| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Lynch syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary nonpolyposis colorectal neoplasms +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +3 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 +4 more | |
| | | Duplication (nonsense) | Familial adenomatous polyposis 1 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Familial adenomatous polyposis 1 +2 more | |
| | | Deletion (frameshift variant) | Familial multiple polyposis syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 +1 more | |
| | | Deletion (frameshift variant) | Familial adenomatous polyposis 1 +2 more | |
| | | Deletion (frameshift variant) | Familial multiple polyposis syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (nonsense) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Deletion (frameshift variant +1 more) | Lynch syndrome | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Hereditary pancreatitis +4 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062
+1 more (A28S) | Single nucleotide variant (missense variant) | beta Thalassemia +4 more | GPathogenic/Likely pathogenic |
| | HBB, LOC106099062
+1 more (H3P) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | ATP7B-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Schizophrenia +2 more | |
| | | Single nucleotide variant (missense variant) | Androgen resistance syndrome | |
| | GLA, RPL36A-HNRNPH2 (L180F +1 more) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |