| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | AMPD2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | AMPD2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | AMPD2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | AMPD2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AMPD2, LOC126805822 (R475C +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe_indel +1 more) | not provided +1 more | |
| | AMPD2, LOC126805822 (T391M +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | AMPD2, LOC126805822 (I359V +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AMPD2, LOC126805822 (A470T +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 63 | |
| | AMPD2, LOC126805822 (R444H +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | AMPD2, LOC126805822 (Q400P +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (V441I +4 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (R428C +4 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (S493L +4 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC126805822 (P512S +4 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Hereditary spastic paraplegia 63 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC129931109 (N37Y +2 more) | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | LOC126805822, AMPD2 (R438H +4 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | LOC129931109, AMPD2 (A45V) | Single nucleotide variant (synonymous variant +2 more) | Pontocerebellar hypoplasia type 9 +1 more | |