| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | RASopathy | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Primary dilated cardiomyopathy | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | TOP2B-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Baller-Gerold syndrome | |
| | | Single nucleotide variant (intron variant) | Neurofibromatosis, type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Familial meningioma | |
| | | Indel (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | GLUT1 deficiency syndrome 1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | PTEN hamartoma tumor syndrome | |
| | | Deletion (intron variant) | Multiple congenital exostosis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXd | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | FG syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (intron variant) | RYR1-Related Disorders | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Hypertrophic cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Malignant hyperthermia, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (splice donor variant) | MHC class I deficiency | |
| | | Single nucleotide variant (intron variant) | EGFR-related lung cancer | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Candidiasis, familial, 9 | |
| | | Single nucleotide variant (intron variant) | RASopathy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Renal cell carcinoma | |
| | | Single nucleotide variant (intron variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (intron variant) | Neuroblastoma, susceptibility to, 3 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | EGFR-related lung cancer | |
| | | Microsatellite (splice donor variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autoimmune interstitial lung disease-arthritis syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice donor variant) | Weaver syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | ERBIN-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Duchenne muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 31 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to IKK2 deficiency | |
| | | Single nucleotide variant (intron variant) | ALPL-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Supravalvar aortic stenosis | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (intron variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Renal cell carcinoma | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Hemochromatosis type 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hermansky-Pudlak syndrome 2 | |