| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | DNMT3B-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 4, digenic +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more | |
| | DNMT3B, LOC126863014 (P467L +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | DNMT3B, LOC126863014 (R511C +4 more) | Single nucleotide variant (missense variant) | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more | |
| | DNMT3B, LOC126863014 (R531H +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | DNMT3B, LOC126863014 (R475W +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | DNMT3B, LOC126863014 (G547V +4 more) | Single nucleotide variant (missense variant) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more | |
| | DNMT3B, LOC126863014 (A473T +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Inversion (intron variant) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |