| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Frontotemporal dementia | Gno classifications from unflagged records |
| | | Deletion (frameshift variant) | Frontotemporal dementia | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy, hereditary diffuse, with spheroids 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis +4 more | GConflicting classifications of pathogenicity |