| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130062794, TXNL4A (M1L) | Single nucleotide variant (5 prime UTR variant +4 more) | TXNL4A-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Deletion (intron variant) | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene