| | | Single nucleotide variant (nonsense +3 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Indel (nonsense +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Indel (nonsense +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion (frameshift variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (nonsense +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion | Galactosylceramide beta-galactosidase deficiency | |
| | | Duplication | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Galactosylceramide beta-galactosidase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (nonsense +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Microsatellite (splice donor variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Galactosylceramide beta-galactosidase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +3 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +3 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Insertion (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +3 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion (frameshift variant +1 more) | Galactosylceramide beta-galactosidase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +3 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Galactosylceramide beta-galactosidase deficiency | |
| | | Single nucleotide variant (synonymous variant +3 more) | Galactosylceramide beta-galactosidase deficiency | |