| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|---|---|---|---|
| ABCB4 T175A | insufficiently evaluated not reviewed, f=0.008 | unknown | PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) | |
| ABCB4 T175V | insufficiently evaluated pathogenic | unknown |
(3 web hits) | |
| ABCB4 S320F | insufficiently evaluated pathogenic, f=0.000 | unknown |
(23 web hits) | |
| ABCB4 Y403H | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| ABCB4 C433W | insufficiently evaluated not reviewed, f=0.046 | unknown | ||
| ABCB4 E528D | insufficiently evaluated unknown, f=0.011 | unknown |
(10 web hits) | var-GS19704-1100-36-ASM |
| hu728FFF build 36 substitution variants | ||||
| ABCB4 A546D | insufficiently evaluated pathogenic | unknown |
(84 web hits) | |
| ABCB4 R590Q | insufficiently evaluated not reviewed | unknown | CGI sample GS01173-DNA_F06 from PGP sample 64191565 | |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 | ||||
| ABCB4 T651N | insufficiently evaluated not reviewed, f=0.008 | unknown | var-GS18537-1100-36-ASM | |
| ABCB4 T651S | insufficiently evaluated not reviewed | unknown | ||
| ABCB4 R652G | insufficiently evaluated not reviewed, f=0.166 | unknown |
(37 web hits) | CGI sample GS00253-DNA_E01_200_37 |
| hu34D5B9 exome | ||||
| var-GS19700-1100-36-ASM | ||||
| var-GS18501-1100-36-ASM | ||||
| var-GS18504-1100-36-ASM | ||||
| var-GS07357-1100-36-ASM | ||||
| var-GS19703-1100-36-ASM (hom) | ||||
| var-GS19704-1100-36-ASM (hom) | ||||
| var-GS19834-1100-36-ASM | ||||
| var-GS19239-1100-36-ASM | ||||
| var-GS19017-1100-36-ASM | ||||
| var-GS18502-1100-36-ASM | ||||
| var-GS19129-1100-36-ASM | ||||
| hu728FFF build 36 substitution variants | ||||
| var-GS19670-1100-36-ASM | ||||
| var-GS18508-1100-36-ASM | ||||
| var-GS06985-1100-36-ASM | ||||
| var-GS18517-1100-36-ASM | ||||
| ABCB4 S674L | insufficiently evaluated none | unknown | ||
| ABCB4 R788Q | insufficiently evaluated unknown, f=0.026 | unknown |
(2 web hits) | var-GS19020-1100-36-ASM |
| var-GS19700-1100-36-ASM | ||||
| hu728FFF build 36 substitution variants | ||||
| var-GS18505-1100-36-ASM | ||||
| ABCB4 R788P | insufficiently evaluated not reviewed | unknown | ||
| ABCB4 L861V | insufficiently evaluated not reviewed | unknown | ||
| ABCB4 R957X | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| ABCB4 L1042F | insufficiently evaluated none | unknown | ||
| ABCB4 L1089F | insufficiently evaluated none | unknown | ||
| ABCB4 P1161S | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| Page: 1 2 Total results: 19 | ||||