All variants in the MSH2 gene

Information The variants shown are described using the NM_000251.2 transcript reference sequence.

239 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
-/- 5'UTR c.-118T>C r.(=) p.(=) Hetero no - g.47403074T>C - MSH2_000016 - - Maria Laura Gonzalez-Hospital Italiano
-/- 5'UTR c.-118T>C r.(=) p.(=) Hetero no - g.47403074T>C - MSH2_000016 - - Maria Laura Gonzalez-Hospital Italiano
-/- 5'UTR c.-118T>C r.(=) p.(=) Hetero PMS2 - g.47403074T>C - MSH2_000016 - - Carlos Vaccaro-Hospital Italiano
-/- 5'UTR c.-118T>C r.(=) p.(=) Homo no - g.47403074T>C - MSH2_000016 - - Jose Llugdar-Instituto Oulton
-/- 5'UTR c.-118T>C r.(=) p.(=) Hetero no - g.47403074T>C - MSH2_000016 - - Pablo Kalfayan-Hospital Italiano
-/- 5'UTR c.-118T>C r.(=) p.(=) Hetero no - g.47403074T>C - MSH2_000016 - - Carlos Vaccaro-Hospital Italiano
+?/+? 3-6 deletion 3 - 6 exons r.? p.? Hetero no - g.? - DIS3L2_000004 - - Pablo Kalfayan-Hospital Italiano
+/+ 1 deletion of exon 1 . . Hetero EPCAM - deletion of exon 1 - MSH2_000041 - - Marina Antelo-Hospital Udaondo
+/+ 2-3 deletion of exons 2-3 . . Hetero N/A - deletion of exons 2-3 - MSH2_000042 - - Marina Antelo-Hospital Udaondo
-/- 1 c.23C>T r.(?) p.(Thr8Met) Hetero no - g.47403214C>T - MSH2_000022 - - Gonzalo Tabares-CEMA
-/- 1 c.23C>T r.(?) p.(Thr8Met) Hetero no - g.47403214C>T - MSH2_000022 - - Marina Antelo-Hospital Udaondo
+/+ 1 c.130_131delinsG r.(?) p.(Thr44Glyfs*20) Hetero N/A - g.47403321_47403322delinsG - MSH2_000039 - - Silvina Sisterna-Hospital de Comunidad
-?/? 1 c.198C>T r.(=) p.(=) Hetero BRCA2 RECLASSIFIED JULY 2022 g.47403389C>T - MSH2_000051 - - Silvina Sisterna-Hospital de Comunidad
-/- 1i c.211+9C>G r.(=) p.(=) Hetero BRCA2;MSH2 - g.47403411C>G - MSH2_000002 - - Lina Nuñez-Private Practice
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Maria Laura Gonzalez-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Maria Laura Gonzalez-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Maria Laura Gonzalez-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero PMS2 - g.47403411C>G - MSH2_000002 - - Carlos Vaccaro-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Pablo Kalfayan-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Homo MSH2 - g.47403411C>G - MSH2_000002 - - Lina Nuñez-Private Practice
-/- 1i c.211+9C>G r.(=) p.(=) Hetero MLH1 - g.47403411C>G - MSH2_000002 - - Pablo Kalfayan-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero MLH1, MUTYH - g.47403411C>G - MSH2_000002 - - Florencia Petracchi-CEMIC
-/- 1i c.211+9C>G r.(=) p.(=) Homo no - g.47403411C>G - MSH2_000002 - - Jose Llugdar-Instituto Oulton
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Pablo Kalfayan-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero MLH1 - g.47403411C>G - MSH2_000002 - - Lina Nuñez-Hospital Alemán
-/- 1i c.211+9C>G r.(=) p.(=) Homo no - g.47403411C>G - MSH2_000002 - - Florencia Petracchi-CEMIC
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Carlos Vaccaro-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Florencia Petracchi-CEMIC
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Florencia Petracchi-CEMIC
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Pablo Kalfayan-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Homo no - g.47403411C>G - MSH2_000002 - - Pablo Kalfayan-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Homo MLH1 - g.47403411C>G - MSH2_000002 - - Maria Laura Gonzalez-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero MLH1 - g.47403411C>G - MSH2_000002 - - Carlos Vaccaro-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Maria Laura Gonzalez-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Maria Laura Gonzalez-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero MSH2 - g.47403411C>G - MSH2_000002 - - Pablo Kalfayan-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Maria Laura Gonzalez-Hospital Italiano
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Silvina Sisterna-Hospital de Comunidad
./- 1i c.211+9C>G r.(=) p.(=) Homo no - g.47403411C>G - MSH2_000002 - - Silvina Sisterna-Hospital de Comunidad
./- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Silvina Sisterna-Hospital de Comunidad
./- 1i c.211+9C>G r.(=) p.(=) Homo no - g.47403411C>G - MSH2_000002 - - Silvina Sisterna-Hospital de Comunidad
./- 1i c.211+9C>G r.(=) p.(=) Homo no - g.47403411C>G - MSH2_000002 - - Silvina Sisterna-Hospital de Comunidad
./- 1i c.211+9C>G r.(=) p.(=) Hetero BRCA2 - g.47403411C>G - MSH2_000002 - - Silvina Sisterna-Hospital de Comunidad
./- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Silvina Sisterna-Hospital de Comunidad
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Dolores Mansilla-Instituto Roffo
-/- 1i c.211+9C>G r.(=) p.(=) Hetero no - g.47403411C>G - MSH2_000002 - - Lina Nuñez-Private Practice
-/- 1i c.211+98T>C r.(=) p.(=) Hetero no - g.47403500T>C - MSH2_000011 - - Maria Laura Gonzalez-Hospital Italiano
-/- 1i c.211+98T>C r.(=) p.(=) Hetero no - g.47403500T>C - MSH2_000011 - - Maria Laura Gonzalez-Hospital Italiano
-/- 1i c.211+98T>C r.(=) p.(=) Hetero no - g.47403500T>C - MSH2_000011 - - Maria Laura Gonzalez-Hospital Italiano
-/- 1i c.211+98T>C r.(=) p.(=) Hetero PMS2 - g.47403500T>C - MSH2_000011 - - Carlos Vaccaro-Hospital Italiano
-/- 1i c.211+98T>C r.(=) p.(=) Hetero no - g.47403500T>C - MSH2_000011 - - Pablo Kalfayan-Hospital Italiano
-/- 1i c.211+98T>C r.(=) p.(=) Homo MSH2 - g.47403500T>C - MSH2_000011 - - Lina Nuñez-Private Practice
-/- 1i c.211+98T>C r.(=) p.(=) Hetero no - g.47403500T>C - MSH2_000011 - - Pablo Kalfayan-Hospital Italiano
-/- 1i c.211+98T>C r.(=) p.(=) Hetero MLH1 - g.47403500T>C - MSH2_000011 - - Pablo Kalfayan-Hospital Italiano
-/- 1i c.211+98T>C r.(=) p.(=) Hetero MLH1, MUTYH - g.47403500T>C - MSH2_000011 - - Florencia Petracchi-CEMIC
-/- 1i c.211+98T>C r.(=) p.(=) Homo no - g.47403500T>C - MSH2_000011 - - Jose Llugdar-Instituto Oulton
-/- 1i c.211+98T>C r.(=) p.(=) Hetero no - g.47403500T>C - MSH2_000011 - - Pablo Kalfayan-Hospital Italiano
-/- 1i c.211+98T>C r.(=) p.(=) Hetero MLH1 - g.47403500T>C - MSH2_000011 - - Lina Nuñez-Hospital Alemán
-/- 1i c.211+98T>C r.(=) p.(=) Hetero no - g.47403500T>C - MSH2_000011 - - Carlos Vaccaro-Hospital Italiano
+?/+? 2 c.212-?_366+?dup r.spl? p.? Hetero N/A dup exon 2 g.47408401-?_47408555+?dup dup exon 2 MSH2_000025 - - Lina Nuñez-Private Practice
-?/-? 2 c.336C>A r.(=) p.(=) Hetero no - g.47408525C>A - MSH2_000054 - - Lina Nuñez-Private Practice
-?/? 2i c.367-168C>T r.(=) p.(=) Hetero no RECLASSIFIED MARCH 2018 g.47409926C>T - MSH2_000018 - - Maria Laura Gonzalez-Hospital Italiano
-/- 2i c.367-168C>T r.(=) p.(=) Homo no RECLASSIFIED JUNE 2019 g.47409926C>T - MSH2_000018 - - Jose Llugdar-Instituto Oulton
-/- 3 c.380A>G r.(?) p.(Asn127Ser) Hetero no - g.47410107A>G - MSH2_000044 - - Maria Laura Gonzalez-Hospital Italiano
-/- 3 c.380A>G r.(?) p.(Asn127Ser) Hetero no - g.47410107A>G - MSH2_000044 - - Laura Vargas Roig-IMBECU
?/? 3 c.386C>G r.(386c>g) p.(Ser129Cys) Hetero no - g.47410113C>G - MSH2_000065 - - Norma Rossi - Sanatorio Allende
+/+ 3 c.388_389del r.(?) p.(Gln130Valfs*2) Hetero N/A - g.47410115_47410116del - MSH2_000056 - - Maria Laura Gonzalez-Hospital Italiano
+/+ 3 c.388_389delCA r.(?) p.(Gln130Valfs*2) Hetero N/A - g.47410115_47410116delCA - MSH2_000031 - - Marina Antelo-Hospital Udaondo
+/+ 3 c.388_389delCA r.(?) p.(Gln130Valfs*2) Hetero N/A - g.47410115_47410116delCA - MSH2_000031 - - Maria Laura Gonzalez-Hospital Italiano
?/- 3 c.395A>G r.(?) p.(Glu132Gly) Hetero no - g.47410122A>G - MSH2_000059 - - Claudia Martin-Hospital de Córdoba
?/? 3 c.435T>G r.(?) p.(Ile145Met) Hetero no - g.47410162T>G - MSH2_000026 - - Carlos Vaccaro-Hospital Italiano
?/? 3 c.435T>G r.(435u>g) p.Ile145Met Hetero no - g.47410162T>G - MSH2_000026 rs63750124 - Laura Vargas Roig-IMBECU
?/? 3 c.435T>G r.(435u>g) p.Ile145Met Hetero no - g.47410162T>G - MSH2_000026 rs63750124 - Claudia Martin-Hospital de Córdoba
?/? 3 c.458C>G r.(?) p.(Ser153Cys) Hetero no - g.47410185C>G - MSH2_000045 - - Maria Micaela Zicavo-Inst. Diag. La Plata
-/- 3 c.540T>C r.(=) p.(=) Hetero no - g.47410267T>C - MSH2_000046 - - Silvina Sisterna-Hospital de Comunidad
-/- 3 c.573C>T r.(=) p.(=) Hetero no - g.47410300C>T - MSH2_000012 - - Maria Laura Gonzalez-Hospital Italiano
+/+ 4 c.715C>T r.(?) p.(Gln239*) Hetero N/A - g.47412483C>T - MSH2_000033 - - Marina Antelo-Hospital Udaondo
?/? 4 c.759G>A r.(759g>a) (p.Met253Ile). Hetero no - g.47412527G>A - MSH2_000071 rs1060502021 - Guillermo Alberto-Instituto Fleming
+/+ 4i c.792+1G>A r.? p.? Hetero NTHL1 - g.47412561G>A - MSH2_000068 rs267607934 (splice donor) Maria Laura Gonzalez-Hospital Italiano
+/+ 5 c.914_923del r.(?) p.(Ala305Glufs*23) Hetero N/A - g.47414390_47414399del - MSH2_000035 - - Carlos Vaccaro-Hospital Italiano
?/. 5 c.933C>A r.(?) p.(Asn311Lys) Hetero PTEN - g.47414409C>A - MSH2_000028 - - Cecilia Montes-Hospital de Niños de la Santísima Trinidad
?/? 5 c.933C>A r.(?) p.(Asn311Lys) Hetero no - g.47414409C>A - MSH2_000028 - - Claudia Martin-Hospital de Córdoba
?/? 5 c.933C>A r.(933c>a) p.(Asn311Lys) Hetero PALB2 - g.47414409C>A - MSH2_000028 - - Jesica Ramirez-Hospital Central de Mendoza
+?/+? 5i c.942+1G>A r.spl? p.? Hetero N/A - g.47414419G>A - MSH2_000024 - - Carlos Vaccaro-Hospital Italiano
+?/+? 5i c.942+1G>A r.spl? p.? Hetero N/A - g.47414419G>A - MSH2_000024 - - Carlos Vaccaro-Hospital Italiano
+?/+ 5i c.942+1G>A r.spl? p.? Hetero N/A RECLASSIFIED JULY 2022 g.47414419G>A - MSH2_000024 - - Carlos Vaccaro-Hospital Italiano
+/+ 5i c.942+3A>T r.spl? p.? Hetero N/A - g.47414421A>T - MSH2_000004 - - Claudia Martin-Hospital de Córdoba
+/+ 5i c.942+3A>T r.spl? p.? Hetero N/A - g.47414421A>T - MSH2_000004 - - Claudia Martin-Hospital de Córdoba
+/+ 5i c.942+3A>T r.spl? p.? Hetero N/A - g.47414421A>T - MSH2_000004 - - Marina Antelo-Hospital Udaondo
+/+ 5i c.942+3A>T r.spl? p.? Hetero N/A - g.47414421A>T - MSH2_000004 - - Marina Antelo-Hospital Udaondo
+/+ 5i c.942+3A>T r.spl? p.? Hetero N/A - g.47414421A>T - MSH2_000004 - - Marcela Lopez-CEMAFE
-/-? 5i c.942+25_942+29del r.(=) p.(=) Hetero no - g.47414443_47414447del - MSH2_000049 - - Laura Vargas Roig-IMBECU
./- 6 c.965G>A r.(?) p.(Gly322Asp) Hetero no - g.47416318G>A - MSH2_000007 - - Silvina Sisterna-Hospital de Comunidad
-/- 6 c.965G>A r.(?) p.(Gly322Asp) Hetero no - g.47416318G>A - MSH2_000007 - - Dolores Mansilla-Instituto Roffo
+/+ 6 c.970_971delCA r.(?) p.(Gln324Valfs*8) Hetero N/A - g.47416323_47416324delCA - MSH2_000032 - - Marina Antelo-Hospital Udaondo
?/? 6 c.991A>G r.(?) p.(Asn331Asp) Hetero no - g.47416344A>G - MSH2_000047 - - Claudia Martin-Hospital de Córdoba
?/? 6 c.1039A>C r.? p.(Lys347Gln) Hetero no - g.47416392A>C - MSH2_000077 - - Claudia Martin-Hospital de Córdoba
?/? 6 c.1045C>G r.(1045c>g) p.(Pro349Ala) Hetero no - g.47416398C>G - MSH2_000063 - - Jesica Ramirez-Hospital Central de Mendoza
?/? 6 c.1045C>G r.(1045c>g) p.(Pro349Ala) Hetero no - g.47416398C>G - MSH2_000063 - - Claudia Martin-Hospital de Córdoba
-/- 6i c.1077-80G>A r.(=) p.(=) Hetero MLH1 - g.47429662G>A - MSH2_000010 - - Alejandra Mampel-Hospital Universitario de Mendoza
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