Pompe disease GAA variant database
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Link to variant Link to patients Location DNA nomenclature RNA nomenclature Protein nomenclature Predicted severity Phenotype with null allele CRIM status Number of patients
Variant info Patients:1 exon 16 c.2322_2323insggtgagtctgcaaacggggagt r.(2322_2323insggugagucugcaaacggggagu) p.(Asp774Glufs*14) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 16 c.2326C>T r.(2326c>u) p.(Gln776*) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 intron 16 c.2331+1G>A r.spl p.? Very severe Unknown (disease-associated) Unknown 2
Variant info Patients:2 intron 16 c.2331+2T>C r.2316_2331del p.(Tyr773fs*3) Very severe Classic infantile Unknown 2
Variant info Patients:8 intron 16 c.2331+2T>A r.[2315_2331delins2332-109_2332-1 ,2315_2331del] p.[Trp772Cysfs*40, Trp772Cysfs*18] Very severe Classic infantile Negative 8
Variant info Patients:1 intron 16 c.2331+4A>G r.(spl?) p.? Less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 16 c.2331+5G>C r.(spl?) p.? very severe Classic infantile Unknown 1
Variant info Patients:0 intron 16 c.2331+20G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 16 c.2331+24T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 16 c.2331+102del r.?) p.? presumably non pathogenic Unknown (disease-associated) Positive 1
Variant info Patients:0 intron 16 c.2331+151C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 16 c.2332-198A>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 17 c.2334_2335dup r.(2334_2335dup) p.(Pro779Argfs*3) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 17 c.2338G>A r.2338g>a p.(Val780Ile) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 17 c.2357dup r.(2357dup) p.(Pro788Thrfs*8) Very severe Unknown Negative 0
Variant info Patients:1 exon 17 c.2373_2376delinsTGCTCA r.(2373_2376delinsugcuca) p.(Pro793Hisfs*14) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 17 c.2377_2378insAC r.(2377_2378insAC) p.(Pro793Hisfs*14) very severe Classic infantile Unknown 1
Variant info Patients:2 exon 17 c.2380del r.(2380del) p.(Arg794fs*12) Very severe Classic infantile Negative 2
Variant info Patients:1 exon 17 c.2380dup r.(2380dup) p.(Arg794Profs*2) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 17 c.2385del r.(2385del) p.(Glu795Aspfs*11) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 17 c.2395C>G r.(2395c>g) p.(His799Asp) Unknown Unknown Positive 0
Variant info Patients:0 exon 17 c.2395C>T r.(2395c>u) p.(His799Tyr) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 17 c.2407_2412del r.(2407_2412del) p.(Gln803_Trp804del) Unknown Childhood Positive 1
Variant info Patients:1 exon 17 c.2407C>T r.(2407c>u) p.(Gln803*) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 17 c.2408_2426del r.(2408_2426del) p.(Gln803Profs*39) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 17 c.2411G>A r.(2411g>a) p.(Trp804*) very severe Classic infantile Unknown 1
Variant info Patients:2 exon 17 c.2431dup r.(2431dup) p.(Leu811Profs*73) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 17 c.2431del r.(2431del) p.(Leu811Trpfs*37) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:3 exon 17 c.2432del r.(2432del) p.(Leu811fs*36) Very severe Classic infantile Negative 3
Variant info Patients:1 exon 17 c.2439dup r.(2439dup) p.(Ile814Hisfs*70) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 17 c.2446G>A r.2446g>a p.(Val816Ile) Non-pathogenic Unknown Positive 0
Variant info Patients:4 exon 17 c.2456G>C r.(2456g>c) p.(Arg819Pro) Potentially less severe Unknown (disease-associated) Positive 4
Variant info Patients:3 exon 17 c.2459_2461del r.(2459_2461del) p.(Ala820del) Potentially less severe Unknown (disease-associated) Positive 3
Variant info Patients:2 exon 17 c.2460dup r.(2460dup) p.(Gly821Trpfs*63) very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 17 c.2474C>G r.(2474c>g) p.(Pro825Arg) Potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 17 c.2480A>G r.(2480a>g) p.(Gln827Arg) potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 17 c.2481+1G>A r.spl p.? Very severe Childhood Unknown 1
Variant info Patients:1 intron 17 c.2481+2T>C r.[2331_2332ins2332-109_2332-1; 2462_2481del, 2462_2481del, 2332_2481del] p.[Val778AlaSerTer, Tyr822Profs*55, Val778_Gln827del] Very severe Unknown (disease-associated) Unknown 1
Variant info Patients:116 intron 17 c.2481+102_2646+31del r.2482_2646del p.(Gly828_Asn882del) Very severe Classic infantile Positive 116
Variant info Patients:0 intron 17 c.2482-132C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 17 c.2482-5T>C r.? p.? unknown Unknown (found only in NBS) Positive 1
Variant info Patients:1 intron 17 c.2482-2A>G r.spl p.? unknown Unknown (found only in NBS) Unknown 1
Variant info Patients:4 exon 18 c.2495_2496del r.(2495_2496del) p.(Thr832Asnfs*51) Very severe Classic infantile Negative 4
Variant info Patients:7 exon 18 c.2501_2502del r.(2501_2502del) p.(Thr834Argfs*49) Very severe Classic infantile Negative 7
Variant info Patients:4 exon 18 c.2512C>T r.(2512c>u) p.(Gln838*) Very severe Classic infantile Negative 4
Variant info Patients:0 exon 18 c.2515C>T r.(2515c>u) p.(Gln839*) very severe Unknown (disease-associated) Negative 0
Variant info Patients:1 exon 18 c.2528T>C r.(2528u>c) p.(Leu843Pro) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:5 exon 18 c.2530_2541del r.(2530_2541del) p.(Arg844_Leu847del) Potentially less severe Unknown (disease-associated) Positive 5
Variant info Patients:1 exon 18 c.2537C>A r.(2537c>a) p.(Ala846Asp) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 18 c.2544del r.(2544del) p.(Lys849Argfs*38) very severe Unknown (disease-associated) Negative 0
Variant info Patients:0 exon 18 c.2553G>A r.2553g>a p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:77 exon 18 c.2560C>T r.(2560c>u) p.(Arg854*) Very severe Classic infantile Negative 77
Variant info Patients:1 exon 18 c.2563G>C r.(2563g>c) p.(Gly855Arg) Potentially less severe Classic infantile Positive 1
Variant info Patients:3 exon 18 c.2578G>A r.(2578g>a) p.(Asp860Asn) Potentially less severe Unknown (disease-associated) Positive 3
Variant info Patients:2 exon 18 c.2584G>A r.(2584g>a) p.(Gly862Arg) Potentially less severe Childhood Positive 2
Variant info Patients:1 exon 18 c.2585del r.(2585del) p.(Gly862Glufs*25) very severe Classic infantile Negative 1
Variant info Patients:1 exon 18 c.2596del r.(2596del) p.(Glu866Lysfs*21) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 18 c.2600_2604delinsA r.(2600_2604delinsa) p.(Val867Glufs*19) Very severe Classic infantile or Childhood Negative 1
Variant info Patients:1 exon 18 c.2605del r.(2605del) p.(Glu869Serfs*18) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:10 exon 18 c.2608C>T r.(2608c>u) p.(Arg870*) Very severe Classic infantile Negative 10
Variant info Patients:1 exon 18 c.2619C>G r.(2619c>g) p.(Tyr873*) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 18 c.2636T>C r.(2636u>c) p.(Leu879Pro) potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 18 c.2639C>A r.(2639c>a) p.(Ala880Asp) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 18 c.2646_2646+1del r.spl p.? Very severe Unknown (disease-associated) Unknown 1
Variant info Patients:6 intron 18 c.2646+2T>A r.spl p.? Very severe Classic infantile Unknown 6
Variant info Patients:0 intron 18 c.2646+39G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 18 c.2647-71G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 18 c.2647-23del r.? p.? unknown Unknown (found only in NBS) Positive 1
Variant info Patients:1 intron 18 c.2647-20T>G r.(spl?) p.? Unknown Unknown (disease-associated) Unknown 1
Variant info Patients:12 intron 18 c.2647-7G>A r.(spl?) p.? Potentially mild Adult Unknown 12
Variant info Patients:3 exon 19 c.2655_2656del r.(2655_2656del) p.(Val886Glufs*2) very severe Unknown (disease-associated) Negative 3
Variant info Patients:26 exon 19 c.2662G>T r.(2662g>u) p.(Glu888*) Very severe Classic infantile Negative 26
Variant info Patients:1 exon 19 c.2702T>A r.(2702u>a) p.(Leu901Gln) Potentially less severe Childhood Positive 1
Variant info Patients:2 exon 19 c.2706del r.(2706del) p.(Lys903Argfs*2) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 19 c.2707_2709del r.(2707_2709del) p.(Lys903del) Very severe Classic infantile Positive 1
Variant info Patients:1 exon 19 c.2716G>A r.(2716g>a) p.(Val906Ile) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 19 c.2720T>C r.(2720u>c) p.(Leu907Pro) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 19 c.2724C>G r.(2724c>g) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 19 c.2725G>A r.(2725g>a) p.(Val909Met) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 19 c.2738C>G r.(2738c>g) p.(Pro913Arg) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 19 c.2740dup r.(2740dup) p.(Gln914Profs*104) very severe Unknown (disease-associated) Negative 1
Variant info Patients:5 exon 19 c.2741delinsCAG r.(2741delinscag) p.(Gln914fs*30) Very severe Classic infantile Negative 5
Variant info Patients:0 exon 19 c.2742dup r.(2742dup) p.(Gln915Alafs*103) very severe Classic infantile Negative 0
Variant info Patients:1 exon 19 c.2744A>C r.(2744a>c) p.(Gln915Pro) Unknown Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 19 c.2746G>T r.(2746g>u) p.(Val916Phe) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 19 c.2757del r.(2757del) p.(Asn919Lysfs*24) very severe Unknown (disease-associated) Unknown 2
Variant info Patients:1 exon 19 c.2758_2775dup r.(2758_2775dup) p.(ly920_Asn925dup) Very severe Classic infantile Positive 1
Variant info Patients:0 exon 19 c.2770T>C r.(2770u>c) p.(Ser924Pro) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 19 c.2780C>T r.2780c>u p.(Thr927Ile) Non-pathogenic Unknown Positive 0
Variant info Patients:4 exon 19 c.2783A>G r.(2783a>g) p.(Tyr928Cys) Unknown Unknown (disease-associated) Positive 4
Variant info Patients:2 intron 19 c.2799+4A>G r.(spl?) p.? Unknown Adult Unknown 2
Variant info Patients:1 intron 19 c.2799+5G>A r.(spl?) p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 intron 19 c.2800-60G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 19 c.2800-227C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 19 c.2800-4C>G r.(=) p.? Unknown Unknown (disease-associated) Unknown 2
Variant info Patients:1 intron 19 c.2800-1G>C r.spl p.? very severe Classic infantile Unknown 1
Variant info Patients:0 exon 20 c.2804T>C r.(2804u>c) p.(Leu935Pro) Potentially less severe Unknown Positive 0
Variant info Patients:0 exon 20 c.2808C>T r.(2808c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:6 exon 20 c.2815_2816del r.(2815_2816del) p.(Val939Leufs*78) Very severe Classic infantile Negative 6
Variant info Patients:2 exon 20 c.2843dup r.(2843dup) p.(Val949Argfs*69) very severe Classic infantile Negative 2

The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA gene and is maintained and provide by the Pompe center, Erasmus MC.

We kindly ask you to reference one of the following articles if you use this database for research purposes:

de Faria, DOS, in 't Groen, SLM, Bergsma, AJ, et al. Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation. 2021; 42: 119-134. https://doi.org/10.1002/humu.24148

Niño, MY, in 't Groen, SLM, Hoogeveen-Westerveld, M, et al. Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity. Human Mutation. 2019; 40: 1954–1967. https://doi.org/10.1002/humu.23854

www.pompecenter.nl