| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | A-GAMMA3'E, ANO9 +388 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130005164, LOC130005165 +332 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CRACR2B, IGF2-AS +917 more | Copy number gain | See cases | |
| | | Deletion | Thalassemia, gamma-delta-beta | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis +2 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 10 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis +4 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 10 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (inframe_insertion) | Severe microlissencephaly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 10 | |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis | |
| | | Microsatellite (frameshift variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |