ABCB11 V43I | insufficiently evaluated not reviewed, f=0.002 | unknown |
| hu232307 build 36 substitution variants |
ABCB11 I206V | insufficiently evaluated not reviewed, f=0.002 | unknown |
| var-GS21767-1100-36-ASM |
ABCB11 E297G | insufficiently evaluated pathogenic, f=0.000 | unknown |
(127 web hits) | |
ABCB11 R432T | insufficiently evaluated pathogenic | unknown |
(12 web hits) | |
ABCB11 V444A | insufficiently evaluated not reviewed, f=0.603 | unknown |
(82 web hits) | CGI sample GS00253-DNA_E01_200_37 (hom) |
ABCB11 Q546K | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS19701-1100-36-ASM |
ABCB11 R575X | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
ABCB11 M677V | insufficiently evaluated not reviewed, f=0.065 | unknown |
(1 web hit) | var-GS19025-1100-36-ASM |
ABCB11 R698H | uncertain benign, f=0.005 | unknown | Rare, classified as nonpathogenic in most reports (although Polyphen 2 predicts damaging effect). Other recessive variants in this gene cause intrahepatic cholestasis in a recessive manner.
| CGI sample GS00253-DNA_F01_200_37 |
ABCB11 R1057X | insufficiently evaluated pathogenic | unknown |
(20 web hits) | |
ABCB11 E1186K | insufficiently evaluated not reviewed, f=0.009 | unknown |
| var-GS19026-1100-36-ASM |