| | | Duplication | not provided | |
| | | Deletion | Inosine triphosphatase deficiency | |
| | | Duplication | Pigmentary pallidal degeneration | |
| | | Deletion | Pigmentary pallidal degeneration | |
| | | Deletion | Pigmentary pallidal degeneration | |
| | | Deletion | Pigmentary pallidal degeneration | |
| | | Duplication (frameshift variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130065345, PANK2 (K97T +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | LOC130065345, PANK2 (S85P +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | LOC130065345, PANK2 (R48P +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | LOC130065345, PANK2 (G126R +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | LOC130065345, PANK2 (G112A +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | LOC130065345, PANK2 (T110A) | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | LOC130065345, PANK2 (E103Q) | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PANK2-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | PANK2-related disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Deletion (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Deletion (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Insertion (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (missense variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (missense variant +2 more) | Pigmentary pallidal degeneration | |
| | | Microsatellite (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Deletion (5 prime UTR variant +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Deletion (frameshift variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | LOC130065345, PANK2 (G126V +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Deletion (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Duplication (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration | |
| | | Duplication (frameshift variant +1 more) | Pigmentary pallidal degeneration | |