| | | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant) | Mowat-Wilson syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Wieacker-Wolff syndrome, female-restricted | |
| | | Single nucleotide variant (missense variant +1 more) | Hao-Fountain syndrome | |
| | SNHG14, UBE3A (G124E +5 more) | Single nucleotide variant (missense variant +1 more) | Angelman syndrome | |
| | | Deletion (inframe_deletion +1 more) | Saethre-Chotzen syndrome | |
| | | Single nucleotide variant (missense variant) | Lissencephaly due to TUBA1A mutation | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal dominant 51 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 51 | |
| | | Deletion (frameshift variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Wiedemann-Steiner syndrome | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 | |
| | | Single nucleotide variant (missense variant) | Koolen-de Vries syndrome | |
| | | Duplication (frameshift variant) | Koolen-de Vries syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Deletion (frameshift variant) | Intellectual disability, X-linked 58 | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual developmental disorder, autosomal recessive 68 | |
| | | Insertion (frameshift variant) | Clark-Baraitser syndrome | |
| | | Insertion (frameshift variant) | Developmental delay with variable intellectual impairment and behavioral abnormalities | |
| | | Microsatellite (frameshift variant) | Developmental delay with variable intellectual impairment and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins syndrome | |
| | | Single nucleotide variant (missense variant) | Autism, susceptibility to, 5 | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 41 | |
| | | Single nucleotide variant (nonsense) | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
| | | Deletion (frameshift variant +1 more) | Ellis-van Creveld syndrome | |
| | EPHB4, LOC126860124 (Q869fs) | Duplication (frameshift variant) | Capillary malformation-arteriovenous malformation 2 | |
| | | Deletion (intron variant) | Mandibulofacial dysostosis-microcephaly syndrome | |
| | DYNC1H1, LOC126862060 (P3070L) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (missense variant) | Lissencephaly type 1 due to doublecortin gene mutation | |
| | | Deletion (splice donor variant) | SSR4-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Partial agenesis of the corpus callosum | |
| | | Deletion (frameshift variant +1 more) | Luscan-Lumish syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 29 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 13 | |
| | LOC102724058, SCN1A (V1738D +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | CTNNB1, LOC126806658 (G209R +1 more) | Single nucleotide variant (missense variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | | Single nucleotide variant (nonsense) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, X-linked 49 | |
| | | Duplication (nonsense) | Intellectual disability, autosomal dominant 40 | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | |
| | | Single nucleotide variant (missense variant) | Timothy syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual developmental disorder with dysmorphic facies and ptosis | |
| | | Single nucleotide variant (missense variant) | BCL11B-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder due to AUTS2 deficiency | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Duplication (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Deletion (frameshift variant) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (nonsense) | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (splice acceptor variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Deletion (frameshift variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Indel (inframe_indel) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Indel (frameshift variant) | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Childhood apraxia of speech +1 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy | |
| | | Single nucleotide variant (nonsense) | Heterotaxy | |
| | | Single nucleotide variant (missense variant) | Heterotaxy | |
| | | Duplication (frameshift variant) | Heterotaxy | |
| | | Microsatellite (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy | |
| | CFAP298, CFAP298-TCP10L (A103D) | Single nucleotide variant (missense variant +2 more) | Heterotaxy | |
| | | Deletion (3 prime UTR variant +2 more) | Heterotaxy | |
| | | Duplication (inframe_insertion +1 more) | Heterotaxy | |
| | | Insertion (frameshift variant) | Heterotaxy | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Abnormality of the dentition +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Neurofibromatosis, type 1 +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Duplication (frameshift variant) | KBG syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder, autosomal recessive 68 | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia +2 more | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Neurodevelopmental disorder with speech impairment and dysmorphic facies | |
| | SYNGAP1, SYNGAP1-AS1 (G391fs) | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 3 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |