| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | 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) | C4BPB-related disorder | |
| | | Duplication (intron variant) | C4BPB-related disorder | |
| | | Single nucleotide variant (intron 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 (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | 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 gain | See cases | |
| | | Duplication | Inflammatory bowel disease +1 more | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | not provided | |
| | | Microsatellite | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Copy number gain | not provided | |
| | C1orf35, C1orf74 +320 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | LOC129932391, PIK3C2B +278 more | Deletion | Autism | |
| | | Copy number loss | Global developmental delay +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129388734, LOC129388735 +723 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |