| Link to variant | Link to patients | Location | DNA nomenclature | RNA nomenclature | Protein nomenclature | Predicted severity | Phenotype with null allele | CRIM status | |
|---|---|---|---|---|---|---|---|---|---|
| Variant info |
exon 16
|
c.2322_2323insggtgagtctgcaaacggggagt | r.(2322_2323insggugagucugcaaacggggagu) | p.(Asp774Glufs*14) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 16
|
c.2326C>T | r.(2326c>u) | p.(Gln776*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
intron 16
|
c.2331+1G>A | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 16
|
c.2331+2T>C | r.2316_2331del | p.(Tyr773fs*3) | Very severe | Classic infantile | Unknown | ||
| Variant info |
intron 16
|
c.2331+2T>A | r.[2315_2331delins2332-109_2332-1 ,2315_2331del] | p.[Trp772Cysfs*40, Trp772Cysfs*18] | Very severe | Classic infantile | Negative | ||
| Variant info |
intron 16
|
c.2331+4A>G | r.(spl?) | p.? | Less severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 16
|
c.2331+5G>C | r.(spl?) | p.? | very severe | Classic infantile | Unknown | ||
| Variant info |
intron 16
|
c.2331+20G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 16
|
c.2331+24T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 16
|
c.2331+102del | r.?) | p.? | presumably non pathogenic | Unknown (disease-associated) | Positive | ||
| Variant info |
intron 16
|
c.2331+151C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 16
|
c.2332-198A>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 17
|
c.2334_2335dup | r.(2334_2335dup) | p.(Pro779Argfs*3) | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 17
|
c.2338G>A | r.2338g>a | p.(Val780Ile) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 17
|
c.2357dup | r.(2357dup) | p.(Pro788Thrfs*8) | Very severe | Unknown | Negative | ||
| Variant info |
exon 17
|
c.2373_2376delinsTGCTCA | r.(2373_2376delinsugcuca) | p.(Pro793Hisfs*14) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 17
|
c.2377_2378insAC | r.(2377_2378insAC) | p.(Pro793Hisfs*14) | very severe | Classic infantile | Unknown | ||
| Variant info |
exon 17
|
c.2380del | r.(2380del) | p.(Arg794fs*12) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 17
|
c.2380dup | r.(2380dup) | p.(Arg794Profs*2) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 17
|
c.2385del | r.(2385del) | p.(Glu795Aspfs*11) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 17
|
c.2395C>G | r.(2395c>g) | p.(His799Asp) | Unknown | Unknown | Positive | ||
| Variant info |
exon 17
|
c.2395C>T | r.(2395c>u) | p.(His799Tyr) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 17
|
c.2407_2412del | r.(2407_2412del) | p.(Gln803_Trp804del) | Unknown | Childhood | Positive | ||
| Variant info |
exon 17
|
c.2407C>T | r.(2407c>u) | p.(Gln803*) | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 17
|
c.2408_2426del | r.(2408_2426del) | p.(Gln803Profs*39) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 17
|
c.2411G>A | r.(2411g>a) | p.(Trp804*) | very severe | Classic infantile | Unknown | ||
| Variant info |
exon 17
|
c.2431dup | r.(2431dup) | p.(Leu811Profs*73) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 17
|
c.2431del | r.(2431del) | p.(Leu811Trpfs*37) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 17
|
c.2432del | r.(2432del) | p.(Leu811fs*36) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 17
|
c.2439dup | r.(2439dup) | p.(Ile814Hisfs*70) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 17
|
c.2446G>A | r.2446g>a | p.(Val816Ile) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 17
|
c.2456G>C | r.(2456g>c) | p.(Arg819Pro) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 17
|
c.2459_2461del | r.(2459_2461del) | p.(Ala820del) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 17
|
c.2460dup | r.(2460dup) | p.(Gly821Trpfs*63) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 17
|
c.2474C>G | r.(2474c>g) | p.(Pro825Arg) | Potentially less severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 17
|
c.2480A>G | r.(2480a>g) | p.(Gln827Arg) | potentially less severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 17
|
c.2481+1G>A | r.spl | p.? | Very severe | Childhood | Unknown | ||
| Variant info |
intron 17
|
c.2481+2T>C | r.[2331_2332ins2332-109_2332-1; 2462_2481del, 2462_2481del, 2332_2481del] | p.[Val778AlaSerTer, Tyr822Profs*55, Val778_Gln827del] | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 17
|
c.2481+102_2646+31del | r.2482_2646del | p.(Gly828_Asn882del) | Very severe | Classic infantile | Positive | ||
| Variant info |
intron 17
|
c.2482-132C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 17
|
c.2482-5T>C | r.? | p.? | unknown | Unknown (found only in NBS) | Positive | ||
| Variant info |
intron 17
|
c.2482-2A>G | r.spl | p.? | unknown | Unknown (found only in NBS) | Unknown | ||
| Variant info |
exon 18
|
c.2495_2496del | r.(2495_2496del) | p.(Thr832Asnfs*51) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 18
|
c.2501_2502del | r.(2501_2502del) | p.(Thr834Argfs*49) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 18
|
c.2512C>T | r.(2512c>u) | p.(Gln838*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 18
|
c.2515C>T | r.(2515c>u) | p.(Gln839*) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 18
|
c.2528T>C | r.(2528u>c) | p.(Leu843Pro) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 18
|
c.2530_2541del | r.(2530_2541del) | p.(Arg844_Leu847del) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 18
|
c.2537C>A | r.(2537c>a) | p.(Ala846Asp) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 18
|
c.2544del | r.(2544del) | p.(Lys849Argfs*38) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 18
|
c.2553G>A | r.2553g>a | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 18
|
c.2560C>T | r.(2560c>u) | p.(Arg854*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 18
|
c.2563G>C | r.(2563g>c) | p.(Gly855Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 18
|
c.2578G>A | r.(2578g>a) | p.(Asp860Asn) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 18
|
c.2584G>A | r.(2584g>a) | p.(Gly862Arg) | Potentially less severe | Childhood | Positive | ||
| Variant info |
exon 18
|
c.2585del | r.(2585del) | p.(Gly862Glufs*25) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 18
|
c.2596del | r.(2596del) | p.(Glu866Lysfs*21) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 18
|
c.2600_2604delinsA | r.(2600_2604delinsa) | p.(Val867Glufs*19) | Very severe | Classic infantile or Childhood | Negative | ||
| Variant info |
exon 18
|
c.2605del | r.(2605del) | p.(Glu869Serfs*18) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 18
|
c.2608C>T | r.(2608c>u) | p.(Arg870*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 18
|
c.2619C>G | r.(2619c>g) | p.(Tyr873*) | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 18
|
c.2636T>C | r.(2636u>c) | p.(Leu879Pro) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 18
|
c.2639C>A | r.(2639c>a) | p.(Ala880Asp) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 18
|
c.2646_2646+1del | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 18
|
c.2646+2T>A | r.spl | p.? | Very severe | Classic infantile | Negative | ||
| Variant info |
intron 18
|
c.2646+39G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 18
|
c.2647-71G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 18
|
c.2647-23del | r.? | p.? | unknown | Unknown (found only in NBS) | Positive | ||
| Variant info |
intron 18
|
c.2647-20T>G | r.(spl?) | p.? | Unknown | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 18
|
c.2647-7G>A | r.(spl?) | p.? | Potentially mild | Adult | Unknown | ||
| Variant info |
exon 19
|
c.2655_2656del | r.(2655_2656del) | p.(Val886Glufs*2) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 19
|
c.2662G>T | r.(2662g>u) | p.(Glu888*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 19
|
c.2702T>A | r.(2702u>a) | p.(Leu901Gln) | Potentially less severe | Childhood | Positive | ||
| Variant info |
exon 19
|
c.2706del | r.(2706del) | p.(Lys903Argfs*2) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 19
|
c.2707_2709del | r.(2707_2709del) | p.(Lys903del) | Very severe | Classic infantile | Positive | ||
| Variant info |
exon 19
|
c.2716G>A | r.(2716g>a) | p.(Val906Ile) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 19
|
c.2720T>C | r.(2720u>c) | p.(Leu907Pro) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 19
|
c.2724C>G | r.(2724c>g) | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 19
|
c.2725G>A | r.(2725g>a) | p.(Val909Met) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 19
|
c.2738C>G | r.(2738c>g) | p.(Pro913Arg) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 19
|
c.2740dup | r.(2740dup) | p.(Gln914Profs*104) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 19
|
c.2741delinsCAG | r.(2741delinscag) | p.(Gln914fs*30) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 19
|
c.2742dup | r.(2742dup) | p.(Gln915Alafs*103) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 19
|
c.2744A>C | r.(2744a>c) | p.(Gln915Pro) | Unknown | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 19
|
c.2746G>T | r.(2746g>u) | p.(Val916Phe) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 19
|
c.2757del | r.(2757del) | p.(Asn919Lysfs*24) | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 19
|
c.2758_2775dup | r.(2758_2775dup) | p.(ly920_Asn925dup) | Very severe | Classic infantile | Positive | ||
| Variant info |
exon 19
|
c.2770T>C | r.(2770u>c) | p.(Ser924Pro) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 19
|
c.2780C>T | r.2780c>u | p.(Thr927Ile) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 19
|
c.2783A>G | r.(2783a>g) | p.(Tyr928Cys) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
intron 19
|
c.2799+4A>G | r.(spl?) | p.? | Unknown | Adult | Unknown | ||
| Variant info |
intron 19
|
c.2799+5G>A | r.(spl?) | p.? | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 19
|
c.2800-60G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 19
|
c.2800-227C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 19
|
c.2800-4C>G | r.(=) | p.? | Unknown | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 19
|
c.2800-1G>C | r.spl | p.? | very severe | Classic infantile | Unknown | ||
| Variant info |
exon 20
|
c.2804T>C | r.(2804u>c) | p.(Leu935Pro) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 20
|
c.2808C>T | r.(2808c>u) | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 20
|
c.2815_2816del | r.(2815_2816del) | p.(Val939Leufs*78) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 20
|
c.2843dup | r.(2843dup) | p.(Val949Argfs*69) | very severe | Classic infantile | 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 |
|
www.pompecenter.nl |
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