Pompe disease GAA variant database
Sort by 
Displaying 601 - 700 of 911
  • Print
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 13 c.1834C>T r.(1834c>u) p.(His612Tyr) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 13 c.1835A>C r.(1835a>c) p.(His612Pro) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 13 c.1835A>G r.(1835a>g) p.(His612Arg) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:1 exon 13 c.1836C>G r.(1836c>g) p.(His612Gln) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 13 c.1837T>G r.(1837u>g) p.(Trp613Gly) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 13 c.1839G>C r.(1839g>c) p.(Trp613Cys) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 13 c.1840A>G r.(1840a>g) p.(Thr614Ala) unknown Unknown (found only in NBS) Positive 1
Variant info Patients:3 exon 13 c.1841C>A r.(1841c>a) p.(Thr614Lys) Potentially less severe Unknown (disease-associated) Positive 3
Variant info Patients:9 exon 13 c.1843G>A r.(1843g>a) p.(Gly615Arg) Potentially less severe Classic infantile Positive 9
Variant info Patients:1 exon 13 c.1844_1846del r.(1844_1846del) p.(Gly615del) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 13 c.1844G>T r.(1844g>u) p.(Gly615Val) Potentially less severe Classic infantile Positive 1
Variant info Patients:0 exon 13 c.1844G>A r.(1844g>a) p.(Gly615Glu) potentially less severe Classic infantile Positive 0
Variant info Patients:1 exon 13 c.1846G>A r.(1846g>a) p.(Asp616Asn) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 13 c.1847dup r.(1847dup) p.(Asp616Glufs*20) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 13 c.1848dup r.(1848dup) p.(Val617Argfs*19) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 13 c.1850T>C r.(1850u>c) p.(Val617Ala) Non-pathogenic Unknown Positive 0
Variant info Patients:4 exon 13 c.1856G>A r.(1856g>a) p.(Ser619Asn) Less severe Childhood or Adult Positive 4
Variant info Patients:14 exon 13 c.1857C>G r.(1857c>g) p.(Ser619Arg) Less severe Classic infantile or Childhood Positive 14
Variant info Patients:1 exon 13 c.1859C>A r.(1859c>a) p.(Ser620Tyr) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 13 c.1872C>T r.(1872c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 13 c.1879T>C r.(1879u>c) p.(Ser627Pro) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 13 c.1879_1881del r.(1879_1881delucc) p.(Ser627del) potentially less severe Classic infantile Positive 1
Variant info Patients:5 exon 13 c.1880C>T r.(1880c>u) p.(Ser627Phe) Unknown Classic infantile Positive 5
Variant info Patients:0 exon 13 c.1886C>T r.(1886c>u) p.(Pro629Leu) Presumably non-pathogenic Unknown Positive 0
Variant info Patients:3 intron 13 c.1888+1G>A r.spl p.? Very severe Unknown (disease-associated) Negative 3
Variant info Patients:1 intron 13 c.1888+2_1888+15del r.spl p.? very severe Classic infantile Unknown 1
Variant info Patients:0 intron 13 c.1888+21G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 13 c.1889-27_2040+23del r.spl p.? Very severe Unknown Negative 0
Variant info Patients: exon 14 c.1895T>C r.(1895u>c) p.(Leu632Pro) potentially less severe Unknown (disease-associated) Positive
Variant info Patients:2 exon 14 c.1895T>G r.(1895u>g) p.(Leu632Arg) potentially less severe Classic infantile Positive 2
Variant info Patients:0 exon 14 c.1903A>G r.(1903a>g) p.(Asn635Asp) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:4 exon 14 c.1905C>A r.(1905c>a) p.(Asn635Lys) Potentially less severe Classic infantile Positive 4
Variant info Patients:14 exon 14 c.1912G>T r.(1912g>u) p.(Gly638Trp) Potentially less severe Classic infantile Unknown 14
Variant info Patients:3 exon 14 c.1913G>T r.(1913g>u) p.(Gly638Val) Potentially less severe Classic infantile Positive 3
Variant info Patients:0 exon 14 c.1913G>A r.(1913g>a) p.(Gly638Glu) potentially less severe Classic infantile Unknown 0
Variant info Patients:0 exon 14 c.1917G>A r.(1917g>a) p.(=) Non-pathogenic Unknown Unknown 0
Variant info Patients:0 exon 14 c.1920T>G r.(1920u>g) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 14 c.1921C>G r.(1921c>g) p.(Leu641Val) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 14 c.1923G>A r.(1923g>a) p.(=) Non-pathogenic Unknown Unknown 0
Variant info Patients:2 exon 14 c.1924G>T r.(1924g>u) p.(Val642Phe) Unknown Classic infantile Positive 2
Variant info Patients:1 exon 14 c.1925T>A r.(1925u>a) p.(Val642Asp) unknown Unknown (found only in NBS) Positive 1
Variant info Patients:34 exon 14 c.1927G>A r.[1927g>a, 1755_1928del, 1889_1928del] p.[Gly643Arg, Leu587_Ala644del, Glu630Gly*53] Potentially less severe Classic infantile Unknown 34
Variant info Patients:4 exon 14 c.1930_1936dup r.(1930_1936dup) p.(Val646Glyfs*93) Very severe Classic infantile Negative 4
Variant info Patients:1 exon 14 c.1930G>C r.(1930g>c) p.(Ala644Pro) Unknown Adult Positive 1
Variant info Patients:3 exon 14 c.1933G>C r.(1933g>c) p.(Asp645His) Potentially less severe Classic infantile Positive 3
Variant info Patients:19 exon 14 c.1933G>A r.(1933g>a) p.(Asp645Asn) Potentially less severe Classic infantile Positive 19
Variant info Patients:1 exon 14 c.1933G>T r.(1933g>u) p.(Asp645Tyr) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:104 exon 14 c.1935C>A r.(1935c>a) p.(Asp645Glu) Potentially less severe Classic infantile Positive 104
Variant info Patients:9 exon 14 c.1941C>G r.(1941c>g) p.(Cys647Trp) Potentially less severe Classic infantile Positive 9
Variant info Patients:24 exon 14 c.1942G>A r.(1942g>a) p.(Gly648Ser) Potentially less severe Classic infantile Unknown 24
Variant info Patients:2 exon 14 c.1943G>A r.(1943g>a) p.(Gly648Asp) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 14 c.1944_1950del r.(1944_1950del) p.(Phe649_Leu650del) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 14 c.1951_1952delinsT r.(1951_1952delinsu) p.(Gly651Serfs*45) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 exon 14 c.1952dup r.(1951del) p.(Asn652Glnfs*85) very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 14 c.1958C>A r.(1958c>a) p.(Thr653Asn) Unknown Unknown (found only in NBS) Positive 1
Variant info Patients:1 exon 14 c.1960T>C r.(1960u>c) p.(Ser654Pro) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 14 c.1961C>G r.(1961c>g) p.(Ser654*) very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 14 c.1962_1964del r.(1962_1964del) p.(Glu656del) Very severe Unknown Positive 1
Variant info Patients:0 exon 14 c.1971G>A r.(1971g>a) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:2 exon 14 c.1978C>T r.(1978c>u) p.(Arg660Cys) Potentially less severe Classic infantile Positive 2
Variant info Patients:6 exon 14 c.1979G>A r.(1979g>a) p.(Arg660His) Potentially less severe Childhood Positive 6
Variant info Patients:0 exon 14 c.1981T>G r.(1981u>g) p.(Trp661Gly) Potentially less severe Unknown Positive 0
Variant info Patients:2 exon 14 c.1987del r.(1987del) p.(Gln663Serfs*33) Very severe Classic infantile Negative 2
Variant info Patients:1 exon 14 c.1993G>A r.(1993g>a) p.(Gly665Arg) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 14 c.2003A>G r.(2003a>g) p.(Tyr668Cys) potentially less severe Unknown (found only in NBS) Positive 1
Variant info Patients:0 exon 14 c.2004C>A r.(2004c>a) p.(Tyr668*) very severe Unknown (disease-associated) Negative 0
Variant info Patients:1 exon 14 c.2012T>A r.(2012u>a) p.(Met671Lys) Unknown Unknown (disease-associated) Unknown 1
Variant info Patients:2 exon 14 c.2012T>G r.(2012u>g) p.(Met671Arg) Potentially less severe Classic infantile Unknown 2
Variant info Patients:10 exon 14 c.2014C>T r.(2014c>u) p.(Arg672Trp) Less severe childhood or adult Positive 10
Variant info Patients: exon 14 c.2015G>T r.(2015g>u) p.(Arg672Leu) Potentially less severe Unknown (disease-associated) Positive
Variant info Patients:6 exon 14 c.2015G>A r.(2015g>a) p.(Arg672Gln) Less severe Classic infantile or Childhood Unknown 6
Variant info Patients:1 exon 14 c.2020C>G r.(2020c>g) p.(His674Asp) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 14 c.2020C>T r.(2020c>u) p.(His674Tyr) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:7 exon 14 c.2024_2026del r.(2024_2026del) p.(Asn675del) Potentially less severe Classic infantile Positive 7
Variant info Patients:1 exon 14 c.2024A>G r.(2024a>g) p.(Asn675Ser) Potentially less severe Classic infantile Positive 1
Variant info Patients:2 exon 14 c.2040G>A r.[(2040g>a), r.(spl?)] p.[(=), p.?] Less severe Childhood Unknown 2
Variant info Patients:1 intron 14 c.2040+1G>T r.spl p.? Very severe Classic infantile Unknown 1
Variant info Patients:1 intron 14 c.2040+2dup r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 intron 14 c.2040+12G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2040+20A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2040+20A>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2040+22G>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 14 c.2040+29_2190-270del r.spl p.(Pro681_Glu730del) very severe Classic infantile Unknown 1
Variant info Patients:0 intron 14 c.2040+66C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2040+69A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2041-64G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 14 c.2041-61del r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 14 c.2041-2A>C r.spl p.? Very severe Classic infantile Unknown 2
Variant info Patients:0 intron 14 c.2041-2A>G r.spl p.? very severe Classic infantile Unknown 0
Variant info Patients:2 intron 14 c.2041-1G>A r.spl p.? Very severe Unknown (disease-associated) Unknown 2
Variant info Patients:1 exon 15 c.2045A>G r.(2045a>g) p.(Gln682Arg) Unknown Classic infantile Positive 1
Variant info Patients:1 exon 15 c.2051C>A r.(2051c>a) p.(Pro684Gln) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients: exon 15 c.2051C>G r.(2051c>g) p.(Pro684Arg) Potentially less severe Unknown (disease-associated) Unknown
Variant info Patients:0 exon 15 c.2051C>T r.(2051c>u) p.(Pro684Leu) potentially less severe Classic infantile Positive 0
Variant info Patients:1 exon 15 c.2055C>A r.(2055c>a) p.(Tyr685*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 15 c.2055C>G r.(2055c>g) p.(Tyr685*) very severe Unknown (found only in NBS) Negative 2
Variant info Patients:0 exon 15 c.2056_2057delinsCC r.(2056_2057delinscc) c.2056_2057delinsCC) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:0 exon 15 c.2061C>T r.(2061c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 15 c.2065G>A r.2065g>a p.(Glu689Lys) Non-pathogenic Unknown Positive 0
Variant info Patients:3 exon 15 c.2066_2070dup r.(2066_2070dup) p.(Ala691Serfs*7) Very severe Unknown (disease-associated) Negative 3

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