| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 8 | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 3 | |
| | | Single nucleotide variant (missense variant) | Ceroid lipofuscinosis, neuronal, 6A | |
| | | 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 | |
| | | Duplication (frameshift variant) | Neuronal ceroid lipofuscinosis 8 | |
| | | Duplication (frameshift variant) | Neuronal ceroid lipofuscinosis 2 | |
| | | Indel (frameshift variant) | Neuronal ceroid lipofuscinosis 2 | |
| | | Indel (splice donor variant) | Neuronal ceroid lipofuscinosis 2 | |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 7 | |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 8 | |
| | | Single nucleotide variant (missense variant) | Brown-Vialetto-van Laere syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 | |
| | | Single nucleotide variant (splice donor variant) | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | |
| | | Single nucleotide variant | Orofaciodigital syndrome I | |
| | | Single nucleotide variant | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (nonsense) | DNA ligase IV deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | |
| | | Duplication (frameshift variant) | Occipital pachygyria and polymicrogyria | |
| | | Single nucleotide variant (intron variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Neuronal ceroid lipofuscinosis 8 | |
| | | Single nucleotide variant (splice donor variant) | Ataxia-telangiectasia-like disorder 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Wolfram syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Ceroid lipofuscinosis, neuronal, 6A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 3 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Complex cortical dysplasia with other brain malformations 7 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2T | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Tuberous sclerosis 1 | |