| | | Single nucleotide variant (nonsense) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (nonsense) | Deficiency of ribose-5-phosphate isomerase +1 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (intron variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (missense variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of ribose-5-phosphate isomerase +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Microsatellite (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase +1 more | |
| | | Deletion (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of ribose-5-phosphate isomerase +1 more | |
| | | Deletion (intron variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (missense variant) | Deficiency of ribose-5-phosphate isomerase +1 more | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of ribose-5-phosphate isomerase +1 more | |
| | | Single nucleotide variant (intron variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (intron variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (missense variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (missense variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (missense variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Single nucleotide variant (missense variant) | Deficiency of ribose-5-phosphate isomerase | |
| | | Deletion (frameshift variant) | Deficiency of ribose-5-phosphate isomerase | |