| | | Copy number gain | Epilepsy, familial focal, with variable foci 1 | |
| | | Single nucleotide variant (nonsense) | Cystinuria | |
| | | Deletion (splice acceptor variant) | Fanconi anemia complementation group A | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | |
| | | Deletion (frameshift variant) | Greig cephalopolysyndactyly syndrome | |
| | | Deletion (frameshift variant) | Severe X-linked myotubular myopathy | |
| | | Indel (missense variant +1 more) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | |
| | | Microsatellite (frameshift variant) | KBG syndrome | |
| | | Duplication (frameshift variant) | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Alport syndrome | |
| | | Duplication (frameshift variant) | DYRK1A-related intellectual disability syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type 7 | |
| | | Single nucleotide variant (nonsense) | Capillary malformation-arteriovenous malformation 2 | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis 2 | |
| | | Deletion (inframe_deletion) | Mitochondrial trifunctional protein deficiency 2 | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Indel (frameshift variant +2 more) | Pancreatic cancer, susceptibility to, 2 | |
| | | Duplication (frameshift variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary angioedema type 1 | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy type 7 | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease X-linked dominant 1 | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 51 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (missense variant +3 more) | Spinocerebellar ataxia type 42 | |
| | | Duplication (frameshift variant +1 more) | Spastic ataxia 1 | |
| | | Single nucleotide variant (missense variant) | Lissencephaly type 1 due to doublecortin gene mutation | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 3A | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, X-linked, syndromic, Houge type | |
| | | Deletion (nonsense) | Spondylocarpotarsal synostosis syndrome | |
| | | Deletion (splice acceptor variant +1 more) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive multiple pterygium syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | TCF12-related craniosynostosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-B +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant) | Dyggve-Melchior-Clausen syndrome | |
| | | Deletion (inframe_deletion +1 more) | Pseudohypoparathyroidism type 1C +1 more | |
| | | Single nucleotide variant (missense variant) | X-linked Alport syndrome | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Wolfram syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Myoclonic epilepsy of Lafora 2 | |
| | | Deletion (intron variant) | Intellectual disability, X-linked 102 | |
| | | Deletion (frameshift variant) | Seizures, benign familial neonatal, 2 | |
| | | Duplication (5 prime UTR variant +1 more) | Autosomal dominant optic atrophy classic form | |
| | | Duplication | Ataxia-telangiectasia syndrome | |
| | | Duplication (frameshift variant) | Hereditary angioedema type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |