| | | Deletion | Stargardt-like macular dystrophy | |
| | | Single nucleotide variant (missense variant) | Stargardt-like macular dystrophy | |
| | | Deletion (splice donor variant) | Non-ossifying fibromas with pathologic factures and X-linked intellectual disability | |
| | | Deletion (splice acceptor variant) | Lynch syndrome 4 | |
| | | Single nucleotide variant (nonsense) | Familial cancer of breast | |
| | | Deletion (frameshift variant) | Familial cancer of breast | |
| | | Single nucleotide variant (nonsense) | Familial cancer of breast | |
| | | Single nucleotide variant (nonsense +2 more) | Familial cancer of breast | |
| | | Single nucleotide variant (intron variant +1 more) | Familial cancer of breast | |
| | | Deletion (frameshift variant +1 more) | Familial cancer of breast | |
| | | Deletion (frameshift variant +1 more) | Familial cancer of breast | |
| | | Deletion (frameshift variant +2 more) | Hereditary nonpolyposis colorectal neoplasms +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Colorectal cancer, hereditary nonpolyposis, type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Lynch syndrome 1 +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Hereditary nonpolyposis colorectal neoplasms +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Familial cancer of breast | GConflicting classifications of pathogenicity |
| | | Microsatellite | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Insertion | Familial adenomatous polyposis 1 | |
| | | Duplication (splice acceptor variant +1 more) | Achromatopsia 3 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant) | Pes planus +8 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Absent speech +5 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, mild +4 more | |
| | | Single nucleotide variant (missense variant) | Dysphasia +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital stationary night blindness 1G | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 15 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 33 | |
| | | Deletion (frameshift variant) | Isolated microphthalmia 6 | |
| | | Single nucleotide variant (missense variant) | KBG syndrome +3 more | GPathogenic/Likely pathogenic |
| | COL4A2, COL4A2-AS2 (G506D) | Single nucleotide variant (missense variant) | Porencephaly 2 | |
| | | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 106 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 56 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 1 | |
| | | Single nucleotide variant (missense variant) | Trichorhinophalangeal dysplasia type I +1 more | |
| | | Single nucleotide variant (intron variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | | Single nucleotide variant (missense variant) | Andersen Tawil syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | |
| | LOC126860392, RP1 (Y1636*) | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 1 | |
| | | Deletion (splice donor variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Tibial muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile convulsions and choreoathetosis | |
| | | Microsatellite (intron variant) | Basal laminar drusen | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Primary open angle glaucoma | |
| | | Single nucleotide variant (missense variant) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Single nucleotide variant (splice acceptor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (nonsense) | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia 5 | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (splice acceptor variant) | Microcephaly 13, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | |
| | | Single nucleotide variant (missense variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | Porencephaly 2 | |
| | | Single nucleotide variant (missense variant) | Isolated focal cortical dysplasia type II | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive hyper-IgE syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | |
| | | Indel (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | 4p partial monosomy syndrome | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | |
| | KCNQ5-DT, LOC129996711
+1 more (W17R) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 46 | |
| | | Deletion (frameshift variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | TTN, TTN-AS1 (R32130fs +5 more) | Indel (frameshift variant) | Tibial muscular dystrophy | |
| | | Single nucleotide variant (splice donor variant) | Glycogen storage disease, type VI | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 | |
| | | Single nucleotide variant (nonsense +2 more) | See cases | |
| | ERCC6, ERCC6-PGBD3
+1 more (Q566* +1 more) | Single nucleotide variant (nonsense +1 more) | Cerebrooculofacioskeletal syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +2 more | |
| | | Single nucleotide variant (missense variant) | Cataract 21 multiple types | |
| | | Single nucleotide variant (missense variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Spastic tetraplegia and axial hypotonia, progressive +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Enhanced S-cone syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Vitelliform macular dystrophy 2 | |
| | | Single nucleotide variant (nonsense) | COL7A1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa pruriginosa | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 4 | |
| | | Single nucleotide variant (missense variant) | X-linked Alport syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Multiple endocrine neoplasia type 2B | |
| | CNPY3, CNPY3-GNMT (Q245fs +2 more) | Deletion (frameshift variant +2 more) | Developmental and epileptic encephalopathy, 60 | |
| | | Deletion (frameshift variant +1 more) | Marshall-Smith syndrome | |
| | | Single nucleotide variant (splice donor variant) | Achondrogenesis type II +1 more | |
| | CYP11B1, LOC106799833 (H256Y) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |