Fabry disease: genes and variants
Fabry disease is linked to 1 analyzed protein (GLA). 320 DNA variants are known to cause it; 261 more are uncertain, and 24 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Fabry disease
GLA: Alpha-galactosidase A
It removes terminal alpha-galactose residues from glycosphingolipids during lysosomal degradation. Loss-of-function variants cause Fabry disease, with progressive accumulation of globotriaosylceramide-related lipids in vascular, renal, cardiac, and nervous tissues.
320 disease-causing and 261 uncertain variants in GLA are linked to Fabry disease.
Known disease-causing variants in Fabry disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GLA E66G | 66 | Disease-causing (★★) | |
| GLA G183D | 183 | Disease-causing (★★) | |
| GLA M187T | 187 | Disease-causing (★★) | |
| GLA C202R | 202 | Disease-causing (★★) | |
| GLA Y207C | 207 | Disease-causing (★★) | |
| GLA W236R | 236 | Disease-causing (★★) | |
| GLA D266V | 266 | Disease-causing (★★) | |
| GLA Q279E | 279 | Disease-causing (★★) | |
| GLA S297Y | 297 | Disease-causing (★★) | |
| GLA R301G | 301 | Disease-causing (★★) | |
| GLA I317T | 317 | Disease-causing (★★) | |
| GLA A37P | 37 | Disease-causing (★★) | |
| GLA A37T | 37 | Disease-causing (★★) | |
| GLA P40L | 40 | Disease-causing (★★) | |
| GLA P40S | 40 | Disease-causing (★★) | |
| GLA M42I | 42 | Disease-causing (★★) | |
| GLA G43R | 43 | Disease-causing (★★) | |
| GLA G43S | 43 | Disease-causing (★★) | |
| GLA G43V | 43 | Disease-causing (★★) | |
| GLA H46P | 46 | Disease-causing (★★) | |
| GLA C52S | 52 | Disease-causing (★★) | |
| GLA C52G | 52 | Disease-causing (★★) | |
| GLA C52R | 52 | Disease-causing (★★) | |
| GLA C56Y | 56 | Disease-causing (★★) | |
| GLA L89R | 89 | Disease-causing (★★) | |
| GLA I91T | 91 | Disease-causing (★★) | |
| GLA D92H | 92 | Disease-causing (★★) | |
| GLA D92N | 92 | Disease-causing (★★) | |
| GLA D92Y | 92 | Disease-causing (★★) | |
| GLA D92G | 92 | Disease-causing (★★) | |
| GLA D93N | 93 | Disease-causing (★★) | |
| GLA C94F | 94 | Disease-causing (★★) | |
| GLA C94S | 94 | Disease-causing (★★) | |
| GLA R112H | 112 | Disease-causing (★★) | |
| GLA F113S | 113 | Disease-causing (★★) | |
| GLA F113L | 113 | Disease-causing (★★) | |
| GLA A121P | 121 | Disease-causing (★★) | |
| GLA G138E | 138 | Disease-causing (★★) | |
| GLA G138R | 138 | Disease-causing (★★) | |
| GLA C142R | 142 | Disease-causing (★★) | |
| GLA S148R | 148 | Disease-causing (★★) | |
| GLA S148N | 148 | Disease-causing (★★) | |
| GLA D155E | 155 | Disease-causing (★★) | |
| GLA W162R | 162 | Disease-causing (★★) | |
| GLA L167P | 167 | Disease-causing (★★) | |
| GLA C172Y | 172 | Disease-causing (★★) | |
| GLA M187V | 187 | Disease-causing (★★) | |
| GLA C202W | 202 | Disease-causing (★★) | |
| GLA C202Y | 202 | Disease-causing (★★) | |
| GLA I219T | 219 | Disease-causing (★★) | |
| GLA C223Y | 223 | Disease-causing (★★) | |
| GLA C223R | 223 | Disease-causing (★★) | |
| GLA N224D | 224 | Disease-causing (★★) | |
| GLA N224S | 224 | Disease-causing (★★) | |
| GLA N224T | 224 | Disease-causing (★★) | |
| GLA R227P | 227 | Disease-causing (★★) | |
| GLA R227Q | 227 | Disease-causing (★★) | |
| GLA W236C | 236 | Disease-causing (★★) | |
| GLA G260R | 260 | Disease-causing (★★) | |
| GLA D264V | 264 | Disease-causing (★★) |
Showing 60 of 320.
Uncertain variants in Fabry disease that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| GLA A288D | 288 | Conflicting reports (★) | +7: 7 other pathogenic changes within 3 positions; A288P at the same position is pathogenic; seen in 0 of gnomAD DNA copies; REVEL 0.969 | |
| GLA P205A | 205 | Conflicting reports (★) | +7: 8 other pathogenic changes within 3 positions; P205L at the same position is pathogenic; seen in 9e-06 of gnomAD DNA copies; REVEL 0.901 | |
| GLA M290I | 290 | Conflicting reports (★) | +7: 10 other pathogenic changes within 3 positions; M290T at the same position is pathogenic; seen in 2.7e-06 of gnomAD DNA copies; REVEL 0.884 | |
| GLA D264N | 264 | Uncertain (★★) | +7: 15 other pathogenic changes within 3 positions; D264V at the same position is pathogenic; seen in 3.7e-06 of gnomAD DNA copies; REVEL 0.932 | |
| GLA G144D | 144 | Uncertain (★★) | +7: 6 other pathogenic changes within 3 positions; G144V at the same position is pathogenic; seen in 1.8e-06 of gnomAD DNA copies; REVEL 0.929 | |
| GLA S201A | 201 | Uncertain (★★) | +7: 6 other pathogenic changes within 3 positions; S201F at the same position is pathogenic; seen in 3.7e-06 of gnomAD DNA copies; REVEL 0.939 | |
| GLA T39M | 39 | Uncertain (★★) | +7: 8 other pathogenic changes within 3 positions; T39R at the same position is pathogenic; seen in 8.9e-06 of gnomAD DNA copies; REVEL 0.869 | |
| GLA S297C | 297 | Conflicting reports (★) | +6: 12 other pathogenic changes within 3 positions; S297F at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.98 | |
| GLA D266A | 266 | Conflicting reports (★) | +6: 13 other pathogenic changes within 3 positions; D266N at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.97 | |
| GLA A292T | 292 | Conflicting reports (★) | +6: 8 other pathogenic changes within 3 positions; A292P at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.96 | |
| GLA F159C | 159 | Conflicting reports (★) | +6: 6 other pathogenic changes within 3 positions; F159S at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.94 | |
| GLA C56F | 56 | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; C56Y at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.84 | |
| GLA L415R | 415 | Conflicting reports (★) | +6: 4 other pathogenic changes within 3 positions; L415P at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.95 | |
| GLA D266H | 266 | Conflicting reports (★) | +6: 13 other pathogenic changes within 3 positions; D266N at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.83 | |
| GLA C63R | 63 | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; C63Y at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.92 | |
| GLA D231A | 231 | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; D231N at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.88 | |
| GLA P40A | 40 | Conflicting reports (★) | +6: 10 other pathogenic changes within 3 positions; P40L at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.83 | |
| GLA D299E | 299 | Conflicting reports (★) | +6: 14 other pathogenic changes within 3 positions; D299G at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.76 | |
| GLA D165N | 165 | Uncertain (★★) | +6: 11 other pathogenic changes within 3 positions; D165H at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.89 | |
| GLA S201P | 201 | Uncertain (★) | +6: 6 other pathogenic changes within 3 positions; S201F at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.93 | |
| GLA F159L | 159 | Uncertain (★★) | +6: 6 other pathogenic changes within 3 positions; F159S at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.70 | |
| GLA F159V | 159 | Uncertain (★) | +6: 6 other pathogenic changes within 3 positions; F159S at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.70 | |
| GLA H46Q | 46 | Uncertain (★★) | +6: 12 other pathogenic changes within 3 positions; H46P at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.65 | |
| GLA L166M | 166 | Uncertain (★) | +6: 9 other pathogenic changes within 3 positions; L166G at the same position is pathogenic; seen in 9.1e-07 of gnomAD DNA copies; REVEL 0.688 |
Diseases related to Fabry disease
- Hypertrophic cardiomyopathy, also linked to GLA
- Primary familial hypertrophic cardiomyopathy, also linked to GLA
Frequently asked questions
Which genes are linked to Fabry disease?
In CATVariant, Fabry disease is linked to 1 analyzed protein: GLA (Alpha-galactosidase A).
How many genetic variants are linked to Fabry disease?
615 variants: 320 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 261 are of uncertain significance or have conflicting reports.
Which uncertain variants in Fabry disease look disease-causing?
24 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example GLA A288D, GLA P205A, GLA M290I, GLA D264N and GLA G144D. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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