| | | Deletion (frameshift variant +1 more) | RH-NULL, AMORPH TYPE | |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Lynch syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary nonpolyposis colorectal neoplasms +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hyperaldosteronism type II +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal dominant pseudohypoaldosteronism type 1 +1 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Duplication (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Familial adenomatous polyposis 1 +2 more | |
| | | Deletion (frameshift variant) | Familial adenomatous polyposis 1 +3 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Familial multiple polyposis syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 +3 more | |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 +1 more | |
| | | Deletion (nonsense) | Familial adenomatous polyposis 1 +2 more | |
| | | Deletion (frameshift variant) | Familial adenomatous polyposis 1 +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 +1 more) | Lynch syndrome | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia | |
| | | Microsatellite (inframe deletion) | Congenital adrenal hyperplasia +1 more | GPathogenic/Likely pathogenic |
| | HBB, LOC106099062
+1 more (S90N) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +2 more | GPathogenic/Likely pathogenic; other |
| | HBB, LOC106099062
+1 more (H78D) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062
+1 more (K67E) | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062
+1 more (T39P) | Single nucleotide variant (missense variant) | HEMOGLOBIN HAZEBROUCK | |
| | 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 | |
| | BDNF, BDNF-AS (V66M +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | ATP7B-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | HEMOGLOBIN J (PARIS 1) +1 more | |
| | HBA1, LOC106804613 (T40del) | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | MC4R-related disorder | |
| | | 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 | |