Full data view for gene CDH1


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

648 entries on 7 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1 c.-472delA pathogenic r.(=) p.(=) Parent #1 g.68770847delA g.68736944delA -347G>GA - CDH1_000079 expression cloning significantly increased promoter activity PubMed: Shin 2004 - - Germline - - - 0 - DNA DHPLC, SEQ - - ? - PubMed: Shin 2004 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. _1 c.-472delA benign r.(=) p.(=) Parent #1 g.68770847delA g.68736944delA -472G/GA - CDH1_000079 expression cloning normal activity in luciferase promoter construct PubMed: Nakamura 2002 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Nakamura 2002 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. _1 c.-288delT pathogenic r.(=) p.(=) Parent #1 g.68771031delT g.68737128delT - - CDH1_000078 expression cloning 0.8 activity in luciferase promoter construct PubMed: Nakamura 2002 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Nakamura 2002 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. _1 c.-285C>A pathogenic r.(=) p.(=) Parent #1 g.68771034C>A g.68737131C>A - - CDH1_000077 expression cloning 0.66 activity in luciferase promoter construct PubMed: Nakamura 2002 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Nakamura 2002 - - - Japan - - 0 - - 1 Johan den Dunnen
?/. _1 c.-126_-125delinsAA VUS r.(=) p.(=) Unknown 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 - DNA SEQ - - CLP - PubMed: Brito 2015, Journal: Brito 2015 - - - Brazil - - 0 - - 1 Maria Rita Passos-Bueno
?/. 1 c.-84G>A VUS r.(=) p.(=) Unknown g.68771235G>A g.68737332G>A - - CDH1_000132 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - DNA SEQ Saliva - CLP - PubMed: Brito 2015, Journal: Brito 2015 - M - Brazil - - 0 - - 1 Maria Rita Passos-Bueno
?/. 1 c.-71C>G VUS r.(=) p.(=) Unknown g.68771248C>G g.68737345C>G - - CDH1_000128 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - DNA SEQ Saliva - CLP - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - 1 Maria Rita Passos-Bueno
?/. 1 c.-71C>G VUS r.(=) p.(=) Unknown g.68771248C>G g.68737345C>G - - CDH1_000128 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - DNA SEQ Saliva - CLP - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - 1 Maria Rita Passos-Bueno
?/. 1 c.-71C>G VUS r.(=) p.(=) Unknown g.68771248C>G g.68737345C>G - - CDH1_000128 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - DNA SEQ Saliva - CLP - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - 1 Maria Rita Passos-Bueno
?/. 1 c.-71C>G VUS r.(=) p.(=) Unknown g.68771248C>G g.68737345C>G - - CDH1_000128 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - 16/1218 chromosomes - 0 - DNA SEQ Saliva - Healthy/Control - PubMed: Brito 2015, Journal: Brito 2015 609 Brazilian controls - - Brazil - - 0 - - 16 Maria Rita Passos-Bueno
?/. 1 c.-64G>T VUS r.(=) p.(=) Parent #1 g.68771255G>T g.68737352G>T - - CDH1_000097 - - - - Germline - - - 0 - DNA SEQ - - cancer, gastric - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 1 c.-54G>C pathogenic r.(=) p.(=) Parent #1 g.68771265G>C g.68737362G>C - - CDH1_000076 expression cloning 0.66 activity in luciferase promoter construct PubMed: Nakamura 2002 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Nakamura 2002 - - - Japan - - 0 - - 1 Johan den Dunnen
-?/. - c.-54G>C likely benign r.(?) p.(=) Unknown g.68771265G>C - CDH1(NM_004360.4):c.-54G>C (p.?) - CDH1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.3G>A pathogenic r.(?) p.? Parent #1 g.68771321G>A - - - CDH1_000197 - PubMed: Pandalai 2011 - - Germline - - - 0 - DNA SEQ - - cancer, gastric 20719348-Fam6Pat10 PubMed: Pandalai 2011 - M - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.3G>C pathogenic r.? p.? Unknown g.68771321G>C g.68737418G>C M1I - CDH1_000060 - PubMed: Suriano 2005 - - Unknown - - - 0 - DNA SEQ - - HDGC - PubMed: Suriano 2005 - ? - Canada - - 0 - - 1 Johan den Dunnen
?/. 1 c.22C>T VUS r.(?) p.(Leu8Phe) Parent #1 g.68771340C>T - - - CDH1_000196 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 1 Yukihide Momozawa
-?/. - c.27G>A likely benign r.(?) p.(=) Unknown g.68771345G>A - CDH1(NM_004360.3):c.27G>A (p.S9=) - CDH1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.41delT pathogenic r.(?) p.(Leu14Argfs*42) Unknown g.68771359delT g.68737456delT - - CDH1_000061 - PubMed: Bacani 2006 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Bacani 2006 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.41_46dup likely benign r.(?) p.(Leu14_Leu15dup) Unknown g.68771359_68771364dup - CDH1(NM_004360.3):c.41_46dupTGCTGC (p.L14_L15dup) - chr16_006933 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.44dupT pathogenic r.(?) p.(Gln16Alafs*18) Unknown g.68771362dup g.68737459dupT - - CDH1_000062 - PubMed: Oliveira 2002 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Oliveira 2002 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/. 1i c.48+1G>A ACMG: 5 r.spl? p.? Unknown g.68771367G>A - - - CDH1_000195 ACMG grading: PVS1, PM2, PP5 (=class 5) - - - Germline ? - - 0 - DNA SEQ-NG-I - MGZ Panel ID 643.01 HDGC 136151 - - F ? Germany - - 0 - - 1 Andreas Laner
+/. 1i c.48+1G>A pathogenic r.spl p.? Parent #1 g.68771367G>A - IVS1+1G>A - CDH1_000195 - PubMed: Pandalai 2011 - - Germline - - - 0 - DNA SEQ - - cancer, gastric 20719348-Fam4Pat4/5/6 PubMed: Pandalai 2011 family, 3 affected (F, 2M) F;M - United States - - 0 - - 3 Johan den Dunnen
+/. 1i c.48+1G>A pathogenic r.spl? p.? Parent #1 g.68771367G>A - - - CDH1_000195 - PubMed: Petridis 2014 - - Germline - - - 0 - DNA SEQ - - cancer, breast 24366306-PatBILAT-044 PubMed: Petridis 2014 - F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.48+5C>G benign r.spl? p.? Unknown g.68771371C>G - CDH1(NM_004360.3):c.48+5C>G (p.?) - CDH1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.48+5C>G likely benign r.spl? p.? Unknown g.68771371C>G - CDH1(NM_004360.3):c.48+5C>G (p.?) - CDH1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.48+5C>G benign r.spl? p.? Unknown g.68771371C>G - CDH1(NM_004360.3):c.48+5C>G (p.?) - CDH1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.48+6C>T benign r.(=) p.(=) Unknown g.68771372C>T - CDH1(NM_004360.3):c.48+6C>T (p.?) - CDH1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.48+6C>T benign r.(=) p.(=) Unknown g.68771372C>T - CDH1(NM_004360.3):c.48+6C>T (p.?) - CDH1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.48+6C>T benign r.(=) p.(=) Unknown g.68771372C>T - CDH1(NM_004360.3):c.48+6C>T (p.?) - CDH1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.48+7C>G likely benign r.(=) p.(=) Unknown g.68771373C>G g.68737470C>G - - CDH1_000133 conservation, in silico analysis: IARC-2 likely not pathogenic - - - Unknown ? - - 0 - DNA SEQ-NG peripheral blood - cancer, breast - - - F ? ? (unknown) - - 0 - - 1 Pränatalmedizin & Genetik MVZ Nürnberg
?/. 1i c.48+22G>A VUS r.(=) p.(=) Unknown g.68771388G>A g.68737485G>A - - CDH1_000129 not in 609 Brazilian controls PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - DNA SEQ Saliva - CLP - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - 1 Maria Rita Passos-Bueno
+/. 2 c.54delC pathogenic r.(?) p.(Ser19Leufs*37) Unknown g.68772205delC g.68738302delC - - CDH1_000065 - PubMed: Humar 2002 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Humar 2002 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 2 c.59G>A pathogenic r.(?) p.(Trp20*) Unknown g.68772210G>A g.68738307G>A - - CDH1_000067 - PubMed: Richards 1999, OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Richards 1999, {OMIM192090:0009} - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.61C>G VUS r.(?) p.(Leu21Val) Parent #1 g.68772212C>G - - - CDH1_000199 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12486 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
+/. 2 c.70G>T pathogenic r.(?) p.(Glu24*) Unknown g.68772221G>T g.68738318G>T - - CDH1_000069 - PubMed: Guilford 1999 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Guilford 1999 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.80C>G VUS r.(?) p.(Pro27Arg) Parent #1 g.68772231C>G - - - CDH1_000200 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12486 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
./. 2 c.88C>A - r.(?) p.(Pro30Thr) Parent #1 g.68772239C>A g.68738336C>A - - CDH1_000135 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 7 Melissa DeRycke
-?/. - c.88C>A likely benign r.(?) p.(Pro30Thr) Unknown g.68772239C>A - CDH1(NM_004360.3):c.88C>A (p.P30T) - CDH1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.88C>A likely benign r.(?) p.(Pro30Thr) Unknown g.68772239C>A - CDH1(NM_004360.3):c.88C>A (p.P30T) - CDH1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88C>A likely benign r.(?) p.(Pro30Thr) Unknown g.68772239C>A - CDH1(NM_004360.3):c.88C>A (p.P30T) - CDH1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88C>A VUS r.(?) p.(Pro30Thr) Unknown g.68772239C>A - CDH1(NM_004360.3):c.88C>A (p.P30T) - CDH1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88C>A likely benign r.(?) p.(Pro30Thr) Unknown g.68772239C>A - CDH1(NM_004360.3):c.88C>A (p.P30T) - CDH1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.130C>A VUS r.(?) p.(Arg44Ser) Parent #1 g.68772281C>A - - - CDH1_000198 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 2 Yukihide Momozawa
?/. 2 c.154C>T VUS r.(?) p.(=) Parent #1 g.68772305C>T - - - CDH1_000201 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs374569322 Germline - 1/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.154C>T VUS r.(?) p.(=) Parent #1 g.68772305C>T - - - CDH1_000201 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs374569322 Germline - 1/12486 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
+/. - c.163+2T>A pathogenic r.spl? p.? Unknown g.68772316T>A - CDH1(NM_004360.3):c.163+2T>A (p.?) - CDH1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2i c.163+43G>T benign r.(=) p.(=) Parent #1 g.68772357G>T g.68738454G>T - - CDH1_000093 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
./. 3 c.164T>G - r.spl? p? Parent #1 g.68835573T>G g.68801670T>G - - CDH1_000136 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+/. 3 c.185G>T pathogenic r.(?) p.(Gly62Val) Unknown g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Shinmura 1999 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Shinmura 1999 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. 3 c.185G>T benign r.(?) p.(Gly62Val) Parent #1 g.68835594G>T - - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 14/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 14 Yukihide Momozawa
-/. 3 c.185G>T benign r.(?) p.(Gly62Val) Parent #1 g.68835594G>T - - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 47/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 47 Yukihide Momozawa
-/. - c.185G>T benign r.(?) p.(Gly62Val) Both (homozygous) g.68835594G>T - - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.185G>T VUS r.(?) p.(Gly62Val) Parent #1 g.68835594G>T - - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 43/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 43 Yukihide Momozawa
+/. 3 c.187C>T pathogenic r.(?) p.(Arg63*) Unknown g.68835596C>T g.68801693C>T - - CDH1_000035 - PubMed: Gayther 1998 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Gayther 1998 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 3 c.190C>T pathogenic r.(?) p.(Gln64*) Unknown g.68835599C>T g.68801696C>T - - CDH1_000037 - PubMed: Guilford 1999 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Guilford 1999 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. 3 c.214G>A - r.(?) p.(Asp72Asn) Parent #1 g.68835623G>A g.68801720G>A - - CDH1_000137 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. 3 c.214G>A VUS r.(?) p.(Asp72Asn) Parent #1 g.68835623G>A - - - CDH1_000137 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs35606263 Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
+/. 3 c.220C>T pathogenic r.(?) p.(Arg74*) Parent #1 g.68835629C>T - - - CDH1_000202 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 1 Yukihide Momozawa
?/. 3 c.226A>G VUS r.(?) p.(Lys76Glu) Parent #1 g.68835635A>G - - - CDH1_000203 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.233G>A VUS r.(?) p.(Gly78Asp) Parent #1 g.68835642G>A - - - CDH1_000205 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587781404 Germline - 1/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
?/. 3 c.235A>G VUS r.(?) p.(Thr79Ala) Parent #1 g.68835644A>G - - - CDH1_000204 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs745327620 Germline - 1/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 1 Yukihide Momozawa
+/. 3 c.241_244dup pathogenic r.(?) p.(Val82Glyfs*13) Unknown g.68835650_68835653dup g.68801747_68801750dup 241_244dupGGTG - CDH1_000053 - PubMed: Christgen 2008 - - Germline - - - 0 - DNA SEQ - - cancer, breast - PubMed: Christgen 2008 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.242_244del VUS r.(?) p.(Gly81del) Unknown g.68835651_68835653del - 242_244delGTG - CDH1_000336 - - - - Unknown - - - 0 - DNA SEQ - - - - - - F - - - - 0 - - 1 IMGAG
?/. - c.244G>T VUS r.(?) p.(Val82Leu) Parent #1 g.68835653G>T - - - CDH1_000207 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.269G>A VUS r.(?) p.(Arg90Gln) Parent #1 g.68835678G>A - - - CDH1_000208 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587782647 Germline - 1/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
+/. 3 c.283C>T pathogenic r.(?) p.(Gln95*) Unknown g.68835692C>T g.68801789C>T - - CDH1_000055 - PubMed: Dassaulx-Garin 2001 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Dassaulx-Garin 2001 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 3 c.283C>T pathogenic r.(?) p.(Gln95*) Unknown g.68835692C>T g.68801789C>T - - CDH1_000055 - - - - Unknown - - - 0 - DNA SEQ - - cancer, breast - - - F - France - - 0 phenotype, pedigree - 1 Nancy Uhrhammer
?/. - c.294C>T VUS r.(?) p.(=) Parent #1 g.68835703C>T - - - CDH1_000209 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
?/. 3 c.298G>A VUS r.(?) p.(Val100Ile) Parent #1 g.68835707G>A - - - CDH1_000206 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
?/. 3 c.324A>G VUS r.(=) p.(=) Unknown g.68835733A>G g.68801830A>G - - CDH1_000130 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - DNA SEQ Saliva - CLP - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - 1 Maria Rita Passos-Bueno
?/. 3 c.324A>G VUS r.(=) p.(=) Unknown g.68835733A>G g.68801830A>G - - CDH1_000130 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - 6/1218 chromosomes - 0 - DNA SEQ Saliva - Healthy/Control - PubMed: Brito 2015, Journal: Brito 2015 609 Brazilian controls - - Brazil - - 0 - - 6 Maria Rita Passos-Bueno
-?/. - c.324A>G likely benign r.(?) p.(=) Unknown g.68835733A>G - CDH1(NM_004360.3):c.324A>G (p.=) - CDH1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.326A>T VUS r.(?) p.(Lys109Met) Parent #1 g.68835735A>T - - - CDH1_000210 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
-?/. - c.337A>G likely benign r.(?) p.(Lys113Glu) Unknown g.68835746A>G - CDH1(NM_004360.3):c.337A>G (p.Lys113Glu) - chr16_006934 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.344C>T VUS r.(?) p.(Thr115Met) Parent #1 g.68835753C>T - - - CDH1_000212 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs370973869 Germline - 1/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
?/. 3 c.345G>A VUS r.(=) p.(=) Unknown g.68835754G>A g.68801851G>A - - CDH1_000131 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - DNA SEQ Saliva - CLP - PubMed: Brito 2015, Journal: Brito 2015 - M - Brazil - - 0 - - 1 Maria Rita Passos-Bueno
?/. 3 c.345G>A VUS r.(=) p.(=) Unknown g.68835754G>A g.68801851G>A - - CDH1_000131 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - 6/1218 chromosomes - 0 - DNA SEQ Saliva - Healthy/Control - PubMed: Brito 2015, Journal: Brito 2015 609 Brazilian controls - - Brazil - - 0 - - 6 Maria Rita Passos-Bueno
-/. - c.345G>A benign r.(?) p.(=) Unknown g.68835754G>A - CDH1(NM_004360.3):c.345G>A (p.=) - CDH1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.345G>A benign r.(?) p.(=) Unknown g.68835754G>A - CDH1(NM_004360.3):c.345G>A (p.=) - CDH1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.353C>G pathogenic r.(?) p.(Thr118Arg) Unknown g.68835762C>G g.68801859C>G - - CDH1_000056 - PubMed: Suriano 2006 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Suriano 2006 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 3 c.353C>T VUS r.(?) p.(Thr118Ile) Parent #1 g.68835762C>T - - - CDH1_000211 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 1 Yukihide Momozawa
?/. 3 c.363C>G VUS r.(?) p.(His121Gln) Parent #1 g.68835772C>G - - - CDH1_000213 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.363C>G VUS r.(?) p.(His121Gln) Parent #1 g.68835772C>G - - - CDH1_000213 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 2 Yukihide Momozawa
?/. 3 c.370C>T VUS r.(?) p.(Arg124Cys) Parent #1 g.68835779C>T - - - CDH1_000214 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs748086082 Germline - 2/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 2 Yukihide Momozawa
?/. 3 c.370C>T VUS r.(?) p.(Arg124Cys) Parent #1 g.68835779C>T - - - CDH1_000214 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs748086082 Germline - 7/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 7 Yukihide Momozawa
?/. - c.370C>T VUS r.(?) p.(Arg124Cys) Both (homozygous) g.68835779C>T - - - CDH1_000214 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs748086082 Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.370C>T VUS r.(?) p.(Arg124Cys) Parent #1 g.68835779C>T - - - CDH1_000214 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs748086082 Germline - 4/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 4 Yukihide Momozawa
+/. 3 c.372_377del pathogenic r.(?) p.(Pro126_Pro127del) Unknown g.68835781_68835786del g.68801878_68801883del 372_377delCCCCCC - CDH1_000057 - PubMed: Keller 1999 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Keller 1999 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 3 c.374C>T VUS r.(?) p.(Pro125Leu) Parent #1 g.68835783C>T - - - CDH1_000215 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
-/. 3 c.377C>A benign r.(?) p.(Pro126Gln) Parent #1 g.68835786C>A - - - CDH1_000216 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs746703615 Germline - 4/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 4 Yukihide Momozawa
-/. 3 c.377C>A benign r.(?) p.(Pro126Gln) Parent #1 g.68835786C>A - - - CDH1_000216 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs746703615 Germline - 2/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 2 Yukihide Momozawa
?/. - c.377C>A VUS r.(?) p.(Pro126Gln) Parent #1 g.68835786C>A - - - CDH1_000216 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs746703615 Germline - 5/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 5 Yukihide Momozawa
+/. 3 c.377delC pathogenic r.(?) p.(Pro126Argfs*89) Unknown g.68835786delC g.68801883delC 377delC - CDH1_000058 - PubMed: Keller 1999 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Keller 1999 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 3 c.377dup pathogenic r.(?) p.(Pro127Alafs*41) Parent #1 g.68835786dup g.68801883dup - - CDH1_000094 - - - - Germline - - - 0 - DNA SEQ - - cancer - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 3 c.378G>A benign r.(?) p.(=) Parent #1 g.68835787G>A - - - CDH1_000217 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786201504 Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
+/. 3 c.382delC pathogenic r.(?) p.(His128Ilefs*87) Unknown g.68835791delC g.68801888delC - - CDH1_000059 - PubMed: Brooks-Wilson 2004 - - Germline - - - 0 - DNA SEQ - - HDGC - PubMed: Brooks-Wilson 2004 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/. 3i c.387+5G>A likely pathogenic r.spl? p.? Unknown g.68835801G>A g.68801898G>A - - CDH1_000080 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - DNA SEQ saliva - CLP - PubMed: Brito 2015, Journal: Brito 2015 - F ? Brazil - - 0 yes - 1 Maria Rita Passos-Bueno
-?/. - c.387+18T>C likely benign r.(=) p.(=) Unknown g.68835814T>C - CDH1(NM_004360.3):c.387+18T>C - chr16_006935 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.387+27C>T VUS r.(=) p.(=) Unknown g.68835823C>T g.68801920C>T - - CDH1_000117 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - 0 - DNA SEQ Saliva - CLP - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - 1 Maria Rita Passos-Bueno
?/. 3i c.387+27C>T VUS r.(=) p.(=) Unknown g.68835823C>T g.68801920C>T - - CDH1_000117 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - 5/1218 chromosomes - 0 - DNA SEQ Saliva - Healthy/Control - PubMed: Brito 2015, Journal: Brito 2015 609 Brazilian controls - - Brazil - - 0 - - 5 Maria Rita Passos-Bueno
Legend   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

This database is one of the InSiGHT gene variant databases