| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (missense variant) | BMP6-related disorder | |
| | | Single nucleotide variant (intron variant) | BMP6-related disorder | |
| | | Single nucleotide variant (intron variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Single nucleotide variant (missense variant) | BMP6-related disorder | |
| | | Microsatellite (inframe insertion) | BMP6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | 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 | |
| | | Single nucleotide variant (synonymous variant) | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant | Neonatal hemochromatosis | |
| | | Microsatellite | Neonatal hemochromatosis | |
| | | Duplication | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +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 | |
| | | 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 | |
| | | 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 | See cases | |
| | | Single nucleotide variant (missense variant) | Iron overload, susceptibility to | |
| | | Single nucleotide variant (nonsense) | Iron overload, susceptibility to | |
| | | Single nucleotide variant (missense variant) | Iron overload, susceptibility to | |
| | | Single nucleotide variant (missense variant) | BMP6-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Premature ovarian failure | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | BMP6-related disorder +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995745, LOC129995746 +557 more | Copy number gain | See cases | |
| | ANKRD66, C6orf201 +2580 more | Copy number gain | See cases | |
| | LOC129995555, LOC129995556 +641 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090751, LOC132090752 +508 more | Copy number gain | See cases | |
| | LOC129995829, LOC129995830 +777 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132089486, LOC132089487 +435 more | Copy number gain | See cases | |
| | LOC129995677, LOC129995678 +331 more | Copy number loss | See cases | |
| | SERPINB9-AS1, SLC22A23 +571 more | Copy number gain | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +159 more | Copy number loss | See cases | |