| | | Single nucleotide variant (missense variant +1 more) | Renpenning syndrome | |
| | | Deletion (frameshift variant +1 more) | Renpenning syndrome | |
| | | Deletion (inframe_deletion +1 more) | Renpenning syndrome | |
| | | Deletion (frameshift variant) | Renpenning syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Renpenning syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Renpenning syndrome | |
| | | Deletion (frameshift variant +1 more) | Renpenning syndrome | |
| | | Deletion (frameshift variant +1 more) | Renpenning syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | PQBP1-related disorder +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Renpenning syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | PQBP1, SLC35A2 (R114W +4 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | LOC130068256, PQBP1 (L11S) | Single nucleotide variant (missense variant) | Renpenning syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Renpenning syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Renpenning syndrome | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Renpenning syndrome | |
| | | Single nucleotide variant (nonsense) | Renpenning syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Renpenning syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Renpenning syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Renpenning syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Renpenning syndrome | |
| | | Single nucleotide variant (intron variant) | Renpenning syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Renpenning syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +1 more | |
| | | Microsatellite (frameshift variant) | Renpenning syndrome | |
| | | Single nucleotide variant (missense variant) | Renpenning syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Renpenning syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Renpenning syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | History of neurodevelopmental disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Renpenning syndrome | |
| | | Deletion (inframe_deletion +1 more) | not specified +2 more | |
| | | Deletion (frameshift variant +1 more) | Renpenning syndrome | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Renpenning syndrome | |
| | | Microsatellite (frameshift variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Renpenning syndrome +1 more | |