| | AMPD2, LOC126805822 (G427R +3 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 | |
| | AMPD2, LOC126805822 (Q369E +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | AMPD2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | AMPD2-related disorder | |
| | | 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) | 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 | |
| | AMPD2, LOC126805822 (R475C +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AMPD2, LOC126805822 (T391M +3 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 | |
| | AMPD2, LOC126805822 (R444H +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | AMPD2, LOC126805822 (Q400P +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805822, AMPD2 (V441I +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | AMPD2, LOC126805822 (R428C +4 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | AMPD2, LOC126805822 (S493L +4 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC126805822 (P512S +4 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 (synonymous variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC129931109 (N37Y +2 more) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC126805822 (R438H +4 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC129931109 (A45V) | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (V371A +4 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 (synonymous variant) | Pontocerebellar hypoplasia type 9 +2 more | |
| | | Single nucleotide variant (synonymous 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 (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Deletion (splice acceptor variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC129931109 (F17S +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, LOC126805822 (P482L +4 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 (intron variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC129931109 (L50P) | Single nucleotide variant (synonymous variant +2 more) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (V488M +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 (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (A437V +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | AMPD2, LOC126805822 (R289* +4 more) | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 63 +1 more | GPathogenic/Likely pathogenic |
| | AMPD2, LOC126805822 (W452R +3 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC129931109 (A30V) | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 63 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 9 +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 (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +2 more | |
| | | Single nucleotide variant (synonymous 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 (synonymous variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +1 more | |
| | | Microsatellite (intron variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC126805822 (R444G +3 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC126805822 (N418K +3 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (T337M +3 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +2 more | |
| | AMPD2, LOC129931109 (R47S +1 more) | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC126805822 (T487S +3 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC126805822 (R528H +3 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC126805822 (T408S +3 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (V391M +3 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (P537L +3 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (R371H +3 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC126805822 (S447F +3 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | LOC126805822, AMPD2 (R260W +3 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +2 more | GConflicting classifications of pathogenicity |
| | AMPD2, LOC126805822 (H443N +3 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 9 +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 63 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 63 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC129931109 (A28T) | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia 63 +3 more | |
| | AMPD2, LOC126805822 (S347L +3 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | AMPD2, LOC126805822 (Q336* +3 more) | Single nucleotide variant (nonsense) | Pontocerebellar hypoplasia type 9 | |
| | AMPD2, LOC126805822 (R481C +3 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (I331V +3 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | |
| | AMPD2, LOC126805822 (R385* +3 more) | Single nucleotide variant (nonsense) | Pontoneocerebellar hypoplasia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microcephaly | |