| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS4, ALDH9A1 +371 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129931815, LOC129931816 +151 more | Copy number loss | See cases | |
| | LOC129388624, LOC129388625 +407 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | See cases +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Cerebro facio thoracic dysplasia +20 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Microsatellite (nonsense +1 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | |
| | | Duplication (5 prime UTR variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |