| | LOC130006061, RNASEH2C (C34*) | Single nucleotide variant (nonsense) | RNASEH2C-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | KAT5, RNASEH2C (K346R +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KAT5, RNASEH2C (M436T +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KAT5, RNASEH2C (M375I +3 more) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | RNASEH2C-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | LOC130006061, RNASEH2C (A24V) | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Deletion (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Deletion (intron variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Deletion (frameshift variant) | Aicardi-Goutieres syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 3 | |
| | | Copy number gain | not provided | |
| | | Duplication (frameshift variant) | RNASEH2C-related disorder | |
| | KAT5, RNASEH2C (S456T +3 more) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder | |
| | KAT5, RNASEH2C (E478D +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication (frameshift variant) | not specified | |
| | KAT5, RNASEH2C (D427N +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Aicardi-Goutieres syndrome 3 | |
| | | Duplication | Aicardi-Goutieres syndrome 3 +1 more | |
| | KAT5, RNASEH2C (G382A +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KAT5, RNASEH2C (L437I +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130006061, RNASEH2C (V14I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |