| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neoplasm | |
| | | Deletion | not provided | |
| | | Deletion | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Deletion | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Deletion | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Deletion | X-linked agammaglobulinemia with growth hormone deficiency +1 more | |
| | MIR1468, MIR1587 +2598 more | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked agammaglobulinemia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | X-linked agammaglobulinemia | |
| | | Single nucleotide variant (nonsense) | X-linked agammaglobulinemia | |
| | | Deletion (splice donor variant +1 more) | X-linked agammaglobulinemia | |
| | | Single nucleotide variant (nonsense) | X-linked agammaglobulinemia | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | BTK-related disorder | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (missense variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Deletion (stop lost) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Deletion (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (missense variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (missense variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (missense variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Microsatellite (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (missense variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (missense variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Insertion (frameshift variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (nonsense) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Deletion | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (missense variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Deletion (intron variant) | X-linked agammaglobulinemia with growth hormone deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | X-linked agammaglobulinemia with growth hormone deficiency | |