| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (P114L) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (G7E) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (R25H) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (R10L) | Indel (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (R10G) | Indel (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (R99C) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (G7R) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (P9S) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (P13L) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (R112H) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (N127S) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (N80K) | Single nucleotide variant (missense variant +2 more) | CHRNA4-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Duplication (inframe_insertion +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (N128del) | Microsatellite (inframe_deletion +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (T109A) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | CHRNA4, LOC126863087 (V87L) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (W88*) | Single nucleotide variant (nonsense +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (E116D) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (L3Q) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (E2Q) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (R10G) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Duplication (5 prime UTR variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Microsatellite (inframe_insertion +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (M1L) | Single nucleotide variant (missense variant +3 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (G5fs) | Deletion (frameshift variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (M1T) | Single nucleotide variant (missense variant +3 more) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | |
| | | Deletion (inframe_deletion +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | 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) | not provided | |
| | | 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) | not provided | |
| | CHRNA4, LOC126863087 (N86K) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | CHRNA4, LOC100130587 (L3R) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CHRNA4, LOC100130587 (P6A) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (R25C) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (I123V) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC100130587 (G5V) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (R112C) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (P102L) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |