Full data view for gene AGA

Information The variants shown are described using the NM_000027.3 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.10A>C r.(?) p.(Lys4Gln) Unknown - likely benign g.178363520T>G - AGA(NM_000027.4):c.10A>C (p.K4Q) - AGA_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.18C>A r.(?) p.(Asn6Lys) Unknown - VUS g.178363512G>T g.177442358G>T AGA(NM_000027.3):c.18C>A (p.(Asn6Lys)) - AGA_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.24T>C r.(?) p.(Pro8=) Unknown - likely benign g.178363506A>G - AGA(NM_000027.4):c.24T>C (p.P8=) - AGA_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.34G>T r.(34g>u) p.(Val12Leu) Unknown - pathogenic g.178363496C>A g.177442342C>A c.34G>T - AGA_000012 1 Italian AGU patient (het); Double mutation c.34G>T + c.1000G>T in one allele, which one is causative is unclear PubMed: Saarela et al. 2001 - rs74626221 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>T r.(?) p.(Val12Leu) Parent #1 - likely benign g.178363496C>A g.177442342C>A - - AGA_000012 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74626221 Germline - 11/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 11 Mohammed Faruq
+/+ 1 c.44T>G r.(44u>g) p.(Leu15Arg) Paternal (confirmed) - pathogenic g.178363486A>C g.177442332A>C - - AGA_000016 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2004 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.102_108del r.102_108delgcccuuu p.Trp34* Unknown - likely pathogenic g.178363422_178363428del g.177442268_177442274del 7-bp deletion (nt 102-108) - AGA_000003 1 English AGU patient (het) + 2 English sibs (het) with AGU PubMed: Ikonen et al. 1991, PubMed: Park et al. 1993 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.127_127+1insATGCGG r.spl p.? Unknown - pathogenic g.178363402_178363403insCCGCAT - ins 6 bp after G127 - AGA_000004 1 Tunisian AGU patient; Inserted ATGCGG sequence is not found in normal intron 01, changes in intron 01 leading to this insertion are unknown PubMed: Ikonen et al. 1991 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.127+25C>T r.(=) p.(=) Unknown - benign g.178363378G>A g.177442224G>A AGA(NM_000027.3):c.127+25C>T - AGA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.179G>A r.179g>a p.Gly60Asp Unknown - pathogenic g.178361529C>T g.177440375C>T - - AGA_000005 1 German AGU patient PubMed: Ikonen et al. 1991 - rs121964907 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.179G>A r.(?) p.(Gly60Asp) Unknown - likely pathogenic g.178361529C>T g.177440375C>T AGA(NM_000027.4):c.179G>A (p.G60D) - AGA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.192T>A r.192u>a p.Cys64* Both (homozygous) - pathogenic g.178361516A>T g.177440362A>T - - AGA_000006 1 Puerto Rican AGU family PubMed: Peltola et al. 1994 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197G>C r.(?) p.(Arg66Thr) Unknown - likely benign g.178361511C>G g.177440357C>G AGA(NM_000027.3):c.197G>C (p.(Arg66Thr)) - AGA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.200_201del r.200_201delag p.Glu67Alafs*3 Both (homozygous) - pathogenic g.178361514_178361515del g.177440360_177440361del c.199_200delGA - AGA_000007 7 Finnish AGU families PubMed: Isoniemi et al. 1995 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.200_201del r.(?) p.(Glu67AlafsTer3) Unknown - pathogenic g.178361514_178361515del g.177440360_177440361del AGA(NM_000027.3):c.200_201delAG (p.E67Afs*3) - AGA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.214T>C r.214u>c p.Ser72Pro Both (homozygous) - pathogenic g.178361494A>G g.177440340A>G - - AGA_000008 4 Arab AGU families PubMed: Peltola et al. 1996 - rs121964909 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.276G>A r.(?) p.(Met92Ile) Unknown - VUS g.178361432C>T - AGA(NM_000027.3):c.276G>A (p.M92I) - AGA_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.281+13T>G r.(=) p.(=) Unknown - benign g.178361414A>C g.177440260A>C AGA(NM_000027.3):c.281+13T>G, AGA(NM_000027.4):c.281+13T>G - AGA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.281+13T>G r.(=) p.(=) Unknown - benign g.178361414A>C g.177440260A>C AGA(NM_000027.3):c.281+13T>G, AGA(NM_000027.4):c.281+13T>G - AGA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.299G>A r.(299g>a) p.(Gly100Glu) Parent #1 - pathogenic g.178360825C>T g.177439671C>T - - AGA_000009 2 Canadian sibs PubMed: Laitinen et al. 1997 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.302C>T r.302c>u p.Ala101Val Unknown - pathogenic g.178360822G>A g.177439668G>A - - AGA_000010 1 Italian (hom) and 1 English (com-het) AGU patient PubMed: Ikonen et al. 1991, PubMed: Park et al. 1993 - rs121964908 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.302C>T r.(?) p.(Ala101Val) Unknown - likely pathogenic g.178360822G>A g.177439668G>A AGA(NM_000027.4):c.302C>T (p.A101V) - AGA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.302C>T r.(?) p.(Ala101Val) Parent #1 - likely pathogenic g.178360822G>A g.177439668G>A - - AGA_000010 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121964908 Germline - 5/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
-?/. - c.303A>T r.(?) p.(Ala101=) Unknown - likely benign g.178360821T>A g.177439667T>A AGA(NM_000027.3):c.303A>T (p.A101=) - AGA_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313C>A r.(?) p.(Leu105Ile) Unknown - likely benign g.178360811G>T g.177439657G>T AGA(NM_000027.3):c.313C>A (p.(Leu105Ile)) - AGA_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.313C>A r.(?) p.(Leu105Ile) Parent #1 - benign g.178360811G>T g.177439657G>T - - AGA_000050 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76491548 Germline - 11/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 11 Mohammed Faruq
+/. - c.319C>T r.(?) p.(Arg107Ter) Unknown - pathogenic g.178360805G>A g.177439651G>A - - AGA_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.336del r.336del p.Ile112Metfs*16 Both (homozygous) - pathogenic g.178360789del g.177439635del - - AGA_000011 1 Dutch AGU patient PubMed: Ikonen et al. 1991 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.336del r.(?) p.(Ile112MetfsTer16) Unknown - likely pathogenic g.178360789del g.177439635del AGA(NM_000027.3):c.336delT (p.I112Mfs*16), AGA(NM_000027.4):c.336delT (p.I112Mfs*16) - AGA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.336del r.(?) p.(Ile112MetfsTer16) Unknown - pathogenic g.178360789del g.177439635del AGA(NM_000027.3):c.336delT (p.I112Mfs*16), AGA(NM_000027.4):c.336delT (p.I112Mfs*16) - AGA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 3 c.346C>T r.(346c>u) p.(Arg116Trp) Unknown - pathogenic g.178360778G>A g.177439624G>A - - AGA_000031 3 Turkish siblings (hom) with AGU PubMed: Opladen et al. 2014 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.369_373del r.369_373del p.His124Thrfs*19 Unknown - pathogenic g.178360751_178360755del g.177439597_177439601del 5 bp deletion (ACACA) nt 367-371, 367_371del: T123fsX142 - AGA_000013 1 American AGU patient PubMed: Park et al. 1993, PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.373_376del r.(373_376del) p.(Thr125Phefs*2) Both (homozygous) - pathogenic g.178360754_178360757del g.177439600_177439603del 372_375del - AGA_000014 1 Pakistani AGU patient PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.376C>G r.(?) p.(Leu126Val) Unknown - VUS g.178360748G>C - AGA(NM_000027.3):c.376C>G (p.L126V) - AGA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.392C>T r.(?) p.(Ser131Leu) Paternal (confirmed) - likely pathogenic g.178360732G>A g.177439578G>A - - AGA_000033 1 Chinese patient with AGU (het) PubMed: Liu et al. 2014 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3i c.395-8A>G r.394_395insucuccag p.(Ala132ValfsTer15) Both (homozygous) - pathogenic g.178360019T>C g.177438865T>C - - AGA_000029 1 Japanese AGU patient PubMed: Yoshida et al. 1991, PubMed: Saarela et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.404T>C r.(404u>c) p.(Phe135Ser) Unknown - pathogenic g.178360002A>G g.177438848A>G - - AGA_000015 2 Canadian sibs (com-het) with AGU PubMed: Laitinen et al. 1997 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.428A>G r.(?) p.(Asn143Ser) Unknown - likely benign g.178359978T>C - AGA(NM_000027.3):c.428A>G (p.N143S) - AGA_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.436T>G r.(?) p.(Leu146Val) Parent #1 - VUS g.178359970A>C g.177438816A>C - - AGA_000051 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146381591 Germline - 3/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
?/. - c.436T>G r.(?) p.(Leu146Val) Unknown - VUS g.178359970A>C - AGA(NM_000027.3):c.436T>G (p.L146V, p.(Leu146Val)) - AGA_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.436T>G r.(?) p.(Leu146Val) Unknown - VUS g.178359970A>C - AGA(NM_000027.3):c.436T>G (p.L146V, p.(Leu146Val)) - AGA_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 4 c.439T>C r.(439u>c) p.(Ser147Pro) Both (homozygous) - pathogenic g.178359967A>G g.177438813A>G - - AGA_000030 2 Qatari siblings (hom) with AGU PubMed: Opladen et al. 2014 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.446C>G r.(?) p.(Thr149Ser) Unknown - benign g.178359960G>C g.177438806G>C AGA(NM_000027.3):c.446C>G (p.T149S), AGA(NM_000027.4):c.446C>G (p.T149S) - AGA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.446C>G r.(?) p.(Thr149Ser) Unknown - benign g.178359960G>C g.177438806G>C AGA(NM_000027.3):c.446C>G (p.T149S), AGA(NM_000027.4):c.446C>G (p.T149S) - AGA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.481C>T r.(?) p.(Arg161Trp) Unknown - likely benign g.178359925G>A - AGA(NM_000027.4):c.481C>T (p.R161W) - AGA_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482G>A r.(?) p.(Arg161Gln) Both (homozygous) - VUS g.178359924C>T g.177438770C>T - - AGA_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 4 c.482G>A r.482g>a p.Arg161Gln Unknown - VUS g.178359924C>T g.177438770C>T - - AGA_000001 Finnish variant; On the same haplotype with Finnish Major mutation. PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001 - rs192195150 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.482G>A r.(?) p.(Arg161Gln) Unknown - likely benign g.178359924C>T g.177438770C>T AGA(NM_000027.4):c.482G>A (p.R161Q) - AGA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.488G>C r.(?) p.(Cys163Ser) Both (homozygous) - VUS g.178359918C>G g.177438764C>G - - AGA_000002 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.488G>C r.488g>c p.Cys163Ser Both (homozygous) - pathogenic g.178359918C>G g.177438764C>G AGU FIN - AGA_000002 Finnish Major AGU mutation, in 98% of Finnish AGU patients; Finnish Major AGU mutation. On the same haplotype with c.482G>A (p.Arg161Gln) PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001 - rs121964904 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.488G>C r.(?) p.(Cys163Ser) Unknown - pathogenic g.178359918C>G g.177438764C>G AGA(NM_000027.4):c.488G>C (p.C163S) - AGA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.503G>A r.(503g>a) p.(Trp168*) Unknown - pathogenic g.178359903C>T g.177438749C>T - - AGA_000018 1 British AGU patient (com-het) PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.503G>A r.(?) p.(Trp168*) Both (homozygous) - likely pathogenic (recessive) g.178359903C>T g.177438749C>T - - AGA_000018 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411606 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.622+13T>C r.(=) p.(=) Unknown - likely benign g.178358546A>G g.177437392A>G AGA(NM_000027.4):c.622+13T>C - AGA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.623-7C>T r.(=) p.(=) Unknown - likely benign g.178357512G>A g.177436358G>A AGA(NM_000027.3):c.623-7C>T (, p.(=)) - AGA_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.623-7C>T r.(=) p.(=) Unknown - likely benign g.178357512G>A g.177436358G>A AGA(NM_000027.3):c.623-7C>T (, p.(=)) - AGA_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.645A>G r.(?) p.(Thr215=) Unknown - likely benign g.178357483T>C g.177436329T>C AGA(NM_000027.3):c.645A>G (p.T215=), AGA(NM_000027.4):c.645A>G (p.T215=) - AGA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.645A>G r.(?) p.(Thr215=) Unknown - likely benign g.178357483T>C g.177436329T>C AGA(NM_000027.3):c.645A>G (p.T215=), AGA(NM_000027.4):c.645A>G (p.T215=) - AGA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.677G>A r.[677g>a, del751_826] p.[Gly226Asp, p.Ala251*] Both (homozygous) - pathogenic g.178357451C>T g.177436297C>T G677→A and exon 6 skipping - AGA_000019 2 Canadian AGU patients (hom) PubMed: Coulter-Mackie et al. 1999 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-/. - c.699-25G>C r.(=) p.(=) Unknown - benign g.178355668C>G g.177434514C>G AGA(NM_000027.3):c.699-25G>C - AGA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.754G>C r.(754g>c) p.(Gly252Arg) Both (homozygous) - pathogenic g.178355588C>G g.177434434C>G - - AGA_000020 1 Italian AGU patient (hom) PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.755G>A r.(755g>a) p.(Gly252Glu) Unknown - pathogenic g.178355587C>T g.177434433C>T - - AGA_000021 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.762C>T r.(?) p.(Ala254=) Unknown - likely benign g.178355580G>A g.177434426G>A AGA(NM_000027.3):c.762C>T (p.A254=), AGA(NM_000027.4):c.762C>T (p.A254=) - AGA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.762C>T r.(?) p.(Ala254=) Unknown - likely benign g.178355580G>A g.177434426G>A AGA(NM_000027.3):c.762C>T (p.A254=), AGA(NM_000027.4):c.762C>T (p.A254=) - AGA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.770C>T r.(770c>u) p.(Thr257Ile) Unknown - pathogenic g.178355572G>A g.177434418G>A - - AGA_000022 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.788del r.788delu p.Leu263* Both (homozygous) - pathogenic g.178355555del g.177434401del delta T788 - AGA_000023 1 Mauritanian AGU patient (hom) PubMed: Park et al. 1996 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.794G>A r.(?) p.(Arg265His) Unknown - VUS g.178355548C>T g.177434394C>T AGA(NM_000027.3):c.794G>A (p.R265H) - AGA_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.800dup r.800dupu p.Pro268Alafs*52 Both (homozygous) - pathogenic g.178355542dup g.177434388dup ins T after T800 - AGA_000024 1 Spanish-American AGU patient PubMed: Ikonen et al. 1991 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.904G>A r.904g>a p.Gly302Arg Both (homozygous) - pathogenic g.178354404C>T g.177433250C>T - - AGA_000025 1 Turkish AGU patient (hom) PubMed: Ikonen et al. 1991 - rs121964905 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.916T>C r.916u>c p.Cys306Arg Both (homozygous) - pathogenic g.178354392A>G g.177433238A>G - - AGA_000026 1 American AGU patient (hom) PubMed: Ikonen et al. 1991 - rs121964906 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 8i c.940+1G>T r.[=, 935_1068del] p.[=, 935_*27del] Both (homozygous) - pathogenic g.178354367C>A g.177433213C>A GT-to-TT transversion at the splice donor site of intron 8 - AGA_000027 1 African-American AGU patient (hom); Mutation almost completely eliminate splicing at the exon 8/intron 8 border and causes exon 8 skipping. PubMed: Fisher et al. 1991 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 8i c.941-148_*1920del r.spl p.? Unknown - pathogenic g.178350942_178353110del g.177429788_177431956del - - AGA_000028 1 North American AGU patient PubMed: Jalanko et al. 1995 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1000G>A r.(?) p.(Glu334Lys) Unknown - likely benign g.178352903C>T - AGA(NM_000027.3):c.1000G>A (p.E334K) - AGA_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 9 c.1000G>T r.(1000g>u) p.(Glu334*) Unknown - likely pathogenic g.178352903C>A g.177431749C>A - - AGA_000032 1 Italian AGU patient (het); Double mutation c.34G>T + c.1000G>T in one allele, which one is causative is unclear PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1023A>G r.(?) p.(Glu341=) Unknown - likely benign g.178352880T>C g.177431726T>C AGA(NM_000027.3):c.1023A>G (p.(=)) - AGA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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