| | | Single nucleotide variant (missense variant) | Singleton-Merten syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 95 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 95 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Singleton-Merten syndrome 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Singleton-Merten syndrome 1 +1 more | |
| | | Single nucleotide variant (nonsense) | IFIH1-related immunodeficiency +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Singleton-Merten syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 7 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Singleton-Merten syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 7 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Singleton-Merten syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Singleton-Merten syndrome 1 +2 more | |