?/? |
2 |
c.97A>G |
p.(Ile33Val) |
Hetero |
no |
r.(?) |
- |
g.89982796T>C |
- |
NBN_000020 |
- |
- |
Jose Llugdar-IMOC |
-/- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Lina Nuñez-Private Practice |
-/- |
2 |
c.102G>A |
p.(=) |
Hetero |
BRCA2 |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
2 |
c.102G>A |
p.(=) |
Not specified |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
2 |
c.102G>A |
p.(=) |
Not specified |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
2 |
c.102G>A |
p.(=) |
Not specified |
ATM |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
2 |
c.102G>A |
p.(=) |
Homo |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Laura Vargas Roig-IMBECU |
-/- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
2 |
c.102G>A |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89982791C>T |
- |
NBN_000006 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
?/? |
2 |
c.119C>T |
p.(Ser40Leu) |
Hetero |
no |
r.(?) |
- |
g.89982774G>A |
- |
NBN_000003 |
- |
- |
Lina Nuñez-Hospital Alemán |
?/? |
4 |
c.395T>C |
p.(Ile132Thr) |
Hetero |
no |
r.(?) |
- |
g.89980819A>G |
- |
NBN_000013 |
- |
- |
Lina Nuñez-Hospital Alemán |
?/? |
4 |
c.433G>A |
(p.Glu145Lys) |
Hetero |
no |
r.? |
- |
g.89980781C>T |
- |
NBN_000027 |
- |
- |
Guillermo Alberto-Instituto Fleming |
?/? |
5 |
c.503G>A |
p.(Gly168Glu) |
Hetero |
no |
r.(503g>a) |
- |
g.89978301C>T |
- |
NBN_000022 |
- |
- |
Jesica Ramirez-Hospital Central de Mendoza |
-/- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Lina Nuñez-Private Practice |
-/- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
BRCA2 |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
5 |
c.553G>C |
p.(Glu185Gln) |
Not specified |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
5 |
c.553G>C |
p.(Glu185Gln) |
Not specified |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
5 |
c.553G>C |
p.(Glu185Gln) |
Not specified |
ATM |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
5 |
c.553G>C |
p.(Glu185Gln) |
Homo |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Laura Vargas Roig-IMBECU |
-/- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
5 |
c.553G>C |
p.(Glu185Gln) |
Hetero |
no |
r.(?) |
- |
g.89978251C>G |
- |
NBN_000007 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
+/+ |
6 |
c.657_661del |
p.(Lys219Asnfs*16) |
Hetero |
MUTYH |
r.(657_661del) |
- |
g.89971217_89971221del |
- |
NBN_000021 |
- |
- |
Maria Constanza Vallone-Hospital Austral |
?/? |
6 |
c.671G>A |
p.(Gly224Glu) |
Hetero |
no |
r.? |
- |
g.89971204C>T |
- |
NBN_000026 |
rs199845467 |
- |
Maria Laura Gonzalez-Hospital Italiano |
?/? |
7 |
c.796C>T |
p.(Pro266Ser) |
Hetero |
no |
r.(796c>u) |
- |
g.89970464G>A |
- |
NBN_000023 |
- |
- |
Laura Vargas Roig-IMBECU |
?/? |
7 |
c.802A>G |
p.(Thr268Ala) |
Hetero |
BRCA1 |
r.(?) |
- |
g.89970458T>C |
- |
NBN_000019 |
- |
- |
Maria Constanza Vallone-Hospital Austral |
?/? |
7 |
c.832T>G |
p.(Ser278Ala) |
Hetero |
no |
r.(832u>g) |
- |
g.89970428A>C |
- |
NBN_000024 |
rs1225178489 |
- |
Cecilia Montes-IMGO |
?/? |
8 |
c.949A>G |
p.(Met317Val) |
Hetero |
no |
r.(?) |
- |
g.89964455T>C |
- |
NBN_000018 |
- |
- |
Norma Rossi-Hospital de Córdoba |
-?/-? |
9 |
c.1065C>T |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89958784G>A |
- |
NBN_000001 |
- |
- |
Alejandra Mampel-Hospital Universitario de Mendoza |
-/- |
9i |
c.1124+18C>T |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89958707G>A |
- |
NBN_000008 |
- |
- |
Lina Nuñez-Private Practice |
-/- |
9i |
c.1124+18C>T |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89958707G>A |
- |
NBN_000008 |
- |
- |
Laura Vargas Roig-IMBECU |
-/- |
9i |
c.1124+18C>T |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89958707G>A |
- |
NBN_000008 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Lina Nuñez-Private Practice |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
BRCA2 |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
10 |
c.1197T>C |
p.(=) |
Not specified |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
10 |
c.1197T>C |
p.(=) |
Not specified |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
10 |
c.1197T>C |
p.(=) |
Not specified |
ATM |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
10 |
c.1197T>C |
p.(=) |
Homo |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
10 |
c.1197T>C |
p.(=) |
Homo |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Laura Vargas Roig-IMBECU |
-/- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
10 |
c.1197T>C |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89955483A>G |
- |
NBN_000009 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
?/? |
10 |
c.1354A>C |
p.(Thr452Pro) |
Hetero |
no |
r.(?) |
- |
g.89955326T>G |
- |
NBN_000004 |
- |
- |
Laura Vargas Roig-IMBECU |
?/? |
10 |
c.1373A>G |
p.(Tyr458Cys) |
Hetero |
BRCA2 |
r.? |
- |
g.89955307T>C |
- |
NBN_000028 |
- |
- |
Erika Stegmayer-Eccellenza |
+/+ |
11 |
c.1419_1431dup |
p.(Cys478Argfs*31) |
Hetero |
N/A |
r.(?) |
- |
g.89953658_89953670dup |
- |
NBN_000005 |
- |
- |
Lina Nuñez-Hospital Alemán |
?/-? |
11 |
c.1720T>A |
p.(Leu574Ile) |
Hetero |
no |
r.(?) |
- |
g.89953369A>T |
- |
NBN_000014 |
- |
- |
Cecilia Montes-IMGO |
+/+ |
12 |
c.1882_1885delGAAG |
p.(Glu628Thrfs*28) |
Hetero |
N/A |
r.(?) |
- |
g.89947853_89947856delCTTC |
- |
NBN_000002 |
- |
- |
Rita Valdez-Hospital Alemán |
-/-? |
12 |
c.1893A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89947845T>C |
- |
NBN_000016 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
?/+? |
12i |
c.1914+2_1914+3del |
p.? |
Hetero |
no |
r.spl? |
RECLASSIFIED NOVEMBER 2020 |
g.89947821_89947822del |
- |
NBN_000012 |
- |
- |
Maria Laura Gonzalez-Hospital Italiano |
-/- |
12i |
c.1915-7A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Lina Nuñez-Private Practice |
-/- |
12i |
c.1915-7A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
12i |
c.1915-7A>G |
p.(=) |
Not specified |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
12i |
c.1915-7A>G |
p.(=) |
Not specified |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
12i |
c.1915-7A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
12i |
c.1915-7A>G |
p.(=) |
Not specified |
ATM |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
12i |
c.1915-7A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
12i |
c.1915-7A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Laura Vargas Roig-IMBECU |
-/- |
12i |
c.1915-7A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
12i |
c.1915-7A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
12i |
c.1915-7A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
12i |
c.1915-7A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
12i |
c.1915-7A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946302T>C |
- |
NBN_000010 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
13 |
c.2016A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946194T>C |
- |
NBN_000011 |
- |
- |
Lina Nuñez-Private Practice |
-/- |
13 |
c.2016A>G |
p.(=) |
Hetero |
BRCA2 |
r.(=) |
- |
g.89946194T>C |
- |
NBN_000011 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
13 |
c.2016A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946194T>C |
- |
NBN_000011 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
13 |
c.2016A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946194T>C |
- |
NBN_000011 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
-/- |
13 |
c.2016A>G |
p.(=) |
Hetero |
no |
r.(=) |
- |
g.89946194T>C |
- |
NBN_000011 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |
./- |
13 |
c.2016A>G |
p.(=) |
Not specified |
no |
r.(=) |
- |
g.89946194T>C |
- |
NBN_000011 |
- |
- |
Silvina Sisterna-Hospital de Comunidad |