| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | 20q13.13qter duplication | |
| | LOC130066240, LOC130066241 +553 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066376, LOC130066377 +464 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | not specified | |
| | | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +249 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +244 more | Copy number loss | See cases | |
| | | Copy number loss | Neurodevelopmental disorder | |
| | ABHD16B, ARFGAP1 +230 more | Copy number loss | See cases | |
| | LOC130066361, LOC130066362 +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 (3 prime UTR variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense 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 (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | CHRNA4-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | 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 (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) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | 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 | |
| | | Single nucleotide variant (splice donor variant) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Microsatellite (frameshift variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHRNA4-related disorder | |