| | LOC132090428, LOC132090429 +1 more | Duplication | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Duplication | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | LOC132090428, LOC110120570 +12 more | Duplication | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Duplication | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Deletion (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Indel (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant +1 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Duplication (intron variant) | not provided +3 more | |
| | | Duplication (intron variant) | Developmental and epileptic encephalopathy, 28 +3 more | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Duplication (intron variant) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Duplication (frameshift variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +2 more | |
| | | Microsatellite (inframe_deletion +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Developmental and epileptic encephalopathy, 28 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |