Pompe disease GAA variant database
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Displaying 501 - 600 of 911
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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:7 exon 11 c.1634C>T r.(1634c>u) p.(Pro545Leu) Less severe Childhood or Adult Unknown 7
Variant info Patients:0 exon 11 c.1636G>C r.(1636g>c) p.(Gly546Arg) Very severe Unknown (disease-associated) Unknown 0
Variant info Patients:6 intron 11 c.1636+1G>C r.spl p.? Very severe Unknown (disease-associated) Unknown 6
Variant info Patients:1 intron 11 c.1636+5G>T r.(spl?) p.? Potentially mild Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 11 c.1636+5G>A r.(spl?) p.? very severe Classic infantile Unknown 1
Variant info Patients:1 intron 11 c.1636+5G>C r.(1636_1637ins957 p.(Gly546fs*145) Very severe Classic infantile Unknown 1
Variant info Patients:0 intron 11 c.1636+43G>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+117del r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+117C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+118G>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+205C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+210G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+269C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+284G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+389C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+390A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1636+404A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 11 c.1637-185A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 11 c.1637-2A>G r.spl p.? Very severe Classic infantile Unknown 1
Variant info Patients:3 exon 12 c.1642G>T r.(1642g>u) p.(Val548Phe) Unknown Unknown (disease-associated) Positive 3
Variant info Patients:1 exon 12 c.1645G>A r.(1645g>a) p.(Gly549Arg) Potentially mild Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 12 c.1645G>C r.(1645g>c) p.(Gly549Arg) Potentially mild Unknown (disease-associated) Positive 1
Variant info Patients:4 exon 12 c.1650dup r.(1650dup) p.(Thr551Aspfs*85) Very severe Classic infantile Negative 4
Variant info Patients:4 exon 12 c.1650del r.(1650del) p.(Thr551Profs*27) very severe Unknown (disease-associated) Negative 4
Variant info Patients:2 exon 12 c.1654del r.(1654del) p.(Leu552Serfs*26) Very severe Classic infantile Negative 2
Variant info Patients:42 exon 12 c.1655T>C r.(1655u>c) p.(Leu552Pro) Potentially less severe Classic infantile Positive 42
Variant info Patients:6 exon 12 c.1657C>T r.(1657c>u) p.(Gln553*) very severe Classic infantile Negative 6
Variant info Patients:2 exon 12 c.1666A>G r.(1666a>g) p.(Thr556Ala) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:4 exon 12 c.1669A>T r.(1669a>u) p.(Ile557Phe) Very severe Classic infantile Positive 4
Variant info Patients:2 exon 12 c.1670T>G r.(1670u>g) p.(Ile557Ser) very severe Unknown Unknown 2
Variant info Patients:0 exon 12 c.1672T>A r.(1672u>a) p.(Cys558Ser) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 12 c.1673G>C r.(1673g>c) p.(Cys558Ser) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 12 c.1681_1699dup r.(1681_1699dup) p.(Thr567Lysfs*75) very severe Unknown (disease-associated) Negative 1
Variant info Patients:4 exon 12 c.1687C>T r.(1687c>u) p.(Gln563*) Very severe Classic infantile Negative 4
Variant info Patients:2 exon 12 c.1688A>T r.(1688a>u) p.(Gln563Leu) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:4 exon 12 c.1694_1697del r.(1694_1697del) p.(Leu565Profs*12) Very severe Unknown (disease-associated) Negative 4
Variant info Patients:7 exon 12 c.1696T>C r.(1696u>c) p.(Ser566Pro) Potentially less severe Classic infantile Positive 7
Variant info Patients:1 exon 12 c.1703A>T r.(1703a>u) p.(His568Leu) Less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 12 c.1704C>G r.(1704c>g) p.(His568Gln) Unknown Adult Unknown 1
Variant info Patients:1 exon 12 c.1705dup r.(1705dup) p.(tyr569Leufs*67) Very severe Classic infantile Negative 1
Variant info Patients:2 exon 12 c.1710C>G r.(1710c>g) p.(Asn570Lys) Potentially less severe Classic infantile Positive 2
Variant info Patients:2 exon 12 c.1716C>G r.(1716c>g) p.(His572Gln) Potentially less severe Classic infantile Unknown 2
Variant info Patients:1 exon 12 c.1716C>A r.(1716c>a) p.(His572Gln) potentially less severe Classic infantile Positive 1
Variant info Patients:0 exon 12 c.1717A>C r.(1717a>c) p.(Asn573His) Potentially less severe Unknown Positive 0
Variant info Patients:2 exon 12 c.1719C>A r.(1719c>a) p.(Asn573Lys) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 12 c.1721T>C r.(1721u>c) p.(Leu574Pro) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 12 c.1724A>C r.(1724a>c) p.(Tyr575Ser) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 12 c.1724A>G r.(1724a>g) p.(Tyr575Cys) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 12 c.1725C>A r.(1725c>a) p.(Tyr575*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 12 c.1726G>A r.1726g>a p.(Gly576Ser) Presumably non-pathogenic Unknown Unknown 0
Variant info Patients: exon 12 c.1726G>C r.(1726g>c) p.(Gly576Arg) Potentially less severe Unknown (disease-associated) Positive
Variant info Patients:0 exon 12 c.1727G>A r.(1727g>a) p.(Gly576Asp) Potentially less severe Unknown Positive 0
Variant info Patients:5 exon 12 c.1735G>A r.(1735g>a) p.(Glu579Lys) Potentially less severe Classic infantile Positive 5
Variant info Patients:1 exon 12 c.1748C>T r.(1748c>u) p.(Ser583Phe) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 12 c.1753_2799del r.(1753_2799del) p.(Arg586_Lys933del) very severe Classic infantile Unknown 1
Variant info Patients:1 exon 12 c.1754G>T r.[(1754g>u), r.(spl?)] p.[(Arg585Met), p.?] Less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 12 c.1754G>A r.[(1754g>a), r.(spl?)] p.[(Arg585Lys), p.?] Less severe Childhood or Adult Unknown 1
Variant info Patients:3 intron 12 c.1754+1G>A r.spl p.? Very severe Classic infantile Negative 3
Variant info Patients:3 intron 12 c.1754+1dup r.spl p.? very severe Unknown (disease-associated) Unknown 3
Variant info Patients:1 intron 12 c.1754+2T>A r.spl p.? Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 intron 12 c.1754+2T>C r.spl p.? very severe Unknown (disease-associated) Unknown 0
Variant info Patients:0 intron 12 c.1754+12G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 12 c.1754+100C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 12 c.1754+104C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 12 c.1754+144C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 12 c.1755-186A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 12 c.1754+16C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 12 c.1755-1G>A r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:1 exon 13 c.1760T>C r.(1760u>c) p.(Leu587Pro) Unknown Classic infantile Positive 1
Variant info Patients:1 exon 13 c.1771C>T r.(1771c>u) p.(Arg591Trp) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 13 c.1776del r.(1776del) p.(Thr593Hisfs*5) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 13 c.1780C>T r.(1780c>u) p.(Arg594Cys) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 13 c.1781G>C r.(1781g>c) p.(Arg594Pro) Potentially less severe Childhood or adult Positive 3
Variant info Patients:3 exon 13 c.1781G>A r.(1781g>a) p.(Arg594His) Potentially less severe Childhood Positive 3
Variant info Patients:1 exon 13 c.1784C>T r.(1784c>u) p.(Pro595Leu) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 13 c.1796C>A r.(1796c>a) p.(Ser599Tyr) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:5 exon 13 c.1796C>T r.(1796c>u) p.(Ser599Phe) Less severe Unknown (disease-associated) Positive 5
Variant info Patients:18 exon 13 c.1798C>T r.(1798c>u) p.(Arg600Cys) Less severe Classic infantile Positive 18
Variant info Patients:13 exon 13 c.1799G>A r.(1799g>a) p.(Arg600His) Potentially less severe Classic infantile Positive 13
Variant info Patients:1 exon 13 c.1799G>C r.(1799g>c) p.(Arg600Pro) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 13 c.1799G>T r.(1799g>u) p.(Arg600Leu) Potentially less severe Classic infantile Positive 1
Variant info Patients:2 exon 13 c.1802C>A r.(1802c>a) p.(Ser601*) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 13 c.1802C>G r.(1802c>g) p.(Ser601Trp) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:10 exon 13 c.1802C>T r.(1802c>u) p.(Ser601Leu) Potentially less severe Classic infantile Positive 10
Variant info Patients:0 exon 13 c.1804A>G r.(1804a>g) p.(Thr602Ala) Less severe Unknown Positive 0
Variant info Patients:1 exon 13 c.1805C>T r.(1805c>u) p.(Thr602Ile) Potentially less severe Unknown (found only in NBS) Positive 1
Variant info Patients:1 exon 13 c.1814G>A r.(1814g>a) p.(Gly605Asp) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 13 c.1819_1836del r.(1819_1836del) p.(Gly607_His612del) Very severe Unknown (disease-associated) Positive 2
Variant info Patients:2 exon 13 c.1820G>A r.(1820g>a) p.(Gly607Asp) Potentially less severe Classic infantile Positive 2
Variant info Patients:8 exon 13 c.1822C>T r.(1822c>u) p.(Arg608*) Very severe Classic infantile Negative 8
Variant info Patients:1 exon 13 c.1822del r.(1822del) p.(Arg608Aspfs*88) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 13 c.1824_1828dup r.(1824_1828dup) p.(Ala610Aspfs*88) Very severe Classic infantile Negative 1
Variant info Patients:2 exon 13 c.1825T>G r.(1825u>g) p.(Tyr609Asp) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:4 exon 13 c.1826dup r.(1826dup) p.(Tyr609*) Very severe Classic infantile Negative 4
Variant info Patients:3 exon 13 c.1827del r.(1827del) p.(Tyr609*) Very severe Unknown (disease-associated) Negative 3
Variant info Patients:1 exon 13 c.1827C>G r.(1827c>g) p.(Tyr609*) Very severe Classic infantile Negative 1
Variant info Patients:2 exon 13 c.1829C>T r.(1829c>u) p.(Ala610Val) Less severe Childhood Positive 2
Variant info Patients:0 exon 13 c.1830C>T r.(1830c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:2 exon 13 c.1832G>A r.(1832g>a) p.(Gly611Asp) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:5 exon 13 c.1833_1847delinsACGGGGTAT c.(1833_1847delinsacgggguau) p.(His612_Asp616delinsArgGlyIle) Very severe Classic infantile Positive 5

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