Full data view for gene MLH1

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

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero MLH1 - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 16-may-2017 CEMIC - - - European - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 18-nov-2015 CEMIC - - -- Spanish-Italian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Homo no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 27-mar-2017 Genia - - - Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Homo no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 30-jun-2017 Genia - - - Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 11-jul-2017 CEMIC - - - Spanish-Venezuelan - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero MSH2 - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 11-nov-2016 CEMIC - - Colon cancer Argentinian - - Colon cancer 1 Lina Nuñez-Private Practice
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero MLH1, MUTYH - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 14-aug-2017 CEMIC - - -- Italian-French-Bolivian - - - 1 Florencia Petracchi-CEMIC
-/- 8 c.655A>G r.(?) p.(Ile219Val) Homo no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 5-mar-2018 Clinica Universitaria Reina Fabiola - - - Spanish - - - 1 Jose Llugdar-Instituto Oulton
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 24-nov-2015 CEMIC - - - Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero MLH1 - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 2-may-2018 Domeq&, Lafage Lynch Panel - Colon cancer Spanish-Basque - - Colon cancer 1 Lina Nuñez-Hospital Alemán
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 26-apr-2018 CEMIC - Specific pathology panel - Spanish - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 2-aug-2018 CEMIC - Specific pathology panel - Spanish-Japanese - - - 1 Florencia Petracchi-CEMIC
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero EPCAM - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 13-dec-2018 Domeq&, Lafage - Specific pathology panel Colon cancer Spanish-Italian - CIA (antec pnales/explica cuadro clínico?) Colon cancer 1 Lina Nuñez-Hospital Alemán
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero PMS2 - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 16-aug-2018 Genia - Specific pathology - Italian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 25-oct-2018 CEMIC - Specific pathology N/A Spanish - - Colorectal cancer 1 Pablo Kalfayan-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero MLH1 - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 24-apr-2017 Cibic - Specific pathology - Not available - CIA (antec ambos/explica cuadro) - 1 Marina Antelo-Hospital Udaondo
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero MUTYH - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 16-apr-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology - Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero MSH2 - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 15-jan-2020 Genia - Specific pathology - Argentinian - CIA (antec ambos/explica cuadro) - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 11-jan-2017 High Medic Group - Specific pathology - Not available - - - 1 Marina Antelo-Hospital Udaondo
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 22-mar-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology -- Spanish - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 1-jul-2019 Genia - Specific pathology -- Spanish-French - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 13-aug-2019 CEMIC - Specific pathology - Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 25-nov-2019 CEMIC - Multigenetic panel - Italian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 27-sep-2019 Domeq&, Lafage - Multigenetic panel Pancreatic cancer Italian - - Breast cancer, Colon cancer, Ovarian cancer, Pancreatic cancer 1 Lina Nuñez-Private Practice
./- 8 c.655A>G r.(?) p.(Ile219Val) Not specified no - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Spanish-Italian - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 8 c.655A>G r.(?) p.(Ile219Val) Not specified no - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel N/A Spanish-Lebanese - - Breast cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 8 c.655A>G r.(?) p.(Ile219Val) Not specified no - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 26-dec-2019 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53) Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 8 c.655A>G r.(?) p.(Ile219Val) Not specified no - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 24-sep-2019 IACA - Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 16-aug-2019 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) Multigenetic panel Breast cancer, Kidney cancer Spanish-Italian - - Breast cancer, Kidney cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 8 c.655A>G r.(?) p.(Ile219Val) Not specified no - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 9-dec-2019 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 24-apr-2019 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 8 c.655A>G r.(?) p.(Ile219Val) Homo no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 9-sep-2019 CEMIC - Multigenetic panel - Spanish - - - 1 Dolores Mansilla-Instituto Roffo
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 26-feb-2019 Genia (deriv. Hospital Italiano) Specific pathology -- Spanish-Itailian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 22-nov-2019 Biogenotec Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM) Multigenetic panel - Unknown - - - 1 Laura Vargas Roig-IMBECU
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 10-oct-2019 Domeq&, Lafage - Multigenetic panel - Caucasian - - - 1 Erika Stegmayer-CIOC
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 13-apr-2020 CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 8 c.655A>G r.(?) p.(Ile219Val) Homo no - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 4-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanis-Ashkenazi - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 8 c.655A>G r.(?) p.(Ile219Val) Hetero BRCA2 - Unknown g.37012077A>G - MLH1_000004 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Brazilian-Italian-German - (antec. ambos/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 3-feb-2017 Cibic - Specific pathology - Not available - - - 1 Marina Antelo-Hospital Udaondo
-/- 8 c.655A>G r.(?) p.(Ile219Val) Hetero no - Unknown g.37012077A>G - MLH1_000004 - - DNA SEQ-NG 3-oct-2019 CEMIC - Multigenetic panel - Italian - - - 1 Dolores Mansilla-Instituto Roffo
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