| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Deeah syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Deeah syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
Click to view in NCBI Gene