| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | KCNH1-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Mowat-Wilson syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 27 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Seizure +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bailey-Bloch congenital myopathy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Marfan syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Marfan syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | KBG syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Generalized myoclonic seizure +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Adenylosuccinate lyase deficiency +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hearing impairment +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant +2 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Rett syndrome | |
| | | Deletion (frameshift variant) | Rett syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Autism, susceptibility to, X-linked 3 +15 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Rett syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |