Pompe disease GAA variant database
Displaying 1151 - 1200 of 2717
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patients 		Allele 1 DNA Allele 2
Location 		Allele 2 DNA Allele 2
Phenotype with a null allele 		Phenotype
of patient 		Age of
Onset 		Gender Age at
analysis 		Cardiomyopathy Liver/
Spleen 		Ventilatory
support 		Respiratory
problems 		Wheelchair
dependency 		Mobility
problems 		(Kypho)
Scoliosis 		Ptosis Scapular
winging 		Cerebral vessels
anomalies 		No of patients
reported 		Country/Region
c.956-84C>T not disease-associated 0
PubMed c.971C>T exon 10 c.1497G>A Classic infantile Childhood 2 years M 16 years - - - + + 1 North Africa
PubMed c.971dup exon 13 c.1802C>T Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Southern China
PubMed c.982_988del second mutation is not reported Classic infantile <12 months + 0
PubMed c.983T>C second mutation is not reported Classic infantile 0 months M 5 months + + + 1 Algeria
PubMed c.988T>G exon 14 c.1935C>A Classic infantile Classic infantile 1 month F 6 months + + 1 China
PubMed c.989G>A exon 12 c.1655T>C Classic infantile Childhood 5-6 months/5-6 months M/ F died at 3 years (2) moderate left ventricular non-obstructive hypertophy (2) +/+ +/+ +/+ 2 Italy
PubMed c.989G>A intron 1B c.-32-13T>G Childhood or Adult Adult early adult 56 - 1 Italy
PubMed c.989G>A second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.994_995insTT second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.998C>A exon 20 c.2815_2816del Classic infantile Classic infantile 1 month F died at 1 year + + + 1 China
PubMed c.1000G>A exon 8 c.1222A>G Classic infantile Childhood <7 years M unknown 1 UK
PubMed c.1000G>T second mutation is not reported Classic infantile <12 months + 0
PubMed c.1003G>A intron 1B c.-32-13T>G Childhood or Adult Adult >30 years/>30 years M/ M 59 years/54 years -/- + at night/- VC standing 1.4L/VC standing 2.8L -/- 2 Denmark
PubMed c.1003G>A second mutation is not reported Classic infantile <12 months + 4 Southern India (3), Western India (1)
PubMed c.1003G>A exon 5 c.876C>G Classic infantile Classic infantile 7 months 9 months + 1 Thailand
PubMed c.1004G>A  second mutation is not reported unknown unknown F NBS 1 Taiwan
PubMed c.1004G>A  intron 1B c.-32-13T>G Childhood or Adult Childhood 2 years F 26 years - + + - 1 Iran
PubMed c.1004_1005dup second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1040C>G second mutation is not reported Childhood 15 years F 38 years + + - + 1 unknown
PubMed c.1047del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult ranging 9 to 46 years 5 France
PubMed c.1047del intron 1B c.-32-13T>G Childhood or Adult Childhood 9 years M 19 years 1 France
PubMed c.1047del second mutation is not reported Childhood/ Childhood or Adult <12 years, >12 years -, N.A. 0
PubMed c.1048G>A intron 1B c.-32-13T>G Childhood or Adult Adult 46 years M 52 years - - - - - ischemic stroke 1 Caucasian
PubMed c.1048G>A intron 1B c.-32-13T>G Childhood or Adult asymptomatic asymptomatic F 51 years 1 France
PubMed c.1051del intron 1B c.-32-13T>G Childhood or Adult Adult 63 years 68 years - + + - 1 Germany
PubMed c.1051del intron 1B c.-32-13T>G Childhood or Adult Adult 21 years /24 years M/M 21,5 years/58 years +/- +/+ 2 Austria
PubMed c.1051del intron 1B c.-32-13T>G Childhood or Adult Adult 40 years M 62 years + + (BiPAP) + + (assistive device) - 1 Caucasian
PubMed c.1051del intron 1B c.[-32-13T>G; c.510C>T] Childhood or Adult Childhood 1 1.9657768651608 1 Unknown
PubMed c.1054C>T exon 4 c.[752C>T; 761C>T] Unknown (disease-associated) NBS NBS 1 Taiwan
PubMed c.1057C>T exon 8 c.1201C>A Unknown (disease-associated) Childhood 1 years M 42 years 1 China
PubMed c.1057C>T second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1057del exon 4 c.784G>A Classic infantile Classic infantile 2 months F 6 months + + + 1 Austria
PubMed c.1062C>G exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month M NBS + 1 Taiwan
PubMed c.1062C>G intron 1B c.-32-13T>G Childhood or Adult Childhood 5 2.0013689253936 1 Unknown
PubMed c.1064T>C exon 2 c.380G>T Unknown (disease-associated) Childhood 1 year F died at 5 years + + + + + 1 Portugal
PubMed c.1064T>C exon 3 c.670C>T Classic infantile or Childhood Childhood 5-6 years M 6 years - + + + + 1 Lebanon
PubMed c.1064T>C exon 7 c.1120T>C Classic infantile Classic infantile <1 year <1.5 years + 1 Turkey
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood 2 years F 2 years cardiac failure + + + 1 Italy
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood <2 years M died at 20 years + + + + + + 1 Italy
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood childhood unknown 1 Syrian
PubMed c.1064T>C intron 1B c.-32-13T>G Childhood or Adult Childhood 15 years M 15 years - + + - - 1 Caucasian
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Classic infantile <4 months M 4 months + 1 Italy
PubMed c.1064T>C exon 14 c.1927G>A Classic infantile Classic infantile <5 months M 5 months + 1 Italy
PubMed c.1064T>C exon 7 c.1106T>C Unknown (disease-associated) Childhood 1.1 years M 5 years - + + + - 1 Colombia
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood 6 years M 11 years - - + + + + 1 Colombia
PubMed c.1064T>C exon 12 c.1666A>G/ Asian pseudodeficiency allele Unknown (disease-associated) Childhood 10-13 years/11 years F/ F 13 years/11 years -/- + at night/+ at night +/+ +/- +/+ +/- +/- 2 Portugal
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood >2 years F 4 years - + + + 1 Portugal
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Classic infantile 4 months/2 months/2 months F/F/F 4 months/4 months/6 months + +/+/- + +/+/+ 3 Saudi Arabia
PubMed c.1064T>C intron 1B c.-32-13T>G Childhood or Adult Adult M 70 years 1 USA

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