| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication | not provided | |
| | MIR1468, MIR1587 +2598 more | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hearing loss, X-linked 1 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Duplication (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Duplication (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Microsatellite (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Phosphoribosylpyrophosphate synthetase superactivity | |
| | | Single nucleotide variant (missense variant +1 more) | Arts syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Duplication | Charcot-Marie-Tooth Neuropathy X | |
| | | Duplication | Charcot-Marie-Tooth Neuropathy X | |
| | | Deletion | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephrolithiasis/nephrocalcinosis | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Deletion (5 prime UTR variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X | |