| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Indel (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (intron variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 13 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | See cases | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 +2 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Deletion (intron variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 13 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Duplication (frameshift variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental disorder | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Neuronal ceroid lipofuscinosis 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis 13 +2 more | |
| | | Indel (frameshift variant) | Neuronal ceroid lipofuscinosis +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis 13 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 13 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis 13 | |