| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129931442, SNX27 (G25V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129931442, SNX27 (G20V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129931442, SNX27 (V47I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (P11S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129931442, SNX27 (H15Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129931442, SNX27 (G35S) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (G24R) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (G24R) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | | Insertion (nonsense +1 more) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (V44L) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | | Deletion (inframe_deletion) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (Q60P) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (G19D) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy +1 more | |
| | LOC129931442, SNX27 (G24W) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | SNX27, LOC129931442 (G54S) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy +2 more | |
| | LOC129931442, SNX27 (G18A) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (V44L) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (G37E) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (N17H) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (P14T) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | | Deletion (inframe_deletion) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (P14S) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy +1 more | |
| | LOC129931442, SNX27 (A31V) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (G25W) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (synonymous variant) | Severe myoclonic epilepsy in infancy | |
| | | Microsatellite (inframe_insertion) | Severe myoclonic epilepsy in infancy | |
| | | Microsatellite (inframe_insertion) | Severe myoclonic epilepsy in infancy | |
| | LOC129931442, SNX27 (P14L) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC129931442, SNX27 (G40S) | Single nucleotide variant (missense variant) | Severe myoclonic epilepsy in infancy | |