| | | Single nucleotide variant (splice donor variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Deletion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Duplication (frameshift variant) | Neuronal ceroid lipofuscinosis 5 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (splice donor variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 5 +1 more | GPathogenic/Likely pathogenic |
| | CLN5, LOC130009913 (S42fs) | Duplication (frameshift variant) | Neuronal ceroid lipofuscinosis 5 | |
| | CLN5, LOC130009913 (E12* +1 more) | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 5 | |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Duplication (frameshift variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Duplication (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 | |
| | CLN5, LOC130009913 (W26fs) | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Insertion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Indel (splice acceptor variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | CLN5, LOC130009913 (R15fs) | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 +2 more | |
| | | Deletion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Deletion (nonsense) | Neuronal ceroid lipofuscinosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis +1 more | GConflicting classifications of pathogenicity |
| | CLN5, LOC130009913 (V38fs) | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (5 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 5 +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant | Neuronal ceroid lipofuscinosis | |
| | | Deletion | Neuronal ceroid lipofuscinosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 2D +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Deletion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | | Deletion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 | |
| | CLN5, LOC130009913 (G40fs) | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Duplication (inframe_insertion) | Neuronal ceroid lipofuscinosis 5 | |
| | | Deletion (3 prime UTR variant +1 more) | Neuronal ceroid lipofuscinosis 5 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (splice donor variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Neuronal ceroid lipofuscinosis 5 | |
| | | Deletion (inframe_deletion) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 5 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 5 | |