| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | 20q13.13qter duplication | |
| | LOC130066385, LOC130066386 +553 more | Copy number gain | See cases | |
| | LOC130066289, LOC130066290 +491 more | Copy number gain | See cases | |
| | LOC130066383, LOC130066384 +464 more | Copy number gain | See cases | |
| | LOC130066362, LOC130066363 +355 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | not specified | |
| | LOC130066313, LOC130066314 +183 more | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +249 more | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +248 more | Copy number loss | See cases | |
| | LOC130066412, LOC130066413 +244 more | Copy number loss | See cases | |
| | | Copy number loss | Neurodevelopmental disorder | |
| | ABHD16B, ARFGAP1 +230 more | Copy number loss | See cases | |
| | ARFGAP1, BHLHE23 +102 more | Duplication | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +177 more | Copy number gain | See cases | |
| | ABHD16B, ARFGAP1 +177 more | Copy number loss | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Deletion | Seizure | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (splice donor variant) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 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 (5 prime UTR variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Duplication (5 prime UTR variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | CHRNA4, LOC126863087 (N128del) | Microsatellite (inframe_deletion +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (N127S) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (L125F) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant +2 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) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | | 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 +2 more) | not provided +1 more | |
| | CHRNA4, LOC126863087 (P121L) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (R120W) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy +3 more | GConflicting classifications of pathogenicity |
| | LOC126863087, CHRNA4 (E116D) | 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 +2 more | |
| | CHRNA4, LOC126863087 (P114L) | Single nucleotide variant (5 prime UTR 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 | |
| | CHRNA4, LOC126863087 (R112C) | 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 (T109I) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | CHRNA4, LOC126863087 (T109A) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (D104A) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | GConflicting classifications of pathogenicity |
| | CHRNA4, LOC126863087 (P102L) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (D101N) | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (R99H) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | GConflicting classifications of pathogenicity |
| | LOC126863087, CHRNA4 (R99C) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (D95N) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | CHRNA4-related disorder +1 more | |
| | CHRNA4, LOC126863087 (E92Q) | Single nucleotide variant (missense variant +2 more) | CHRNA4-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 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 (intron variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 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 (non-coding transcript variant +1 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 (non-coding transcript variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | 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) | 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 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (W88*) | Single nucleotide variant (nonsense +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (V87L) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | CHRNA4, LOC126863087 (N86K) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +2 more | |
| | CHRNA4, LOC126863087 (T85M) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (M82T) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy 1 | |
| | CHRNA4, LOC126863087 (N80K) | Single nucleotide variant (missense variant +2 more) | CHRNA4-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | CHRNA4, LOC126863087 (D77N) | 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 (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |