| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | TXNL4A-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | TXNL4A-related disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | LOC130062794, TXNL4A (M1L) | Single nucleotide variant (5 prime UTR variant +4 more) | TXNL4A-related disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Deletion of long arm of chromosome 18 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Deletion of long arm of chromosome 18 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | LOC130062794, TXNL4A (S2L) | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | | 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 loss | See cases | |
| | | Copy number loss | Deletion of long arm of chromosome 18 | |
| | | Copy number gain | Trisomy 18 | |
| | LOC126862831, LOC130062709 +430 more | Deletion | Deletion of long arm of chromosome 18 | |
| | | Single nucleotide variant (intron variant) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Deletion (5 prime UTR variant +3 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | LINC01893, LOC126862798 +279 more | Deletion | Pulmonary valve stenosis +10 more | |
| | | Duplication (frameshift variant +1 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LINC-ROR, LINC00683 +80 more | Copy number loss | not provided | |
| | | Copy number gain | Global developmental delay | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | FBXO15, LINC01879 +27 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 loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Neurodevelopmental disorder | |
| | | Deletion | Deletion of long arm of chromosome 18 | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | |
| | | 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 loss | not provided | |
| | | Copy number loss | 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 | |
| | | Copy number gain | not provided | |
| | | Deletion | Intestinal malrotation | |
| | | Deletion (5 prime UTR variant +3 more) | not provided +1 more | |