Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr7:87069621-87069623
- GRCh38:
- Chr7:87440305-87440307
| ABCB4 | T485del | Intrahepatic cholestasis | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:169788952
- GRCh38:
- Chr2:168932442
| ABCB11 | R1050C | not provided, Abnormal liver function tests during pregnancy, Intrahepatic cholestasis,
Pruritus | Pathogenic
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |