| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4A, autosomal dominant +5 more | |
| | ADAR, LOC126805874 (N831fs +5 more) | Deletion (frameshift variant) | Aicardi-Goutieres syndrome 6 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | ADAR-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Qualitative or quantitative defects of dysferlin +2 more | |
| | | Single nucleotide variant (missense variant) | Visceral myopathy 1 +4 more | |
| | | Single nucleotide variant (missense variant) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +7 more | |
| | | Duplication (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | 3M syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis type 5D +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis type 5D +1 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 29 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | | Indel (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Biotinidase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with severe motor impairment and absent language +2 more | GPathogenic/Likely pathogenic |
| | ATRIP, ATRIP-TREX1
+1 more | Deletion (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | FOXL2-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +17 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hypochondroplasia +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC126859690, PKHD1 (R1624W) | Single nucleotide variant (missense variant) | Autosomal recessive polycystic kidney disease +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Progressive pseudorheumatoid dysplasia +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Baraitser-Winter syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | SBDS-related disorder +11 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cystic fibrosis +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis +2 more | GPathogenic/Likely pathogenic; other |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Bronchiectasis with or without elevated sweat chloride 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CYP11B2, LOC106799834 (R181P) | Single nucleotide variant (missense variant) | Corticosterone methyloxidase type 2 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria, type II +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | COL27A1, LOC126860736 (R1354*) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +13 more | |
| | HBB, LOC106099062
+1 more (E27K) | Single nucleotide variant (missense variant) | Hb SS disease +15 more | |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast | |
| | | Single nucleotide variant (nonsense) | Wiedemann-Steiner syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Triosephosphate isomerase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Epicanthus +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloperipheral dysplasia +14 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Lissencephaly due to TUBA1A mutation +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (nonsense) | Nonsyndromic genetic hearing loss | |
| | | Deletion | Leukodystrophy, hypomyelinating, 14 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Thyroid dyshormonogenesis 6 +1 more | |
| | | Single nucleotide variant (intron variant) | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +11 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Congenital myasthenic syndrome 1A +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Very long chain acyl-CoA dehydrogenase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Choroidal dystrophy, central areolar, 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Immune deficiency, familial variable +21 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (splice donor variant) | Neurofibromatosis-Noonan syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary cancer-predisposing syndrome +2 more | |