Pompe disease GAA variant database
  Sort by   Displaying 401 - 500 of 911

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

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