| | LOC124210612, LOC124210613 +3786 more | Copy number gain | See cases | |
| | LOC121331326, LOC121331327 +3785 more | Copy number gain | See cases | |
| | LOC126860737, LOC126860738 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121197, LOC110121234 +3786 more | Copy number gain | See cases | |
| | LOC121331342, LOC121331343 +3786 more | Copy number gain | See cases | |
| | LOC113839542, LOC113839543 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002189, LOC130002190 +3786 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 | |
| | LOC108281127, LOC113839508 +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 | |
| | LOC130002704, LOC130002705 +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 (5 prime UTR 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 +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts +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 (V9G) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | 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 (missense 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) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |