| | | Single nucleotide variant (missense variant) | Cardiomyopathy, familial restrictive, 6 | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Deletion (frameshift variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +1 more | GPathogenic/Likely pathogenic |
| | | Translocation | Glioma | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 1 | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 1 | |
| | | Translocation | Lung carcinoma | |
| | | Single nucleotide variant (missense variant) | Medullary thyroid carcinoma | |
| | | Microsatellite (frameshift variant +3 more) | Primary ciliary dyskinesia 19 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Pleomorphic xanthoastrocytoma | |
| | | Single nucleotide variant (missense variant) | Acute liver failure +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | See cases +3 more | |