| | | Single nucleotide variant (intron variant) | Marfan syndrome | |
| | | Duplication (frameshift variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Growth delay due to insulin-like growth factor I resistance | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | PKHD1, LOC126859690 (S1734fs) | Deletion (frameshift variant) | Polycystic kidney disease 4 | |
| | | Deletion (frameshift variant) | Hematuria, benign familial, 1 | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with or without autism or seizures | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 18B | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, periodontal type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Familial X-linked hypophosphatemic vitamin D refractory rickets | |
| | | Indel (missense variant +1 more) | Polycystic kidney disease 2 | |
| | TTN, TTN-AS1 (V17770fs +5 more) | Deletion (frameshift variant) | Dilated cardiomyopathy 1G | |
| | | Single nucleotide variant (missense variant) | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | Myofibrillar myopathy 11 | |
| | TTN, TTN-AS1 (S26034fs +5 more) | Microsatellite (frameshift variant) | Early-onset myopathy with fatal cardiomyopathy | |
| | | Deletion (frameshift variant) | X-linked Alport syndrome | |
| | | Duplication (nonsense) | Autism spectrum disorder due to AUTS2 deficiency | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to muscle beta-enolase deficiency | |
| | | Duplication (frameshift variant) | Cortical dysplasia, complex, with other brain malformations 11 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Indel (missense variant) | Harel-Yoon syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cole-Carpenter syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Acral peeling skin syndrome | |
| | | Duplication (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 3 | |
| | DNAAF3, DNAAF3-AS1 (Q26* +1 more) | Single nucleotide variant (nonsense +1 more) | Primary ciliary dyskinesia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hypertrophic cardiomyopathy 9 | |
| | | Single nucleotide variant (missense variant) | VISS syndrome | |
| | | Single nucleotide variant (nonsense) | Cole-Carpenter syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome | |
| | | Single nucleotide variant (nonsense) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | |
| | | Single nucleotide variant (intron variant) | X-linked Alport syndrome | |
| | | Deletion (splice donor variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant) | Cognitive impairment with or without cerebellar ataxia | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive nonsyndromic hearing loss 18A | |
| | | Duplication (frameshift variant) | Developmental delay with variable intellectual impairment and behavioral abnormalities | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Deletion (frameshift variant) | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Nephrotic syndrome, type 12 | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 7, autosomal | |
| | | Deletion (frameshift variant) | Heterotaxy, visceral, 7, autosomal | |
| | | Single nucleotide variant (nonsense) | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group A | |
| | | Single nucleotide variant (missense variant) | 8q24.3 microdeletion syndrome | |
| | | Duplication (splice acceptor variant) | SIN3A-related intellectual disability syndrome due to a point mutation | |
| | | Deletion (frameshift variant) | Acromesomelic dysplasia 1, Maroteaux type | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Persistent hyperplastic primary vitreous, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 20 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | |
| | | Duplication (non-coding transcript variant +1 more) | Primary ciliary dyskinesia 9 | |
| | | Deletion (frameshift variant) | X-linked Alport syndrome | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (nonsense) | Chondrodysplasia punctata 2 X-linked dominant | |
| | TTN, TTN-AS1 (E16209fs +5 more) | Deletion (frameshift variant) | Dilated cardiomyopathy 1G | |
| | TTN, TTN-AS1 (E22681G +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | |
| | | Deletion (frameshift variant) | Landau-Kleffner syndrome | |
| | | Deletion (frameshift variant) | Epilepsy, idiopathic generalized, susceptibility to, 15 | |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 5 | |
| | | Single nucleotide variant (missense variant) | Reduced bone mineral density +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome 5 | |
| | | Indel (missense variant) | Cole-Carpenter syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Pseudohypoparathyroidism type I A | |
| | | Deletion (frameshift variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (nonsense +1 more) | Microcephaly 3, primary, autosomal recessive | |
| | | Single nucleotide variant (nonsense +1 more) | PPARG-related familial partial lipodystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 8 | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, classic type, 1 | |
| | HPRT1, LOC107032760
+1 more (M1V) | Single nucleotide variant (missense variant +1 more) | Lesch-Nyhan syndrome | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Benign familial hematuria | |
| | | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | X-linked Alport syndrome | |
| | | Insertion (frameshift variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Benign familial hematuria | |
| | | Deletion (frameshift variant) | Townes-Brocks syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations | |
| | | Single nucleotide variant (nonsense) | X-linked Alport syndrome | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Deletion (frameshift variant +2 more) | Generalized epilepsy with febrile seizures plus, type 2 | |
| | | Deletion (intron variant) | Ehlers-Danlos syndrome, classic type, 1 | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 43 | |
| | | Insertion (frameshift variant) | Primary hyperoxaluria, type I | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (intron variant) | Severe dermatitis-multiple allergies-metabolic wasting syndrome | |
| | | Single nucleotide variant (nonsense) | Epilepsy, early-onset, with or without developmental delay +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive hypophosphatemic bone disease | |
| | | Single nucleotide variant (nonsense) | Polycystic kidney disease 4 | |
| | | Single nucleotide variant (missense variant) | Mandibulofacial dysostosis-microcephaly syndrome | |
| | | Single nucleotide variant (intron variant) | X-linked Alport syndrome | |
| | | Single nucleotide variant (missense variant +5 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |