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:1 GAA and part of CCDC40 Ch37/hg19:g.78,056,048_ 78,094,854delins14bp r.(-212_*551del) p.(0) Very severe Classic infantile Negative 1
Variant info Patients:1 CCDC40 and GAA exon 1 Ch37/hg19 chr17:78,059,821_ 78,076,592del r.0 p.? very severe Classic infantile Unknown 1
Variant info Patients:0 exon 1A, 5' UTR c.-338C>G r.(-338c>g) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 1A, 5' UTR c.-260G>C r.(-260g>c) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 1A, 5' UTR c.-178G>A r.(-178g>a) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:3 intron 1A c.-113+2T>C r.spl p.? Very severe Unknown (disease-associated) Unknown 3
Variant info Patients:0 exon 1B, 5' UTR c.-82G>C r.(-82g>c) p.? Unknown Unknown Positive 0
Variant info Patients:0 exon 1B, 5' UTR c.-75C>G r.(-75c>g) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+219G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+316C>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+317C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+671A>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+757G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+903A>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+1104A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+1172G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+1190G>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-33+1309T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-1298G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-1124C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-884T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-793C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-721G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-686A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-640C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-521G>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-494C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 1B c.-32-462G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 1B c.-32-17_-32-10delins(30) r.? p.? very severe Classic infantile Unknown 1
Variant info Patients:733 intron 1B c.-32-13T>G r.[=,-32_546del,-32_486del] p.[=,0] Potentially mild Childhood or Adult Positive 733
Variant info Patients:2 intron 1B c.-32-3C>G r.(=) p.? Less severe Unknown (disease-associated) Unknown 2
Variant info Patients:14 intron 1B c.-32-3C>A r.(=) p.? Less severe Childhood Unknown 14
Variant info Patients:3 intron 1B c.-32-2A>G r.spl p.? Very severe Childhood or Adult Unknown 3
Variant info Patients:1 intron 1B c.-32-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 2 c.1A>T r.(1a>u) p.(0) Potentially less severe Unknown Negative 0
Variant info Patients:6 exon 2 c.1A>G r.(1a>g) p.(0) Very severe Classic infantile or Childhood Negative 6
Variant info Patients:2 exon 2 c.2T>C r.(2u>c) p.(0) Potentially less severe Childhood Negative 2
Variant info Patients:1 exon 2 c.3G>A r.(3g>a) p.(0) Very severe Classic infantile or Childhood Negative 1
Variant info Patients:1 exon 2 c.18_25del r.(18_25del) p.(Cys8Profs*24) Very severe Classic infantile Negative 1
Variant info Patients:1 exon 2 c.25del r.(25del) p.(Ser9Profs*34) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 2 c.40_47del r.(40_47del) p.(Ala14Argfs*18) very severe Classic infantile Negative 1
Variant info Patients:0 exon 2 c.32G>A r.(32g>a) p.(Arg11Gln) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 2 c.54C>T r.(54c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 2 c.104T>C r.(104u>c) p.(Phe35Ser) Potentially less severe Classic infantile Positive 1
Variant info Patients:18 exon 2 c.118C>T r.(118c>u) p.(Arg40*) Very severe Classic infantile Negative 18
Variant info Patients:1 exon 2 c.136T>C r.(136u>c) p.(Ser46Pro) Non-pathogenic Classic infantile Positive 1
Variant info Patients:3 exon 2 c.147_859-12del r.spl p.? Very severe Classic infantile Negative 3
Variant info Patients:1 exon 2 c.169C>T r.(169c>u) p.(Gln57*) very severe Classic infantile Negative 1
Variant info Patients:3 exon 2 c.172C>T r.(172c>u) p.(Gln58*) Very severe Classic infantile Negative 3
Variant info Patients:0 exon 2 c.186_196dup r.(186_196dup) p.(Arg66Hisfs*80) Very severe Unknown Negative 0
Variant info Patients:1 exon 2 c.205C>T r.(205c>u) p.(Gln69*) very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 2 c.199G>A r.(199g>a) p.(Asp67Asn) Non-pathogenic Unknown Positive 0
Variant info Patients:0 exon 2 c.221G>A r.(221g>a) p.(Arg74His) Non-pathogenic Unknown Positive 0
Variant info Patients:13 exon 2 c.236_246del r.(236_246del) p.(Pro79Argfs*13) Very severe Classic infantile Negative 13
Variant info Patients:3 exon 2 c.241C>T r.(241c>u) p.(Gln81*) Very severe Unknown (disease-associated) Negative 3
Variant info Patients:4 exon 2 c.258dup r.(258dup) p.(Asn87Glnfs*9) Very severe Unknown (disease-associated) Negative 4
Variant info Patients:0 exon 2 c.258C>A r.(258c>a) p.? Unknown Unknown (disease-associated) Positive 0
Variant info Patients:0 exon 2 c.265C>T r.(265c>u) p.(Arg89Cys) potentially less severe Unknown (disease-associated) Positive 0
Variant info Patients:2 exon 2 c.266G>A r.(266g>a) p.(Arg89His) Presumably non-pathogenic Classic infantile Positive 2
Variant info Patients:2 exon 2 c.271G>A r.271g>a p.(Asp91Asn) Presumably non-pathogenic Unknown (disease-associated) Positive 2
Variant info Patients:3 exon 2 c.271del r.(271del) p.(Asp91Ilefs*51) Very severe Unknown (disease-associated) Negative 3
Variant info Patients:1 exon 2 c.295_314del r.(295_314del) p.(Thr99Profs*40) very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 2 c.307T>C r.(307u>c) p.(Cys103Arg) Potentially less severe Unknown Positive 0
Variant info Patients:19 exon 2 c.307T>G r.(307u>g) p.(Cys103Gly) Potentially less severe Classic infantile Positive 19
Variant info Patients: exon 2 c.309C>G r.(309c>g) p.(Cys103Trp) Potentially less severe Unknown Positive
Variant info Patients:1 exon 2 c.309C>A r.(309c>a) p.(Cys103*) Very severe Classic infantile Negative 1
Variant info Patients:1 exon 2 c.317G>A r.(317g>a) p.(Arg106His) potentially less severe Unknown (found only in NBS) Positive 1
Variant info Patients:0 exon 2 c.322T>G r.(322u>g) p.(Cys108Gly) Potentially less severe Unknown Unknown 0
Variant info Patients:2 exon 2 c.323G>A r.(323g>a) p.(Cys108Ser) Unknown Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 2 c.323G>C r.(323g>c) p.(Cys108Ser) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 2 c.324T>C r.324u>c p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:2 exon 2 c.340_341insT r.(340_341insu) p.(Lys114Ilefs*32) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 2 c.343C>T r.(343c>u) p.(Gln115*) Very severe Childhood or Adult Negative 2
Variant info Patients:1 exon 2 c.352C>T r.(352c>u) p.(Gln118*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 2 c.363G>A r.(363g>a) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:4 exon 2 c.364A>G r.(364a>g) p.(Met122Val) Less severe Unknown (disease-associated) Unknown 4
Variant info Patients:0 exon 2 c.365del r.(365del) p.(Met122Argfs*20) very severe Unknown (disease-associated) Negative 0
Variant info Patients:1 exon 2 c.365T>A r.(365u>a) p.(Met122Lys) unknown Unknown (found only in NBS) Positive 1
Variant info Patients:9 exon 2 c.377G>A r.(377g>a) p.(Trp126*) Very severe Classic infantile Negative 9
Variant info Patients:1 exon 2 c.378G>A r.(378g>a) p.(Trp126*) Very severe Classic infantile Negative 1
Variant info Patients:11 exon 2 c.379_380del r.(379_380del) p.(Cys127Leufs*18) Very severe Classic infantile Negative 11
Variant info Patients:1 exon 2 c.380G>A r.(380g>a) p.(Cys127Tyr) Potentially less severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 exon 2 c.380G>T r.(380g>u) p.(Cys127Phe) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 2 c.397T>G r.(397u>g) p.(Tyr133Asp) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 2 c.399C>A r.(399c>a) p.(Tyr133*) Very severe Classic infantile Negative 1
Variant info Patients:1 exon 2 c.421C>A r.(421c>a) p.(Leu141Met) Potentially less severe Classic infantile Positive 1
Variant info Patients:3 exon 2 c.424_440del r.(424_440del) p.(Ser142Lleufs*29) Very severe Unknown (found only in NBS) Negative 3
Variant info Patients:2 exon 2 c.437del r.(437del) p.(Met146Argfs*7) very severe Classic infantile Negative 2
Variant info Patients:1 exon 2 c.444C>G r.(444c>g) p.(Tyr148*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:1 exon 2 c.445A>C r.(445a>c) p.(Thr149Pro) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:0 exon 2 c.447G>A r.(447g>a) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:2 exon 2 c.460_465del r.(460_465del) p.(Arg154_Thr155del) Unknown Classic infantile Positive 2
Variant info Patients:1 exon 2 c.461G>C r.(461g>c) p.(Arg154Pro) Less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 2 c.461_469del r.(461_469del) p.(Arg154_Thr156del) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:5 exon 2 c.482_483del r.(482_483del) p.(Pro161Glnfs*15) Very severe Unknown (disease-associated) Negative 5
Variant info Patients:2 exon 2 c.483dup r.(483dup) p.(Lys162Glnfs*15) Very severe Classic infantile Negative 2
Variant info Patients:2 exon 2 c.484A>C r.(484a>c) p.(Lys162Gln) Potentially less severe Classic infantile Unknown 2
Variant info Patients:1 exon 2 c.502C>T r.(502c>u) p.(Arg168Trp) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:3 exon 2 c.503G>A r.(503g>a) p.(Arg168Gln) Unknown Childhood Unknown 3
Variant info Patients:2 exon 2 c.503G>C r.(503g>c) p.(Arg168Pro) Unknown Childhood Positive 2
Variant info Patients:1 exon 2 c.505C>A r.(505c>a) p.(Leu169Met) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 2 c.506T>C r.(506u>c) p.(Leu169Pro) Unknown Classic infantile Positive 1
Variant info Patients:0 exon 2 c.510C>T r.(510c>u) p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients: exon 2 c.517_519del r.(517_519del) p.(Met173del) Potentially less severe Childhood Positive
Variant info Patients:154 exon 2 c.525del r.(525del) p.(Glu176Argfs*45) Very severe Classic infantile Negative 154
Variant info Patients:4 exon 2 c.525_526del r.(525_526del) p.(Asn177Profs*11) Very severe Classic infantile Negative 4
Variant info Patients:0 exon 2 c.532C>T r.(532c>u) p.(Arg178Cys) Non-pathogenic Unknown Positive 0
Variant info Patients:2 exon 2 c.533G>A r.(533g>a) p.(Arg178His) Unknown Unknown (found only in NBS) Positive 2
Variant info Patients:0 exon 2 c.541_545del r.(541_545del) p.(Phe181Aspfs*6) very severe Classic infantile Unknown 0
Variant info Patients:3 exon 2 c.546G>A r.[(546g>a), r.(spl?)] p.[(=), p.?] Potentially mild Adult Unknown 3
Variant info Patients:21 exon 2 c.546G>T r.[-32_546del,546g>u,546g>u; 546_547ins546+1_546+184] p.[=,0, Ile183Valfs*67] Potentially mild Childhood or Adult Unknown 21
Variant info Patients:2 exon 2 c.546G>C r.[(546g>c), r.(spl?)] p.[(=), p.?] Potentially mild Unknown (disease-associated) Unknown 2
Variant info Patients:3 intron 2 c.546+1G>T r.spl p.? Very severe Unknown (disease-associated) Unknown 3
Variant info Patients:1 intron 2 c.546+2T>C r.spl p.? Very severe Classic infantile Negative 1
Variant info Patients:5 intron 2 c.546+2_546+5del r.spl p.? Very severe Classic infantile Negative 5
Variant info Patients:2 intron 2 c.546+5G>T r.(spl?) p.? Unknown Unknown (found only in NBS) Unknown 2
Variant info Patients:0 intron 2 c.546+24G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.546+45G>C r.(=) p.? Unknown Unknown Positive 0
Variant info Patients:0 intron 2 c.546+293G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-243C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-238T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-67C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-39T>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 2 c.547-4C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:1 intron 2 c.547-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 3 c.568C>T r.(568c>u) p.(Arg190Cys) potentially less severe Unknown (disease-associated) Unknown 0
Variant info Patients:6 exon 3 c.569G>A r.(569g>a) p.(Arg190His) Less severe Childhood Positive 6
Variant info Patients:1 exon 3 c.572A>G r.(572a>g) p.(Tyr191Cys) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:7 exon 3 c.573C>A r.(573c>a) p.(Tyr191*) Very severe Classic infantile Negative 7
Variant info Patients:0 exon 3 c.596A>G r.(596a>g) p.(His199Arg) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 3 c.623T>C r.(623u>c) p.(Leu208Pro) Potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 3 c.634G>T r.(634g>u) p.(Glu212*) Very severe Unknown (disease-associated) Negative 1
Variant info Patients:0 exon 3 c.642C>T r.642c>u p.(=) Non-pathogenic Unknown Positive 0
Variant info Patients:1 exon 3 c.650C>T r.(650c>u) p.(Pro217Leu) Less severe Classic infantile Positive 1
Variant info Patients:22 exon 3 c.655G>A r.(655g>a) p.(Gly219Arg) Potentially less severe Classic infantile Positive 22
Variant info Patients:0 exon 3 c.658G>T r.(658g>u) p.(Val220Leu) Non-pathogenic Unknown Positive 0
Variant info Patients:16 exon 3 c.664G>A r.(664g>a) p.(Val222Met) Non-pathogenic Unknown Positive 16
Variant info Patients:0 exon 3 c.665T>G r.(665u>g) p.(Val222Gly) potentially less severe Classic infantile Positive 0
Variant info Patients:0 exon 3 c.668G>A r.668g>a p.(Arg223His) Non-pathogenic Unknown Positive 0
Variant info Patients:7 exon 3 c.670C>T r.(670c>u) p.(Arg224Trp) Less severe Classic infantile or Childhood Positive 7
Variant info Patients:2 exon 3 c.671G>C r.(671g>c) p.(Arg224Pro) Potentially less severe Unknown (disease-associated) Positive 2
Variant info Patients:1 exon 3 c.671G>A r.(671g>a) p.(Arg224Gln) Potentially less severe Adult Positive 1
Variant info Patients:2 exon 3 c.685_686insCGGC r.(685_686inscggc) p.(Arg229Profs*102) Very severe Classic infantile Negative 2
Variant info Patients:1 exon 3 c.686G>C r.(686g>c) p.(Arg229Pro) potentially less severe Unknown (disease-associated) Positive 1
Variant info Patients:1 exon 3 c.692T>C r.(692u>c) p.(Leu231Pro) very severe Unknown (disease-associated) Unknown 1
Variant info Patients:2 intron 3 c.692+1G>C r.spl p.? Very severe Unknown (disease-associated) Unknown 2
Variant info Patients:1 intron 3 c.692+1G>T r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:1 intron 3 c.692+1G>A r.spl p.? Very severe Classic infantile Unknown 1
Variant info Patients:3 intron 3 c.692+5G>T r.(spl?) p.? Less severe Childhood or adult Unknown 3
Variant info Patients:0 exon 3 c.691C>T r.(691c>u) p.(Arg190Cys) very severe Unknown (disease-associated) Unknown 0
Variant info Patients:0 intron 3 c.692+38C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+144A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+509T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+674G>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.692+751T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-586G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-585T>C r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-559C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-491G>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-441C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-434C>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-414C>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-413A>G r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-216T>A r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-94C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-78C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-49C>T r.(=) p.? Non-pathogenic Unknown Positive 0
Variant info Patients:0 intron 3 c.693-2A>C r.spl p.? very severe Classic infantile Unknown 0
Variant info Patients:1 intron 3 c.693-1G>C r.spl p.? very severe Unknown (disease-associated) Unknown 1
Variant info Patients:0 exon 4 c.701C>G r.(701c>g) p.(Thr234Arg) Potentially less severe Unknown Positive 0