| | LOC105372173, LOC105372179 +1646 more | Copy number gain | See cases | |
| | LOC105372069, LOC105372071 +1643 more | Copy number gain | See cases | |
| | LOC121852961, LOC121852962 +1643 more | Copy number gain | See cases | |
| | LOC130062369, LOC130062370 +1643 more | Copy number gain | See cases | |
| | LOC130062321, LOC130062322 +1643 more | Copy number gain | See cases | |
| | LOC130062687, LOC130062688 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062768, LOC130062769 +1642 more | Copy number gain | See cases | |
| | LOC130062608, LOC130062609 +1266 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01902, LINC01903 +1005 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062712, LOC130062713 +879 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062692, LOC130062693 +664 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC114803473, LOC116276491 +636 more | Copy number loss | See cases | |
| | LOC130062739, LOC130062740 +636 more | Copy number gain | See cases | |
| | LOC130062684, LOC130062685 +602 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126862772, LOC126862773 +450 more | Copy number loss | See cases | |
| | LOC126862775, LOC126862776 +436 more | Copy number loss | See cases | |
| | | Deletion | Deletion of long arm of chromosome 18 | |
| | LOC126862797, LOC126862798 +430 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062747, LOC130062748 +426 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062705, LOC130062706 +308 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126862801, LOC126862802 +299 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062762, LOC130062763 +292 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062800, LOC130062801 +288 more | Copy number loss | See cases | |
| | LOC132211114, LOC284240 +287 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062790, LOC130062791 +279 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC01922, LINC01927 +279 more | Deletion | Nystagmus +10 more | |
| | | Copy number loss | See cases | |
| | LOC130062708, LOC130062709 +248 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062793, LOC130062794 +27 more | Copy number loss | See cases | |
| | | Deletion | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | TXNL4A-related condition +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Duplication (frameshift variant +1 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice acceptor variant +2 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | TXNL4A-related condition | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | TXNL4A-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Deletion (5 prime UTR variant +4 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Deletion (5 prime UTR variant +3 more) | not provided | |
| | | Deletion (5 prime UTR variant +3 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | TXNL4A-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | |
| | LOC130062794, TXNL4A (S2L) | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | LOC130062794, TXNL4A (M1L) | Single nucleotide variant (intron variant +4 more) | TXNL4A-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Deletion | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| | | Deletion (intron variant +1 more) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome +1 more | GConflicting classifications of pathogenicity |