| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +21 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Myoclonus +4 more | |
| | | Deletion (frameshift variant) | Hypertelorism +16 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | CNS hypomyelination +10 more | |
| | LOC126806462, SATB2 (Q664*) | Single nucleotide variant (nonsense) | Microcephaly +6 more | |
| | | Single nucleotide variant (nonsense) | Decreased body weight +9 more | |
| | | Single nucleotide variant (nonsense) | Steroid-resistant nephrotic syndrome +10 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly +4 more | |
| | | Single nucleotide variant (missense variant) | Decreased body weight +23 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +15 more | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 9 +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Joubert syndrome 9 +17 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria, cblA type +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Tetralogy of Fallot +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Severe global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Coffin-Siris syndrome 1 +5 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | Astigmatism +12 more | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Intellectual disability +8 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Decreased body weight +14 more | |
| | | Deletion (frameshift variant) | Aplastic anemia +7 more | |
| | | Deletion (frameshift variant) | Progressive visual loss +9 more | |
| | | Single nucleotide variant (nonsense) | not provided +10 more | |
| | | Single nucleotide variant (missense variant) | Severe global developmental delay +1 more | |
| | ENTPD1, ENTPD1-AS1 (V16M +2 more) | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 64 +4 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +3 more | |
| | | Single nucleotide variant (missense variant) | Craniosynostosis syndrome +10 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly | |
| | | Single nucleotide variant (missense variant) | CNS hypomyelination +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever, autosomal dominant +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital cerebellar hypoplasia +14 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Global developmental delay +6 more | |
| | | Copy number loss | Brachydactyly +14 more | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital cerebellar hypoplasia +4 more | |
| | | Microsatellite (frameshift variant +1 more) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Congenital muscular hypertrophy-cerebral syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +6 more | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant) | Absent speech +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Astigmatism +12 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rett syndrome +15 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | Microcephaly +4 more | |