Variant | Impact | Inheritance pattern | Summary | Genomes |
---|---|---|---|---|
DDB2 R20K | insufficiently evaluated not reviewed | unknown | CGI sample GS01175-DNA_A04 from PGP sample 13272228 | |
DDB2 K244E | insufficiently evaluated pathogenic | unknown |
(31 web hits) | |
DDB2 R273H | insufficiently evaluated pathogenic, f=0.000 | unknown |
(88 web hits) | |
DDB2 D307Y | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
DDB2 R313X | insufficiently evaluated pathogenic | unknown | ||
Total results: 5 |