| | LOC126861920, LOC126861921 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056672, LOC130056673 +1071 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132090289, LOC132090290 +24 more | 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 | |
| | | 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) | Inborn genetic diseases +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) | not provided +2 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 (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 (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) | Galactosylceramide beta-galactosidase deficiency | |
| | | 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 condition +1 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 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Inversion (missense variant) | Galactosylceramide beta-galactosidase deficiency | |