| | | Single nucleotide variant (splice donor variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hogue-Janssens syndrome 1 | |
| | | Deletion (frameshift variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 | |
| | | Indel (5 prime UTR variant +1 more) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hogue-Janssens syndrome 1 +1 more | |
| | MEA1, PPP2R5D (H556Y +3 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hogue-Janssens syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | MEA1, PPP2R5D (E198K +3 more) | Single nucleotide variant (missense variant) | Intellectual disability +6 more | |