Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
MYRF Q9Y2G1 myelin regulatory factor 1.00 0.584 0.731
TMEM258 P61165 transmembrane protein 258 1.9E-03 0.644 0.654
NEK1 Q96PY6 NIMA related kinase 1 Kinase 1.9E-25 0.575 0.769
CFAP53 Q96M91 cilia and flagella associated protein 53 9.7E-19 0.780 0.115