| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Duplication (frameshift variant) | Bohring-Opitz syndrome | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (intron variant) | Achondroplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (inframe_deletion) | Dilated cardiomyopathy 1CC +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Indel (intron variant) | MHC class I deficiency | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 8 | |
| | | Indel (intron variant) | Paroxysmal extreme pain disorder +2 more | |
| | RUNX1, RUNX1-AS1 (V103fs +1 more) | Duplication (frameshift variant) | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Indel (inframe_indel) | Ornithine carbamoyltransferase deficiency | |
| | | Deletion (frameshift variant) | Rhabdomyolysis, susceptibility to, 1 | |
| | | Microsatellite (inframe_deletion) | Long QT syndrome 11 | |
| | | Indel (frameshift variant +1 more) | Agammaglobulinemia 2, autosomal recessive | |
| | | Indel (missense variant) | Developmental and epileptic encephalopathy, 46 | |
| | | Microsatellite (intron variant) | Epilepsy, idiopathic generalized, susceptibility to, 10 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Indel (frameshift variant) | Macular degeneration, early-onset +1 more | |
| | | Indel (frameshift variant) | Fanconi anemia complementation group L | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Microsatellite (inframe_deletion) | Thrombocytopenia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (frameshift variant +1 more) | C1Q deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC126807246, PDLIM3 (Q124R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not provided | |
| | | Insertion (inframe_indel) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Insertion (frameshift variant) | Type 2 diabetes mellitus +3 more | |
| | | Single nucleotide variant (missense variant) | Geleophysic dysplasia 2 +7 more | |
| | | Insertion (3 prime UTR variant +2 more) | Primary ciliary dyskinesia 7 | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +3 more | |
| | | Single nucleotide variant (missense variant) | Complement component 9 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune disease, multisystem, infantile-onset, 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 15 +1 more | |
| | SNHG14, UBE3A (Y308fs +6 more) | Duplication (frameshift variant +2 more) | Angelman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 35 | |
| | TTN, TTN-AS1 (Y12353* +5 more) | Insertion (nonsense) | Hypertrophic cardiomyopathy 9 +5 more | |
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 5 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more | |
| | | Single nucleotide variant (nonsense) | Autoinflammatory syndrome, familial, Behcet-like 1 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, periodontal type 1 | |
| | | Single nucleotide variant (intron variant) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 8, autosomal dominant +1 more | |
| | LOC109286563, TBX21 (P38Q) | Single nucleotide variant (missense variant) | Asthma, nasal polyps, and aspirin intolerance +1 more | |
| | | Single nucleotide variant (synonymous variant) | Vasculitis due to ADA2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | SZT2, SZT2-AS1 (K3157E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (splice donor variant) | Arthrogryposis multiplex congenita 3, myogenic type +2 more | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (missense variant) | Netherton syndrome | |
| | | Single nucleotide variant (missense variant) | Fibromatosis, gingival, 1 +1 more | |
| | | Insertion (inframe_indel +1 more) | Blepharophimosis-impaired intellectual development syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Intellectual developmental disorder, autosomal dominant 70 +2 more | |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 5 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Brugada syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Atrial fibrillation, familial, 14 | |
| | LOC102724058, SCN1A (D1726N +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +3 more | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 3 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 49 +1 more | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Amelocerebrohypohidrotic syndrome | |
| | RNF213, RNF213-AS1 (P5097L +1 more) | Single nucleotide variant (missense variant) | Moyamoya disease 2 | |
| | | Single nucleotide variant (synonymous variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Hemophagocytic lymphohistiocytosis, familial, 6 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 64 | |
| | | Single nucleotide variant (intron variant) | Basal cell carcinoma, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1HH +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Insertion (inframe_indel) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Acquired hemoglobin H disease +2 more | |
| | | Insertion (inframe_indel) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial cold autoinflammatory syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Periventricular nodular heterotopia 7 | |