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

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