| | ENTPD1, ENTPD1-AS1 (Y149F +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ENTPD1, ENTPD1-AS1 (Y202fs +5 more) | Deletion (frameshift variant) | ENTPD1-related disorder | |
| | ENTPD1, ENTPD1-AS1 (Q191R +4 more) | Single nucleotide variant (missense variant) | ENTPD1-related disorder | |
| | ENTPD1-AS1, ENTPD1 (I355T +5 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ENTPD1, ENTPD1-AS1 (E153fs +4 more) | Deletion (frameshift variant) | Hereditary spastic paraplegia 64 | |
| | ENTPD1, ENTPD1-AS1 (V151M +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ENTPD1, ENTPD1-AS1 (I506K +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ENTPD1, ENTPD1-AS1 (Q206R +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (P230T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (F1271L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ENTPD1-AS1, CC2D2B (Y266D +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CC2D2B, LOC126861005 +1 more (F322C +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | CC2D2B, ENTPD1-AS1 (T1158K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (T341M +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 +1 more (R293Q +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | CC2D2B, ENTPD1-AS1 +1 more (R309P +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | CC2D2B, ENTPD1-AS1 +1 more (Q1339R +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ENTPD1, ENTPD1-AS1 (Q254* +5 more) | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 64 | |
| | ENTPD1, ENTPD1-AS1 (K269R +5 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CCNJ, ENTPD1-AS1 (S295L +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCNJ, ENTPD1-AS1 (N239I +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (I265T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CC2D2B, ENTPD1-AS1 (Q197K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (V1216A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (G16V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (I1179T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (I139V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ENTPD1, ENTPD1-AS1 (S156R +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ENTPD1, ENTPD1-AS1 (A76T +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ENTPD1, ENTPD1-AS1 (I447T +5 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ENTPD1, ENTPD1-AS1 (T161I +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 64 | |
| | ENTPD1, ENTPD1-AS1 (K15E +2 more) | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 64 | |
| | ENTPD1, ENTPD1-AS1 (Y287* +4 more) | Single nucleotide variant (nonsense +1 more) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (synonymous variant) | EBV-positive nodal T- and NK-cell lymphoma | |
| | ENTPD1, ENTPD1-AS1 (W179* +4 more) | Single nucleotide variant (nonsense) | not provided | |
| | ENTPD1, ENTPD1-AS1 (Q328* +5 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CC2D2B, ENTPD1-AS1 (M273L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CC2D2B, ENTPD1-AS1 (V1216I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (I224S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ENTPD1, ENTPD1-AS1 (C297F +5 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CC2D2B, ENTPD1-AS1 (P1229R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (L165P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ENTPD1, ENTPD1-AS1 (E52A +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CCNJ, ENTPD1-AS1 (R270W +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (R1101Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (Y1429C +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (N1422S +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCNJ, ENTPD1-AS1 (L328P +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ENTPD1, ENTPD1-AS1 (A144E +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ENTPD1, ENTPD1-AS1 (E202K +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CCNJ, ENTPD1-AS1 (R229C +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCNJ, ENTPD1-AS1 (F320L +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ENTPD1, ENTPD1-AS1 (G108fs +4 more) | Deletion (frameshift variant) | Hereditary spastic paraplegia 64 | |
| | ENTPD1, ENTPD1-AS1 (L370* +5 more) | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 64 | |
| | ENTPD1, ENTPD1-AS1 (Y49C +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | CCNJ, ENTPD1-AS1 (R206H +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | C10orf131, CC2D2B +1 more (E137D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCNJ, ENTPD1-AS1 (Q257P +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ENTPD1, ENTPD1-AS1 (Q276R +5 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CC2D2B, ENTPD1-AS1 (G128A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ENTPD1, ENTPD1-AS1 (A243S +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ENTPD1, ENTPD1-AS1 (K10T +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | CC2D2B, ENTPD1-AS1 (S39P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (I109F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ENTPD1, ENTPD1-AS1 (G22C +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ENTPD1, ENTPD1-AS1 (G102R +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ENTPD1, ENTPD1-AS1 (V110I +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CCNJ, ENTPD1-AS1 (A232V +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CC2D2B, ENTPD1-AS1 (T170M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCNJ, ENTPD1-AS1 (S335N +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ENTPD1, ENTPD1-AS1 (T111I +4 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 64 | |
| | ENTPD1, ENTPD1-AS1 (I162V +4 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 64 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 64 | |
| | ENTPD1, ENTPD1-AS1 (E32A +4 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 64 | |