| | PTPRA, VPS16 (Y494* +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | PTPRA, VPS16 (R687W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PTPRA, VPS16 (T818M +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Duplication | not provided | |
| | PTPRA, VPS16 (C619R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PTPRA, VPS16 (A690E +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PTPRA, VPS16 (R661Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PTPRA, VPS16 (D685V +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | PTPRA, VPS16 (R538C +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | PTPRA, VPS16 (R499H +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | PTPRA, VPS16 (S401L +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126862954, PTPRA (I464V +12 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PTPRA, VPS16 (R534L +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | PTPRA, VPS16 (R461Q +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | PTPRA, VPS16 (E396K +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | VPS16-related disorder | |
| | PTPRA, VPS16 (A657P +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PTPRA, VPS16 (R531Q +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | Renal agenesis | |
| | PTPRA, VPS16 (W584R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PTPRA, VPS16 (E567K +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC126862954, PTPRA (I463V +12 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PTPRA, VPS16 (A591T +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | PTPRA, VPS16 (M448fs +1 more) | Duplication (5 prime UTR variant +1 more) | not provided | |
| | PTPRA, VPS16 (A456fs +1 more) | Deletion (5 prime UTR variant +1 more) | not provided | |
| | PTPRA, VPS16 (L561V +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | See cases | |
| | | Duplication | Pigmentary pallidal degeneration +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | PTPRA, VPS16 (R537Q +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | VPS16, PTPRA (R537P +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | PTPRA, VPS16 (R567H +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PTPRA, VPS16 (R661W +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | PTPRA, VPS16 (K609M +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PTPRA, VPS16 (G569R +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | PTPRA, VPS16 (R544C +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | PTPRA, VPS16 (R681W +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | PTPRA, VPS16 (L696P +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | PTPRA, VPS16 (R711C +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | PTPRA, VPS16 (M411V +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC126862954, PTPRA (I303V +12 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | VPS16, PTPRA (N519fs +1 more) | Insertion (5 prime UTR variant +1 more) | Dystonia 30 | |
| | PTPRA, VPS16 (E470K +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | Dystonia 30 | |
| | PTPRA, VPS16 (L507R +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | VPS16, PTPRA (R503* +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | PTPRA, VPS16 (R491* +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Dystonia 30 +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |