| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | LOC116268473, LOC116268474 +1244 more | Copy number gain | See cases | |
| | LOC130057943, LOC130057944 +664 more | Copy number gain | See cases | |
| | LOC130057907, LOC130057908 +630 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MIR11181, MIR1179 +517 more | Copy number gain | See cases | |
| | LOC130057997, LOC130057998 +500 more | Copy number gain | See cases | |
| | LOC130057929, LOC130057930 +311 more | Copy number gain | See cases | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia +3 more | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia +4 more | |
| | | Duplication (intron variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (intron variant) | POLG-Related Spectrum Disorders | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial disease | |
| | | Duplication (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Duplication (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Deletion (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Deletion (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Inversion (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | FANCI, POLG (G1249S +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Deletion (stop lost +2 more) | Fanconi anemia complementation group I | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | POLG, FANCI (A1251S +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | FANCI, POLG (G1316R +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia +2 more | |
| | FANCI, POLG (G1316E +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | FANCI, POLG (Q1224* +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | FANCI, POLG (K1226fs +2 more) | Deletion (3 prime UTR variant +1 more) | Fanconi anemia | |
| | FANCI, POLG (A1262V +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | FANCI, POLG (K1231R +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | FANCI, POLG (K1235fs +2 more) | Duplication (3 prime UTR variant +1 more) | Fanconi anemia | |
| | FANCI, POLG (R1266T +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | FANCI, POLG (R1266M +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Duplication (3 prime UTR variant +2 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Duplication (3 prime UTR variant +1 more) | Fanconi anemia | |
| | FANCI, POLG (K1268N +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial disease | |
| | | Single nucleotide variant (3 prime UTR variant) | POLG-Related Spectrum Disorders +1 more | |
| | | Duplication (3 prime UTR variant) | not specified +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive sclerosing poliodystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group I +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | POLG-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group I +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (stop lost +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Deletion (frameshift variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +12 more | |
| | | Single nucleotide variant (nonsense +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Insertion (frameshift variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |