| Link to variant | Link to patients | Location | DNA nomenclature | RNA nomenclature | Protein nomenclature | Predicted severity | Phenotype with null allele | CRIM status | |
|---|---|---|---|---|---|---|---|---|---|
| Variant info |
exon 4
|
c.827_845del | r.(827_845del) | p.(Ile276Thrfs*32) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 4
|
c.829_851del | r.(829_851del) | p.(Thr277Alafs*45) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 4
|
c.836G>A | r.(836g>a) | p.(Trp279*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 4
|
c.837G>C | r.(837g>c) | p.(Trp279Cys) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.841C>T | r.(841c>u) | p.(Arg281Trp) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.844G>C | r.(844g>c) | p.(Asp282His) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.852G>A | r.(852g>a) | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 4
|
c.853C>T | r.(853c>u) | p.(Pro285Ser) | Less severe | Childhood or Adult | Positive | ||
| Variant info |
exon 4
|
c.854C>G | r.(854c>g) | p.(Pro285Arg) | Potentially mild | Childhood | Positive | ||
| Variant info |
intron 4
|
c.858+2T>A | r.spl | p.? | Very severe | Classic infantile or Childhood | Negative | ||
| Variant info |
intron 4
|
c.858+5_858+6ins7 | r.(spl?) | p.? | Unknown | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+6G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+17_858+23del | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+20dup | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+21C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+17_858+23dup | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+30T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+37C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.859-2A>T | r.spl | p.? | Very severe | Classic infantile | Unknown | ||
| Variant info |
exon 5
|
c.861C>T | r.(861c>u) | p.(=) | Potentially less severe | Childhood | Positive | ||
| Variant info |
exon 5
|
c.868A>G | r.(868a>g) | p.(Asn290Asp) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 5
|
c.871C>T | r.(871c>u) | p.(Leu291Phe) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.872T>A | r.(872u>a) | p.(Leu291His) | Less severe | Unknown | Positive | ||
| Variant info |
exon 5
|
c.872T>C | r.(872u>c) | p.(Leu291Pro) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.875A>G | r.(875a>g) | p.(Tyr292Cys) | Potentially mild | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.876C>G | r.(876c>g) | p.(Tyr292*) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 5
|
c.877G>A | r.(877g>a) | p.(Gly293Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.878G>T | r.(878g>u) | p.(Gly293Val) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.883C>A | r.(883c>a) | p.(His295Asn) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.885C>G | r.(885c>g) | p.(His295Gln) | Potentially mild | Adult | Unknown | ||
| Variant info |
exon 5
|
c.893A>C | r.(893a>c) | p.(Tyr298Ser) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.896T>G | r.(896u>g) | p.(Leu299Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.896T>C | r.(896u>c) | p.(Leu299Pro) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.915G>A | r.(915g>a) | p.(=) | Non-pathogenic | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.917C>T | r.(917c>u) | p.(Ser306Leu) | Presumably non-pathogenic | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.921A>T | r.921a>u | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 5
|
c.923A>C | r.(923a>c) | p.(His308Pro) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.923A>T | r.(923a>u) | p.(His308Leu) | Less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.925G>A | r.(925g>a) | p.(Gly309Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.929T>G | r.(929u>g) | p.(Val310Gly) | Less severe | Unknown | Positive | ||
| Variant info |
exon 5
|
c.930_932del | r.(930_932del) | p.(Phe311del) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.935T>G | r.(935u>g) | p.(Leu312Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.942C>A | r.(942c>a) | p.Asn314Lys | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.947A>T | r.(947a>u) | p.(Asn316Ile) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 5
|
c.947A>G | r.(947a>g) | p.(Asn316Ser) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.950C>T | r.(950c>u) | p.(Ala317Val) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.953T>C | r.(953u>c) | p.(Met318Thr) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.953T>A | r.(953u>a) | p.(Met318Lys) | Potentially less severe | Childhood | Positive | ||
| Variant info |
exon 5
|
c.955_955+1ins21 | r.[(955_956ins21), (spl?)] | p.? | Unknown | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 5
|
c.955+1G>A | r.spl | p.? | very severe | Classic infantile | Unknown | ||
| Variant info |
intron 5
|
c.955+155C>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 5
|
c.955+167C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 5
|
c.956-107G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 5
|
c.955+2T>G | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 5
|
c.955+12G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 5
|
c.956-84C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 6
|
c.971C>T | r.(971c>u) | p.(Pro324Leu) | Less severe | Childhood | Positive | ||
| Variant info |
exon 6
|
c.971dup | r.(971dup) | p.(Pro324Argfs*68) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 6
|
c.982_988del | r.(982_988del) | p.(Leu328Glyfs*62) | very severe | Classic infantile | Unknown | ||
| Variant info |
exon 6
|
c.983T>C | r.(983u>c) | p.(Leu328Pro) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 6
|
c.988T>G | r.(988u>g) | p.(Trp330Gly) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 6
|
c.989G>A | r.(989g>a) | p.(Trp330*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.994_995insTT | r.(994_995insuu) | p.(Ser332Phefs*61) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.998C>A | r.(998c>a) | p.(Thr333Lys) | Unknown | Classic infantile | Positive | ||
| Variant info |
exon 6
|
c.1000G>A | r.(1000g>a) | p.(Gly334Ser) | Unknown | Childhood | Positive | ||
| Variant info |
exon 6
|
c.1000G>T | r.(1000g>u) | p.(Gly334Ser) | potentially less severe | Classic infantile | Unknown | ||
| Variant info |
exon 6
|
c.1003G>A | r.(1003g>a) | p.(Gly335Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 6
|
c.1004G>A | r.(1004g>a ) | p.(Gly335Glu) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 6
|
c.1004_1005dup | r.(1004_1005dup) | p.(Ile336Glyfs*57) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.1040C>G | r.(1040c>g) | p.(Pro347Arg) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 6
|
c.1047del | r.(1047del) | p.(Ser349Argfs*43) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.1048G>A | r.(1048g>a) | p.(Val350Met) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 6
|
c.1051del | r.(1051del) | p.(Val351Cysfs*41) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.1054C>T | r.(1054c>u) | p.(Gln352*) | very severe | Unknown (found only in NBS) | Negative | ||
| Variant info |
exon 6
|
c.1057C>T | r.(1057c>u) | p.(Gln353*) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.1057del | r.(1057del) | p.(Gln353Serfs*39) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.1062C>G | r.(1062c>g) | p.(Tyr354*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 6
|
c.1064T>C | r.(1064u>c) | p.(Leu355Pro) | Potentially less severe | Classic infantile or Childhood | Positive | ||
| Variant info |
exon 6
|
c.1075G>A | r.[1075g>a, 1072_1075del] | p.[(Gly359Arg), (Val358Aspfs*33)] | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 6
|
c.1075G>T | r.[(1075g>u), r.(spl?)] | p.[(Ily359*), p.?] | Very severe | Classic infantile | Negative | ||
| Variant info |
intron 6
|
c.1075+13C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 6
|
c.1076-22T>G | r.(spl?) | p.? | Potentially mild | Childhood | Unknown | ||
| Variant info |
intron 6
|
c.1076-1G>A | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 6
|
c.1076-1G>C | r.spl | p.? | Very severe | Classic infantile | Unknown | ||
| Variant info |
exon 7
|
c.1080C>G | r.(1080c>g) | p.(Tyr360*) | Very severe | Unknown (found only in NBS) | Negative | ||
| Variant info |
exon 7
|
c.1082C>T | r.(1082c>u) | p.(Pro361Leu) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 7
|
c.1082C>A | r.(1082c>a) | p.(Pro361Arg) | potentially less severe | Unknown (found only in NBS) | Positive | ||
| Variant info |
exon 7
|
c.1099T>C | r.(1099u>c) | p.(Trp367Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 7
|
c.1099T>G | r.(1099u>g) | p.(Trp367Gly) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1100G>A | r.(1100g>a) | p.(Trp367*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 7
|
c.1101G>A | r.(1101g>a) | p.(Trp367*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 7
|
c.1106T>C | r.(1106u>c) | p.(Leu369Pro) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1106T>A | r.(1106u>a) | p.(Leu369Gln) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1108G>A | r.(1108g>a) | p.(Gly370Ser) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1109G>A | r.(1109g>a) | p.(Gly370Asp) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1114C>G | r.(1114c>g) | p.(His372Asp) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1114C>T | r.(1114c>u) | p.(His372Tyr) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1115A>T | r.(1115a>u) | p.(His372Leu) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 7
|
c.1118T>G | r.(1118u>g ) | p.(Leu373Arg) | Unknown | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 7
|
c.1120T>C | r.(1120u>c) | p.(Cys374Arg) | Potentially less severe | Classic infantile | Positive |
|
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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