| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 10 | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 10 | |
| | | Single nucleotide variant (splice acceptor variant) | Cholestasis, progressive familial intrahepatic, 10 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 10 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 10 | |
| | | Single nucleotide variant (intron variant) | Cholestasis, progressive familial intrahepatic, 10 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 10 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 10 | |
| | | Single nucleotide variant (synonymous variant) | Cholestasis, progressive familial intrahepatic, 10 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital microvillous atrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital microvillous atrophy +2 more | |
| | | Single nucleotide variant (missense variant) | MYO5B-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital microvillous atrophy +2 more | |
| | | Single nucleotide variant (missense variant) | MYO5B-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital microvillous atrophy +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |