| | | Indel (nonsense +2 more) | Lynch syndrome 1 | |
| | | Deletion (frameshift variant +1 more) | Lynch syndrome 1 | |
| | | Deletion (frameshift variant) | PULMONARY ALVEOLAR MICROLITHIASIS | |
| | | Single nucleotide variant (splice donor variant +1 more) | Familial cancer of breast | |
| | | Deletion (splice acceptor variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 2B, generalized intermediate | |
| | | Single nucleotide variant (splice donor variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum | |
| | | Deletion (frameshift variant +1 more) | Familial hypokalemia-hypomagnesemia +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 7 | |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial neonatal, 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more | GPathogenic/Likely pathogenic |