Full data view for gene GAA

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

3076 entries on 31 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     
-/. - c.-4670T>C r.(?) p.(=) - Unknown - benign g.78071052T>C g.80097253T>C CCDC40(NM_017950.3):c.3030T>C (p.D1010=), CCDC40(NM_017950.4):c.3030T>C (p.D1010=) - CCDC40_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4670T>C r.(?) p.(=) - Unknown - benign g.78071052T>C g.80097253T>C CCDC40(NM_017950.3):c.3030T>C (p.D1010=), CCDC40(NM_017950.4):c.3030T>C (p.D1010=) - CCDC40_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4654G>A r.(?) p.(=) - Unknown - VUS g.78071068G>A g.80097269G>A CCDC40(NM_017950.3):c.3046G>A (p.V1016I, p.(Val1016Ile)) - CCDC40_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4654G>A r.(?) p.(=) - Unknown - likely benign g.78071068G>A - CCDC40(NM_017950.3):c.3046G>A (p.V1016I, p.(Val1016Ile)) - CCDC40_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4639G>T r.(?) p.(=) - Unknown - pathogenic g.78071083G>T - CCDC40(NM_017950.4):c.3061G>T (p.E1021*) - CCDC40_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4591del r.(?) p.(=) - Unknown - likely pathogenic g.78071131del - CCDC40(NM_017950.4):c.3109delC (p.L1037Cfs*3) - CCDC40_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4571del r.(?) p.(=) - Unknown - pathogenic g.78071151del g.80097352del CCDC40(NM_017950.4):c.3129delC (p.F1044Sfs*35) - CCDC40_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4571del r.(?) p.(=) - Unknown - pathogenic g.78071151del - CCDC40(NM_017950.4):c.3129delC (p.F1044Sfs*35) - CCDC40_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2367A>G r.(?) p.(=) - Unknown - benign g.78073355A>G g.80099556A>G CCDC40(NM_017950.3):c.3210A>G (p.T1070=), CCDC40(NM_017950.4):c.3210A>G (p.T1070=) - CCDC40_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2367A>G r.(?) p.(=) - Unknown - benign g.78073355A>G g.80099556A>G CCDC40(NM_017950.3):c.3210A>G (p.T1070=), CCDC40(NM_017950.4):c.3210A>G (p.T1070=) - CCDC40_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2328C>T r.(?) p.(=) - Unknown - likely benign g.78073394C>T - CCDC40(NM_017950.3):c.3249C>T (p.Y1083=) - CCDC40_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2237G>A r.(?) p.(=) - Unknown - likely benign g.78073485G>A g.80099686G>A CCDC40(NM_017950.3):c.3340G>A (p.V1114M, p.(Val1114Met)) - CCDC40_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2237G>A r.(?) p.(=) - Unknown - VUS g.78073485G>A g.80099686G>A CCDC40(NM_017950.3):c.3340G>A (p.V1114M, p.(Val1114Met)) - CCDC40_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2228G>A r.(?) p.(=) - Unknown - likely benign g.78073494G>A g.80099695G>A CCDC40(NM_017950.3):c.3349G>A (p.(Glu1117Lys)) - CCDC40_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2222C>T r.(?) p.(=) - Unknown - VUS g.78073500C>T g.80099701C>T CCDC40(NM_017950.3):c.3355C>T (p.(Pro1119Ser)) - CCDC40_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2169C>G r.(?) p.(=) - Unknown - likely benign g.78073553C>G - CCDC40(NM_017950.3):c.3408C>G (p.L1136=) - CCDC40_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2160A>G r.(?) p.(=) - Unknown - benign g.78073562A>G g.80099763A>G CCDC40(NM_017950.3):c.3417A>G (p.P1139=), CCDC40(NM_017950.4):c.3417A>G (p.P1139=) - CCDC40_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2160A>G r.(?) p.(=) - Unknown - benign g.78073562A>G g.80099763A>G CCDC40(NM_017950.3):c.3417A>G (p.P1139=), CCDC40(NM_017950.4):c.3417A>G (p.P1139=) - CCDC40_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2153T>C r.(?) p.(=) - Unknown - likely benign g.78073569T>C g.80099770T>C CCDC40(NM_017950.3):c.3424T>C (p.(Ser1142Pro)) - CCDC40_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2133T>C r.(?) p.(=) - Unknown - benign g.78073589T>C g.80099790T>C CCDC40(NM_017950.3):c.*15T>C, CCDC40(NM_017950.4):c.*15T>C - CCDC40_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2133T>C r.(?) p.(=) - Unknown - benign g.78073589T>C g.80099790T>C CCDC40(NM_017950.3):c.*15T>C, CCDC40(NM_017950.4):c.*15T>C - CCDC40_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-524C>G r.(=) p.(=) - Parent #2 - likely benign g.78075198C>G g.80101399C>G - - GAA_000829 RNA analysis shows no effect on expression PubMed: Lord 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - LGMD PatGAA PubMed: Lord 2024 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.-260G>C r.(?) p.(=) - Unknown - benign g.78075462G>C - GAA(NM_000152.3):c.-260G>C - CCDC40_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-82G>C r.(?) p.(=) - Unknown - benign g.78075640G>C g.80101841G>C - - GAA_000001 in 5'UTR PubMed: Martiniuk 1990 - - Germline - - - - - DNA SEQ - - Healthy/Control ? PubMed: Martiniuk 1990 - - - - - - - - - 1 Gabriel Torrealba Acosta
?/. 1 c.-82G>C r.(?) p.(?) - Unknown ACMG VUS g.78075640G>C g.80101841G>C - - GAA_000001 prediction unknown, unknown phenotype when combined with null allele; predicted CRIM+ (protein expressed) Pompe disease database 567 - - SUMMARY record - MAF not reported - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-82G>C r.(?) p.(?) - Parent #1 - VUS g.78075640G>C g.80101841G>C - - GAA_000001 no 2nd variant reported, no patient data reported - - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
-/. - c.-33+219G>C r.(=) p.(=) - Unknown - benign g.78075908G>C - GAA(NM_000152.3):c.-33+219G>C - CCDC40_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 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
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