| | | Duplication (frameshift variant) | Cornelia de Lange syndrome 3 | |
| | | Insertion (inframe_insertion) | GTP cyclohydrolase I deficiency with hyperphenylalaninemia | |
| | | Single nucleotide variant (splice acceptor variant) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dilated cardiomyopathy 1G | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Insertion (frameshift variant) | Emery-Dreifuss muscular dystrophy 1, X-linked | |
| | | Single nucleotide variant (nonsense) | Sideroblastic anemia 2 | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
| | | Deletion (frameshift variant) | Qualitative or quantitative defects of dysferlin | |
| | | Deletion (frameshift variant) | COL4A1-related disorder | |
| | | Deletion (frameshift variant +1 more) | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | |
| | | Deletion (splice donor variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Microsatellite (frameshift variant) | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
| | | Single nucleotide variant (missense variant) | Shashi-Pena syndrome | |
| | | Deletion (frameshift variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 7 | |
| | | Single nucleotide variant (missense variant) | Beck-Fahrner syndrome | |
| | | Deletion (frameshift variant) | Mowat-Wilson syndrome | |
| | | Single nucleotide variant (missense variant) | Visceral myopathy 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, X-linked 104 | |
| | | Single nucleotide variant (missense variant) | Collagen 6-related myopathy | |
| | | Single nucleotide variant (nonsense) | Bohring-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 16 | |
| | | Indel (missense variant) | Shashi-Pena syndrome | |
| | | Insertion (frameshift variant) | Shashi-Pena syndrome | |
| | | Deletion (inframe_deletion) | Mullegama-Klein-Martinez syndrome | |
| | | Deletion (frameshift variant) | O'Donnell-Luria-Rodan syndrome | |
| | | Deletion (frameshift variant) | Bohring-Opitz syndrome | |
| | KISS1R, LOC130062853 (N78S) | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 8 with or without anosmia | |
| | | Duplication (frameshift variant) | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | |
| | | Insertion (frameshift variant) | Neurodevelopmental disorder with speech impairment and dysmorphic facies | |
| | | Deletion (inframe_deletion) | Intellectual disability, X-linked syndromic, Turner type | |
| | | Single nucleotide variant (nonsense) | Left ventricular noncompaction 8 | |
| | LOC126806428, TTN (W5833* +2 more) | Single nucleotide variant (nonsense +1 more) | TTN-Related Disorders | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with speech impairment and dysmorphic facies | |
| | | Duplication (splice acceptor variant) | Weaver syndrome | |
| | | Single nucleotide variant (missense variant) | Hypothyroidism, congenital, nongoitrous, 2 | |
| | LOC126806462, SATB2 (I660del) | Microsatellite (inframe_deletion) | SATB2 associated disorder | |
| | | Duplication (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Deletion (splice acceptor variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Duplication (frameshift variant) | Mandibulofacial dysostosis-microcephaly syndrome | |
| | | Deletion (frameshift variant +3 more) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (missense variant) | Mandibulofacial dysostosis-microcephaly syndrome | |
| | | Single nucleotide variant (missense variant) | Nephrotic syndrome, type 12 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 107 | |
| | | Duplication (frameshift variant +1 more) | Congenital secretory sodium diarrhea 3 | |
| | | Single nucleotide variant (missense variant) | Syndromic microphthalmia type 5 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | ALAS2, LOC108663984 (S49F +1 more) | Single nucleotide variant (missense variant) | X-linked sideroblastic anemia 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Microsatellite (frameshift variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | LOC108281177, SOX2
+1 more (F48V) | Single nucleotide variant (missense variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 2A | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly-hypokinesia-congenital contractures syndrome | |
| | TTN-AS1, TTN (T23951fs +5 more) | Insertion (non-coding transcript variant +1 more) | TTN-Related Disorders | |
| | | Single nucleotide variant (missense variant) | Glycosylphosphatidylinositol biosynthesis defect 21 | |
| | | Single nucleotide variant (nonsense) | Oculocutaneous albinism type 4 | |
| | | Deletion (frameshift variant) | Townes-Brocks syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Tolchin-Le Caignec syndrome | |
| | | Single nucleotide variant (missense variant) | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | |
| | | Deletion (nonsense) | Osteopathia striata with cranial sclerosis | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 14 with or without anosmia | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy, hypomyelinating, 18 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 8 | |
| | | Single nucleotide variant (intron variant) | Glycosylphosphatidylinositol biosynthesis defect 21 | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE association | |
| | | Duplication (frameshift variant) | Skraban-Deardorff syndrome | |
| | | Single nucleotide variant (splice donor variant) | Neurodegeneration with brain iron accumulation 5 | |
| | LOC340512, ZNF462 (V1488fs +1 more) | Deletion (frameshift variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hoyeraal-Hreidarsson syndrome | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 26 | |
| | | Single nucleotide variant (missense variant) | Mandibulofacial dysostosis-microcephaly syndrome | |
| | | Single nucleotide variant (nonsense) | Wiedemann-Steiner syndrome | |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Insertion (inframe_indel) | Kleefstra syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Allan-Herndon-Dudley syndrome | |
| | | Single nucleotide variant (synonymous variant) | Collagen 6-related myopathy | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with autistic features and language delay, with or without seizures | |
| | KMT2A, TTC36-AS1 (K3954fs +2 more) | Deletion (frameshift variant) | Wiedemann-Steiner syndrome | |
| | | Deletion (frameshift variant) | Congenital heart defects, multiple types, 4 | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 43 | |
| | | Microsatellite (frameshift variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Duplication (frameshift variant) | KBG syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Intellectual disability, X-linked 96 | |
| | | Duplication (frameshift variant) | Allan-Herndon-Dudley syndrome | |
| | | Single nucleotide variant (nonsense) | Kabuki syndrome 1 | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Microsatellite (frameshift variant) | Qualitative or quantitative defects of dysferlin | |
| | | Single nucleotide variant (nonsense) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |