| | | Single nucleotide variant (nonsense) | Proline dehydrogenase deficiency +2 more | |
| | | Microsatellite (inframe_deletion +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive spinocerebellar ataxia 12 | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of beta-ureidopropionase +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Dilated cardiomyopathy 1G +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hyperthyroidism due to mutations in TSH receptor +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital hypothyroidism +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Olmsted syndrome 1 | |
| | | Deletion (frameshift variant) | Progressive familial heart block type IB +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Congenital stationary night blindness 1C +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Achondrogenesis, type IA | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 28 | |
| | ATRIP, ATRIP-TREX1
+1 more (C99fs +1 more) | Duplication (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +4 more | GConflicting classifications of pathogenicity |
| | ATRIP, ATRIP-TREX1
+1 more (R97H +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Catecholaminergic polymorphic ventricular tachycardia 5 +1 more | GPathogenic/Likely pathogenic |
| | LOC126806104, TPO (P883S +3 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Dilated cardiomyopathy 1T | |
| | | Deletion (frameshift variant +1 more) | Meckel syndrome, type 3 +5 more | GPathogenic/Likely pathogenic |
| | | Insertion (splice acceptor variant) | Joubert syndrome 14 | |
| | | Microsatellite (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | NR1D1, THRA (R417* +1 more) | Single nucleotide variant (nonsense +1 more) | Congenital nongoitrous hypothryoidism 6 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Corneal dystrophy, lattice type 3A +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | TBCEL-TECTA, TECTA (T562M +1 more) | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 12 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Autosomal recessive Kenny-Caffey syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (intron variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (nonsense) | Hereditary spherocytosis type 2 | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 11 | |
| | | Deletion (inframe_deletion) | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | |
| | | Single nucleotide variant (splice donor variant) | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Cystinuria | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cystinuria | |
| | | Single nucleotide variant (synonymous variant) | Hearing impairment +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Neonatal intrahepatic cholestasis due to citrin deficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 25 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hypokalemia-hypomagnesemia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Atrial fibrillation, familial, 14 | |
| | | Single nucleotide variant (nonsense) | Brugada syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Normophosphatemic familial tumoral calcinosis +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Normophosphatemic familial tumoral calcinosis | |
| | | Duplication (splice donor variant) | Diamond-Blackfan anemia 9 | |
| | | Insertion (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Occult macular dystrophy +1 more | |
| | | Deletion (frameshift variant) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant +1 more) | Vesicoureteral reflux 2 | |
| | | Deletion (frameshift variant) | Aicardi-Goutieres syndrome 2 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rh-null, regulator type +2 more | |
| | | Single nucleotide variant (splice donor variant) | Rapadilino syndrome +2 more | |
| | | Deletion (5 prime UTR variant +2 more) | Pontocerebellar hypoplasia type 6 | |
| | | Deletion (frameshift variant +1 more) | Nijmegen breakage syndrome-like disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein C deficiency, autosomal dominant | |
| | | Microsatellite (inframe_deletion) | Thrombophilia due to protein C deficiency, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (splice acceptor variant) | Dystonia 16 | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Deletion (nonsense) | Hypomyelinating leukodystrophy 11 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | PMM2-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bone fragility with contractures, arterial rupture, and deafness | |
| | | Single nucleotide variant (splice acceptor variant) | Platelet-activating factor acetylhydrolase deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase hyperactivity +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 9B +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Pigmented nodular adrenocortical disease, primary, 2 | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | PDE11A, PDE11A-AS1 (S313fs +3 more) | Deletion (frameshift variant) | Pigmented nodular adrenocortical disease, primary, 2 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Thyroid cancer, nonmedullary, 1 | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Meier-Gorlin syndrome 2 | |
| | | Microsatellite (splice acceptor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital adrenal hypoplasia, X-linked +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Nephronophthisis 4 +1 more | |
| | | Single nucleotide variant (nonsense) | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal recessive 46 | |
| | | Single nucleotide variant (nonsense) | Acne inversa, familial, 1 | |