Pompe disease GAA variant database
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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 15 c.2078dup r.(2078dup) p.(Ala694Glyfs*43) Very severe Classic infantile Negative 7
Variant info Patients:1 exon 15 c.2084dup r.(2084dup) p.(Met695Ilefs*42) very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 15 c.2096T>C r.(2096u>c) p.(Leu699Pro) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:0 exon 15 c.2097_2102del r.(2097_2102del) p.(Thr700_Leu701del) Potentially less severe Unknown Positive 0
Variant info Patients:6 exon 15 c.2104C>T r.(2104c>u) p.(Arg702Cys) Potentially less severe Classic infantile Positive 6
Variant info Patients:5 exon 15 c.2105G>A r.(2105g>a) p.(Arg702His) Potentially mild Classic infantile Positive 5
Variant info Patients:4 exon 15 c.2105G>T r.(2105g>u) p.(Arg702Leu) Potentially less severe Classic infantile Positive 4
Variant info Patients:2 exon 15 c.2109del r.(2109del) p.(Tyr703*) very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 exon 15 c.2114T>C r.(2114u>c) p.(Leu705Pro) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 15 c.2131A>C r.(2131a>c) p.(Thr711Pro) potentially less severe Classic infantile Positive 1
Variant info Patients:4 exon 15 c.2132C>G r.(2132c>g) p.(Thr711Arg) Non-pathogenic Classic infantile Unknown 4
Variant info Patients:0 exon 15 c.2133A>G r.2133a>g p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:4 exon 15 c.2135T>C r.(2135u>c) p.(Leu712Pro) Less severe Unknown (disease-associated) Positive 4
Variant info Patients:1 exon 15 c.2136_2137del r.(2136_2137del) p.(Phe713Profs*23) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 15 c.2140del r.(2140del) p.(His714Thrfs*50) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 15 c.2146G>C r.(2146g>c) p.(Ala716Pro) potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 15 c.2152G>A r.(2152g>a) p.(Val718Ile) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 15 c.2153_2156delinsACGCCG r.(2153_2156delinsacgccg) p.(Val718Aspfs*47) very severe Classic infantile Negative 1
Variant info Patients:0 exon 15 c.2154C>T r.(2154c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 15 c.2161dup r.(2161dup) p.(Glu721Glyfs*16) Very severe Unknown Negative 0
Variant info Patients:1 exon 15 c.2161G>T r.(2161g>u) p.(Glu721*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 15 c.2167G>A r.(2167g>a) p.(Val723Met) Unknown Childhood Positive 2
Variant info Patients:3 exon 15 c.2171C>A r.(2171c>a) p.(Ala724Asp) Unknown Classic infantile Positive 3
Variant info Patients:8 exon 15 c.2173C>T r.(2173c>u) p.(Arg725Trp) Less severe Childhood or Adult Positive 8
Variant info Patients:1 exon 15 c.2174G>C r.(2174g>c) p.(Arg725Pro) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 15 c.2174G>A r.(2174g>a) p.(Arg725Gln) unknown Unknown (found only in NBS) Positive 1
Variant info Patients:2 exon 15 c.2177C>G r.(2177c>g) p.(Pro726Arg) Unknown Childhood Positive 2
Variant info Patients:3 exon 15 c.2182_2183del r.(2182_2183del) p.(Phe728Profs*8) very severe Unknown (disease-associated) Negative 3
Variant info Patients:2 exon 15 c.2185del r.(2185del) p.(Leu729Trpfs*35) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 15 c.2188G>T r.(2188g>u) p.(Glu730*) Very severe Classic infantile Negative 2
Variant info Patients:0 intron 15 c.2189+1G>A r.spl p.? Very severe Unknown Unknown 0
Variant info Patients:2 intron 15 c.2189+3G>C r.(spl?) p.? Very severe Unknown (disease-associated) Unknown 2
Variant info Patients:0 intron 15 c.2189+95C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+263G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 15 c.2189+459_3405del r.spl p.? Very severe Classic infantile Positive 2
Variant info Patients:0 intron 15 c.2189+510T>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+607G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+616T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+723G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+729A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+859A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+884G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1153A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1201C>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1208A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1263A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1290A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2189+1600C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-1531G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-1463G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-1139A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-1005A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-686G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-647G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-536G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-490G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-444A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 15 c.2190-336C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:2 intron 15 c.2190-345A>G r.? p.? potentially less severe Unknown (disease-associated) Unknown 2
Variant info Patients:0 intron 15 c.2190-53C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 16 c.2205dup r.(2205dup) p.(Ser736*) very severe Classic infantile Negative 1
Variant info Patients:1 exon 16 c.2210C>A r.(2210c>a) p.(Thr737Asn) Potentially less severe Classic infantile Positive 1
Variant info Patients:2 exon 16 c.2213G>A r.(2213g>a) p.(Trp738*) very severe Classic infantile Negative 2
Variant info Patients:2 exon 16 c.2214G>A r.(2214g>a) p.(Trp738*) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:2 exon 16 c.2219_2220del r.(2219_2220del) p.(Val740Glyfs*55) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 16 c.2221G>A r.(2221g>a) p.(Asp741Asn) potentially less severe Classic infantile Positive 1
Variant info Patients:0 exon 16 c.2222A>T r.(2222a>u) p.(Asp741Val) potentially less severe Unknown (disease-associated) Unknown 0
Variant info Patients:0 exon 16 c.2227C>A r.(2227c>a) p.(Gln743Lys) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 16 c.2227C>T r.(2227c>u) p.(Gln743*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 16 c.2228A>G r.(2228a>g) p.(Gln743Arg) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 16 c.2234T>C r.(2234u>c) p.(Leu745Pro) potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 16 c.2235dup r.(2235dupg) p.(Trp746Valfs*50) very severe Classic infantile Unknown 1
Variant info Patients:3 exon 16 c.2236T>C r.(2236u>c) p.(Trp746Arg) Potentially less severe Classic infantile Positive 3
Variant info Patients:0 exon 16 c.2236T>G r.(2236u>g) p.(Trp746Gly) Potentially less severe Unknown Positive 0
Variant info Patients:1 exon 16 c.2237G>C r.(2237g>c) p.(Trp746Ser) Potentially less severe Childhood Positive 1
Variant info Patients:1 exon 16 c.2237G>T r.(2237g>u) p.(Trp746Leu) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:31 exon 16 c.2237G>A r.(2237g>a) p.(Trp746*) Very severe Classic infantile Negative 31
Variant info Patients:37 exon 16 c.2238G>C r.(2238g>c) p.(Trp746Cys) Potentially mild Childhood or adult Unknown 37
Variant info Patients:6 exon 16 c.2238G>A r.(2238g>a) p.(Trp746*) Very severe Classic infantile Negative 6
Variant info Patients:1 exon 16 c.2240G>A r.(2240g>a) p.(Gly747Glu) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:10 exon 16 c.2242dup r.(2242dup) p.(Glu748Glyfs*48) Very severe Classic infantile Negative 10
Variant info Patients:0 exon 16 c.2242G>T r.(2242g>u) p.(Glu748*) Very severe Unknown Negative 0
Variant info Patients:1 exon 16 c.2255_2257del r.(2255_2257del) p.(Ile752del) Unknown Unknown (disease-associated) Positive 1
Variant info Patients:2 exon 16 c.2261dup r.(2261dup) p.(Val755Serfs*41) very severe Unknown (disease-associated) Negative 2
Variant info Patients:3 exon 16 c.2269C>T r.(2269c>u) p.(Gln757*) Very severe Classic infantile Negative 3
Variant info Patients:1 exon 16 c.2274dup r.(2274dup) p.(Gly759Argfs*37) Very severe Classic infantile Negative 1
Variant info Patients:2 exon 16 c.2276G>C r.(2276g>c) p.(Gly759Ala) Potentially mild Unknown (disease-associated) Positive 2
Variant info Patients:2 exon 16 c.2281delinsAT r.(2281delinsau) p.(Ala761Ilefs*35) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:0 exon 16 c.2284G>A r.(2284g>a) p.(Glu762Lys) Unknown Unknown Unknown 0
Variant info Patients:0 exon 16 c.2294G>A r.(2294g>a) p.(Gly765Asp) potentially less severe Classic infantile Positive 0
Variant info Patients:0 exon 16 c.2296T>A r.(2296u>a) p.(Tyr766Asn) potentially less severe Classic infantile Positive 0
Variant info Patients: exon 16 c.2297A>C r.(2297a>c) p.(Tyr766Ser) Potentially less severe Classic infantile Positive
Variant info Patients:3 exon 16 c.2297A>G r.(2297a>g) p.(Tyr766Cys) Potentially less severe Childhood or adult Positive 3
Variant info Patients:3 exon 16 c.2298_2301delinsAAAGTA r.(2298_2301delinsaaagua) p.(Tyr766*) Very severe Unknown (disease-associated) Negative 3
Variant info Patients:2 exon 16 c.2300del r.(2300del) p.(Phe767Serfs*14) Very severe Unknown (disease-associated) Negative 2
Variant info Patients:1 exon 16 c.2303C>G r.(2303c>g) p.(Pro768Arg) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 16 c.2303C>T r.(2303c>u) p.(Pro768Leu) Potentially less severe Classic infantile Positive 1
Variant info Patients:1 exon 16 c.2304del r.(2304del) p.(Leu769Trpfs*12) very severe Unknown (disease-associated) Negative 1
Variant info Patients:2 exon 16 c.2314T>C r.(2314u>c) p.(Trp772Arg) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:0 exon 16 c.2320G>A r.(2320g>a) p.(Asp774Asn) potentially less severe Unknown (disease-associated) Unknown 0

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