| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 15 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of the nervous system +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 16 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DOORS syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | DOORS syndrome +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal recessive spinocerebellar ataxia 12 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 28 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 28 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 28 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant tumor of esophagus +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 12 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 12 +2 more | |
| | MAF, WWOX (S411del +1 more) | Deletion (inframe_deletion) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 | |