| | LOC130059149, LOC130059150 +1738 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059618, LOC130059619 +1429 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059185, LOC130059186 +869 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862439, LOC126862440 +1031 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130059708, LOC130059709 +788 more | Copy number gain | See cases | |
| | LINC01081, LINC01082 +781 more | Copy number gain | See cases | |
| | CLEC3A, LINC02131 +24 more | Copy number gain | See cases | |
| | CLEC3A, LOC112486208 +30 more | Copy number gain | See cases | |
| | CLEC3A, LOC112486208 +33 more | Copy number gain | See cases | |
| | CLEC3A, LOC112486208 +26 more | Copy number gain | See cases | |
| | CLEC3A, LOC112486208 +25 more | Copy number gain | See cases | |
| | CLEC3A, LOC110120570 +32 more | Duplication | Developmental and epileptic encephalopathy, 28 | |
| | CLEC3A, LOC110120570 +32 more | Copy number gain | See cases | |
| | CLEC3A, LOC110120570 +35 more | Copy number gain | See cases | |
| | CLEC3A, LOC110120570 +31 more | Copy number gain | See cases | |
| | LOC132090427, LOC132090428 +3 more | Copy number loss | West syndrome | |
| | LOC110120570, LOC112486209 +14 more | Copy number gain | See cases | |
| | LOC110120570, LOC112486209 +14 more | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Copy number loss | Developmental and epileptic encephalopathy, 28 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | WWOX, LOC132090428 +1 more | Deletion | Developmental and epileptic encephalopathy, 28 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Indel (5 prime UTR variant +1 more) | not specified | |
| | | Duplication | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | LOC110120570, LOC112486209 +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) | Autosomal recessive spinocerebellar ataxia 12 +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +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) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 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) | Autosomal recessive spinocerebellar ataxia 12 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (non-coding transcript 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, 28 | |
| | | 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) | not provided | |
| | | 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 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Deletion (5 prime UTR variant +2 more) | Developmental delay | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | GConflicting classifications of pathogenicity |
| | | 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 (synonymous 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 | |
| | | Deletion (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 | 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) | 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) | Inborn genetic diseases | |
| | | 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 +5 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) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Microsatellite (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 +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) | 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 | |
| | | 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) | Abnormality of the nervous system | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Deletion (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 28 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Indel (non-coding transcript variant +1 more) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (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) | Autosomal recessive spinocerebellar ataxia 12 +1 more | |