| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (splice donor variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (splice donor variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | BLTP1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Duplication (intron variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (intron variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome +1 more | |
| | | Duplication (splice donor variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (intron variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome | |
| | | Duplication (nonsense) | Alkuraya-Kucinskas syndrome | |
| | | Duplication (frameshift variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | BLTP1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Deletion (frameshift variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | BLTP1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Alkuraya-Kucinskas syndrome | |
| | | Deletion (frameshift variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome +6 more | GPathogenic/Likely pathogenic |