| | LOC114827827, NPPA
+1 more (L110P) | Single nucleotide variant (missense variant) | Atrial fibrillation, familial, 6 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | RhD category D-VII | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Familial adenomatous polyposis 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary antithrombin deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Lethal multiple pterygium syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic right ventricular dysplasia 5 +1 more | |
| | NPHP3-ACAD11, UBA5 (L110P +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | EZH2-related disorder | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Lethal congenital glycogen storage disease of heart | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary pulmonary alveolar proteinosis | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | HBB, LOC107133510
+1 more (L111P) | Single nucleotide variant (missense variant) | Hb SS disease +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | LOC130055992, TTC9 (L110P) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | CTF1, LOC130058878 (L110P +1 more) | Single nucleotide variant (missense variant +1 more) | Dilated Cardiomyopathy, Dominant | |
| | | Single nucleotide variant (missense variant) | Adenine phosphoribosyltransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |