| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | 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 (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Microsatellite (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (splice donor variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Deletion (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (non-coding transcript 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 (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR 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 (intron variant) | 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 (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | POLG, POLGARF (A32T +1 more) | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Duplication (inframe_insertion) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous 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 (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Deletion (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | 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 (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Deletion (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR 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 | |
| | FANCI, POLG +1 more (G1238A) | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | POLG, POLGARF (A170S +1 more) | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Duplication (inframe_insertion) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | POLG, POLGARF (A71V +1 more) | 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 (3 prime UTR 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 (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy | |