| | | Single nucleotide variant (missense variant) | PIK3CD-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | methotrexate response - Toxicity | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Familial adenomatous polyposis 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial colorectal cancer +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormality of the musculature +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Medium-chain acyl-coenzyme A dehydrogenase deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +12 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (missense variant) | ABCA4-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | ADAR-related disorder +5 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (R502C +2 more) | Single nucleotide variant (missense variant) | not specified +9 more | |
| | | Single nucleotide variant (missense variant) | Pyruvate kinase deficiency of red cells +1 more | |
| | | Single nucleotide variant (missense variant) | RASopathy +7 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +20 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial partial lipodystrophy, Dunnigan type +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +15 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +15 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | hormonal contraceptives for systemic use response - Toxicity | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiomyopathy, familial restrictive, 3 +3 more | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +22 more | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy, hypomyelinating, 18 | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Renal tubular dysgenesis +1 more | |
| | | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Lynch syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lynch syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Lactase persistence | |
| | | Single nucleotide variant (splice donor variant) | Nemaline myopathy 2 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Generalized epilepsy with febrile seizures plus, type 2 | |
| | TTN, TTN-AS1 (R31056* +5 more) | Single nucleotide variant (nonsense) | Early-onset myopathy with fatal cardiomyopathy +9 more | GPathogenic/Likely pathogenic |
| | TTN, TTN-AS1 (R21201* +5 more) | Single nucleotide variant (nonsense) | Early-onset myopathy with fatal cardiomyopathy +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1G +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Indel (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SATB2 associated disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 14 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Breast and/or ovarian cancer +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypohidrotic ectodermal dysplasia +7 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Crigler-Najjar syndrome, type II +4 more | GConflicting classifications of pathogenicity; drug response; other |
| | UGT1A, UGT1A1
+8 more (G71R) | Single nucleotide variant (missense variant +1 more) | Crigler-Najjar syndrome, type II +5 more | GConflicting classifications of pathogenicity; drug response |
| | | Copy number loss | not provided | |
| | LOC107303340, VHL (L188V +1 more) | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary nonpolyposis colorectal neoplasms +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Lynch syndrome | |
| | | Deletion (frameshift variant) | Lynch syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Ventricular fibrillation, paroxysmal familial, type 1 +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GPathogenic/Likely pathogenic; risk factor |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Thanatophoric dysplasia type 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Thanatophoric dysplasia type 1 +3 more | |
| | | Single nucleotide variant (nonsense) | Wolfram-like syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Wolfram syndrome 1 +6 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | WFS1-related disorder +6 more | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ANK2, LOC126807137 (R2506Q +4 more) | Single nucleotide variant (missense variant +1 more) | Long QT syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Long QT syndrome | |
| | | Microsatellite (inframe_deletion) | Bardet-Biedl syndrome 12 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1GG +4 more | |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases | |
| | | Duplication (splice acceptor variant) | Sandhoff disease +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +2 more | |