| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Developmental and epileptic encephalopathy, 42 +1 more | |
| | | Deletion | Developmental and epileptic encephalopathy, 42 +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 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (nonsense) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | 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) | Cardiomyopathy, dilated, 2H | |
| | | Single nucleotide variant (nonsense +1 more) | Cardiomyopathy, dilated, 2H | |
| | | Duplication | not provided | |
| | | Duplication | Deficiency of alpha-mannosidase +4 more | |
| | | Deletion | Developmental and epileptic encephalopathy, 42 +3 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC112543445, LOC112543446 +355 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129391074, LOC130063625 +351 more | Copy number gain | See cases | |
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | LOC126862863, LOC126862864 +536 more | Copy number gain | See cases | |