Pompe disease GAA variant database
  Sort by   Displaying 1 - 100 of 267

 Link to variant    Link to patients Location DNA nomenclature RNA nomenclature Protein nomenclature Predicted severity Phenotype with null allele CRIM status
Variant info
intron 1A
c.-113+2T>C r.spl p.? Very severe Unknown (disease-associated) Unknown
Variant info
intron 1B
c.-32-3C>G r.(=) p.? Less severe Unknown (disease-associated) Unknown
Variant info
intron 1B
c.-32-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown
Variant info
exon 2
c.25del r.(25del) p.(Ser9Profs*34) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.205C>T r.(205c>u) p.(Gln69*) very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.241C>T r.(241c>u) p.(Gln81*) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.258dup r.(258dup) p.(Asn87Glnfs*9) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.258C>A r.(258c>a) p.? Unknown Unknown (disease-associated) Positive
Variant info
exon 2
c.271del r.(271del) p.(Asp91Ilefs*51) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.295_314del r.(295_314del) p.(Thr99Profs*40) very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.323G>A r.(323g>a) p.(Cys108Ser) Unknown Unknown (disease-associated) Positive
Variant info
exon 2
c.323G>C r.(323g>c) p.(Cys108Ser) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.352C>T r.(352c>u) p.(Gln118*) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.364A>G r.(364a>g) p.(Met122Val) Less severe Unknown (disease-associated) Unknown
Variant info
exon 2
c.365del r.(365del) p.(Met122Argfs*20) very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.380G>A r.(380g>a) p.(Cys127Tyr) Potentially less severe Unknown (disease-associated) Unknown
Variant info
exon 2
c.380G>T r.(380g>u) p.(Cys127Phe) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.397T>G r.(397u>g) p.(Tyr133Asp) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.444C>G r.(444c>g) p.(Tyr148*) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.445A>C r.(445a>c) p.(Thr149Pro) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.461G>C r.(461g>c) p.(Arg154Pro) Less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.461_469del r.(461_469del) p.(Arg154_Thr156del) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.482_483del r.(482_483del) p.(Pro161Glnfs*15) Very severe Unknown (disease-associated) Negative
Variant info
exon 2
c.505C>A r.(505c>a) p.(Leu169Met) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 2
c.546G>C r.[(546g>c), r.(spl?)] p.[(=), p.?] Potentially mild Unknown (disease-associated) Unknown
Variant info
intron 2
c.546+1G>T r.spl p.? Very severe Unknown (disease-associated) Unknown
Variant info
intron 2
c.547-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown
Variant info
exon 3
c.572A>G r.(572a>g) p.(Tyr191Cys) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 3
c.623T>C r.(623u>c) p.(Leu208Pro) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 3
c.634G>T r.(634g>u) p.(Glu212*) Very severe Unknown (disease-associated) Negative
Variant info
exon 3
c.671G>C r.(671g>c) p.(Arg224Pro) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 3
c.686G>C r.(686g>c) p.(Arg229Pro) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 3
c.692T>C r.(692u>c) p.(Leu231Pro) very severe Unknown (disease-associated) Unknown
Variant info
intron 3
c.692+1G>T r.spl p.? very severe Unknown (disease-associated) Unknown
Variant info
exon 3
c.691C>T r.(691c>u) p.(Arg190Cys) very severe Unknown (disease-associated) Unknown
Variant info
intron 3
c.693-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown
Variant info
exon 4
c.701C>A r.(701c>a) p.(Thr234Lys) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 4
c.715_716del r.(715_716del) p.(Leu239Valfs*90) very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.736del r.(736del) p.(Leu246Phefs*22) very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.737T>G r.(737u>g) p.(Leu246Arg) Unknown Unknown (disease-associated) Positive
Variant info
exon 4
c.743T>G r.(743u>g) p.(Leu248Arg) Unknown Unknown (disease-associated) Positive
Variant info
exon 4
c.743T>C r.(743u>c) p.(Leu248Pro) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 4
c.756_757insT r.(756_757insu) p.(Pro253Serfs*77) very severe Unknown (disease-associated) Unknown
Variant info
exon 4
c.759del r.(759del) p.(Ser254Argfs*14) very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.763C>T r.(763c>u) p.(Gln255*) Very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.766_784del r.(766_784del) p.(Tyr256Serfs*6) very severe Unknown (disease-associated) Unknown
Variant info
exon 4
c.766_785delinsC r.(766_785delinsc) p.(Tyr256Argfs*6) Very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.784G>C r.(784g>c) p.(Glu262Gln) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 4
c.799_803delinsA r.(799_803delinsa) p.(Leu267Serfs*46) very severe Unknown (disease-associated) Unknown
Variant info
exon 4
c.836G>A r.(836g>a) p.(Trp279*) Very severe Unknown (disease-associated) Negative
Variant info
exon 4
c.844G>C r.(844g>c) p.(Asp282His) Unknown Unknown (disease-associated) Positive
Variant info
exon 5
c.878G>T r.(878g>u) p.(Gly293Val) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 5
c.893A>C r.(893a>c) p.(Tyr298Ser) Unknown Unknown (disease-associated) Positive
Variant info
exon 5
c.923A>T r.(923a>u) p.(His308Leu) Less severe Unknown (disease-associated) Positive
Variant info
exon 5
c.942C>A r.(942c>a) p.Asn314Lys Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 5
c.955_955+1ins21 r.[(955_956ins21), (spl?)] p.? Unknown Unknown (disease-associated) Unknown
Variant info
intron 5
c.955+2T>G r.spl p.? Very severe Unknown (disease-associated) Unknown
Variant info
exon 6
c.989G>A r.(989g>a) p.(Trp330*) Very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.994_995insTT r.(994_995insuu) p.(Ser332Phefs*61) very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.1004G>A  r.(1004g>a ) p.(Gly335Glu) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 6
c.1004_1005dup r.(1004_1005dup) p.(Ile336Glyfs*57) very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.1040C>G r.(1040c>g) p.(Pro347Arg) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 6
c.1047del r.(1047del) p.(Ser349Argfs*43) very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.1051del r.(1051del) p.(Val351Cysfs*41) Very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.1057C>T r.(1057c>u) p.(Gln353*) very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.1057del r.(1057del) p.(Gln353Serfs*39) very severe Unknown (disease-associated) Negative
Variant info
exon 6
c.1075G>A r.[1075g>a, 1072_1075del] p.[(Gly359Arg), (Val358Aspfs*33)] Potentially less severe Unknown (disease-associated) Positive
Variant info
intron 6
c.1076-1G>A r.spl p.? Very severe Unknown (disease-associated) Unknown
Variant info
exon 7
c.1099T>G r.(1099u>g) p.(Trp367Gly) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1100G>A r.(1100g>a) p.(Trp367*) Very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1106T>C r.(1106u>c) p.(Leu369Pro) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1106T>A r.(1106u>a) p.(Leu369Gln) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1108G>A r.(1108g>a) p.(Gly370Ser) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1109G>A r.(1109g>a) p.(Gly370Asp) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1114C>G r.(1114c>g) p.(His372Asp) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1114C>T r.(1114c>u) p.(His372Tyr) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1118T>G r.(1118u>g ) p.(Leu373Arg) Unknown Unknown (disease-associated) Unknown
Variant info
exon 7
c.1121G>A r.(1121g>a) p.(Cys374Tyr) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1127_1130del r.(1127_1130del) p.(Trp376Serfs*15) very severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1129G>A r.(1129g>a) p.(Gly377Ser) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 7
c.1134C>G r.(1134c>g) p.(Tyr378*) Very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1143del r.(1143del) p.(Ala382Leufs*10) Very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1153del r.(1153del) p.(Arg385Alafs*7) very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1156C>T r.(1156c>u) p.(Gln386*) Very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1192dup r.(1192dup) p.(Leu398Profs*108) Very severe Unknown (disease-associated) Negative
Variant info
exon 7
c.1193del r.(1193del) p.(Leu398Argfs*42) very severe Unknown (disease-associated) Negative
Variant info
intron 7
c.1194+2T>A r.spl p.? Very severe Unknown (disease-associated) Unknown
Variant info
intron 7
c.1194+5G>A r.(spl?) p.? less severe Unknown (disease-associated) Unknown
Variant info
exon 8
c.1201C>A r.(1201c>a) p.(Gln401Lys) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1209C>A r.(1209c>a) p.(Asn403Lys) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1211A>C r.(1211a>c) p.(Asp404Ala) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1212C>G r.(1212c>g) p.(Asp404Glu) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1219T>C r.(1219u>c) p.(Tyr407His) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1221del r.1221del p.(Tyr407*) very severe Unknown (disease-associated) Negative
Variant info
exon 8
c.1231del r.(1231del) p.(Arg411Glyfs*29) very severe Unknown (disease-associated) Negative
Variant info
exon 8
c.1239C>G r.(1239c>g) p.(Asp413Glu) Unknown Unknown (disease-associated) Positive
Variant info
exon 8
c.1240T>C r.(1240u>c) p.(Phe414Leu) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1242C>A r.(1242c>a) p.(Phe414Leu) potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1249A>C r.(1249a>c) p.(Asn417His) Potentially less severe Unknown (disease-associated) Positive
Variant info
exon 8
c.1256A>T r.1256a>u p.(Asp419Val) Potentially mild Unknown (disease-associated) Positive

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