| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Al Kaissi syndrome | |
| | | Deletion | Al Kaissi syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Al Kaissi syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Al Kaissi syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene