| | | Single nucleotide variant (missense variant) | Phosphoribosylpyrophosphate synthetase superactivity | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hearing loss, X-linked 1 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Arts syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Arts syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hearing loss, X-linked 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hearing loss, X-linked 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hearing loss, X-linked 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Phosphoribosylpyrophosphate synthetase superactivity +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Phosphoribosylpyrophosphate synthetase superactivity +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Phosphoribosylpyrophosphate synthetase superactivity +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Phosphoribosylpyrophosphate synthetase superactivity | |
| | | Single nucleotide variant (missense variant +1 more) | Phosphoribosylpyrophosphate synthetase superactivity | |
| | | Single nucleotide variant (synonymous variant) | PRPS1-related disorder +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth Neuropathy X +6 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +6 more | |
| | | Duplication (3 prime UTR variant) | X-linked nonsyndromic hearing loss +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Arts syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hearing loss, X-linked 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hearing loss, X-linked 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Phosphoribosylpyrophosphate synthetase superactivity +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hearing loss, X-linked 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hearing loss, X-linked 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hearing loss, X-linked 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hearing loss, X-linked 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Phosphoribosylpyrophosphate synthetase superactivity +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +4 more | |
| | | Deletion | X-linked nonsyndromic hearing loss +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | History of neurodevelopmental disorder +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hearing loss, X-linked 1 +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +6 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Phosphoribosylpyrophosphate synthetase superactivity | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Phosphoribosylpyrophosphate synthetase superactivity | |
| | | Single nucleotide variant (missense variant +1 more) | Phosphoribosylpyrophosphate synthetase superactivity | |
| | | Single nucleotide variant (missense variant +1 more) | Phosphoribosylpyrophosphate synthetase superactivity | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Arts syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |