Pompe disease GAA variant database
Displaying 501 - 550 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.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 40 43 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Unknown 1 1 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 36 41 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 24 34 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 26 36 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 30 30 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 27 43 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 36 46 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 49 59 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 30 31 1 Unknown
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 35 44 1 Unknown
PubMed c.-32-13T>G exon 18 c.2608C>T Classic infantile Childhood 17 40 1 Unknown
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Childhood 12 8 1 Unknown
PubMed c.-32-13T>G exon 2 c.379_380del Classic infantile Adult 36 39 1 Unknown
PubMed c.-32-13T>G exon 2 c.379_380del Classic infantile Adult 26 46 1 Unknown
PubMed c.-32-13T>G exon 2 c.379_380del Classic infantile Adult 50 69 1 Unknown
PubMed c.-32-13T>G exon 2 c.379_380del Classic infantile Adult 44 49 1 Unknown
PubMed c.-32-13T>G exon 2 c.461_469del Unknown (disease associated) Adult 35 43 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 1 1.3141683778234 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 0.8 2.3326488706366 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 1 1.7248459958932 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 21 33 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 33 43 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 35 35 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 15 25 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 32 27 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 15 42 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 31 36 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 29 42 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 18 20 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 30 63 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 37 37 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 39 40 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 37 41 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 32 35 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 39 54 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 20 24 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 31 49 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 36 62 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 42 57 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 11 35 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 26 37 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 30 19 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 55 68 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 35 53 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 40 47 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 43 49 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 51 59 1 Unknown
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 3 28 1 Unknown
PubMed c.-32-13T>G exon 4 c.701C>A Unknown (disease associated) Adult 34 41 1 Unknown

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