Pompe disease GAA variant database
Displaying 951 - 1000 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.701C>G no combination/ no patient data reported 0
PubMed c.701C>A intron 1B c.-32-13T>G Childhood or Adult Adult 34 41 1 Unknown
PubMed c.705G>A exon 18 c.2560C>T Classic infantile NBS NBS NBS 1 Japan
PubMed c.705G>A exon 18 c.2560C>T Classic infantile NBS NBS NBS 1 Japan
PubMed c.710C>T exon 5 c.877G>A Classic infantile Adult 26 years F 30 years + 1 Germany
PubMed c.710C>T exon 5 c.877G>A Classic infantile Adult 26 years F 27 years - - - Stroke at 28 years 1 Caucasian
PubMed c.715_716del second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.716del exon 5 c.877G>A Classic infantile Classic infantile <1 year <1.5 years + 1 Afghan
PubMed c.716del second mutation is not reported Classic infantile <12 months + 1 Southern India
PubMed c.719T>C intron 1B c.-32-13T>G Childhood or Adult Adult 25 years M 33 years - - - - - - 1 France
PubMed c.719T>C exon 5 c.877G>A Classic infantile Adult 25 years 41 years - + - 1 Germany
PubMed c.722_723del exon 12 c.1687C>T Classic infantile Classic infantile 2 months M died at 4y,2m + + 1 Caucasian
PubMed c.722_723del exon 12 c.1687C>T Classic infantile Classic infantile <6 months <6 months + - 1 Caucasian
PubMed c.722_723del intron 12 c.1754+1G>A Classic infantile Classic infantile <6 months 6 months + - - 1 Caucasian
PubMed c.722_723del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.722_723del intron 12 c.1754+1G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.722_723del exon 12 c.1687C>T Classic infantile Classic infantile <1 year 1 USA
c.725C>T no combination/ no patient data reported 0
PubMed c.730C>T exon 4 c.730C>T Classic infantile Classic infantile 1 month F 1 month + 1 Iran
PubMed c.736del exon 2 c.546G>A Adult Adult 70 years M 70 years 1 USA
PubMed c.737T>G intron 1B c.-32-13T>G Childhood or Adult unknown unknown M 9 years 1 Italy
PubMed c.742del second mutation is not reported Classic infantile unknown F unknown + 1 Italy
PubMed c.742del exon 5 c.896T>C Classic infantile Classic infantile 4 months F 6 months + - 1 Italy
PubMed c.742del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.743T>G intron 1B c.-32-13T>G Childhood or Adult Adult 43 years M 53 years - - - - - - 1 France
PubMed c.743T>G intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
c.743T>C no combination/ no patient data reported 0
PubMed c.743T>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.[752C>T; c.761C>T] exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Childhood (1)/ unknown (2) 14-34 months/unknown (2) M/ F/ M NBS - 3 Taiwan
PubMed c.[752C>T; c.761C>T] exon 14 c.1958C>A Unknown (found only in NBS) unknown unknown M NBS - 1 Taiwan
PubMed c.[752C>T; c.761C>T] exon 4 c.[752C>T; 761C>T] Unknown (disease-associated) Childhood 2 years M - - - - - post encephalopathy 1 Japan
PubMed c.[752C>T; c.761C>T] Asian pseudodeficiency allele NBS NBS NBS 17 Japan
PubMed c.[752C>T; c.761C>T] exon 2 c.317G>A Unknown (found only in NBS) NBS NBS NBS 1 Japan
PubMed c.[752C>T; c.761C>T] exon 14 c.2003A>G Unknown (found only in NBS) NBS NBS NBS 1 Japan
PubMed c.[752C>T; c.761C>T] exon 8 c.1244C>T Unknown (found only in NBS) NBS NBS NBS 1 Japan
PubMed c.[752C>T; c.761C>T] exon 6 c.1054C>T Unknown (found only in NBS) NBS NBS 1 Taiwan
PubMed c.756_757insT exon 3 c.569G>A Childhood Childhood 13 years M 19 years - - - - - 1 Japan
PubMed c.759del second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.763C>T exon 3 c.670C>T Classic infantile or Childhood Childhood 6 months F died at 2 years - + + 1 Turkey
PubMed c.766_784del second mutation is not reported Childhood <12 years - 1
PubMed c.766_785delinsC exon 14 c.2014C>T Childhood or Adult Adult 18-33 years M died at 44 years + 1 USA
PubMed c.766_785delinsC second mutation is not reported Adult late onset unknown 2 UK
PubMed c.766_785delinsC intron 1B c.-32-13T>G Childhood or Adult Adult 46 years F 46 years 1 USA
c.768dup no combination/ no patient data reported 0
c.776G>T no combination/ no patient data reported 0
PubMed c.781G>A exon 4 c.781G>A Classic infantile Classic infantile 5 months 21 months + 1 Thailand
PubMed c.784G>A exon 3 c.655G>A Classic infantile Classic infantile 2.5-4 months F died at 10 months + + 1 Spain
PubMed c.784G>A exon 4 c.784G>A Classic infantile Classic infantile unknown M died at 8 months + 1 Italy
PubMed c.784G>A exon 11 c.1564C>G Classic infantile Classic infantile <5 months F unknown + 1 Italy
PubMed c.784G>A exon 7 c.1124G>T Classic infantile Classic infantile <4 months F unknown + 1 Italy

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

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