| Link to variant | Link to patients | Location | DNA nomenclature | RNA nomenclature | Protein nomenclature | Predicted severity | Phenotype with null allele | CRIM status | |
|---|---|---|---|---|---|---|---|---|---|
| Variant info |
exon 15
|
c.2078dup | r.(2078dup) | p.(Ala694Glyfs*43) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 15
|
c.2084dup | r.(2084dup) | p.(Met695Ilefs*42) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 15
|
c.2096T>C | r.(2096u>c) | p.(Leu699Pro) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 15
|
c.2097_2102del | r.(2097_2102del) | p.(Thr700_Leu701del) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 15
|
c.2104C>T | r.(2104c>u) | p.(Arg702Cys) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 15
|
c.2105G>A | r.(2105g>a) | p.(Arg702His) | Potentially mild | Classic infantile | Positive | ||
| Variant info |
exon 15
|
c.2105G>T | r.(2105g>u) | p.(Arg702Leu) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 15
|
c.2109del | r.(2109del) | p.(Tyr703*) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 15
|
c.2114T>C | r.(2114u>c) | p.(Leu705Pro) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 15
|
c.2131A>C | r.(2131a>c) | p.(Thr711Pro) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 15
|
c.2132C>G | r.(2132c>g) | p.(Thr711Arg) | Non-pathogenic | Classic infantile | Unknown | ||
| Variant info |
exon 15
|
c.2133A>G | r.2133a>g | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 15
|
c.2135T>C | r.(2135u>c) | p.(Leu712Pro) | Less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 15
|
c.2136_2137del | r.(2136_2137del) | p.(Phe713Profs*23) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 15
|
c.2140del | r.(2140del) | p.(His714Thrfs*50) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 15
|
c.2146G>C | r.(2146g>c) | p.(Ala716Pro) | potentially less severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 15
|
c.2152G>A | r.(2152g>a) | p.(Val718Ile) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 15
|
c.2153_2156delinsACGCCG | r.(2153_2156delinsacgccg) | p.(Val718Aspfs*47) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 15
|
c.2154C>T | r.(2154c>u) | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 15
|
c.2161dup | r.(2161dup) | p.(Glu721Glyfs*16) | Very severe | Unknown | Negative | ||
| Variant info |
exon 15
|
c.2161G>T | r.(2161g>u) | p.(Glu721*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 15
|
c.2167G>A | r.(2167g>a) | p.(Val723Met) | Unknown | Childhood | Positive | ||
| Variant info |
exon 15
|
c.2171C>A | r.(2171c>a) | p.(Ala724Asp) | Unknown | Classic infantile | Positive | ||
| Variant info |
exon 15
|
c.2173C>T | r.(2173c>u) | p.(Arg725Trp) | Less severe | Childhood or Adult | Positive | ||
| Variant info |
exon 15
|
c.2174G>C | r.(2174g>c) | p.(Arg725Pro) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 15
|
c.2174G>A | r.(2174g>a) | p.(Arg725Gln) | unknown | Unknown (found only in NBS) | Positive | ||
| Variant info |
exon 15
|
c.2177C>G | r.(2177c>g) | p.(Pro726Arg) | Unknown | Childhood | Positive | ||
| Variant info |
exon 15
|
c.2182_2183del | r.(2182_2183del) | p.(Phe728Profs*8) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 15
|
c.2185del | r.(2185del) | p.(Leu729Trpfs*35) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 15
|
c.2188G>T | r.(2188g>u) | p.(Glu730*) | Very severe | Classic infantile | Negative | ||
| Variant info |
intron 15
|
c.2189+1G>A | r.spl | p.? | Very severe | Unknown | Unknown | ||
| Variant info |
intron 15
|
c.2189+3G>C | r.(spl?) | p.? | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 15
|
c.2189+95C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+263G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+459_3405del | r.spl | p.? | Very severe | Classic infantile | Positive | ||
| Variant info |
intron 15
|
c.2189+510T>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+607G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+616T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+723G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+729A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+859A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+884G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+1153A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+1201C>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+1208A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+1263A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+1290A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2189+1600C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2190-1531G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2190-1463G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2190-1139A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2190-1005A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2190-686G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2190-647G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2190-536G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2190-490G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2190-444A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2190-336C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 15
|
c.2190-345A>G | r.? | p.? | potentially less severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 15
|
c.2190-53C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 16
|
c.2205dup | r.(2205dup) | p.(Ser736*) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 16
|
c.2210C>A | r.(2210c>a) | p.(Thr737Asn) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 16
|
c.2213G>A | r.(2213g>a) | p.(Trp738*) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 16
|
c.2214G>A | r.(2214g>a) | p.(Trp738*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 16
|
c.2219_2220del | r.(2219_2220del) | p.(Val740Glyfs*55) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 16
|
c.2221G>A | r.(2221g>a) | p.(Asp741Asn) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 16
|
c.2222A>T | r.(2222a>u) | p.(Asp741Val) | potentially less severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 16
|
c.2227C>A | r.(2227c>a) | p.(Gln743Lys) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 16
|
c.2227C>T | r.(2227c>u) | p.(Gln743*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 16
|
c.2228A>G | r.(2228a>g) | p.(Gln743Arg) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 16
|
c.2234T>C | r.(2234u>c) | p.(Leu745Pro) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 16
|
c.2235dup | r.(2235dupg) | p.(Trp746Valfs*50) | very severe | Classic infantile | Unknown | ||
| Variant info |
exon 16
|
c.2236T>C | r.(2236u>c) | p.(Trp746Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 16
|
c.2236T>G | r.(2236u>g) | p.(Trp746Gly) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 16
|
c.2237G>C | r.(2237g>c) | p.(Trp746Ser) | Potentially less severe | Childhood | Positive | ||
| Variant info |
exon 16
|
c.2237G>T | r.(2237g>u) | p.(Trp746Leu) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 16
|
c.2237G>A | r.(2237g>a) | p.(Trp746*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 16
|
c.2238G>C | r.(2238g>c) | p.(Trp746Cys) | Potentially mild | Childhood or adult | Unknown | ||
| Variant info |
exon 16
|
c.2238G>A | r.(2238g>a) | p.(Trp746*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 16
|
c.2240G>A | r.(2240g>a) | p.(Gly747Glu) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 16
|
c.2242dup | r.(2242dup) | p.(Glu748Glyfs*48) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 16
|
c.2242G>T | r.(2242g>u) | p.(Glu748*) | Very severe | Unknown | Negative | ||
| Variant info |
exon 16
|
c.2255_2257del | r.(2255_2257del) | p.(Ile752del) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 16
|
c.2261dup | r.(2261dup) | p.(Val755Serfs*41) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 16
|
c.2269C>T | r.(2269c>u) | p.(Gln757*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 16
|
c.2274dup | r.(2274dup) | p.(Gly759Argfs*37) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 16
|
c.2276G>C | r.(2276g>c) | p.(Gly759Ala) | Potentially mild | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 16
|
c.2281delinsAT | r.(2281delinsau) | p.(Ala761Ilefs*35) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 16
|
c.2284G>A | r.(2284g>a) | p.(Glu762Lys) | Unknown | Unknown | Unknown | ||
| Variant info |
exon 16
|
c.2294G>A | r.(2294g>a) | p.(Gly765Asp) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 16
|
c.2296T>A | r.(2296u>a) | p.(Tyr766Asn) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 16
|
c.2297A>G | r.(2297a>g) | p.(Tyr766Cys) | Potentially less severe | Childhood or adult | Positive | ||
| Variant info |
exon 16
|
c.2297A>C | r.(2297a>c) | p.(Tyr766Ser) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 16
|
c.2298_2301delinsAAAGTA | r.(2298_2301delinsaaagua) | p.(Tyr766*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 16
|
c.2300del | r.(2300del) | p.(Phe767Serfs*14) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 16
|
c.2303C>G | r.(2303c>g) | p.(Pro768Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 16
|
c.2303C>T | r.(2303c>u) | p.(Pro768Leu) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 16
|
c.2304del | r.(2304del) | p.(Leu769Trpfs*12) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 16
|
c.2314T>C | r.(2314u>c) | p.(Trp772Arg) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 16
|
c.2320G>A | r.(2320g>a) | p.(Asp774Asn) | potentially less 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 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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