| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003073, LOC130003074 +1268 more | Copy number gain | See cases | |
| | LOC130002603, LOC130002604 +1210 more | Copy number gain | See cases | |
| | MIR3621, MIR3689A +789 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112637025, LOC112639999 +656 more | Copy number gain | See cases | |
| | LOC130003086, LOC130003087 +530 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003003, LOC130003004 +417 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003068, LOC130003069 +392 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | KCNT1, LOC130002976 +1 more | Insertion (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Duplication | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 14 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Duplication (frameshift variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Deletion (frameshift variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | KCNT1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Deletion (inframe_deletion) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Indel (inframe_indel) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |