Unique variants in gene CDH1


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

352 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 pathogenic, benign r.(=) p.(=) g.68770847delA g.68736944delA -347G>GA, -472G/GA - CDH1_000079 expression cloning significantly increased promoter activity, 1 more item PubMed: Shin 2004, PubMed: Nakamura 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 _1 c.-288delT pathogenic r.(=) p.(=) g.68771031delT g.68737128delT - - CDH1_000078 expression cloning 0.8 activity in luciferase promoter construct PubMed: Nakamura 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 _1 c.-285C>A pathogenic r.(=) p.(=) 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 VUS r.(=) p.(=) 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 VUS r.(=) p.(=) g.68771235G>A g.68737332G>A - - CDH1_000132 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - - - Maria Rita Passos-Bueno
?/. 4 1 c.-71C>G VUS r.(=) p.(=) g.68771248C>G g.68737345C>G - - CDH1_000128 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - 16/1218 chromosomes - - - Maria Rita Passos-Bueno
?/. 1 1 c.-64G>T VUS r.(=) p.(=) g.68771255G>T g.68737352G>T - - CDH1_000097 - - - - Germline - - - - - Andreas Laner
+/., -?/. 2 1 c.-54G>C pathogenic, likely benign r.(=), r.(?) p.(=) g.68771265G>C g.68737362G>C CDH1(NM_004360.4):c.-54G>C (p.?) - CDH1_000076 expression cloning 0.66 activity in luciferase promoter construct, 1 more item PubMed: Nakamura 2002 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL
+/. 1 1 c.3G>A pathogenic r.(?) p.? g.68771321G>A - - - CDH1_000197 - PubMed: Pandalai 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.3G>C pathogenic r.? p.? g.68771321G>C g.68737418G>C M1I - CDH1_000060 - PubMed: Suriano 2005 - - Unknown - - - - - Johan den Dunnen
?/. 1 1 c.22C>T VUS r.(?) p.(Leu8Phe) g.68771340C>T - - - CDH1_000196 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
-?/. 1 - c.27G>A likely benign r.(?) p.(=) g.68771345G>A - CDH1(NM_004360.3):c.27G>A (p.S9=) - CDH1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 1 c.41delT pathogenic r.(?) p.(Leu14Argfs*42) g.68771359delT g.68737456delT - - CDH1_000061 - PubMed: Bacani 2006 - - Germline - - - - - LOVD-team, but with Curator vacancy
-?/. 1 - c.41_46dup likely benign r.(?) p.(Leu14_Leu15dup) g.68771359_68771364dup - CDH1(NM_004360.3):c.41_46dupTGCTGC (p.L14_L15dup) - CDH1_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 1 c.44dupT pathogenic r.(?) p.(Gln16Alafs*18) g.68771362dup g.68737459dupT - - CDH1_000062 - PubMed: Oliveira 2002 - - Germline - - - - - LOVD-team, but with Curator vacancy
+?/., +/. 3 1i c.48+1G>A ACMG: 5, pathogenic r.spl?, r.spl p.? g.68771367G>A - IVS1+1G>A - CDH1_000195 ACMG grading: PVS1, PM2, PP5 (=class 5) PubMed: Pandalai 2011, PubMed: Petridis 2014 - - Germline ? - - - - Andreas Laner, Johan den Dunnen
-/., -?/. 3 - c.48+5C>G benign, likely benign r.spl? p.? g.68771371C>G - CDH1(NM_004360.3):c.48+5C>G (p.?) - CDH1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 3 - c.48+6C>T benign r.(=) p.(=) g.68771372C>T - CDH1(NM_004360.3):c.48+6C>T (p.?) - CDH1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 1i c.48+7C>G likely benign r.(=) p.(=) 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 VUS r.(=) p.(=) 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 2 c.54delC pathogenic r.(?) p.(Ser19Leufs*37) g.68772205delC g.68738302delC - - CDH1_000065 - PubMed: Humar 2002 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 2 c.59G>A pathogenic r.(?) p.(Trp20*) g.68772210G>A g.68738307G>A - - CDH1_000067 - PubMed: Richards 1999, OMIM:var0009 - - Germline - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.61C>G VUS r.(?) p.(Leu21Val) g.68772212C>G - - - CDH1_000199 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12486 controls - - - Yukihide Momozawa
+/. 1 2 c.70G>T pathogenic r.(?) p.(Glu24*) g.68772221G>T g.68738318G>T - - CDH1_000069 - PubMed: Guilford 1999 - - Germline - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.80C>G VUS r.(?) p.(Pro27Arg) g.68772231C>G - - - CDH1_000200 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12486 controls - - - Yukihide Momozawa
./., -?/., ?/. 6 2 c.88C>A likely benign, VUS r.(?) p.(Pro30Thr) 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) - - Germline, CLASSIFICATION record - - - - - Melissa DeRycke, VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 2 c.130C>A VUS r.(?) p.(Arg44Ser) g.68772281C>A - - - CDH1_000198 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/11241 controls - - - Yukihide Momozawa
?/. 2 2 c.154C>T VUS r.(?) p.(=) g.68772305C>T - - - CDH1_000201 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs374569322 Germline - 1/7051 cases breast cancer, 1/12486 controls - - - Yukihide Momozawa
+/. 1 - c.163+2T>A pathogenic r.spl? p.? g.68772316T>A - CDH1(NM_004360.3):c.163+2T>A (p.?) - CDH1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 2i c.163+43G>T benign r.(=) p.(=) g.68772357G>T g.68738454G>T - - CDH1_000093 - - - - Germline - - - - - Andreas Laner
./. 1 3 c.164T>G - r.spl? p? g.68835573T>G g.68801670T>G - - CDH1_000136 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
-/., +/., ?/. 5 3 c.185G>T benign, pathogenic, VUS r.(?) p.(Gly62Val) g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018, PubMed: Shinmura 1999 - rs786203727 Germline - 14/7051 cases breast cancer, 47/11241 controls, 43/12490 controls, 1/11241 controls - - - Yukihide Momozawa, LOVD-team, but with Curator vacancy
+/. 1 3 c.187C>T pathogenic r.(?) p.(Arg63*) g.68835596C>T g.68801693C>T - - CDH1_000035 - PubMed: Gayther 1998 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 3 c.190C>T pathogenic r.(?) p.(Gln64*) g.68835599C>T g.68801696C>T - - CDH1_000037 - PubMed: Guilford 1999 - - Germline - - - - - LOVD-team, but with Curator vacancy
./., ?/. 2 3 c.214G>A VUS r.(?) p.(Asp72Asn) g.68835623G>A g.68801720G>A - - CDH1_000137 not in 7051 cases breast cancer Thibodeau lab (Mayo Clinic), PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs35606263 Germline - 1/11241 controls - - - Melissa DeRycke, Yukihide Momozawa
+/. 1 3 c.220C>T pathogenic r.(?) p.(Arg74*) g.68835629C>T - - - CDH1_000202 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 3 c.226A>G VUS r.(?) p.(Lys76Glu) g.68835635A>G - - - CDH1_000203 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 - c.233G>A VUS r.(?) p.(Gly78Asp) g.68835642G>A - - - CDH1_000205 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587781404 Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 3 c.235A>G VUS r.(?) p.(Thr79Ala) g.68835644A>G - - - CDH1_000204 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs745327620 Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
+/. 1 3 c.241_244dup pathogenic r.(?) p.(Val82Glyfs*13) g.68835650_68835653dup g.68801747_68801750dup 241_244dupGGTG - CDH1_000053 - PubMed: Christgen 2008 - - Germline - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.242_244del VUS r.(?) p.(Gly81del) g.68835651_68835653del - 242_244delGTG - CDH1_000336 - - - - Unknown - - - - - IMGAG
?/. 1 - c.244G>T VUS r.(?) p.(Val82Leu) g.68835653G>T - - - CDH1_000207 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 - c.269G>A VUS r.(?) p.(Arg90Gln) g.68835678G>A - - - CDH1_000208 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587782647 Germline - 1/12490 controls - - - Yukihide Momozawa
+/. 2 3 c.283C>T pathogenic r.(?) p.(Gln95*) g.68835692C>T g.68801789C>T - - CDH1_000055 - PubMed: Dassaulx-Garin 2001 - - Germline, Unknown - - - - - LOVD-team, but with Curator vacancy, Nancy Uhrhammer
?/. 1 - c.294C>T VUS r.(?) p.(=) g.68835703C>T - - - CDH1_000209 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 3 c.298G>A VUS r.(?) p.(Val100Ile) g.68835707G>A - - - CDH1_000206 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
?/., -?/. 3 3 c.324A>G VUS, likely benign r.(=), r.(?) p.(=) g.68835733A>G g.68801830A>G CDH1(NM_004360.3):c.324A>G (p.=) - CDH1_000130 VKGL data sharing initiative Nederland PubMed: Brito 2015, Journal: Brito 2015 - - Germline, CLASSIFICATION record - 6/1218 chromosomes - - - Maria Rita Passos-Bueno, VKGL-NL
?/. 1 3 c.326A>T VUS r.(?) p.(Lys109Met) g.68835735A>T - - - CDH1_000210 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
-?/. 1 - c.337A>G likely benign r.(?) p.(Lys113Glu) g.68835746A>G - CDH1(NM_004360.3):c.337A>G (p.Lys113Glu) - CDH1_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.344C>T VUS r.(?) p.(Thr115Met) g.68835753C>T - - - CDH1_000212 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs370973869 Germline - 1/12490 controls - - - Yukihide Momozawa
-/., ?/. 4 3 c.345G>A benign, VUS r.(?), r.(=) p.(=) g.68835754G>A g.68801851G>A CDH1(NM_004360.3):c.345G>A (p.=) - CDH1_000131 VKGL data sharing initiative Nederland PubMed: Brito 2015, Journal: Brito 2015 - - CLASSIFICATION record, Germline - 6/1218 chromosomes - - - VKGL-NL_VUmc, Maria Rita Passos-Bueno, VKGL-NL_Nijmegen
+/. 1 3 c.353C>G pathogenic r.(?) p.(Thr118Arg) g.68835762C>G g.68801859C>G - - CDH1_000056 - PubMed: Suriano 2006 - - Germline - - - - - LOVD-team, but with Curator vacancy
?/. 1 3 c.353C>T VUS r.(?) p.(Thr118Ile) g.68835762C>T - - - CDH1_000211 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 2 3 c.363C>G VUS r.(?) p.(His121Gln) g.68835772C>G - - - CDH1_000213 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls, 2/12490 controls - - - Yukihide Momozawa
?/. 4 3 c.370C>T VUS r.(?) p.(Arg124Cys) g.68835779C>T - - - CDH1_000214 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs748086082 Germline - 2/7051 cases breast cancer, 7/11241 controls, 4/12490 controls, 1/11241 controls - - - Yukihide Momozawa
+/. 1 3 c.372_377del pathogenic r.(?) p.(Pro126_Pro127del) g.68835781_68835786del g.68801878_68801883del 372_377delCCCCCC - CDH1_000057 - PubMed: Keller 1999 - - Germline - - - - - LOVD-team, but with Curator vacancy
?/. 1 3 c.374C>T VUS r.(?) p.(Pro125Leu) g.68835783C>T - - - CDH1_000215 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
-/., ?/. 3 3 c.377C>A benign, VUS r.(?) p.(Pro126Gln) g.68835786C>A - - - CDH1_000216 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs746703615 Germline - 4/7051 cases breast cancer, 2/11241 controls, 5/12490 controls - - - Yukihide Momozawa
+/. 1 3 c.377delC pathogenic r.(?) p.(Pro126Argfs*89) g.68835786delC g.68801883delC 377delC - CDH1_000058 - PubMed: Keller 1999 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 3 c.377dup pathogenic r.(?) p.(Pro127Alafs*41) g.68835786dup g.68801883dup - - CDH1_000094 - - - - Germline - - - - - Andreas Laner
-/. 1 3 c.378G>A benign r.(?) p.(=) g.68835787G>A - - - CDH1_000217 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786201504 Germline - 1/11241 controls - - - Yukihide Momozawa
+/. 1 3 c.382delC pathogenic r.(?) p.(His128Ilefs*87) g.68835791delC g.68801888delC - - CDH1_000059 - PubMed: Brooks-Wilson 2004 - - Germline - - - - - LOVD-team, but with Curator vacancy
+?/. 1 3i c.387+5G>A likely pathogenic r.spl? p.? g.68835801G>A g.68801898G>A - - CDH1_000080 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - - - Maria Rita Passos-Bueno
-?/. 1 - c.387+18T>C likely benign r.(=) p.(=) g.68835814T>C - CDH1(NM_004360.3):c.387+18T>C - CDH1_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 3i c.387+27C>T VUS r.(=) p.(=) g.68835823C>T g.68801920C>T - - CDH1_000117 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - 5/1218 chromosomes - - - Maria Rita Passos-Bueno
-?/. 1 - c.387+28G>A likely benign r.(=) p.(=) g.68835824G>A - CDH1(NM_004360.3):c.387+28G>A (p.?) - CDH1_000343 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 4 c.400G>A VUS r.(?) p.(Gly134Arg) g.68842339G>A - - - CDH1_000218 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 4 c.431A>G VUS r.(?) p.(Asn144Ser) g.68842370A>G - - - CDH1_000219 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
?/. 1 4 c.438T>C VUS r.(?) p.(=) g.68842377T>C - - - CDH1_000220 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 2 4 c.456G>C VUS r.(?) p.(Gln152His) g.68842395G>C - - - CDH1_000221 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs745589555 Germline - 3/7051 cases breast cancer, 1/12490 controls - - - Yukihide Momozawa
-/. 1 - c.480C>T benign r.(?) p.(=) g.68842419C>T - - - CDH1_000223 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs769371658 Germline - 2/12490 controls - - - Yukihide Momozawa
?/. 1 - c.499G>A VUS r.(?) p.(Glu167Lys) g.68842438G>A - CDH1(NM_004360.3):c.499G>A (p.E167K) - CDH1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 4 c.515C>G pathogenic r.(?) p.(Pro172Arg) g.68842454C>G g.68808551C>G - - CDH1_000063 - PubMed: Avizienyte 2001 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 4 c.521dupA pathogenic r.(?) p.(Asn174Lysfs*25) g.68842460dup g.68808557dupA - - CDH1_000064 - PubMed: Masciari 2007 - - Germline - - - - - LOVD-team, but with Curator vacancy
-?/. 1 - c.531+3A>G likely benign r.spl? p.? g.68842473A>G - CDH1(NM_004360.3):c.531+3A>G (p.?) - CDH1_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -/., -?/. 6 4i c.531+10G>C VUS, benign, likely benign r.(=) p.(=) g.68842480G>C g.68808577G>C CDH1(NM_004360.3):c.531+10G>C (p.?) - CDH1_000118 VKGL data sharing initiative Nederland PubMed: Brito 2015, Journal: Brito 2015 - - Germline, CLASSIFICATION record - 35/1218 chromosomes - - - Maria Rita Passos-Bueno, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Leiden
?/. 1 4i c.532-27dupA VUS r.(?) p.(=) g.68842569dupA g.68808666dupA 532-27_-26insA - CDH1_000119 not in 609 Brazilian controls PubMed: Brito 2015, Journal: Brito 2015 - - Germline - 1/219 cases - - - Maria Rita Passos-Bueno
?/., -/., -?/. 7 4i c.532-18C>T VUS, benign, likely benign r.(=) p.(=) g.68842578C>T g.68808675C>T CDH1(NM_004360.3):c.532-18C>T (p.?) - CDH1_000095 VKGL data sharing initiative Nederland PubMed: Brito 2015, Journal: Brito 2015 - - Germline, CLASSIFICATION record ? 4/1218 chromosomes - - - Maria Rita Passos-Bueno, VKGL-NL_VUmc, VKGL-NL_Groningen, Andreas Laner, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.535A>G likely pathogenic r.(?) p.(Lys179Glu) g.68842599A>G - CDH1(NM_004360.4):c.535A>G (p.Lys179Glu) - CDH1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 5 c.546A>C benign r.(?) p.(Lys182Asn) g.68842610A>C - - - CDH1_000222 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201141645 Germline - 10/7051 cases breast cancer, 19/11241 controls, 16/12489 controls - - - Yukihide Momozawa
?/. 1 5 c.576C>A VUS r.(?) p.(=) g.68842640C>A - - - CDH1_000224 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
+/. 1 - c.583C>T pathogenic r.(?) p.(Gln195*) g.68842647C>T - - - CDH1_000194 - - - - Unknown - - - - - IMGAG
+/. 1 5 c.586G>T pathogenic r.(?) p.(Gly196*) g.68842650G>T g.68808747G>T - - CDH1_000066 - PubMed: Guilford 1999 - - Germline - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.600C>T VUS r.(?) p.(=) g.68842664C>T - - - CDH1_000226 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12489 controls - - - Yukihide Momozawa
-/. 5 5 c.604G>A benign r.(?) p.(Val202Ile) g.68842668G>A - CDH1(NM_004360.3):c.604G>A (p.Val202Ile) - CDH1_000225 VKGL data sharing initiative Nederland PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs546716073 Germline, CLASSIFICATION record - 4/7051 cases breast cancer, 5/11241 controls, 6/12489 controls - - - Yukihide Momozawa, VKGL-NL_AMC, VKGL-NL_Nijmegen
?/. 1 - c.614T>C VUS r.(?) p.(Phe205Ser) g.68842678T>C - CDH1(NM_004360.3):c.614T>C (p.Phe205Ser) - CDH1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 5 c.636A>G benign r.(?) p.(=) g.68842700A>G - - - CDH1_000227 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs758991562 Germline - 2/7051 cases breast cancer, 3/11241 controls, 2/12489 controls - - - Yukihide Momozawa
+/. 1 5 c.641T>C pathogenic r.(?) p.(Leu214Pro) g.68842705T>C g.68808802T>C - - CDH1_000068 - PubMed: Suriano 2006 - - Germline - - - - - LOVD-team, but with Curator vacancy
?/. 1 5 c.652G>A VUS r.(?) p.(Glu218Lys) g.68842716G>A - - - CDH1_000228 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
-?/. 1 - c.670C>T likely benign r.(?) p.(Arg224Cys) g.68842734C>T - CDH1(NM_004360.4):c.670C>T (p.Arg224Cys) - CDH1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 5 c.671G>A - r.(?) p.(Arg224His) g.68842735G>A g.68808832G>A - - CDH1_000138 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 5 c.679A>G - r.(?) p.(Thr227Ala) g.68842743A>G g.68808840A>G - - CDH1_000139 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
-?/. 1 - c.687+21del likely benign r.(=) p.(=) g.68842772del - CDH1(NM_004360.3):c.687+21delT - CDH1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 5i c.687+144G>A VUS r.(=) p.(=) g.68842895G>A g.68808992G>A - - CDH1_000120 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - 235/1218 chromosomes - - - Maria Rita Passos-Bueno
-/. 1 - c.690C>T benign r.(?) p.(=) g.68844102C>T - - - CDH1_000230 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs863224397 Germline - 1/12490 controls - - - Yukihide Momozawa
-/. 1 6 c.699C>T benign r.(?) p.(=) g.68844111C>T - - - CDH1_000229 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs115494727 Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
-/. 1 6 c.712A>G benign r.(?) p.(Asn238Asp) g.68844124A>G - - - CDH1_000231 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
+/. 1 6 c.715G>A pathogenic r.(?) p.(Gly239Arg) g.68844127G>A g.68810224G>A - - CDH1_000070 - PubMed: More 2007 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 6 c.731A>G pathogenic r.(?) p.(Asp244Gly) g.68844143A>G g.68810240A>G - - CDH1_000071 - PubMed: Yoon 1999 - - Germline - - - - - LOVD-team, but with Curator vacancy
?/. 1 6 c.735A>C VUS r.(?) p.(=) g.68844147A>C - - - CDH1_000232 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
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This database is one of the InSiGHT gene variant databases