| | | Duplication (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Microsatellite (inframe_deletion +1 more) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Duplication (frameshift variant +1 more) | Neuronal ceroid lipofuscinosis 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |