| | | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | DNAJC2, LOC121175357 +11 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Microsatellite (3 prime UTR variant) | Lissencephaly, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Lissencephaly, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (stop lost) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (R3456Q +1 more) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +1 more | |
| | RELN, SLC26A5-AS1 (R3456* +1 more) | Single nucleotide variant (nonsense) | Norman-Roberts syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Norman-Roberts syndrome +1 more | |
| | RELN, SLC26A5-AS1 (R3453Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | RELN, SLC26A5-AS1 (R3453* +1 more) | Single nucleotide variant (nonsense) | Epilepsy, familial temporal lobe, 1 +2 more | GConflicting classifications of pathogenicity |
| | RELN, SLC26A5-AS1 (R3452K +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | RELN, SLC26A5-AS1 (R3451I +1 more) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +1 more | |
| | RELN, SLC26A5-AS1 (N3450S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SLC26A5-AS1, RELN (H3445R +1 more) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (R3439del +1 more) | Deletion (inframe_deletion) | Norman-Roberts syndrome +1 more | |
| | SLC26A5-AS1, RELN (R3441Q +1 more) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +2 more | GConflicting classifications of pathogenicity |
| | RELN, SLC26A5-AS1 (N3436K +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SLC26A5-AS1, RELN (M3437del +1 more) | Microsatellite (inframe_deletion) | Norman-Roberts syndrome +1 more | |
| | RELN, SLC26A5-AS1 (M3437T +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | RELN, SLC26A5-AS1 (M3434V +1 more) | Single nucleotide variant (missense variant) | Intellectual disability +2 more | |
| | SLC26A5-AS1, RELN (Y3435H +1 more) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (Q3431* +1 more) | Single nucleotide variant (nonsense) | Norman-Roberts syndrome | |
| | RELN, SLC26A5-AS1 (R3429H +1 more) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +1 more | |
| | RELN, SLC26A5-AS1 (T3430P +1 more) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Norman-Roberts syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | Norman-Roberts syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Norman-Roberts syndrome +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | RELN-related disorder | |
| | | Single nucleotide variant (intron variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Norman-Roberts syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Norman-Roberts syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Norman-Roberts syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Familial temporal lobe epilepsy 7 +1 more | GConflicting classifications of pathogenicity |
| | RELN, SLC26A5-AS1 (V3426del) | Microsatellite (inframe_deletion) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (V3426I) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Norman-Roberts syndrome +1 more | |
| | RELN, SLC26A5-AS1 (V3425I) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +1 more | |
| | RELN, SLC26A5-AS1 (V3423M) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (A3419S) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +1 more | |
| | RELN, SLC26A5-AS1 (W3418R) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (Q3417H) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +2 more | GConflicting classifications of pathogenicity |
| | RELN, SLC26A5-AS1 (Q3417R) | Single nucleotide variant (missense variant) | not provided | |
| | RELN, SLC26A5-AS1 (D3416E) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (N3411S) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (N3411D) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (R3409H) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +1 more | |
| | RELN, SLC26A5-AS1 (R3409C) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (R3404H) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (R3404C) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +1 more | |
| | RELN, SLC26A5-AS1 (L3403V) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (L3402S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | RELN, SLC26A5-AS1 (R3397Q) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | RELN, SLC26A5-AS1 (R3397W) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Norman-Roberts syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Norman-Roberts syndrome +1 more | |
| | RELN, SLC26A5-AS1 (P3393S) | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial temporal lobe epilepsy 7 +1 more | |