Types of GLA variants reported in the Human Gene Mutation Database
| GLA variant types | Number | % of total |
| Missense (pathogenic with classic or later-onset phenotypes, or benign with no or unspecific, Fabry disease-unrelated phenotype) | 605 | 61.0 |
| Nonsense (pathogenic with classic phenotype) | 84 | 8.5 |
| Splicing substitutions (pathogenic with classic or later-onset phenotypes) | 49 | 4.9 |
| Frameshift (pathogenic with classic phenotype)* | 253 | 25.5 |
| Small deletions† | 140 | 14.1 |
| Gross deletions | 39 | 3.9 |
| Small insertions/duplications | 43 | 4.3 |
| Gross insertions/duplications | 8 | 0.8 |
| Small indels | 16 | 1.6 |
| Complex rearrangements (including inversions) | 7 | 0.7 |
| Total | 991 | 100.0 |
*Small and gross are arbitrarily defined as 20 or less and more than 20 nucleotides, respectively.
†Some small deletions occur in-frame and do not necessarily lead to premature termination of mRNA translation.