| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | DAAM2-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | DAAM2-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | DAAM2-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | DAAM2-related condition | |
| | | Single nucleotide variant (intron variant) | DAAM2-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | DAAM2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Nephrotic syndrome, type 24 | |
| | | Single nucleotide variant (missense variant) | Nephrotic syndrome, type 24 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |