| | | Indel (frameshift variant +3 more) | Lynch syndrome 1 | |
| | | Deletion (frameshift variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Duplication (frameshift variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Microsatellite (frameshift variant +1 more) | Peroxisome biogenesis disorder | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Duplication (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 79 | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Neuronal ceroid lipofuscinosis 2 | |
| | | Deletion (frameshift variant +1 more) | Maturity onset diabetes mellitus in young +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C1 | |
| | | Deletion (frameshift variant +1 more) | Peutz-Jeghers syndrome | |
| | | Deletion (frameshift variant) | Colorectal cancer +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Neurofibromatosis, type 2 | |
| | OFD1, TRAPPC2 (L46fs +1 more) | Microsatellite (frameshift variant) | Spondyloepiphyseal dysplasia tarda, X-linked | |
| | | Deletion (frameshift variant) | Duchenne muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Duchenne muscular dystrophy | |