| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|---|---|---|---|
| MLC1 G59E | insufficiently evaluated pathogenic | unknown |
(8 web hits) | |
| MLC1 N74T | insufficiently evaluated none | unknown | ||
| MLC1 P92S | insufficiently evaluated pathogenic | unknown |
(7 web hits) | |
| MLC1 S93L | insufficiently evaluated pathogenic | unknown |
(38 web hits) | |
| MLC1 N141K | insufficiently evaluated pathogenic | unknown | ||
| MLC1 N141S | insufficiently evaluated pathogenic | unknown | ||
| MLC1 C171F | insufficiently evaluated not reviewed, f=0.106 | unknown |
(12 web hits) | CGI sample GS00253-DNA_E01_200_37 (hom) |
| hu3215A7 build 36 substitution variants | ||||
| var-GS18942-1100-36-ASM | ||||
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 | ||||
| var-GS19703-1100-36-ASM | ||||
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 | ||||
| var-GS19649-1100-36-ASM | ||||
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) | ||||
| CGI sample GS00253-DNA_D01_200_37 | ||||
| hu728FFF build 36 substitution variants | ||||
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 | ||||
| var-GS18508-1100-36-ASM | ||||
| var-GS19669-1100-36-ASM | ||||
| var-GS06985-1100-36-ASM | ||||
| MLC1 Y198X | insufficiently evaluated pathogenic | unknown | ||
| MLC1 V200F | insufficiently evaluated none, f=0.008 | unknown | var-GS18555-1100-36-ASM | |
| MLC1 V201I | insufficiently evaluated not reviewed, f=0.001 | unknown | var-GS19704-1100-36-ASM | |
| MLC1 N218K | uncertain benign, f=0.003 | unknown | Probably benign. (6 web hits) | CGI sample GS00253-DNA_B02_200_37 |
| MLC1 S280L | insufficiently evaluated pathogenic | unknown |
(11 web hits) | |
| MLC1 V327M | insufficiently evaluated none | unknown | ||
| MLC1 N344S | insufficiently evaluated none, f=0.103 | unknown |
(2 web hits) | hu3215A7 build 36 substitution variants |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom) | ||||
| Page: 1 2 Total results: 14 | ||||