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:3 exon 9 c.1375G>A r.(1375g>a) p.(Asp459Asn) Unknown Unknown (disease-associated) Positive 3
Variant info Patients:1 exon 9 c.1377_1379del r.(1377_1379del) p.(Asp459del) Very severe Classic infantile Positive 1
Variant info Patients:2 exon 9 c.1378G>T r.(1378g>u) p.(Glu460*) very severe Unknown (disease-associated) Negative 2
Variant info Patients:0 exon 9 c.1381G>A r.(1381g>a) p.(Gly461Ser) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 9 c.1385T>C r.(1385u>c) p.(Leu462Pro) Unknown Classic infantile Positive 1
Variant info Patients:1 exon 9 c.1388_1406del r.(1388_1406del) p.(Arg463Profs*8) very severe Unknown (disease-associated) Negative 1
Variant info Patients:5 exon 9 c.1396del r.(1396del) p.(Val466Phefs*11) Very severe Classic infantile Negative 5
Variant info Patients:2 exon 9 c.1396dup r.(1396dup) p.(Val466Glyfs*40) very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 exon 9 c.1396G>T r.(1396g>u) p.(Val466Phe) Potentially less severe Classic infantile Positive 2
Variant info Patients:1 exon 9 c.1397T>G r.(1397u>g) p.(Val466Gly) Unknown Childhood Positive 1
Variant info Patients:2 exon 9 c.1402A>T r.(1402a>u) p.(Ile468Phe) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:3 exon 9 c.1408_1410del r.(1408_1410del) p.(Asn470del) Unknown Classic infantile Positive 3
Variant info Patients:1 exon 9 c.1409A>G r.(1409a>g) p.(Asn470Ser) potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 9 c.1409A>C r.(1409a>c) p.(Asn470Thr) unknown Unknown (found only in NBS) Positive 1
Variant info Patients:18 exon 9 c.1411_1414del r.(1411_1414del) p.(Glu471Profs*5) Very severe Classic infantile Negative 18
Variant info Patients:1 exon 9 c.1431del r.(1431del) p.(Ile477Metfs*43) very severe Classic infantile Negative 1
Variant info Patients:3 exon 9 c.1432G>A r.(1432g>a) p.(Gly478Arg) Potentially less severe Classic infantile Positive 3
Variant info Patients:2 exon 9 c.1437G>C r.[(1437g>c), r.(spl?)] p.[(Lys479Asn), p.(?)] Potentially less severe Classic infantile Unknown 2
Variant info Patients:5 exon 9 c.1437G>A r.[1437g>a, 1327_1437del] p.[(=), (Asp443_Lys479del)] Less severe Unknown (disease-associated) Positive 5
Variant info Patients:1 intron 9 c.1437+1G>A r.spl p.? Very severe Classic infantile or Childhood Unknown 1
Variant info Patients:6 intron 9 c.1437+2T>C r.1327_1437del p.(Asp443_Lys479del) Very severe Classic infantile Unknown 6
Variant info Patients:0 intron 9 c.1438-220A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 9 c.1438-108G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 9 c.1437+4G>C r.(spl?) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 9 c.1438-19G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 9 c.1438-2A>G r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:2 intron 9 c.1438-1G>C r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:0 intron 9 c.1438-1G>T r.spl p.? Very severe Unknown Unknown 0
Variant info Patients:1 exon 10 c.1441del r.(1441del) p.(Trp481Glyfs*39) Very severe Classic infantile Negative 1
Variant info Patients:7 exon 10 c.1441T>C r.(1441u>c) p.(Trp481Arg) Potentially less severe Classic infantile Positive 7
Variant info Patients:1 exon 10 c.1442G>A r.(1442g>a) p.(Trp481*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 10 c.1445C>T r.(1445c>u) p.(Pro482Leu) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 10 c.1445C>G r.(1445c>g) p.(Pro482Arg) Potentially less severe Unknown (disease-associated) Positive 3
Variant info Patients:0 exon 10 c.1446del r.(1446del) p.(Ser484Profs*36) very severe Unknown (disease-associated) Negative 0
Variant info Patients:7 exon 10 c.1447G>A r.(1447g>a) p.(Gly483Arg) Less severe Classic infantile Positive 7
Variant info Patients:1 exon 10 c.1447G>T r.(1447g>u) p.(Gly483Trp) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 10 c.1448G>T r.(1448g>u) p.(Gly483Val) Potentially less severe Unknown Positive 0
Variant info Patients:2 exon 10 c.1456G>C r.(1456g>c) p.(Ala486Pro) Potentially less severe Classic infantile Positive 2
Variant info Patients:0 exon 10 c.1456G>T r.(1456g>u) p.(Ala486Ser) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 10 c.1456_1468del r.(1456_1468del) p.(Ala486Serfs*30) Very severe Classic infantile Negative 1
Variant info Patients:1 exon 10 c.1460T>C r.(1460u>c) p.(Phe487Ser) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 10 c.1464dup r.1464dup p.(Asp489Argfs*17) very severe Classic infantile Negative 1
Variant info Patients:8 exon 10 c.1465G>A r.(1465g>a) p.(Asp489Asn) Potentially less severe Classic infantile Positive 8
Variant info Patients:1 exon 10 c.1465G>T r.(1465g>u) p.(Asp489Tyr) Unknown Classic infantile Positive 1
Variant info Patients:1 exon 10 c.1466A>G r.(1466a>g) p.(Asp489Gly) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 10 c.1468T>C r.(1468u>c) p.(Phe490Leu) Less severe Unknown Positive 0
Variant info Patients:1 exon 10 c.1470C>A r.(1470c>a) p.(Phe490Leu) Potentially less severe Childhood Positive 1
Variant info Patients:1 exon 10 c.1477C>T r.(1477c>u) p.(Pro493Ser) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 10 c.1478C>T r.(1478c>u) p.(Pro493Leu) Unknown Adult Positive 3
Variant info Patients:1 exon 10 c.1493G>A r.(1493g>a) p.(Trp498*) very severe Classic infantile Unknown 1
Variant info Patients:2 exon 10 c.1495T>A r.(1495u>a) p.(Trp499Arg) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:2 exon 10 c.1496G>A r.(1496g>a) p.(Trp499*) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 10 c.1497G>A r.(1497g>a) p.(Trp499*) Very severe Classic infantile Negative 2
Variant info Patients:0 exon 10 c.1501_1515del r.(1501_1515del) p.(Asp501_Glu505del) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 10 c.1504A>G r.(1504a>g) p.(Met502Val) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 10 c.1507del r.(1507del) p.(Val503Trpfs*17) very severe Classic infantile Negative 0
Variant info Patients:1 exon 10 c.1509_1511del r.(1509_1511del) p.(Ala504del) Potentially less severe Classic infantile Positive 1
Variant info Patients:2 exon 10 c.1526A>T r.(1526a>u) p.(Gln509Leu) potentially less severe Unknown (disease-associated) Unknown 2
Variant info Patients: exon 10 c.1531C>A r.(1531c>a) p.(Pro511Thr) Potentially less severe Unknown (disease-associated) Unknown
Variant info Patients:0 exon 10 c.1537G>A r.(1537g>a) p.(Asp513Asn) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 10 c.1538A>G r.(1538a>g) p.(Asp513Gly) potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 10 c.1540G>C r.(1540g>c) p.(Gly514Arg) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 10 c.1544T>A r.(1544u>a) p.(Met515Lys) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:23 exon 10 c.1548G>A r.(1548g>a) p.(Trp516*) Very severe Classic infantile Negative 23
Variant info Patients:5 intron 10 c.1551+1G>C r.spl p.? Very severe Classic infantile Unknown 5
Variant info Patients:5 intron 10 c.1551+1G>T r.[=,1438_1551del] p.[(=),(Val480_Ile517del)] Potentially less severe Unknown (disease-associated) Positive 5
Variant info Patients:2 intron 10 c.1551+1G>A r.[=,1438_1551del] p.[(=),(Val480_Ile517del)] Very severe Unknown (disease-associated) Positive 2
Variant info Patients:2 intron 10 c.1551+2T>G r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:1 intron 10 c.1551+3_1551+6del r.(spl?) p.? Potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 10 c.1551+3A>T r.(spl?) p.? potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 10 c.1551+5G>A r.(spl?) p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 intron 10 c.1551+42G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 10 c.1551+49C>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 10 c.1551+49C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 10 c.1552-3C>G r.[=,1551ins30, 1551ins100] p.[(=), (Val480_Ile517del), (Ile517_Asp518insSerHisLeuProAlaAlaLeuLeuLeuGln)] Potentially mild Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 11 c.1555A>G r.(1555a>g) p.(Met519Val) Less severe Classic infantile Positive 1
Variant info Patients:2 exon 11 c.1556T>C r.(1556u>c) p.(Met519Thr) Potentially less severe Classic infantile Positive 2
Variant info Patients:1 exon 11 c.1559A>G r.(1559a>g) p.(Asn520Ser) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 11 c.1560C>G r.(1560c>g) p.(Asn520Lys) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 11 c.1561G>C r.(1561g>c) p.(Glu521Gln) Potentially less severe Classic infantile Positive 1
Variant info Patients:7 exon 11 c.1561G>A r.(1561g>a) p.(Glu521Lys) Potentially less severe Classic infantile or Childhood Positive 7
Variant info Patients:4 exon 11 c.1562A>T r.(1562a>u) p.(Glu521Val) Unknown Classic infantile Unknown 4
Variant info Patients:7 exon 11 c.1564C>G r.(1564c>g) p.(Pro522Ala) Potentially less severe Classic infantile Positive 7
Variant info Patients:1 exon 11 c.1564C>A r.(1564c>a) p.(Pro522Thr) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 11 c.1564C>T r.(1564c>u) p.(Pro522Ser) Potentially less severe Unknown Positive 0
Variant info Patients:0 exon 11 c.1568C>A r.(1568c>a) p.(Ser523Tyr) Potentially less severe Unknown Positive 0
Variant info Patients:2 exon 11 c.1574T>A r.(1574u>a) p.(Phe525Tyr) Potentially mild Unknown (found only in NBS) Positive 2
Variant info Patients:1 exon 11 c.1579_1580del r.(1579_1580del) p.(Arg527Glyfs*3) very severe Classic infantile Unknown 1
Variant info Patients:0 exon 11 c.1581G>A r.1581g>a p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 11 c.1582_1583del r.(1582_1583del) p.(Gly528Leufs*2) Very severe Classic infantile Negative 1
Variant info Patients:0 exon 11 c.1583G>C r.(1583g>c) p.(Gly528Ala) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:4 exon 11 c.1585_1586delinsGT r.(1585_1586delinsGU) p.(Ser529Val) Potentially mild Adult Positive 4
Variant info Patients:3 exon 11 c.1591dup r.(1591dup) p.(Asp531Glyfs*7) Very severe Unknown (disease-associated) Negative 3
Variant info Patients:1 exon 11 c.1594G>A r.(1594g>a) p.(Gly532Ser) potentially less severe Adult Positive 1
Variant info Patients:1 exon 11 c.1597T>G r.(1597u>g) p.(Cys533Gly) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 11 c.1602_1605delinsAGG r.(1602_1605delinsagg) p.(Asn535Glyfs*43) very severe Classic infantile Negative 1
Variant info Patients:0 exon 11 c.1610del r.(1610del) p.(Glu537Glyfs*41) very severe Unknown (disease-associated) Negative 0
Variant info Patients:1 exon 11 c.1626C>G r.(1626c>g) p.(=) Unknown Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 11 c.1627T>G r.(1627u>g) p.(Tyr543Asp) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 11 c.1629C>G r.(1629c>g) p.(Tyr543*) very severe Unknown (disease-associated) Unknown 1

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