All variants in the PALB2 gene

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

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

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
+?/+? 11 exon 11 dup =(?) Hetero no =(?) - =(?) - PALB2_000033 - - Luisina Bruno-Instituto Fleming
+?/+? 11 exon 11 dup =(?) Hetero no =(?) - =(?) - PALB2_000033 - - Silvina Sisterna-Hospital de Comunidad
?/? 1-12 exons 1-12 duplication p.(?) Hetero no r.(?) - exons 1-12 duplication - PALB2_000022 - - Santiago Acevedo-Hospital Británico (Servicio de Mastologiía)
+/+ 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 Fleming
?/? 1 c.13C>T p.(Pro5Ser) Hetero no r.(13c>u) - g.23641145G>A - PALB2_000046 - - Pablo Kalfayan-Hospital Italiano
+/+ 1 c.43G>T p.(Glu15*) Hetero N/A r.(?) - g.23641115C>A - PALB2_000032 - - Carolina Ponce-Instituto Fleming
?/? 4 c.880A>G p.(Lys294Glu) Hetero no r.(880a>g) - g.23635666T>C - PALB2_000042 - - Silvina Sisterna-Hospital de Comunidad
?/-? 4 c.880A>G p.(Lys294Glu) Hetero no r.(880a>g) - g.23635666T>C - PALB2_000042 - - Silvina Sisterna-Hospital de Comunidad
?/? 4 c.896C>T p.(Ser299Phe) Hetero no r.(?) - g.23635650G>A - PALB2_000037 - - Jose Llugdar-IMOC
+?/+? 4 c.948del p.(Thr317Glnfs*5) Hetero no r.(948del) - g.23635600del - PALB2_000039 - - Silvina Sisterna-Hospital de Comunidad
?/-? 4 c.1010T>C p.(Leu337Ser) Hetero BRCA1 r.(?) - g.23635536A>G - PALB2_000014 - - Norma Rossi-Hospital de Córdoba
?/-? 4 c.1010T>C p.(Leu337Ser) Hetero no r.(?) - g.23635536A>G - PALB2_000014 - - Claudia Martin-Hospital de Córdoba
-?/- 4 c.1010T>C p.(Leu337Ser) Hetero no r.(?) RECLASSIFIED JULY 2022 g.23635536A>G - PALB2_000014 - - Silvina Sisterna-Hospital de Comunidad
-/- 4 c.1010T>C p.(Leu337Ser) Hetero no r.(?) RECLASSIFIED JULY 2022 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 Fleming
+/+ 4 c.1192del p.(Val398Cysfs*26) Hetero N/A r.(?) - g.23635354del - PALB2_000038 - - Claudia Martin-Hospital de Córdoba
+/+ 4 c.1192del p.(Val398Cysfs*26) Hetero N/A r.(1192del) - g.23635354del - PALB2_000038 - - Silvina Sisterna-Hospital de Comunidad
?/? 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.(?) RECLASSIFIED NOVEMBER 2020 g.23635273C>T - PALB2_000010 - - Rita Valdez-Hospital Alemán
./-? 4 c.1572A>G p.(=) Hetero no r.(=) - g.23634974T>C - PALB2_000020 - - Silvina Sisterna-Hospital de Comunidad
+/+ 4 c.1592del p.(Leu531Cysfs*30) Hetero N/A r.(?) - g.23634954del - PALB2_000023 - - Alejandra Mampel-COIR
?/? 4 c.1594C>A p.(Pro532Thr) Hetero no r.(1594c>a) - g.23634952G>T - PALB2_000045 - - Silvina Sisterna-Hospital de Comunidad
+/+ 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 Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Luisina Bruno-Instituto 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 de Comunidad
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Norma Rossi-Hospital 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 Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Carolina Ponce-Instituto Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Luisina Bruno-Instituto Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Claudia Martin-Hospital de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Claudia Martin-Hospital 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 de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Claudia Martin-Hospital de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero CHEK2 r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Claudia Martin-Hospital de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Claudia Martin-Hospital de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Jesica Ramirez-Hospital Central de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Jesica Ramirez-Hospital Central de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Jesica Ramirez-Hospital Central de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Norma Rossi - Sanatorio Allende
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Silvina Sisterna-Hospital de Comunidad
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Norma Rossi - Sanatorio Allende
+/+ 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 rs118203997 - Claudia Martin-Hospital 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.(?) RECLASSIFIED JUNE 2019 g.23634870T>C - PALB2_000004 - - Gonzalo Tabares-CEMA
-/- 4 c.1676A>G p.(Gln559Arg) Hetero BRCA2 r.(?) - g.23634870T>C - PALB2_000004 - - Claudia Martin-Hospital de Córdoba
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) - g.23634870T>C - PALB2_000004 - - Silvina Sisterna-Hospital de Comunidad
./- 4 c.1676A>G p.(Gln559Arg) Not specified no r.(?) - g.23634870T>C - PALB2_000004 - - Silvina Sisterna-Hospital de Comunidad
-/- 4 c.1676A>G p.(Gln559Arg) Homo no r.(?) - g.23634870T>C - PALB2_000004 - - Silvina Sisterna-Hospital de Comunidad
./- 4 c.1676A>G p.(Gln559Arg) Not specified ATM r.(?) - g.23634870T>C - PALB2_000004 - - Silvina Sisterna-Hospital de Comunidad
./- 4 c.1676A>G p.(Gln559Arg) Not specified no r.(?) - g.23634870T>C - PALB2_000004 - - Silvina Sisterna-Hospital de Comunidad
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) - g.23634870T>C - PALB2_000004 - - Silvina Sisterna-Hospital de Comunidad
-/- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) - g.23634870T>C - PALB2_000004 - - Silvina Sisterna-Hospital de Comunidad
./- 4 c.1676A>G p.(Gln559Arg) Hetero no r.(?) - g.23634870T>C - PALB2_000004 - - Silvina Sisterna-Hospital de Comunidad
-/- 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 de Comunidad
-/- 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.1838del p.(Gln613Argfs*15) Hetero no r.(?) RECLASSIFIED NOVEMBER 2020 g.23630316del - PALB2_000009 - - Gonzalo Tabares-CEMA
+/+ 5 c.1959T>A p.(Cys653*) Hetero N/A r.(?) - g.23630195A>T - PALB2_000018 - - Claudia Martin-Hospital de Córdoba
+/+ 5 c.1959T>A p.(Cys653*) Hetero N/A r.(?) - g.23630195A>T - PALB2_000018 - - Claudia Martin-Hospital de Córdoba
+/+ 5 c.1959T>A p.(Cys653*) Hetero N/A r.(?) - g.23630195A>T - PALB2_000018 - - Claudia Martin-Hospital 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 de Córdoba
-?/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?) - g.23630140C>G - PALB2_000006 - - Silvina Sisterna-Hospital de Comunidad
./-? 5 c.2014G>C p.(Glu672Gln) Not specified no r.(?) - g.23630140C>G - PALB2_000006 - - Silvina Sisterna-Hospital de Comunidad
-?/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?) - g.23630140C>G - PALB2_000006 - - Silvina Sisterna-Hospital de Comunidad
./-? 5 c.2014G>C p.(Glu672Gln) Not specified ATM r.(?) - g.23630140C>G - PALB2_000006 - - Silvina Sisterna-Hospital de Comunidad
./-? 5 c.2014G>C p.(Glu672Gln) Not specified no r.(?) - g.23630140C>G - PALB2_000006 - - Silvina Sisterna-Hospital de Comunidad
-/-? 5 c.2014G>C p.(Glu672Gln) Hetero no r.(?) - g.23630140C>G - PALB2_000006 - - Silvina Sisterna-Hospital de Comunidad
-/-? 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.(?) RECLASSIFIED NOVEMBER 2020 g.23630140C>G - PALB2_000006 - - Silvina Sisterna-Hospital de Comunidad
?/? 5 c.2078A>T p.(His693Leu) Hetero no r.(?) - g.23630076T>A - PALB2_000016 - - Claudia Martin-Hospital de Córdoba
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?) - g.23629936G>A - PALB2_000034 - - Luisina Bruno-Instituto Fleming
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?) - g.23629936G>A - PALB2_000034 - - Luisina Bruno-Instituto Fleming
+/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?) - g.23629936G>A - PALB2_000034 - - Luisina Bruno-Instituto Fleming
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