| | | Single nucleotide variant (missense variant) | Hemolytic anemia | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary spherocytosis | |
| | | Microsatellite (frameshift variant) | Hereditary spherocytosis | |
| | | Single nucleotide variant (nonsense) | Hereditary spherocytosis | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked lymphoproliferative disease due to SH2D1A deficiency | |
| | | Deletion (frameshift variant) | X-linked severe combined immunodeficiency | |
| | | Deletion (frameshift variant) | Monocytopenia with susceptibility to infections | |
| | | Single nucleotide variant (missense variant) | X-linked severe combined immunodeficiency | |
| | | Deletion (frameshift variant) | Aplastic anemia +1 more | |
| | | Deletion (frameshift variant) | Immunodeficiency 75 | |
| | | Indel (frameshift variant +1 more) | Monocytopenia with susceptibility to infections | |
| | | Single nucleotide variant (missense variant) | Hemolytic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 2 | |
| | | Single nucleotide variant (nonsense) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 22 | |
| | SNHG14, UBE3A (K384fs +8 more) | Duplication (frameshift variant +1 more) | Angelman syndrome | |
| | | Single nucleotide variant (missense variant) | Tubulinopathy | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tubulinopathy | |
| | | Deletion (splice donor variant) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Duplication (inframe_insertion) | Generalized epilepsy with febrile seizures plus, type 9 | |
| | | Microsatellite (frameshift variant +2 more) | ZTTK syndrome | |
| | | Single nucleotide variant (missense variant) | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 41 | |
| | | Single nucleotide variant (intron variant) | SIN3A-related intellectual disability syndrome due to a point mutation | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant +1 more) | Autism, susceptibility to, 17 | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 13 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 13 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 13 | |
| | | Single nucleotide variant (nonsense) | Epilepsy, childhood absence, susceptibility to, 6 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 13 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 11 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 11 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 11 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 11 | |
| | | Insertion (frameshift variant) | Non-syndromic intellectual disability | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (intron variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant +1 more) | Generalized epilepsy with febrile seizures plus, type 2 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | |
| | | Single nucleotide variant (missense variant +2 more) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly-autism syndrome | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 9 | |
| | | Single nucleotide variant (missense variant) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (nonsense) | Non-syndromic intellectual disability | Gno classifications from unflagged records |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 30 | |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 7 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 26 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 32 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 32 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, X-linked 1 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 1 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Deletion (intron variant) | Au-Kline syndrome | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 24 | |
| | | Single nucleotide variant (missense variant) | Alternating hemiplegia of childhood 2 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 24 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 46 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 6 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 74 | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy, infantile or early childhood, 2 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 13 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 19 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 13 | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
| | | Duplication (frameshift variant +1 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 33 | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 31A | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 31A | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 31A | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Indel (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 2 | |
| | | Single nucleotide variant (missense variant) | Dyskinesia with orofacial involvement, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | X-linked agammaglobulinemia | |
| | CACNA1A, LOC126862864 (V1393A +2 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Complex neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Autoinflammatory syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 26 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | VEXAS syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inflammatory bowel disease 28 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease +1 more | |