| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (splice donor variant) | Polycystic kidney disease 2 | |
| | | Microsatellite (inframe_deletion) | Growth delay due to insulin-like growth factor I resistance | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 56 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with speech impairment and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 29 | |
| | | Indel (intron variant +3 more) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 45 | |
| | | Single nucleotide variant (missense variant) | Periventricular nodular heterotopia 9 | |
| | | Single nucleotide variant (missense variant) | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | |
| | CAMTA1, LOC126805603 (S1258G +3 more) | Single nucleotide variant (missense variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 99 | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 29 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 104 | |
| | | Single nucleotide variant (splice acceptor variant) | Lesch-Nyhan syndrome | |
| | | Single nucleotide variant (missense variant) | Angioedema, hereditary, 8 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 11 | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 40 | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 40 | |
| | CFAP65, LOC100129175 (P1477S) | Single nucleotide variant (non-coding transcript variant +1 more) | Spermatogenic failure 40 | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | |
| | | Single nucleotide variant (intron variant) | Hereditary pancreatitis | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Protein Z deficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 22 | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 3 | |
| | | Single nucleotide variant (missense variant) | SCOTT SYNDROME | |
| | | Single nucleotide variant (missense variant +1 more) | Pseudohypoparathyroidism type I A | |
| | | Single nucleotide variant (missense variant) | O'Donnell-Luria-Rodan syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial focal, with variable foci 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital factor VII deficiency | |
| | | Single nucleotide variant (nonsense) | Developmental delay with variable intellectual impairment and behavioral abnormalities | |
| | TTN, TTN-AS1 (P23822Q +5 more) | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1G | |
| | | Deletion (frameshift variant) | Autosomal dominant Robinow syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 1 | |
| | | Indel (intron variant) | Marfan syndrome | |
| | | Duplication (frameshift variant) | Developmental delay with dysmorphic facies and dental anomalies | |
| | | Single nucleotide variant (nonsense) | Complex cortical dysplasia with other brain malformations 7 | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome 1 | |
| | EPS8L2, LOC130005076 (H154Y) | Single nucleotide variant (missense variant) | Hearing loss, autosomal recessive 106 | |
| | | Single nucleotide variant (missense variant) | Autism, susceptibility to, 5 | |
| | | Microsatellite (frameshift variant) | Periventricular nodular heterotopia 9 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 29 | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IXa1 | |
| | | Single nucleotide variant (missense variant) | Ovarian dysgenesis 2 | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 20 | |
| | | Single nucleotide variant (missense variant) | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 107 | |
| | | Single nucleotide variant (missense variant +1 more) | Pigmented paravenous retinochoroidal atrophy | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 | |
| | | Single nucleotide variant (missense variant) | von Willebrand disease type 1 | |
| | | Single nucleotide variant (missense variant) | Factor XIII, A subunit, deficiency of | |
| | | Deletion (inframe_deletion) | Coffin-Siris syndrome 10 | |
| | | Deletion (frameshift variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 99, syndromic, female-restricted | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability-short stature-overweight syndrome | |
| | | Single nucleotide variant (missense variant) | Familial dysfibrinogenemia | |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 74 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Ehlers-Danlos syndrome, periodontal type 2 | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Deletion (frameshift variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hearing loss, autosomal dominant 71 | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 24 without anosmia | |
| | | Deletion (frameshift variant) | von Willebrand disease type 1 | |
| | EIF2S3, LOC130068055 (T22I) | Single nucleotide variant (missense variant) | MEHMO syndrome | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 17 | |
| | | Single nucleotide variant (missense variant) | 3 beta-Hydroxysteroid dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | TBC1D7-LOC100130357, PHACTR1
+1 more (A456G +4 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (missense variant) | Complex cortical dysplasia with other brain malformations 3 | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 8 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 69 | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 2 | |
| | | Duplication (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 67 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 65 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal recessive 65 | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability, Cantagrel type | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary antithrombin deficiency | |
| | | Deletion (frameshift variant) | Hereditary antithrombin deficiency | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Koolen-de Vries syndrome | |
| | | Deletion (frameshift variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA deletion syndrome with progressive myopathy | |
| | | Single nucleotide variant (missense variant) | Platelet-type bleeding disorder 17 | |
| | | Single nucleotide variant (missense variant) | Hereditary antithrombin deficiency | |
| | | Single nucleotide variant (missense variant) | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, classic type, 2 | |
| | | Duplication (frameshift variant) | von Willebrand disease type 1 | |