Full data view for gene GAA

Information The variants shown are described using the NM_000152.3 transcript reference sequence.

345 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 1i c.-32-13T>G r.spl? p.? - Unknown - VUS g.78078341T>G g.80104542T>G - - GAA_000029 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1i c.-32-13T>G r.spl? p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site - - - Germline - - - - - DNA SEQ - - GSD2 1 - - M ? Costa Rica - - - - - 1 Arnold Reuser
+/. 1i c.-32-13T>G r.spl? p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site - - - Germline - - - - - DNA SEQ - - GSD2 2 - - F ? Costa Rica - - - - - 1 Arnold Reuser
+/. 1i c.-32-13T>G r.spl? p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site - - - Germline - - - - - DNA SEQ - - GSD2 3 - - M ? Costa Rica - - - - - 1 Arnold Reuser
+/. 1i c.-32-13T>G r.spl? p.? - Unknown - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site PubMed: Boerkoel 1995 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Boerkoel 1995 - - - - - - - - - 1 Arnold Reuser
+/. 1i c.-32-13T>G r.spl? p.? - Unknown - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site PubMed: Huie 1994b - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Huie 1994b - - - - - - - - - 1 Arnold Reuser
+/. 1i c.-32-13T>G r.spl? p.? - Unknown - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site PubMed: Kroos 1995 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Kroos 1995 - - - - - - - - - 1 Arnold Reuser
+?/. 1i c.-32-13T>G r.spl? p.? - Maternal (confirmed) - likely pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 compound heterozygous genotype PubMed: Alcantara-Ortigoza 2010 - - Germline - - - - - DNA SEQ - - ? CASE 1 - - M - Mexico Mexican - - - - 1 Arnold Reuser
+/. 1i c.-32-13T>G r.[=,-32_546del,-32_486del] p.[=,0] - Unknown ACMG pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 predicted potentially mild, childhood/adult phenotype when combined with null allele; predicted CRIM+ (leaky normal splicing) Pompe disease database 568 - rs386834236 SUMMARY record - MAF <0.01 - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.-32-13T>G r.(=) p.(=) - Unknown - pathogenic g.78078341T>G g.80104542T>G GAA(NM_000152.3):c.-32-13T>G (p.(=)), GAA(NM_000152.5):c.-32-13T>G - GAA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.-32-13T>G r.(=) p.(=) - Unknown - pathogenic g.78078341T>G g.80104542T>G GAA(NM_000152.3):c.-32-13T>G (p.(=)), GAA(NM_000152.5):c.-32-13T>G - GAA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.-32-13T>G r.(=) p.(=) - Unknown - pathogenic g.78078341T>G g.80104542T>G GAA(NM_000152.3):c.-32-13T>G (p.(=)), GAA(NM_000152.5):c.-32-13T>G - GAA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 2 Variants detected in GAA PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 variant found in individuals with adult-onset Pompe disease PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 consistent with diagnosis Pompe disease PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant; commonly found in individuals with adult-onset Pompe disease PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant in GAA PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 commonly found in individualswith adult-onset Pompe disease PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic g.78078341T>G g.80104542T>G - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Muller-Felber 2007 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Muller-Felber 2007 - M - - white - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nino 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Nino 2013 - F - Colombia - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Echaniz-Laguna 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Echaniz-Laguna 2015 - F - France - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Musumeci 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Musumeci 2015 - F - Germany - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Musumeci 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Musumeci 2015 - M - Germany - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Musumeci 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Musumeci 2015 - M - Germany - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Musumeci 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Musumeci 2015 - F - Germany - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Vill 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Vill 2015 - - - Germany - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Sharma 2005 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Sharma 2005 - F - Germany - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Herzog 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Herzog 2012 - M - Germany - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Musumeci 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Musumeci 2015 family, 2 affected males M - Italy - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Nascimbeni 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Nascimbeni 2008 - M - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Laforet 2000 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Laforet 2000 - F - Portugal - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Golden-Grant 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Golden-Grant 2015 family, 2 affected females F;M - United States - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Andreassen 2014 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Andreassen 2014 family, 2 affected males M - Denmark - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Quenardelle 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Quenardelle 2015 - M - - white - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Echaniz-Laguna 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Echaniz-Laguna 2015 - F - France - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Vill 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Vill 2015 - - - Germany - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Muller-Felber 2007 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Muller-Felber 2007 - M - - white - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Muller-Felber 2007 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Muller-Felber 2007 - F - - white - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Joshi 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Joshi 2008 - - - Germany - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Alejaldre 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Alejaldre 2012 family, 2 affected males M - - white - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+/. 1i c.-32-13T>G r.spl p.? - Parent #1 - pathogenic (recessive) g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Montalvo 2006 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Montalvo 2006 - M - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
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