| | | Single nucleotide variant (nonsense +1 more) | Al Kaissi syndrome | |
| | | Deletion (frameshift variant +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | 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 (synonymous variant +1 more) | Al Kaissi syndrome | |
| | | Microsatellite (inframe_deletion +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Al Kaissi syndrome | |
| | | Deletion (frameshift variant +1 more) | Al Kaissi syndrome | |
| | | Duplication (frameshift variant +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (intron variant) | Al Kaissi syndrome | |
| | | Single nucleotide variant (intron variant) | Al Kaissi syndrome | |
| | | Deletion (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | 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 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | 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 |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (splice donor variant) | Al Kaissi syndrome +1 more | |
| | | Deletion (5 prime UTR variant +1 more) | Al Kaissi syndrome | |
| | | Deletion (splice acceptor variant +2 more) | Al Kaissi syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Al Kaissi syndrome +2 more | GConflicting classifications of pathogenicity |