| | | Single nucleotide variant (intron variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 19 +12 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Fanconi renotubular syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia-hypogonadism syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Neuronal ceroid lipofuscinosis 8 | |
| | | Single nucleotide variant (nonsense) | 3-methylglutaconic aciduria type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | |
| | LOC130008343, LOC130008344
+1 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Hearing loss +1 more | |
| | | Single nucleotide variant (splice donor variant) | Palmoplantar keratoderma, punctate type 1A | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Palmoplantar keratoderma, punctate type 1A | |
| | | Single nucleotide variant (intron variant) | Palmoplantar keratoderma, punctate type 1A +1 more | |
| | | Single nucleotide variant (intron variant) | Palmoplantar keratoderma, punctate type 1A +1 more | |
| | | Single nucleotide variant (intron variant) | Palmoplantar keratoderma, punctate type 1A +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (splice donor variant) | Palmoplantar keratoderma, punctate type 1A | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Palmoplantar keratoderma, punctate type 1A +1 more | |
| | | Single nucleotide variant (nonsense) | Palmoplantar keratoderma, punctate type 1A +1 more | |
| | | Microsatellite (frameshift variant) | Palmoplantar keratoderma, punctate type 1A | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Deletion (5 prime UTR variant +1 more) | Palmoplantar keratoderma, punctate type 1A | |
| | AAGAB, LOC130057363 (Q21*) | Single nucleotide variant (5 prime UTR variant +2 more) | Palmoplantar keratoderma, punctate type 1A +1 more | |
| | AAGAB, LOC130057363 (T11fs) | Indel (5 prime UTR variant +2 more) | Palmoplantar keratoderma, punctate type 1A | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | GLA, RPL36A-HNRNPH2 (D313Y +1 more) | Single nucleotide variant (missense variant +2 more) | Fabry disease +6 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |