| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|---|---|---|---|
| SLC6A8 N77S | insufficiently evaluated none | unknown | ||
| SLC6A8 G87R | insufficiently evaluated pathogenic | unknown |
(17 web hits) | |
| SLC6A8 G132V | insufficiently evaluated pathogenic | unknown | ||
| SLC6A8 N192S | insufficiently evaluated none | unknown | ||
| SLC6A8 L275V | insufficiently evaluated not reviewed | unknown | CGI sample GS01173-DNA_H06 from PGP sample 91708424 | |
| CGI sample GS00253-DNA_A02_200_37 | ||||
| SLC6A8 C337W | insufficiently evaluated pathogenic | unknown |
(17 web hits) | |
| SLC6A8 G381R | insufficiently evaluated pathogenic | unknown |
(25 web hits) | |
| SLC6A8 C454R | insufficiently evaluated not reviewed | unknown | CGI sample GS01175-DNA_A04 from PGP sample 13272228 | |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 | ||||
| SLC6A8 C491W | insufficiently evaluated pathogenic | unknown | ||
| SLC6A8 R514X | insufficiently evaluated pathogenic | unknown |
(13 web hits) | |
| Total results: 10 | ||||