| 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 the following article if you use this database for research purposes: Niño, MY, in 't Groen, SL, Bergsma, AJ, 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 |
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www.pompecenter.nl |
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