| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | VEXAS syndrome | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (intron variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (intron variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (intron variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Deletion (intron variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (intron variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (intron variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Deletion (intron variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | LOC126863253, UBA1 (L112F) | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | VEXAS syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | VEXAS syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (intron variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (intron variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset X-linked spinal muscular atrophy +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Infantile-onset X-linked spinal muscular atrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Infantile-onset X-linked spinal muscular atrophy +1 more | |