| | | Single nucleotide variant (missense variant) | Autosomal dominant cerebellar ataxia, deafness and narcolepsy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | DNMT1-related disorder | |
| | | Single nucleotide variant (intron variant) | DNMT1-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | DNMT1, LOC126862853 (R1450C +3 more) | Single nucleotide variant (missense variant) | Autosomal dominant cerebellar ataxia, deafness and narcolepsy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Deletion | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Deletion | Immunodeficiency 35 | |
| | | Deletion | Familial hypercholesterolemia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | DNMT1-related disorder | |
| | | Single nucleotide variant (missense variant) | DNMT1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Deletion (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Deletion (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Deletion (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory neuropathy-deafness-dementia syndrome | |
| | DNMT1, LOC130063472 (S19P) | Single nucleotide variant (missense variant +1 more) | Hereditary sensory neuropathy-deafness-dementia syndrome | |