| | | Single nucleotide variant (missense variant +2 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Duplication (frameshift variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Deletion (frameshift variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Deletion (frameshift variant +2 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial temporal lobe, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Epilepsy, familial temporal lobe, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Norman-Roberts syndrome +2 more | |
| | | Deletion (frameshift variant +2 more) | Genitopatellar syndrome +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (nonsense +2 more) | Epilepsy, familial temporal lobe, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Familial temporal lobe epilepsy 7 +3 more | |
| | | Deletion (intron variant) | Epilepsy, familial temporal lobe, 1 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial temporal lobe, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Epilepsy, familial temporal lobe, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, familial temporal lobe, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial temporal lobe, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant epilepsy with auditory features +2 more | |
| | RELN, SLC26A5-AS1 (S2932Y) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epilepsy, familial temporal lobe, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epilepsy, familial temporal lobe, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Epilepsy, familial temporal lobe, 1 +2 more | |
| | RELN, SLC26A5-AS1 (R2738Q) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +2 more | GConflicting classifications of pathogenicity |
| | RELN, SLC26A5-AS1 (P2875L) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion | Autosomal dominant epilepsy with auditory features +1 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, familial temporal lobe, 1 | |
| | | Deletion (nonsense) | Epilepsy, familial temporal lobe, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | Autosomal dominant epilepsy with auditory features +2 more | GPathogenic/Likely pathogenic |
| | RELN, SLC26A5-AS1 (T3342M) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +3 more | GConflicting classifications of pathogenicity |
| | RELN, SLC26A5-AS1 (R3453* +1 more) | Single nucleotide variant (nonsense) | Norman-Roberts syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant epilepsy with auditory features +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial temporal lobe, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Norman-Roberts syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | LOC126860131, RELN (E446Q) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +2 more | GConflicting classifications of pathogenicity |
| | RELN, SLC26A5-AS1 (R2738W) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epilepsy, familial temporal lobe, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epilepsy, familial temporal lobe, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial temporal lobe, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autism +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant epilepsy with auditory features +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial temporal lobe, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +3 more | GConflicting classifications of pathogenicity |
| | LOC126860130, RELN +1 more (H3175P) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +4 more | |
| | SLC26A5-AS1, RELN (R3441Q +1 more) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Epilepsy, familial temporal lobe, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant epilepsy with auditory features +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant epilepsy with auditory features +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Seizure +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Epilepsy, familial temporal lobe, 1 | |