| | | 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 | |
| | LINC01622, LINC02521 +558 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995709, LOC129995710 +642 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995671, LOC129995672 +509 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995581, LOC129995582 +436 more | Copy number gain | See cases | |
| | LOC129995677, LOC129995678 +331 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +159 more | Copy number loss | See cases | |