Bainbridge-Ropers Syndrom

ASXL3

Bartter Syndrom Typ 4A / infantiles Bartter Syndrom mit sensorineuraler Schwerhörigkeit

BSND

PTCH1, PTEN, SUFU

CDKN1C, methylierungssensitive MLPA11p15

CDKN1C

CHRNA2, KCNQ2, KCNQ3, PRRT2, SCN2A, SCN8A

EYA1, SIX1, SIX5

BRCA1, BRCA2

CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN5A, TRPM4

ANK2, CALM1, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, PKP2, RYR2, SCN4B, SNTA1, TRDN

ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, TP53

BRIP1, MLH1, MSH2, MSH6, PMS2, STK11