| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +13 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 19/22 +1 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 19/22 +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 19/22 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 19/22 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 19/22 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 19/22 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Spinocerebellar ataxia type 19/22 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brugada syndrome 9 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | Brugada syndrome 9 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Brugada syndrome | |
| | | Single nucleotide variant (synonymous variant) | Spinocerebellar ataxia type 19/22 +3 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 19/22 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spinocerebellar ataxia type 19/22 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Spinocerebellar ataxia type 19/22 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | 3 beta-Hydroxysteroid dehydrogenase deficiency | |
| | | Deletion (frameshift variant +2 more) | Sick sinus syndrome | |
| | | Microsatellite (frameshift variant) | Charcot-Marie-Tooth disease type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal semi-dominant severe lipodystrophic laminopathy +24 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | hormonal contraceptives for systemic use response - Toxicity | |
| | | Single nucleotide variant (missense variant) | Hereditary antithrombin deficiency | |
| | | Single nucleotide variant (missense variant) | Van der Woude syndrome 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Deletion | Van der Woude syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Duplication (3 prime UTR variant) | Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Deletion (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Insertion (3 prime UTR variant) | Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Duplication (3 prime UTR variant) | Van der Woude syndrome 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Orofacial cleft 6, susceptibility to +1 more | |
| | | Insertion (3 prime UTR variant) | Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Van der Woude syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 6, susceptibility to +3 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial cleft 6, susceptibility to +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Deletion (frameshift variant) | Orofacial cleft 6, susceptibility to +2 more | |