| | | Single nucleotide variant (missense variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (intron variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (missense variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (intron variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (missense variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (missense variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (intron variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (intron variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (intron variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (intron variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (missense variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (missense variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (intron variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (intron variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (missense variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (missense variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (intron variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite (intron variant) | SLC51A-related disorder | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC51A-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 6 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Isolated anorectal malformation | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Chromosome 3q29 microdeletion syndrome | |
| | | Deletion | Chromosome 3q29 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Chromosome 3q29 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 3q28q29 deletion syndrome | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 6 | |
| | | Copy number gain | See cases | |
| | | Duplication | not provided | |
| | | Copy number gain | Delayed speech and language development +1 more | |
| | | Copy number gain | Motor delay +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |