| | | Deletion (frameshift variant +1 more) | Treacher Collins syndrome 1 | |
| | | Deletion (frameshift variant) | Emery-Dreifuss muscular dystrophy 1, X-linked | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 11 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | MIRAGE syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | von Willebrand disease type 1 | |
| | LOC125467768, PCDH19 (E754fs) | Microsatellite (frameshift variant +1 more) | Complex cortical dysplasia with other brain malformations 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Complex cortical dysplasia with other brain malformations 7 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2P | |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 7 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 93 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with infantile epileptic spasms | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Insertion (frameshift variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Mitochondrial DNA depletion syndrome 13 | |
| | | Single nucleotide variant (nonsense) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Radio-Tartaglia syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 90 +1 more | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 41 +1 more | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder, autosomal dominant 64 | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | | Single nucleotide variant (missense variant) | Lymphatic malformation 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Deletion (frameshift variant) | Juvenile myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1D | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 99 | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (missense variant) | Congenital microvillous atrophy | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder due to AUTS2 deficiency | |
| | | Deletion (frameshift variant +1 more) | Dilated cardiomyopathy 1G | |
| | | Deletion (inframe_indel) | Autism spectrum disorder due to AUTS2 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 2 | |
| | | Single nucleotide variant (missense variant) | Nicolaides-Baraitser syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephalic primordial dwarfism due to ZNF335 deficiency | |
| | | Single nucleotide variant (missense variant) | Microcephalic primordial dwarfism due to ZNF335 deficiency | |
| | | Single nucleotide variant (nonsense) | Sengers syndrome | |
| | | Deletion (5 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | |
| | | Duplication (inframe_insertion) | Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 2 | |
| | | Single nucleotide variant (splice donor variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 3 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 34 | |
| | | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
| | | Single nucleotide variant (splice donor variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 99 | |
| | | Deletion (splice donor variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | FLNC, FLNC-AS1 (G2631R +1 more) | Single nucleotide variant (missense variant) | Distal myopathy with posterior leg and anterior hand involvement | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis, distal, with impaired proprioception and touch | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 35 | |
| | | Deletion (frameshift variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 99 | |
| | | Single nucleotide variant (nonsense +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (missense variant) | Citrullinemia type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with severe motor impairment and absent language | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked syndromic, Turner type +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | CHARGE syndrome | |
| | | Deletion (frameshift variant +1 more) | not provided +2 more | |
| | LOC130004775, NHLRC2 (E33del) | Deletion (inframe_deletion) | Fibrosis, neurodegeneration, and cerebral angiomatosis | |
| | | Single nucleotide variant (missense variant) | Fibrosis, neurodegeneration, and cerebral angiomatosis | |
| | | Single nucleotide variant (missense variant) | Fibrosis, neurodegeneration, and cerebral angiomatosis | |
| | | Single nucleotide variant (missense variant) | Fibrosis, neurodegeneration, and cerebral angiomatosis | |
| | | Deletion (nonsense) | Fibrosis, neurodegeneration, and cerebral angiomatosis | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with speech impairment and dysmorphic facies | |