| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | FGFR3-related disorder +17 more | |
| | | Single nucleotide variant (nonsense +1 more) | Familial adenomatous polyposis 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Familial adenomatous polyposis 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Microsatellite (frameshift variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (frameshift variant) | Familial adenomatous polyposis 1 +2 more | |
| | | Microsatellite (frameshift variant) | Familial adenomatous polyposis 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Duplication (frameshift variant) | Pendred syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Wilson disease +3 more | |
| | | Single nucleotide variant (missense variant) | Wilson disease +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | ATP7B-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | not provided | |
| | | Deletion (inframe_deletion) | not specified | |