| | | Single nucleotide variant (intron variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (intron variant) | Spermatogenic failure 29 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Complex cortical dysplasia with other brain malformations 3 | |
| | | Single nucleotide variant (intron variant) | Psoriatic arthritis, susceptibility to +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (splice donor variant) | Cardiomyopathy +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant | Asthma, aspirin-induced, susceptibility to | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant +1 more) | Huntington disease-like 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Kuru, susceptibility to +6 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Becker muscular dystrophy | |