Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Hydrolethalus syndrome 1 +1 more | |
| | | Deletion (frameshift variant +1 more) | Hydrolethalus syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Hydrolethalus syndrome 1 +2 more | |
| | | Deletion (frameshift variant +1 more) | Hydrolethalus syndrome 1 | |
| | | Deletion (inframe_deletion +1 more) | Hydrolethalus syndrome 1 | |
| | | Deletion (inframe_deletion +1 more) | Hydrolethalus syndrome 1 | |
| | | Deletion (inframe_deletion +1 more) | Hydrolethalus syndrome 1 | |
| | | Deletion (inframe_deletion +1 more) | Hydrolethalus syndrome 1 | |
| | | Duplication (inframe_insertion +1 more) | Hydrolethalus syndrome 1 | |
| | | Deletion (inframe_deletion +1 more) | Hydrolethalus syndrome 1 | |
| | | Microsatellite (inframe_deletion +1 more) | Hydrolethalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hydrolethalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | HYLS1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
Click to view in NCBI Gene