| | | Single nucleotide variant (missense variant) | Hereditary motor and sensory neuropathy with optic atrophy +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epileptic spasm +4 more | GPathogenic/Likely pathogenic |
| | ABCA4, LOC126805793 (I1562T +1 more) | Single nucleotide variant (missense variant) | Stargardt disease +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | GBA1, LOC106627981 (R502C +2 more) | Single nucleotide variant (missense variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +9 more | |
| | GBA1, LOC106627981 (E365K +2 more) | Single nucleotide variant (missense variant) | Cogwheel rigidity +13 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +15 more | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +2 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1A +17 more | |
| | | Single nucleotide variant (nonsense) | Emery-Dreifuss muscular dystrophy 3, autosomal recessive +15 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +15 more | |
| | | Single nucleotide variant (missense variant) | not provided +15 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease +17 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cystinuria +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome | |
| | | Microsatellite (frameshift variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Lynch syndrome | |
| | | Duplication (frameshift variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +6 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (R21201* +5 more) | Single nucleotide variant (nonsense) | Early-onset myopathy with fatal cardiomyopathy +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Von Hippel-Lindau syndrome | |
| | LOC107303340, VHL (R167W +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome | |
| | | Single nucleotide variant (intron variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Microsatellite (inframe_indel +2 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Lower limb undergrowth +31 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer +8 more | GConflicting classifications of pathogenicity; association; risk factor |
| | | Microsatellite (frameshift variant) | Familial adenomatous polyposis 1 +1 more | |
| | | Microsatellite (frameshift variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 3 +6 more | GConflicting classifications of pathogenicity |
| | HFE, HFE-AS1 (H63D +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Cardiomyopathy +9 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other |
| | | Single nucleotide variant (nonsense +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome 4 +5 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Hereditary nonpolyposis colorectal neoplasms +6 more | |
| | | Single nucleotide variant (intron variant) | Leukemia, acute lymphocytic, susceptibility to, 2 | |
| | EGFR, EGFR-AS1 (T790M +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | gefitinib response - Efficacy +2 more | |
| | CASD1, SGCE (T238fs +4 more) | Deletion (frameshift variant) | Myoclonic dystonia 11 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pendred syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CFTR-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy | |
| | | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy +1 more | GPathogenic; drug response |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic; other |
| | CFTR, LOC111674475 (S549N) | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy +1 more | GPathogenic; drug response |
| | CFTR, LOC111674475 (R553*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy +1 more | GPathogenic; drug response |
| | CFTR, LOC111674472 (L997F) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (G1069R) | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (R1070W) | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Vascular malformation +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | C9orf72, LOC109504728
+1 more | Microsatellite | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2B +12 more | GPathogenic/Likely pathogenic |
| | ACTA2, ACTA2-AS1 (R258H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant) | Postmenopausal osteoporosis +3 more | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Atrial fibrillation, familial, 3 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital long QT syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Congenital long QT syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiac arrhythmia +8 more | GConflicting classifications of pathogenicity |
| | HBB, LOC107133510
+2 more (E122K +1 more) | Single nucleotide variant (missense variant) | Sickle cell-Hemoglobin O Arab disease | |
| | | Single nucleotide variant (splice donor variant) | Erythrocytosis, familial, 6 +11 more | |
| | HBB, LOC106099062
+1 more (S10fs) | Duplication (frameshift variant) | not provided +11 more | |
| | | Duplication | Primary familial hypertrophic cardiomyopathy +6 more | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +4 more | |
| | BSCL2, HNRNPUL2-BSCL2 (N88S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +8 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (missense variant) | Parkinson disease, late-onset +5 more | GPathogenic/Likely pathogenic; risk factor |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes | |