| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121366033, LOC121366034 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003132, LOC130003133 +1210 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130002656, LOC130002657 +93 more | Duplication | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130002653, LOC130002654 +130 more | Deletion | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | LOC130002651, STXBP1 (M1K) | Single nucleotide variant (missense variant +3 more) | Developmental and epileptic encephalopathy, 4 | |
| | LOC130002651, STXBP1 (M1R) | Single nucleotide variant (missense variant +3 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC130002651, STXBP1 (A2V) | Single nucleotide variant (missense variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | LOC130002651, STXBP1 (P3L) | Single nucleotide variant (missense variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC130002651, STXBP1 (I4V) | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 4 | |
| | LOC130002651, STXBP1 (G5C) | Single nucleotide variant (missense variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC130002651, STXBP1 (L6P) | Single nucleotide variant (intron variant +2 more) | not provided | |
| | LOC130002651, STXBP1 (K7E) | Single nucleotide variant (missense variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC130002651, STXBP1 (E12fs) | Duplication (frameshift variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC130002651, STXBP1 (A8G) | Single nucleotide variant (missense variant +2 more) | STXBP1-related neurodevelopmental disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC130002651, STXBP1 (V9fs) | Indel (frameshift variant +2 more) | Developmental and epileptic encephalopathy, 4 | |
| | LOC130002651, STXBP1 (V9I) | Single nucleotide variant (missense variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC130002651, STXBP1 (V10del) | Deletion (inframe_deletion +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC130002651, STXBP1 (V10D) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +2 more | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC130002651, STXBP1 (E12D) | Single nucleotide variant (5 prime UTR variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | | Indel (intron variant +1 more) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (intron variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Developmental and epileptic encephalopathy, 4 | |
| | | Duplication (splice donor variant +1 more) | Developmental and epileptic encephalopathy, 4 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Infantile epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not specified | |
| | | Deletion (intron variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Deletion (inframe_indel) | Epileptic encephalopathy +1 more | |
| | | Microsatellite (inframe_deletion) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Deletion (inframe_deletion) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Duplication (frameshift variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Duplication (frameshift variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Deletion (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |