| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130065345, PANK2 (R94G) | Single nucleotide variant (missense variant +1 more) | Pigmentary pallidal degeneration +1 more | GConflicting classifications of pathogenicity |
| | LOC130065345, PANK2 (E104*) | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration +1 more | GPathogenic/Likely pathogenic |
| | PANK2, LOC130065345 (L111Q) | Single nucleotide variant (5 prime UTR variant +4 more) | not specified +2 more | |
| | LOC130065345, PANK2 (G126A +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | not specified +3 more | |
| | LOC130065345, PANK2 (G127V +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +2 more | |
| | LOC130065345, PANK2 (S169T +1 more) | Indel (5 prime UTR variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene