| | | Single nucleotide variant (missense variant +2 more) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | CTNNB1, LOC126806659 (R474* +1 more) | Single nucleotide variant (nonsense) | Pilomatrixoma +11 more | |
| | | Deletion (inframe_deletion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more | |
| | LOC129996711, KCNQ5
+1 more (R3S) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 46 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | ACTL6B-related BAFopathy +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Intellectual disability +3 more | |
| | | Copy number loss | Intellectual disability | |
| | | Microsatellite (splice donor variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Intellectual disability +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability +11 more | |
| | | Single nucleotide variant (missense variant) | See cases +7 more | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rett syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Rett syndrome +7 more | |