All transcript variants in gene GAA

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

2792 entries on 28 pages. Showing entries 1 - 100.
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Effect     

ClassClinical     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

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     

Owner     
+/. pathogenic (recessive) _1_20_ c.? r.0 p.0 - g.? - - - GAA_000000 second allele expressing no GAA mRNA PubMed: Zhong 1991 - - Germline - - - 0 - Arnold Reuser
-/. benign - c.-4670T>C r.(?) p.(=) - g.78071052T>C - CCDC40(NM_017950.3):c.3030T>C (p.D1010=) - CCDC40_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. benign - c.-4670T>C r.(?) p.(=) - g.78071052T>C - CCDC40(NM_017950.3):c.3030T>C (p.D1010=) - CCDC40_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. likely benign - c.-4654G>A r.(?) p.(=) - g.78071068G>A - CCDC40(NM_017950.3):c.3046G>A (p.(Val1016Ile)) - CCDC40_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. pathogenic - c.-4571del r.(?) p.(=) - g.78071151del - CCDC40(NM_017950.3):c.3129del (p.Phe1044fs) - CCDC40_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. likely benign - c.-2384A>G r.(?) p.(=) - g.78073338A>G - CCDC40(NM_017950.3):c.3193A>G (p.(Ile1065Val)) - CCDC40_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. benign - c.-2367A>G r.(?) p.(=) - g.78073355A>G - CCDC40(NM_017950.3):c.3210A>G (p.T1070=) - CCDC40_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. benign - c.-2367A>G r.(?) p.(=) - g.78073355A>G - CCDC40(NM_017950.3):c.3210A>G (p.T1070=) - CCDC40_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. likely benign - c.-2237G>A r.(?) p.(=) - g.78073485G>A - CCDC40(NM_017950.3):c.3340G>A (p.(Val1114Met)) - CCDC40_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. VUS - c.-2237G>A r.(?) p.(=) - g.78073485G>A - CCDC40(NM_017950.3):c.3340G>A (p.(Val1114Met)) - CCDC40_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. likely benign - c.-2233G>A r.(?) p.(=) - g.78073489G>A - CCDC40(NM_017950.3):c.3344G>A (p.(Arg1115Gln)) - CCDC40_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. likely benign - c.-2228G>A r.(?) p.(=) - g.78073494G>A - CCDC40(NM_017950.3):c.3349G>A (p.(Glu1117Lys)) - CCDC40_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. VUS - c.-2222C>T r.(?) p.(=) - g.78073500C>T - CCDC40(NM_017950.3):c.3355C>T (p.(Pro1119Ser)) - CCDC40_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. likely benign - c.-2214C>A r.(?) p.(=) - g.78073508C>A - CCDC40(NM_017950.3):c.3363C>A (p.(Phe1121Leu)) - CCDC40_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. benign - c.-2160A>G r.(?) p.(=) - g.78073562A>G - CCDC40(NM_017950.3):c.3417A>G (p.P1139=) - CCDC40_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. benign - c.-2160A>G r.(?) p.(=) - g.78073562A>G - CCDC40(NM_017950.3):c.3417A>G (p.P1139=) - CCDC40_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. likely benign - c.-2153T>C r.(?) p.(=) - g.78073569T>C - CCDC40(NM_017950.3):c.3424T>C (p.(Ser1142Pro)) - CCDC40_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. benign - c.-2133T>C r.(?) p.(=) - g.78073589T>C - CCDC40(NM_017950.3):c.*15T>C - CCDC40_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. benign - c.-2133T>C r.(?) p.(=) - g.78073589T>C - CCDC40(NM_017950.3):c.*15T>C - CCDC40_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. benign 1 c.-82G>C r.(?) p.(=) - g.78075640G>C g.80101841G>C - - GAA_000001 in 5'UTR PubMed: Martiniuk 1990 - - Germline - - - 0 - Arnold Reuser
?/. ACMG: 3 1 c.-82G>C r.(?) p.(?) - g.78075640G>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 - 0 - Pim Pijnappel
?/. VUS 1 c.-82G>C r.(?) p.(?) - g.78075640G>C - - - GAA_000001 no 2nd variant reported, no patient data reported - - - Germline - - - 0 - Pim Pijnappel
-?/. likely benign - c.-33+3G>T r.spl? p.? - g.78075692G>T - GAA(NM_000152.3):c.-33+3G>T (p.(=)) - CCDC40_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. VUS 1i c.-32-13T>G r.(=) p.(=) - g.78078341T>G g.80104542T>G - - GAA_000029 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. pathogenic (recessive) 1i c.-32-13T>G r.(?) p.(=) - g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site - - - Germline - - - 0 - Gabriel Torrealba Acosta
+/. pathogenic (recessive) 1i c.-32-13T>G r.(?) p.(=) - g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site - - - Germline - - - 0 - Gabriel Torrealba Acosta
+/. pathogenic (recessive) 1i c.-32-13T>G r.(?) p.(=) - g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site - - - Germline - - - 0 - Gabriel Torrealba Acosta
+/. pathogenic (recessive) 1i c.-32-13T>G r.(?) p.(=) - g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site PubMed: Boerkoel 1995 - - Germline - - - 0 - Arnold Reuser
+/. pathogenic (recessive) 1i c.-32-13T>G r.(?) p.(=) - g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site PubMed: Huie 1994b - - Germline - - - 0 - Arnold Reuser
+/. pathogenic (recessive) 1i c.-32-13T>G r.(?) p.(=) - g.78078341T>G g.80104542T>G - - GAA_000029 leaky splice site PubMed: Kroos 1995 - - Germline - - - 0 - Arnold Reuser
+?/. likely pathogenic 1i c.-32-13T>G r.(?) p.(=) - g.78078341T>G g.80104542T>G - - GAA_000029 compound heterozygous genotype PubMed: Alcantara-Ortigoza 2010 - - Germline - - - 0 - Miguel Angel Alcántara-Ortigoza
+/. ACMG: 5 1i c.-32-13T>G r.[=, -32_546del, -32_486del] p.[=, 0] - 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 - 0 - Marianne Hoogeveen-Westerveld
+/. pathogenic - c.-32-13T>G r.(=) p.(=) - g.78078341T>G - GAA(NM_000152.3):c.-32-13T>G (p.(=)) - GAA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. pathogenic - c.-32-13T>G r.(=) p.(=) - g.78078341T>G - GAA(NM_000152.3):c.-32-13T>G (p.(=)) - GAA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 2 Variants detected in GAA PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 variant found in individuals with adult-onset Pompe disease PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 5'UTR c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 consistent with diagnosis Pompe disease PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant; commonly found in individuals with adult-onset Pompe disease PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant in GAA PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 commonly found in individualswith adult-onset Pompe disease PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 1i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2i c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic 2 c.-32-13T>G r.spl p.? - g.78078341T>G - - - GAA_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. pathogenic (recessive) 1i c.-32-13T>G r.spl p.? - g.78078341T>G g.80104542T>G - - GAA_000029 - PubMed: Muller-Felber 2007 - - Germline - - - 0 - Pim Pijnappel
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