| | | Copy number gain | See cases | |
| | LOC126862711, LOC126862712 +1643 more | Copy number gain | See cases | |
| | LOC130062667, LOC130062668 +1643 more | Copy number gain | See cases | |
| | LOC130062278, LOC130062279 +1643 more | Copy number gain | See cases | |
| | LOC126862732, LOC126862733 +1643 more | Copy number gain | See cases | |
| | ANKRD12, ANKRD29 +1642 more | Copy number gain | See cases | |
| | SERPINB12, SERPINB13 +1643 more | Copy number gain | See cases | |
| | LOC125368553, LOC125368554 +1643 more | Copy number gain | See cases | |
| | LOC130062355, LOC130062356 +1642 more | Copy number gain | See cases | |
| | LOC126862717, LOC126862718 +1266 more | Copy number gain | See cases | |
| | LOC132090510, LOC132090511 +1089 more | Copy number gain | See cases | |
| | LOC132211113, LOC132211114 +1266 more | Copy number gain | See cases | |
| | LOC130062787, LOC130062788 +1005 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062694, LOC130062695 +887 more | Copy number gain | See cases | |
| | LINC01929, LINC02565 +879 more | Copy number gain | See cases | |
| | LOC126862796, LOC126862797 +733 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062613, LOC130062614 +664 more | Copy number loss | See cases | |
| | LOC130062683, LOC130062684 +664 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129391005, LOC129391006 +644 more | Copy number loss | See cases | |
| | LOC130062551, LOC130062552 +636 more | Copy number loss | See cases | |
| | LOC126862818, LOC126862819 +636 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062592, LOC130062593 +602 more | Copy number loss | See cases | |
| | LOC130062765, LOC130062766 +572 more | Copy number loss | See cases | |
| | LOC108281158, LOC110120868 +573 more | Copy number loss | See cases | |
| | LOC130062566, LOC130062567 +87 more | Duplication | not provided | |
| | | Deletion (3 prime UTR variant) | Progressive familial intrahepatic cholestasis | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | ATP8B1, ATP8B1-AS1 (R1247C +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ATP8B1, ATP8B1-AS1 (Y1195H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ATP8B1, ATP8B1-AS1 (A1243T +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ATP8B1-AS1, ATP8B1 (T1242S +1 more) | Single nucleotide variant (missense variant) | ATP8B1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | ATP8B1-AS1, ATP8B1 (G1191fs +1 more) | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |