| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | GOSR2, LOC126862578 +1 more | Microsatellite (intron variant) | not provided | |
| | GOSR2, LOC126862578 +1 more (N85D +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | GOSR2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | GOSR2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | GOSR2-related disorder | |
| | | Microsatellite (intron variant) | Progressive myoclonic epilepsy | |
| | | Deletion (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more (Y74fs +2 more) | Duplication (frameshift variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more (R62fs +2 more) | Deletion (frameshift variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | GOSR2, LOC126862578 +1 more (R100P +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Hearing loss, autosomal recessive | |
| | GOSR2, LOC126862578 +1 more (P59H +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | GOSR2, LRRC37A2 (Q144H +5 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Indel (nonsense +1 more) | not provided | |
| | GOSR2, LRRC37A2 (S110F +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Microsatellite (nonsense +2 more) | Inborn genetic diseases | |
| | GOSR2, LRRC37A2 (I147T +5 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more (R101Q +2 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (H31R +1 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (Q136fs +2 more) | Duplication (frameshift variant +2 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more (Q87* +2 more) | Single nucleotide variant (nonsense +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +3 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (S127Y +2 more) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more (E35K +2 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (V132I +2 more) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more (L53F +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (N146S +2 more) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Microsatellite (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (N109S +2 more) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more (K56E +2 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (S174Y +5 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (L151P +5 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more (I23V +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (I117M +2 more) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (G95R +5 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more (I23R +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GOSR2, LRRC37A2 (M161T +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GOSR2, LRRC37A2 (G118S +2 more) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy +1 more | |
| | GOSR2, LRRC37A2 (R107G +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GOSR2, LRRC37A2 (Q107R +2 more) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Duplication (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Deletion (frameshift variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (R115Q +5 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more (Q100K +2 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy | |
| | LOC126862578, LRRC37A2 +1 more (E77K +2 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | LOC126862578, GOSR2 +1 more (D58H +2 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (R120W +5 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more | Single nucleotide variant (splice acceptor variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LOC126862578 +1 more (R51P +2 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | GOSR2, LRRC37A2 (M19T +1 more) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy | |