Pompe disease GAA variant database
Displaying 2101 - 2150 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
PubMed c.1942G>A second mutation is not reported Classic infantile <1 years <1 years + + 1 French Guiana
PubMed c.1942G>A intron 18 c.2646+2T>A Classic infantile Classic infantile birth M 12d + - moderate periventricular white matter abnormalities 1 Italy
PubMed c.1942G>A exon 14 c.1942G>A Classic infantile Classic infantile <12 months + 0
PubMed c.1942G>A second mutation is not reported Classic infantile <12 months + 5 Southern India (2), Northern India (3)
PubMed c.1942G>A exon 7 c.1099T>C Classic infantile Classic infantile 3 months 5 months + 1 Thailand
PubMed c.1943G>A intron 1B c.-32-13T>G Childhood or Adult Adult unknown M 36 years FVC in sitting position 4.92L - - 1 Greece
PubMed c.1943G>A intron 1B c.-32-13T>G Childhood or Adult asymptomatic asymptomatic M 21 years - - - - 1 Greece
PubMed c.1944_1950del second mutation is not reported Childhood/ Childhood or Adult <12 years, >12 years -, N.A. 1
c.1951_1952delinsT no combination/ no patient data reported 0
PubMed c.1951_1952delinsT intron 1B c.-32-13T>G Childhood or Adult Adult (2) 30s years/35 years M/M 55 /55 years -/- + (BiPAP)/- +/ N.A. -/+ + (walker, cane)/+ (cane, wheelchair) +/- 2 Caucasian
PubMed c.1952dup intron 1B c.-32-13T>G Childhood or Adult Adult Since childhood F/F 36/46 2 Poland
PubMed c.1958C>A exon 4 c.[752C>T; 761C>T] Unknown (disease-associated) unknown unknown M NBS - 1 Taiwan
PubMed c.1960T>C exon 14 c.1935C>A Classic infantile Classic infantile 5 months died at 12 months 1 Taiwan
PubMed c.1961C>G second mutation is not reported Childhood or Adult >12 years N.A. 1
c.1962_1964del no combination/ no patient data reported 0
PubMed c.1962_1964del second mutation is not reported Classic infantile <12 months + 1 Northern India
c.1971G>A unknown 0
PubMed c.1978C>T exon 9 c.1397T>G Childhood Childhood 7 years M 9 years - + 1 Indoamerican-Spanish
PubMed c.1978C>T exon 16 c.2221G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.1979G>A exon 3 c.670C>T Classic infantile or Childhood Childhood 2 years F 5 years - + 1 Japan
PubMed c.1979G>A exon 7 c.1082C>T Classic infantile Childhood or Adult unknown >10 years - 1 USA
PubMed c.1979G>A exon 13 c.1798C>T Classic infantile Childhood unknown F 16 years - - 1 Japan
PubMed c.1979G>A exon 3 c.655G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.1979G>A exon 14 c.1979G>A Childhood Childhood 12 years/13 years M/M 25 years/33 years - +/+ +/+ -/- 2 Iran
c.1981T>G no combination/ no patient data reported 0
PubMed c.1987del exon 14 c.1987del Classic infantile Classic infantile shortly after birth/3 months M/ M died at 6m/died at 7m +/+ +/+ +/+ 2 Mexico
PubMed c.1993G>A exon 11 c.1634C>T Childhood or Adult Adult 19 years M 20 years + + 1 China
PubMed c.2003A>G exon 4 c.[752C>T; 761C>T] Unknown (disease-associated) NBS NBS 1 Japan
PubMed c.2004C>A second mutation is not reported Classic infantile <12 months + 0
PubMed c.2012T>A exon 8 c.1280T>C Unknown (disease-associated) childhood 3 months F 1.5 years + 1 China
PubMed c.2012T>G intron 15 c.2189+459_3405del Classic infantile Classic infantile 4.8 months F died at 24.8 months + - 1 Caucasian
PubMed c.2012T>G second mutation is not reported Classic infantile <1 year 1 USA
PubMed c.2014C>T exon 2 c.323G>A Unknown (disease-associated) Adult 21 years M 23 years - 1 China
PubMed c.2014C>T exon 4 c.766_785delinsC Unknown (disease-associated) Adult 18-33 years M died at 44 years + 1 USA
PubMed c.2014C>T exon 5 c.923A>T Unknown (disease-associated) Adult 39 years F 44 years - - - + - - - 1 France
PubMed c.2014C>T exon 10 c.1465G>A Classic infantile Adult adulthood M unknown 1 Italy
PubMed c.2014C>T exon 12 c.1703A>T Unknown (disease-associated) Childhood 13 years F 38 years - FVC in sitting/ supine position 50/46% + 1 Germany
PubMed c.2014C>T exon 12 c.1748C>T Unknown (disease-associated) Childhood or Adult unknown >10 years - 1 USA
PubMed c.2014C>T intron 1B c.-32-13T>G Childhood or Adult Childhood <13 years M unknown 1 Italy
PubMed c.2014C>T exon 17 c.2385del Unknown (disease-associated) Childhood or Adult unknown >10 years - 1 USA
PubMed c.2014C>T exon 9 c.1411_1414del Classic infantile Adult 20 years M 29 years - - 1 Hong Kong
PubMed c.2014C>T exon 17 c.2474C>G Unknown (disease-associated) Childhood or Adult 1 USA
PubMed c.2015G>A exon 13 c.1857C>G Classic infantile or Childhood Childhood 5-6 years M 27 years Mitral valve prolapse + + + + 1 Korea
PubMed c.2015G>A exon 14 c.2015G>A Classic infantile or Childhood Childhood 3 years M unknown - 1 Japan
PubMed c.2015G>A exon 14 c.2015G>A Classic infantile or Childhood Childhood unknown (2) unknown (2) 2 Japan
PubMed c.2015G>A exon 19 c.2783A>G Unknown (disease-associated) Childhood Juvenile 1 USA
PubMed c.2015G>A exon 14 c.2015G>A Classic infantile or Childhood Childhood 5 months F 1 year + + 1 China
PubMed c.2015G>A exon 14 c.2015G>A Classic infantile or Childhood Classic infantile <12 months + 0
PubMed c.2020C>G exon 3 c.569G>A Childhood Adult young adult M - + 1 Caucasian
PubMed c.2020C>T second mutation is not reported Childhood or Adult >12 years N.A. 1

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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