| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Severe myoclonic epilepsy in infancy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SchC6pf-Schulz-Passarge syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (nonsense) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with severe motor impairment and absent language +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autism +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (splice acceptor variant) | Neurodevelopmental delay +4 more | |
| | | Deletion (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | SYNGAP1, SYNGAP1-AS1 (G391fs) | Deletion (frameshift variant) | not provided +2 more | |
| | SYNGAP1, SYNGAP1-AS1 (R967* +1 more) | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 5 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Global developmental delay +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | DeSanto-Shinawi syndrome due to WAC point mutation +1 more | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Hearing loss, autosomal recessive 111 | |
| | | Single nucleotide variant (missense variant) | Wiedemann-Steiner syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Lamb-Shaffer syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | CUX2-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with seizures and language delay +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Nonsyndromic genetic hearing loss | |
| | | Deletion | Leukodystrophy, hypomyelinating, 14 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | prenatal LIG4 syndrome with aqueductal stenosis +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | prenatal LIG4 syndrome with aqueductal stenosis +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Microsatellite (frameshift variant) | not provided | |
| | CPEB1-AS1, AP3B2 (P37fs +3 more) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant) | KBG syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | Fanconi anemia | |
| | | Single nucleotide variant (missense variant) | Snijders Blok-Campeau syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital nongoitrous hypothyroidism 6 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (splice acceptor variant +1 more) | Hypercholanemia, familial | |
| | | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability +1 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Microsatellite (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 33 | |
| | | Deletion (frameshift variant +2 more) | See cases +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | See cases +4 more | |
| | | Single nucleotide variant (splice donor variant) | Ornithine carbamoyltransferase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital muscular hypertrophy-cerebral syndrome | |
| | | Deletion (inframe_deletion) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +8 more | |
| | HNRNPH2, RPL36A-HNRNPH2 (R206W) | Single nucleotide variant (3 prime UTR variant +1 more) | Neurodevelopmental disorder +6 more | GPathogenic/Likely pathogenic |
| | HNRNPH2, RPL36A-HNRNPH2 (R212S) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Intellectual disability +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |