| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal recessive spinocerebellar ataxia 12 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 28 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 12 +5 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 28 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant tumor of esophagus +4 more | |
| | | Single nucleotide variant (missense variant) | Early Infantile Epileptic Encephalopathy, Autosomal Recessive +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive spinocerebellar ataxia 12 +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 12 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 12 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive spinocerebellar ataxia 12 +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |