| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | DOP1A, PGM3 (N1784S +4 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | DOP1A, PGM3 (I1752V +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DOP1A, PGM3 (E1847K +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DOP1A, PGM3 (T2015N +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DOP1A, PGM3 (P1490T +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DOP1A, PGM3 (R1719Q +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | PGM3-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 23 | |
| | | Duplication (frameshift variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (nonsense +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 23 | |
| | | Deletion (frameshift variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (nonsense +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | DOP1A, PGM3 (Q529* +2 more) | Single nucleotide variant (nonsense +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Deletion (frameshift variant +1 more) | Immunodeficiency 23 | |
| | | Microsatellite (nonsense +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | DOP1A, PGM3 (N441fs +3 more) | Duplication (frameshift variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 23 | |
| | | Microsatellite (frameshift variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Deletion (frameshift variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (nonsense +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (nonsense +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (nonsense +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 23 | |
| | | Deletion (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 23 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 23 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 23 | |
| | | Duplication (frameshift variant +2 more) | Immunodeficiency 23 | |