| | LINC01780, LINC02868 +563 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | AP4B1, AP4B1-AS1 (I569M +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (I734V +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1-AS1, AP4B1 (S722T +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AP4B1, AP4B1-AS1 (N721S +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (T620M +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (T618M +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 +1 more | |
| | AP4B1, AP4B1-AS1 (I540fs +2 more) | Deletion (frameshift variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (K543Q +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (E532V +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | AP4B1, AP4B1-AS1 (T527P +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (L694F +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (F693L +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AP4B1, AP4B1-AS1 (T521I +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (W679G +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1, AP4B1-AS1 (R509Q +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (A506S +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (M671I +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AP4B1, AP4B1-AS1 (M671V +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 +1 more | |
| | AP4B1, AP4B1-AS1 (L562I +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (E483K +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AP4B1, AP4B1-AS1 (R550W +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AP4B1, AP4B1-AS1 (P479A +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +1 more | |
| | AP4B1, AP4B1-AS1 (Q644R +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (Q545E +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (A542D +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AP4B1, AP4B1-AS1 (A473V +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (V472G +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +1 more | |
| | AP4B1, AP4B1-AS1 (V472F +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | AP4B1, AP4B1-AS1 (T634S +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (E632Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1, AP4B1-AS1 (R624H +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AP4B1, AP4B1-AS1 (R525C +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (R525G +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (N455S +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +1 more | |
| | AP4B1, AP4B1-AS1 (P454L +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (L620P +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +2 more | |
| | AP4B1, AP4B1-AS1 (S615A +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (R608K +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (E607Q +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | | Single nucleotide variant (splice acceptor variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 47 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (A428T +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (S592A +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AP4B1, AP4B1-AS1 (R415H +2 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | AP4B1, AP4B1-AS1 (R415C +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (E582K +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (G481V +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 +3 more | |
| | AP4B1, AP4B1-AS1 (I407S +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (I575V +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +4 more | |
| | AP4B1, AP4B1-AS1 (T574P +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AP4B1, AP4B1-AS1 (A570T +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (G568D +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +1 more | |
| | AP4B1, AP4B1-AS1 (V398A +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (V398L +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | AP4B1-related disorder | |
| | AP4B1, AP4B1-AS1 (F392C +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (N386Y +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (P384fs +2 more) | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (P548L +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | AP4B1, AP4B1-AS1 (P380T +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (L377S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (L544F +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AP4B1, AP4B1-AS1 (L443F +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AP4B1, AP4B1-AS1 (S370fs +2 more) | Deletion (frameshift variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (K369fs +2 more) | Insertion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | AP4B1, AP4B1-AS1 (S367I +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (R363W +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +1 more | |
| | AP4B1, AP4B1-AS1 (K362E +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (V430I +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (I427V +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +1 more | |
| | AP4B1, AP4B1-AS1 (V356A +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (R520H +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +1 more | |
| | AP4B1, AP4B1-AS1 (R520C +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +1 more | GConflicting classifications of pathogenicity |