| | | Single nucleotide variant (nonsense +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Macrocephaly, dysmorphic facies, and psychomotor retardation | |
| | | Single nucleotide variant (missense variant +1 more) | Hao-Fountain syndrome due to USP7 mutation | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 41 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Maple syrup urine disease type 2 | |
| | | Single nucleotide variant (nonsense) | MED12-related disorder | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (nonsense +1 more) | Epilepsy, familial focal, with variable foci 1 | |
| | | Single nucleotide variant (nonsense) | X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 56 | |
| | | Deletion (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Microsatellite (frameshift variant) | Alstrom syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 52 | |
| | | Single nucleotide variant (missense variant) | Deficiency of galactokinase | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (frameshift variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations +1 more | |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Macular degeneration, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-I-S +2 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 12 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 58 | |
| | | Single nucleotide variant (missense variant +3 more) | Severe myoclonic epilepsy in infancy +3 more | |
| | | Single nucleotide variant (missense variant) | Schaaf-Yang syndrome | |
| | | Single nucleotide variant (missense variant) | Methylmalonic acidemia with homocystinuria, type cblX | |
| | | Single nucleotide variant (missense variant +1 more) | Menkes kinky-hair syndrome | |
| | | Single nucleotide variant (missense variant) | Lissencephaly 9 with complex brainstem malformation | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | Global developmental delay with speech and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Macrocephaly, dysmorphic facies, and psychomotor retardation | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (splice donor variant) | Pelizaeus-Merzbacher disease +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 106 | |
| | | Duplication | Developmental and epileptic encephalopathy 91 +1 more | |
| | | Single nucleotide variant (missense variant) | Parenti-mignot neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | WDR5-related neurodevelopmental delay | |
| | | Single nucleotide variant (nonsense) | MAGED1-related neurodevelopmental delay | |
| | | Single nucleotide variant (missense variant) | Microphthalmia, isolated, with coloboma 5 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | MAP4K4-related neurodevelopmental delay | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Left ventricular noncompaction 8 | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies +1 more | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 108 | |
| | | Single nucleotide variant (nonsense) | ACCES syndrome | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia, type 9 +2 more | |
| | | Deletion | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
| | | Deletion (frameshift variant) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Ophthalmoplegia, external, with rib and vertebral anomalies | |
| | | Deletion (intron variant) | Landau-Kleffner syndrome | |
| | | Single nucleotide variant (missense variant) | Periventricular nodular heterotopia 7 | |
| | ARX, LOC109610631 (A142fs) | Deletion (frameshift variant) | X-linked lissencephaly with abnormal genitalia | |
| | | Deletion (frameshift variant) | Arrhythmogenic right ventricular dysplasia 9 | |
| | | Single nucleotide variant (stop lost) | Interstitial lung disease specific to childhood | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (nonsense) | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 5 | |
| | | Duplication (frameshift variant +1 more) | Epilepsy, familial focal, with variable foci 1 | |
| | | Deletion (frameshift variant +2 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
| | | Deletion (frameshift variant) | Wiedemann-Steiner syndrome | |
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | | Microsatellite (frameshift variant +1 more) | Stickler syndrome, type I, nonsyndromic ocular | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with infantile epileptic spasms +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Houge-Janssens syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Single nucleotide variant (nonsense) | Mowat-Wilson syndrome | |
| | EPM2A, EPM2A-DT
+1 more (A46fs) | Deletion (frameshift variant +2 more) | Myoclonic epilepsy of Lafora 1 | |
| | | Duplication | Mandibulofacial dysostosis-microcephaly syndrome | |
| | | Deletion (frameshift variant +1 more) | Osteoporosis, childhood- or juvenile-onset, with developmental delay +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 24 | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | |
| | | Single nucleotide variant (splice donor variant) | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 52 | |
| | | Single nucleotide variant (missense variant) | Hypotrichosis 14 | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 9 +1 more | |
| | LOC126806462, SATB2 (P589fs) | Duplication (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, X-linked, syndromic, Houge type | |
| | | Duplication (nonsense) | Beck-Fahrner syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Duplication (frameshift variant +1 more) | Holoprosencephaly 12 with or without pancreatic agenesis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Luscan-Lumish syndrome +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 84A | |
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 19 | |
| | | Deletion (inframe_indel +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Noonan syndrome 9 | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, X-linked 99, syndromic, female-restricted | |