| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | SLC44A1-related condition | |
| | | Single nucleotide variant (missense variant) | SLC44A1-related condition | |
| | | Single nucleotide variant (synonymous variant) | SLC44A1-related condition | |
| | | Single nucleotide variant (synonymous variant) | SLC44A1-related condition | |
| | | Single nucleotide variant (intron variant) | SLC44A1-related condition | |
| | | Single nucleotide variant (synonymous variant) | SLC44A1-related condition | |
| | | Single nucleotide variant (synonymous variant) | SLC44A1-related condition | |
| | | Single nucleotide variant (synonymous variant) | SLC44A1-related condition | |
| | | Single nucleotide variant (synonymous variant) | SLC44A1-related condition | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | Walker-Warburg congenital muscular dystrophy | |
| | LOC126860714, SLC44A1 (R24C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860714, SLC44A1 (P20S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Deletion (frameshift variant) | Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | |
| | | Copy number loss | Distal tetrasomy 15q | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Deletion | Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | |
| | | Deletion (frameshift variant) | Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | |
| | | Deletion (frameshift variant) | Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ANGPTL2, ANKRD18A +771 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860637, LOC126860638 +1188 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130002043, LOC130002044 +1072 more | Copy number gain | See cases | |
| | LOC132089619, LOC132089620 +310 more | Copy number loss | See cases | |
| | LOC130002205, LOC130002206 +417 more | Copy number loss | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |