUS g.68835651_68835653del g.68801748_68801750del 242_244delGTG - CDH1_000336 - - - - Unknown - - - - - IMGAG
?/. 2 - c.244G>A r.(?) p.(Val82Met) - NA g.68835653G>A - chr16_68835653_G_A - CDH1_000420 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.244G>T r.(?) p.(Val82Leu) - VUS g.68835653G>T g.68801750G>T - - CDH1_000207 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 - c.247A>G r.(?) p.(Ile83Val) - NA g.68835656A>G - chr16_68835656_A_G - CDH1_000421 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.263C>G r.(?) p.(Pro88Arg) - NA g.68835672C>G - chr16_68835672_C_G - CDH1_000422 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 3/60466 cases - - - BRIDGES consortium
?/. 2 - c.268C>T r.(?) p.(Arg90Trp) - NA g.68835677C>T - chr16_68835677_C_T - CDH1_000423 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 4/60466 cases - - - BRIDGES consortium
?/. 3 - c.269G>A r.(?) p.(Arg90Gln) - NA, VUS g.68835678G>A g.68801775G>A chr16_68835678_G_A - CDH1_000208 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587782647 Germline - 1/12490 controls, 3/60466 cases, 5/53461 controls - - - Yukihide Momozawa, BRIDGES consortium
+/. 2 3 c.283C>T r.(?) p.(Gln95*) - pathogenic g.68835692C>T g.68801789C>T - - CDH1_000055 - PubMed: Dassaulx-Garin 2001 - - Germline, Unknown - - - - - Global Variome, with Curator vacancy, Nancy Uhrhammer
?/. 2 - c.286A>T r.(?) p.(Ile96Phe) - NA g.68835695A>T - chr16_68835695_A_T - CDH1_000424 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/60466 cases, 5/53461 controls - - - BRIDGES consortium
?/. 1 - c.294C>T r.(?) p.(=) - VUS g.68835703C>T g.68801800C>T - - CDH1_000209 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 - c.296T>C r.(?) p.(Leu99Ser) - NA g.68835705T>C - chr16_68835705_T_C - CDH1_000425 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 3 c.298G>A r.(?) p.(Val100Ile) - VUS g.68835707G>A g.68801804G>A - - CDH1_000206 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
-?/. 1 - c.303C>T r.(?) p.(Tyr101=) - likely benign g.68835712C>T g.68801809C>T CDH1(NM_004360.3):c.303C>T (p.Y101=) - CDH1_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.304G>A r.(?) p.(Ala102Thr) - NA g.68835713G>A - chr16_68835713_G_A - CDH1_000427 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 11/53461 controls, 7/60466 cases - - - BRIDGES consortium
?/. 1 - c.304G>T r.(?) p.(Ala102Ser) - NA g.68835713G>T - chr16_68835713_G_T - CDH1_000426 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.311A>T r.(?) p.(Asp104Val) - NA g.68835720A>T - chr16_68835720_A_T - CDH1_000428 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.317C>T r.(?) p.(Thr106Ile) - NA g.68835726C>T - chr16_68835726_C_T - CDH1_000429 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.322A>G r.(?) p.(Arg108Gly) - NA g.68835731A>G - chr16_68835731_A_G - CDH1_000430 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
-/., -?/., ?/. 4 3 c.324A>G r.(=), r.(?) p.(=), p.(Arg108=) - benign, likely benign, VUS g.68835733A>G g.68801830A>G CDH1(NM_004360.3):c.324A>G (p.R108=) - CDH1_000130 VKGL data sharing initiative Nederland PubMed: Brito 2015, Journal: Brito 2015 - - CLASSIFICATION record, Germline - 6/1218 chromosomes - - - Maria Rita Passos-Bueno, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 3 c.326A>T r.(?) p.(Lys109Met) - VUS g.68835735A>T g.68801832A>T - - CDH1_000210 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
+/. 1 - c.326del r.(?) p.(Lys109Serfs*8) - pathogenic g.68835735del g.68801832del - - CDH1_000371 - - - - Germline - - - - - Carlos Vaccaro
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This database is one of the InSiGHT gene variant databases