All variants in the PALB2 gene

Information The variants shown are described using the NM_024675.3 transcript reference sequence.

125 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     
+?/+? 11 exon 11 dup =(?) Hetero no =(?) =(?) - PALB2_000033 Luisina Bruno-Instituto Alexander Fleming
?/? 1-12 exons 1-12 duplication p.(?) Hetero no r.(?) exons 1-12 duplication - PALB2_000022 Santiago Acevedo-Hospital Británico (Servicio de Mastología)
+/+ 1 c.7G>T p.(Glu3*) Hetero N/A r.(?) g.23641151C>A - PALB2_000003 Lina Nuñez-Hospital Alemán
+/+ 1 c.7G>T p.(Glu3*) Hetero N/A r.(?) g.23641151C>A - PALB2_000003 Marcela Lopez-CEMAFE
+/+ 1 c.7G>T p.(Glu3*) Hetero N/A r.(?) g.23641151C>A - PALB2_000003 Luisina Bruno-Instituto Alexander Fleming
+/+ 1 c.43G>T p.(Glu15*) Hetero N/A r.(?) g.23641115C>A - PALB2_000032 Carolina Ponce-Instituto Alexander Fleming
?/? 4 c.896C>T p.(Ser299Phe) Hetero no r.(?) g.23635650G>A - PALB2_000037 José Llugdar-IMOC
?/-? 4 c.1010T>C p.(Leu337Ser) Hetero BRCA1 r.(?) g.23635536A>G - PALB2_000014 Norma Rossi-Hospital Privado Centro Médico de Córdoba
?/-? 4 c.1010T>C p.(Leu337Ser) Hetero no r.(?) g.23635536A>G - PALB2_000014 Claudia Martin-Hospital Privado Centro Médico de Córdoba
./-? 4 c.1010T>C p.(Leu337Ser) Hetero no r.(?) g.23635536A>G - PALB2_000014 Silvina Sisterna-Hospital Privado
-/-? 4 c.1010T>C p.(Leu337Ser) Hetero no r.(?) g.23635536A>G - PALB2_000014 Erika Stegmayer-CIOC
+/+ 4 c.1042C>T p.(Gln348*) Hetero N/A r.(?) g.23635504G>A - PALB2_000035 Luisina Bruno-Instituto Alexander Fleming
+/+ 4 c.1192del p.(Val398Cysfs*26) Hetero N/A r.(?) g.23635354del - PALB2_000038 Claudia Martin-Hospital Privado Centro Médico de Córdoba
?/? 4 c.1222T>C p.(Tyr408His) Hetero no r.(?) g.23635324A>G - PALB2_000013 Alvaro Yanzi-Instituto San Marcos
./+ 4 c.1240C>T p.(Arg414*) Hetero N/A r.(?) g.23635306G>A - PALB2_000031 Alejandra Mampel-COIR
+/+ 4 c.1240C>T p.(Arg414*) Hetero P53 r.(?) g.23635306G>A - PALB2_000031 Alejandra Mampel-COIR
?/-? 4 c.1273G>A p.(Val425Met) Hetero no r.(?) g.23635273C>T Reclassified November 2020 PALB2_000010 Rita Valdez-Hospital Alemán
./-? 4 c.1572A>G p.(=) Hetero no r.(=) g.23634974T>C - PALB2_000020 Silvina Sisterna-Hospital Privado
+/+ 4 c.1592del p.(Leu531Cysfs*30) Hetero N/A r.(?) g.23634954del - PALB2_000023 Alejandra Mampel-COIR
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Alejandra Mampel-Hospital Universitario de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Patricia Quaglio-Consultorio AGO Lab CIGEN
+/+ 4 c.1653T>A p.(Tyr551*) Hetero BRCA2 r.(?) g.23634893A>T - PALB2_000001 Alvaro Yanzi-Instituto San Marcos
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Cecilia Montes-IMGO
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Lina Nuñez-Hospital Alemán
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Luisina Bruno-Instituto Alexander Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Luisina Bruno-Instituto Alexander Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Alejandra Mampel-COIR
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Alejandra Mampel-COIR
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Alejandra Mampel-Hospital Universitario de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Alejandra Mampel-COIR
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Alejandra Mampel-COIR
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Alejandra Mampel-Hospital Universitario de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Silvina Sisterna-Hospital Privado
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Norma Rossi-Hospital Privado Centro Médico de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Maria Cecilia Riggi-Hospital Italiano
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Carolina Ponce-Instituto Alexander Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Carolina Ponce-Instituto Alexander Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Luisina Bruno-Instituto Alexander Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Cecilia Montes-IMGO
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Laura Vargas Roig-IMBECU
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Laura Vargas Roig-IMBECU
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) g.23634893A>T - PALB2_000001 Claudia Martin-Hospital Privado Centro Médico de Córdoba
-/-? 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) g.23634870T>C - PALB2_000004 Laura Vargas Roig-IMBECU
-/-? 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) g.23634870T>C - PALB2_000004 Alejandra Mampel-Hospital Universitario de Mendoza
-/-? 4 c.1676A>G p.(Gln559Arg) Hetero BRCA1 r.(?) g.23634870T>C - PALB2_000004 Gonzalo Tabares-CEMA
-/- 4 c.1676A>G p.(Gln559Arg) Hetero BRCA2 r.(?) g.23634870T>C Reclassified June 2019 PALB2_000004 Gonzalo Tabares-CEMA
-/- 4 c.1676A>G p.(Gln559Arg) Hetero BRCA2 r.(?) g.23634870T>C - PALB2_000004 Claudia Martin-Hospital Privado Centro Médico de Córdoba
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) g.23634870T>C - PALB2_000004 Silvina Sisterna-Hospital Privado
./- 4 c.1676A>G p.(Gln559Arg) Not specified no r.(?) g.23634870T>C - PALB2_000004 Silvina Sisterna-Hospital Privado
-/- 4 c.1676A>G p.(Gln559Arg) Homo no r.(?) g.23634870T>C - PALB2_000004 Silvina Sisterna-Hospital Privado
./- 4 c.1676A>G p.(Gln559Arg) Not specified ATM r.(?) g.23634870T>C - PALB2_000004 Silvina Sisterna-Hospital Privado
./- 4 c.1676A>G p.(Gln559Arg) Not specified no r.(?) g.23634870T>C - PALB2_000004 Silvina Sisterna-Hospital Privado
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) g.23634870T>C - PALB2_000004 Silvina Sisterna-Hospital Privado
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) g.23634870T>C - PALB2_000004 Silvina Sisterna-Hospital Privado
./- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) g.23634870T>C - PALB2_000004 Silvina Sisterna-Hospital Privado
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) g.23634870T>C - PALB2_000004 Erika Stegmayer - Inst. Nuestra Señora de las Mercedes
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) g.23634870T>C - PALB2_000004 Erika Stegmayer-CIOC
./- 4 c.1676A>G p.(Gln559Arg) Homo no r.(?) g.23634870T>C - PALB2_000004 Silvina Sisterna-Hospital Privado
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) g.23634870T>C - PALB2_000004 Lina Nuñez-Private Practice
-/-? 5 c.1767G>A p.(=) Hetero no r.(=) g.23630387C>T - PALB2_000007 Alejandra Mampel-Hospital Universitario de Mendoza
+?/+ 5 c.1838delA p.(Gln613Argfs*15) Hetero no r.(?) g.23630316delT Reclassified November 2020 PALB2_000009 Gonzalo Tabares-CEMA
+/+ 5 c.1959T>A p.(Cys653*) Hetero N/A r.(?) g.23630195A>T - PALB2_000018 Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+ 5 c.1959T>A p.(Cys653*) Hetero N/A r.(?) g.23630195A>T - PALB2_000018 Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+ 5 c.1959T>A p.(Cys653*) Hetero N/A r.(?) g.23630195A>T - PALB2_000018 Claudia Martin-Hospital Privado Centro Médico de Córdoba
-/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?) g.23630140C>G - PALB2_000006 Alejandra Mampel-Hospital Universitario de Mendoza
-/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?) g.23630140C>G - PALB2_000006 Alejandra Mampel-Hospital Universitario de Mendoza
-?/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?) g.23630140C>G - PALB2_000006 Laura Vargas Roig-IMBECU
-/-? 5 c.2014G>C p.(Glu672Gln) Hetero BRCA2 r.(?) g.23630140C>G - PALB2_000006 Claudia Martin-Hospital Privado Centro Médico de Córdoba
-?/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?) g.23630140C>G - PALB2_000006 Silvina Sisterna-Hospital Privado
./-? 5 c.2014G>C p.(Glu672Gln) Not specified no r.(?) g.23630140C>G - PALB2_000006 Silvina Sisterna-Hospital Privado
-?/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?) g.23630140C>G - PALB2_000006 Silvina Sisterna-Hospital Privado
./-? 5 c.2014G>C p.(Glu672Gln) Not specified ATM r.(?) g.23630140C>G - PALB2_000006 Silvina Sisterna-Hospital Privado
./-? 5 c.2014G>C p.(Glu672Gln) Not specified no r.(?) g.23630140C>G - PALB2_000006 Silvina Sisterna-Hospital Privado
-/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?) g.23630140C>G - PALB2_000006 Silvina Sisterna-Hospital Privado
-/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?) g.23630140C>G - PALB2_000006 Erika Stegmayer - Inst. Nuestra Señora de las Mercedes
./- 5 c.2014G>C p.(Glu672Gln) Homo no r.(?) g.23630140C>G Reclassified November 2020 PALB2_000006 Silvina Sisterna-Hospital Privado
?/? 5 c.2078A>T p.(His693Leu) Hetero no r.(?) g.23630076T>A - PALB2_000016 Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?) g.23629936G>A - PALB2_000034 Luisina Bruno-Instituto Alexander Fleming
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?) g.23629936G>A - PALB2_000034 Luisina Bruno-Instituto Alexander Fleming
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?) g.23629936G>A - PALB2_000034 Luisina Bruno-Instituto Alexander Fleming
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?) g.23629936G>A - PALB2_000034 Cecilia Montes-IMGO
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?) g.23629936G>A - PALB2_000034 Virginia Miretti - Hospital de Cordoba
+/+ 5 c.2257C>T p.(Arg753*) Hetero N/A r.(?) g.23629897G>A - PALB2_000026 Silvina Sisterna-Hospital Privado
+/+ 5 c.2336C>G p.(Ser779*) Hetero ATM r.(?) g.23629818G>C - PALB2_000025 Silvia Avila-Cons. y Lab. de Genetica
+/+ 5 c.2336C>G p.(Ser779*) Hetero N/A r.(?) g.23629818G>C - PALB2_000025 Carolina Ponce-Instituto Alexander Fleming
+/+ 5 c.2336C>G p.(Ser779*) Hetero N/A r.(?) g.23629818G>C - PALB2_000025 Maria Constanza Vallone-Hospital Austral
?/? 5 c.2506G>A p.(Val836Ile) Hetero no r.(?) g.23629648C>T - PALB2_000019 Lina Nuñez-Private Practice
-?/-? 7 c.2590C>T p.(Pro864Ser) Hetero no r.(?) g.23626394G>A - PALB2_000002 Lina Nuñez-Hospital Alemán
-/-? 8 c.2794G>A p.(Val932Met) Hetero no r.(?) g.23624049C>T - PALB2_000012 Pablo Kalfayan-Hospital Italiano
+/. 9 c.2872_2875del p.(Gln958Tyrfs*3) Hetero no r.(?) g.23623090_23623093del - PALB2_000036 Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+ 9 c.2964del p.(Val989*) Hetero N/A r.(?) g.23623001del - PALB2_000021 Lina Nuñez-Hospital Alemán
+/+ 9 c.2964delA p.(Val989*) Hetero N/A r.(?) g.23623001delT - PALB2_000024 Alejandra Mampel-Hospital Universitario de Mendoza
+/+ 9 c.2964delA p.(Val989*) Hetero N/A r.(?) g.23623001delT - PALB2_000024 Silvia Avila-Cons. y Lab. de Genetica
+/+ 9 c.2964delA p.(Val989*) Hetero N/A r.(?) g.23623001delT - PALB2_000024 Cecilia Montes-IMGO
-/-? 9 c.2993G>A p.(Gly998Glu) Hetero no r.(?) g.23622972C>T - PALB2_000008 Alejandra Mampel-Hospital Universitario de Mendoza
-?/-? 9 c.2993G>A p.(Gly998Glu) Hetero no r.(?) g.23622972C>T - PALB2_000008 Laura Vargas Roig-IMBECU
-/-? 9 c.2993G>A p.(Gly998Glu) Hetero BRCA2 r.(?) g.23622972C>T - PALB2_000008 Claudia Martin-Hospital Privado Centro Médico de Córdoba
-?/-? 9 c.2993G>A p.(Gly998Glu) Hetero no r.(?) g.23622972C>T - PALB2_000008 Silvina Sisterna-Hospital Privado
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