| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132090296, LOC132090297 +1422 more | Copy number gain | See cases | |
| | LOC130056647, LOC130056648 +1203 more | Copy number gain | See cases | |
| | LOC130056481, LOC130056482 +1072 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion | Epilepsy syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion | Normal pregnancy | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (stop lost +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (stop lost) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Galactosylceramide beta-galactosidase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion (frameshift variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Microsatellite (frameshift variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Galactosylceramide beta-galactosidase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion (frameshift variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (nonsense) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion (frameshift variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (nonsense) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | GALC-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |