Gastrointestinaler Stromatumor (GIST)

KIT, MAX, MEN1, NF1, PDGFRA, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMARCB1, TMEM127

Generalisierte Epilepsie mit Fieberkrämpfen plus (GEFS+) / Fieber-assoziierte Epilepsie

GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A, STX1B

PRNP

SRY

CAV3, DES, DNAJB6, HNRNPDL, LMNA, MYOT, TNPO3

ANO5, CAPN3, DAG1, DYSF, FKRP, FKTN, PLEC, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32

ANO5, CAPN3, CAV3, DYSF, FKRP, FKTN, LMNA, MYOT (TTID), SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32

DAG1, DES, DNAJB6, HNRNPDL, PLEC, POMT1, POMT2, TNPO3

SLC2A1

AMT, GCSH, GLDC, SLC9A6

PTCH1

GLI3