Full data view for gene AGXT

Information The variants shown are described using the NM_000030.2 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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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     

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Age at death     

VIP     

Data_av     

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Owner     
?/. - c.26C>A r.(?) p.(Thr9Asn) Unknown - VUS g.241808308C>A g.240868891C>A - - AGXT_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.26C>A r.(?) p.(Thr9Asn) Unknown - VUS g.241808308C>A g.240868891C>A - - AGXT_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.26C>A r.(?) p.(Thr9Asn) Unknown - VUS g.241808308C>A g.240868891C>A - - AGXT_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.26C>A r.(?) p.(Thr9Asn) Unknown - VUS g.241808308C>A g.240868891C>A - - AGXT_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.31C>A r.(?) p.(Pro11Thr) Unknown - VUS g.241808313C>A - AGXT(NM_000030.3):c.31C>A (p.(Pro11Thr)) - AGXT_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.33dup r.(?) p.(Lys12Glnfs*156) Both (homozygous) - VUS g.241808315dup g.240868898dup - - AGXT_000004 - PubMed: Casey 2014 - - Unknown - - - - - DNA arraySNP, SEQ, SEQ-NG-I - - CILD - PubMed: Casey 2014 2-generation family, 1 affected, unaffected heterozygous carrier mother M yes Ireland Irish Traveller - - - - 1 Johan den Dunnen
+/. - c.33dup r.(?) p.(Lys12GlnfsTer156) Unknown - pathogenic g.241808315dup - AGXT(NM_000030.2):c.33dupC (p.K12Qfs*156) - AGXT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.33dup r.(?) p.(Lys12Glnfs*156) Both (homozygous) ACMG pathogenic (recessive) g.241808315dup g.240868898dup 33dupC - AGXT_000004 - Abid 2022, submitted ClinVar-140583 rs180177201 Germline yes - - - - DNA SEQ - - HP1 1012 Abid 2022, submitted - M likely Pakistan Pakistan - - - - 1 Aiysha Abid
-?/. - c.35A>G r.(?) p.(Lys12Arg) Unknown - likely benign g.241808317A>G g.240868900A>G AGXT(NM_000030.2):c.35A>G (p.K12R), AGXT(NM_000030.3):c.35A>G (p.K12R) - AGXT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.35A>G r.(?) p.(Lys12Arg) Unknown - likely benign g.241808317A>G - AGXT(NM_000030.2):c.35A>G (p.K12R), AGXT(NM_000030.3):c.35A>G (p.K12R) - AGXT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.107G>A r.(?) p.(Arg36His) Both (homozygous) ACMG pathogenic (recessive) g.241808389G>A - - - AGXT_000042 - Abid 2022, submitted ClinVar-204072 rs180177162 Germline - - - - - DNA SEQ - - HP1 1017 Abid 2022, submitted - M likely Pakistan Pakistan - - - - 1 Aiysha Abid
?/. - c.165G>C r.(?) p.(Gln55His) Unknown - VUS g.241808447G>C g.240869030G>C AGXT(NM_000030.2):c.165G>C (p.(Gln55His)) - AGXT_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165+16A>G r.(=) p.(=) Unknown - benign g.241808463A>G g.240869046A>G - - AGXT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.166-1_172dup r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.241808586_241808593dup g.240869169_240869176dup 165_172dupGATCATGG - AGXT_000027 - - - - Germline yes - - - - DNA SEQ Blood - HP1 - - - M yes Egypt white - - - - 1 Mohamed A. Elmonem
?/. - c.169A>G r.(?) p.(Met57Val) Unknown - VUS g.241808590A>G - AGXT(NM_000030.3):c.169A>G (p.(Met57Val)) - AGXT_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.174C>A r.(?) p.(Asp58Glu) Unknown - VUS g.241808595C>A - AGXT(NM_000030.3):c.174C>A (p.(Asp58Glu)) - AGXT_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.224C>A r.(?) p.(Thr75Lys) Both (homozygous) ACMG likely pathogenic (recessive) g.241808645C>A - - - AGXT_000053 - Abid 2022, submitted - - Germline ? - - - - DNA SEQ - - HP1 1031 Abid 2022, submitted - M yes Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 2 c.242C>G r.(?) p.(Ser81Trp) Unknown ACMG likely pathogenic (recessive) g.241808663C>G - - - AGXT_000050 - Abid 2022, submitted - - Germline ? - - - - DNA SEQ - - HP1 1028 Abid 2022, submitted - F ? Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 2 c.245G>A r.(?) p.(Gly82Glu) Both (homozygous) ACMG pathogenic g.241808666G>A - - - AGXT_000055 - Abid 2022, submitted ClinVar-5643 rs121908522 Germline yes - - - - DNA SEQ - - HP1 1005 Abid 2022, submitted - M likely Pakistan Pakistan - - - - 1 Aiysha Abid
-/. - c.264C>T r.(?) p.(Ala88=) Unknown - benign g.241808685C>T g.240869268C>T - - AGXT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.302T>C r.(?) p.(Leu101Pro) Parent #1 - likely pathogenic g.241808723T>C g.240869306T>C - - AGXT_000020 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs180177195 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 2 c.302T>C r.(?) p.(Leu101Pro) Both (homozygous) ACMG pathogenic (recessive) g.241808723T>C - - - AGXT_000020 - Abid 2022, submitted ClinVar-188866 rs180177195 Germline yes - - - - DNA SEQ - - HP1 1007 Abid 2022, submitted - M likely Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 2 c.324G>A r.(?) p.(Trp108*) Both (homozygous) ACMG pathogenic (recessive) g.241808745G>A - - - AGXT_000048 - Abid 2022, submitted - - Germline ? - - - - DNA SEQ - - HP1 1022 Abid 2022, submitted - M ? Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 2 c.326G>A r.(?) p.(Gly109Glu) Both (homozygous) ACMG pathogenic (recessive) g.241808747G>A - - - AGXT_000049 - Abid 2022, submitted - - Germline ? - - - - DNA SEQ - - HP1 1023 Abid 2022, submitted - M ? Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 2 c.331C>T r.(?) p.(Arg111*) Both (homozygous) ACMG pathogenic (recessive) g.241808752C>T - - - AGXT_000046 - Abid 2022, submitted ClinVar-204091 rs180177202 Germline ? - - - - DNA SEQ - - HP1 1020 Abid 2022, submitted - F ? Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. - c.332G>A r.(?) p.(Arg111Gln) Unknown - likely pathogenic g.241808753G>A g.240869336G>A AGXT(NM_000030.2):c.332G>A (p.R111Q)/c.815_816insGA(p.S275Rfs*38) - AGXT_000060 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 162 - - - DNA SEQ-NG-I blood - ? WHP62 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+?/. - c.346G>A r.(?) p.(Gly116Arg) Parent #1 - likely pathogenic g.241808767G>A g.240869350G>A - - AGXT_000021 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs180177207 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 2 c.346G>A r.(?) p.(Gly116Arg) Both (homozygous) ACMG pathogenic (recessive) g.241808767G>A - - - AGXT_000021 - Abid 2022, submitted - - Germline yes - - - - DNA SEQ - - HP1 1010 Abid 2022, submitted - M likely Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 2 c.352C>T r.(?) p.(Arg118Cys) Paternal (confirmed) ACMG likely pathogenic (recessive) g.241808773C>T - - - AGXT_000044 - Abid 2022, submitted ClinVar-204095 rs376844297 Germline ? - - - - DNA SEQ - - HP1 1019 Abid 2022, submitted - M no Pakistan Pakistan - - - - 1 Aiysha Abid
-/. - c.358+13C>T r.(=) p.(=) Unknown - benign g.241808792C>T g.240869375C>T - - AGXT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.359-3C>A r.spl? p.? Unknown - likely benign g.241810058C>A - AGXT(NM_000030.3):c.359-3C>A - AGXT_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.364C>T r.(?) p.(Arg122*) Both (homozygous) - pathogenic (recessive) g.241810066C>T g.240870649C>T - - AGXT_000012 - PubMed: Bruno 2011, Journal: Bruno 2011 - - Germline - - - - - DNA SEQ - - HP Pat7 PubMed: Bruno 2011, Journal: Bruno 2011 - - - Australia - - - - - 1 Damien Bruno
+/. 3 c.364C>T r.(?) p.(Arg122*) Both (homozygous) ACMG pathogenic (recessive) g.241810066C>T - - - AGXT_000012 - Abid 2022, submitted ClinVar-204097 - Germline yes - - - - DNA SEQ - - HP1 1008 Abid 2022, submitted - M likely Pakistan Pakistan - - - - 1 Aiysha Abid
?/. - c.385G>C r.(?) p.(Asp129His) Unknown - VUS g.241810087G>C - AGXT(NM_000030.3):c.385G>C (p.(Asp129His)) - AGXT_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.454T>A r.(?) p.(Phe152Ile) Unknown - pathogenic g.241810796T>A - AGXT(NM_000030.3):c.454T>A (p.F152I) - AGXT_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.454T>A r.(?) p.(Phe152Ile) Unknown - pathogenic g.241810796T>A - AGXT(NM_000030.3):c.454T>A (p.F152I) - AGXT_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.466G>C r.(?) p.(Gly156Arg) Both (homozygous) ACMG pathogenic (recessive) g.241810808G>C - - - AGXT_000041 - Abid 2022, submitted ClinVar-552979 rs121908530 Germline ? - - - - DNA SEQ - - HP1 1016 Abid 2022, submitted - M ? Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 4 c.469G>C r.(?) p.(Glu157Gln) Both (homozygous) ACMG likely pathogenic (recessive) g.241810811G>C - - - AGXT_000047 - Abid 2022, submitted - rs1359760798 Germline yes - - - - DNA SEQ - - HP1 1021 Abid 2022, submitted - M ? Pakistan Pakistan - - - - 1 Aiysha Abid
-?/. - c.489G>A r.(?) p.(Leu163=) Unknown - likely benign g.241810831G>A - AGXT(NM_000030.3):c.489G>A (p.L163=) - AGXT_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.497T>C r.(?) p.(Leu166Pro) Unknown - pathogenic g.241810839T>C - AGXT(NM_000030.3):c.497T>C (p.(Leu166Pro)) - AGXT_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.508G>A r.(?) p.(Gly170Arg) Unknown - pathogenic g.241810850G>A g.240871433G>A AGXT(NM_000030.3):c.508G>A (p.G170R) - AGXT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.508G>A r.(?) p.(Gly170Arg) Paternal (confirmed) ACMG pathogenic (recessive) g.241810850G>A g.240871433G>A - - AGXT_000010 ACMG PS1, PS4, PP3, PP4, PP5 PubMed: Marinakis 2021 - rs121908529 Germline - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 8059 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.508G>A r.(?) p.(Gly170Arg) Unknown - pathogenic g.241810850G>A - AGXT(NM_000030.3):c.508G>A (p.G170R) - AGXT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.508G>A r.(?) p.(Gly170Arg) Unknown - pathogenic g.241810850G>A - AGXT(NM_000030.3):c.508G>A (p.G170R) - AGXT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.519_520delinsGA r.(?) p.(Cys173_His174delinsTrpAsn) Both (homozygous) ACMG pathogenic (recessive) g.241810861_241810862delinsGA g.240871444_240871445delinsGA - - AGXT_000054 - Abid 2022, submitted ClinVar-204188 rs180177233 Germline yes - - - - DNA SEQ-NG-IT - - HP1 1003 Abid 2022, submitted familial M yes Pakistan Asia-S >11y - - - 2 Aiysha Abid
+/. 4 c.519_520delinsGA r.(?) p.(Cys173_His174delinsTrpAsn) Both (homozygous) ACMG pathogenic (recessive) g.241810861_241810862delinsGA g.240871444_240871445delinsGA 519_520delCCinsGA - AGXT_000054 - Abid 2022, submitted ClinVar-204188 rs180177233 Germline yes - - - - DNA SEQ-NG-IT - - HP1 1004 Abid 2022, submitted - M yes Pakistan Asia-S - - - - 2 Aiysha Abid
+?/. 5 c.536T>C r.(?) p.(Leu179Pro) Both (homozygous) ACMG VUS g.241812407T>C g.240872990T>C - - AGXT_000051 - Abid 2022, submitted - - Germline yes - - - - DNA SEQ - - HP1 1027 Abid 2022, submitted - M ? Pakistan Pakistan - - - - 1 Aiysha Abid
-/. - c.557C>T r.(?) p.(Ala186Val) Unknown - benign g.241812428C>T - AGXT(NM_000030.3):c.557C>T (p.A186V) - AGXT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.557C>T r.(?) p.(Ala186Val) Unknown - likely pathogenic g.241812428C>T g.240873011C>T AGXT (NM_000030.2):c.557C>T (p.A186V)/c.590G>A(p.R197Q); OCRL(NM_000276.3):c.808G>A(p.D270N) - AGXT_000025 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 208 - - - DNA SEQ-NG-I blood - ? WHP108 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+?/. - c.560C>T r.(?) p.(Ser187Phe) Parent #1 - likely pathogenic g.241812431C>T g.240873014C>T - - AGXT_000022 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs180177238 Germline - 1/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 5 c.568G>A r.(?) p.(Gly190Arg) Both (homozygous) ACMG pathogenic (recessive) g.241812439G>A - - - AGXT_000038 - Abid 2022, submitted - - Germline yes - - - - DNA SEQ - - HP1 1013 Abid 2022, submitted - M likely Pakistan Pakistan - - - - 1 Aiysha Abid
-?/. - c.573C>T r.(?) p.(Thr191=) Unknown - likely benign g.241812444C>T - AGXT(NM_000030.3):c.573C>T (p.T191=) - AGXT_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.577dup r.(?) p.(Leu193Profs*32) Both (homozygous) ACMG pathogenic (recessive) g.241812448dup g.240873031dup 577dupC - AGXT_000056 - Abid 2022, submitted ClinVar-204192 rs180177241 Germline yes - - - - DNA SEQ - - HP1 1008 Abid 2022, submitted - M likely Pakistan Pakistan - - - - 1 Aiysha Abid
?/. - c.590G>A r.(?) p.(Arg197Gln) Unknown - VUS g.241812461G>A g.240873044G>A - - AGXT_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.590G>A r.(?) p.(Arg197Gln) Unknown - likely pathogenic g.241812461G>A g.240873044G>A AGXT (NM_000030.2):c.557C>T (p.A186V)/c.590G>A(p.R197Q); OCRL(NM_000276.3):c.808G>A(p.D270N) - AGXT_000001 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 208 - - - DNA SEQ-NG-I blood - ? WHP108 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+/. 5 c.595+2T>G r.spl p.? Both (homozygous) ACMG likely pathogenic (recessive) g.241812468T>G - - - AGXT_000039 - Abid 2022, submitted - - Germline - - - - - DNA SEQ - - HP1 1014 Abid 2022, submitted - M ? Pakistan Pakistan - - - - 1 Aiysha Abid
+/. - c.596-2A>G r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.241813393A>G g.240873976A>G - - AGXT_000052 - Abid 2022, submitted ClinVar-204166 rs180177245 Germline yes - - - - DNA SEQ - - HP1 1002 Abid 2022, submitted 2-generation family suffering from hyperoxaluria, primary, type I (HP1) M likely Pakistan Pakistan - - - - 1 Aiysha Abid
?/. - c.614C>T r.(?) p.(Ser205Leu) Unknown - VUS g.241813413C>T g.240873996C>T - - AGXT_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 6 c.614C>T r.(?) p.(Ser205Leu) Both (homozygous) ACMG pathogenic (recessive) g.241813413C>T - - - AGXT_000002 - Abid 2022, submitted ClinVar-204118 rs180177248 Germline yes - - - - DNA SEQ - - HP1 1029 Abid 2022, submitted - M yes Pakistan Pakistan - - - - 1 Aiysha Abid
-/. - c.654G>A r.(?) p.(=) Unknown - benign g.241813453G>A - - - AGXT_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.680+1G>T r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.241813480G>T - - - AGXT_000057 - Abid 2022, submitted - - Germline yes - - - - DNA SEQ - - HP1 1025 Abid 2022, submitted - M likely Pakistan Pakistan - - - - 1 Aiysha Abid
-/. - c.680+17C>T r.(=) p.(=) Unknown - benign g.241813496C>T g.240874079C>T - - AGXT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.681-94G>A r.(=) p.(=) Unknown - benign g.241814432G>A g.240875015G>A AGXT(NM_000030.3):c.681-94G>A - AGXT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705G>A r.(?) p.(Thr235=) Unknown - likely benign g.241814550G>A - AGXT(NM_000030.3):c.705G>A (p.T235=) - AGXT_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.717C>T r.(?) p.(Ser239=) Unknown - likely benign g.241814562C>T - AGXT(NM_000030.2):c.717C>T (p.S239=), AGXT(NM_000030.3):c.717C>T (p.S239=) - AGXT_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.717C>T r.(?) p.(Ser239=) Unknown - likely benign g.241814562C>T - AGXT(NM_000030.2):c.717C>T (p.S239=), AGXT(NM_000030.3):c.717C>T (p.S239=) - AGXT_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.731T>C r.(?) p.(Ile244Thr) Unknown - pathogenic g.241814576T>C - AGXT(NM_000030.3):c.731T>C (p.I244T) - AGXT_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.743C>T r.(?) p.(Ala248Val) Unknown - VUS g.241814588C>T - AGXT(NM_000030.3):c.743C>T (p.A248V) - AGXT_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.766del r.(?) p.(Gln256Serfs*17) Both (homozygous) ACMG pathogenic (recessive) g.241814611del g.240875194del 766delC - AGXT_000028 - - - - Germline yes - - - - DNA SEQ Blood - HP1 - - - M yes (Egypt) - - - - - 1 Mohamed A. Elmonem
+?/. 8 c.779A>G r.(?) p.(Tyr260Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.241815354A>G - - - AGXT_000058 - Abid 2022, submitted - rs1430414907 Germline yes - - - - DNA SEQ - - HP1 1024 Abid 2022, submitted - F yes Pakistan Pakistan - - - - 1 Aiysha Abid
-?/. - c.805C>T r.(?) p.(Leu269=) Unknown - likely benign g.241815380C>T - AGXT(NM_000030.3):c.805C>T (p.L269=) - AGXT_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.823_824dup r.(?) p.(Ser275Argfs*38) Unknown - likely pathogenic g.241815398_241815399dup g.240875981_240875982dup AGXT(NM_000030.2):c.332G>A (p.R111Q)/c.815_816insGA(p.S275Rfs*38) - AGXT_000061 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 162 - - - DNA SEQ-NG-I blood - ? WHP62 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+?/. 8 c.827T>A r.(?) p.(Leu276Gln) Maternal (confirmed) ACMG likely pathogenic (recessive) g.241815402T>A - - - AGXT_000045 - Abid 2022, submitted - - Germline ? - - - - DNA SEQ - - HP1 1019 Abid 2022, submitted - M no Pakistan Pakistan - - - - 1 Aiysha Abid
-?/. - c.839C>T r.(?) p.(Ala280Val) Unknown - likely benign g.241815414C>T - AGXT(NM_000030.3):c.839C>T (p.A280V) - AGXT_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.847-11C>T r.(=) p.(=) Unknown - likely benign g.241816943C>T - AGXT(NM_000030.3):c.847-11C>T - AGXT_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.847-3C>G r.spl? p.? Unknown - VUS g.241816951C>G - AGXT(NM_000030.2):c.847-3C>G, AGXT(NM_000030.3):c.847-3C>G - AGXT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.847-3C>G r.spl p.? Maternal (confirmed) ACMG pathogenic (recessive) g.241816951C>G g.240877534C>G - - AGXT_000026 ACMG PS4, PM2, PP4, PP5 PubMed: Marinakis 2021 - rs180177286 Germline - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 8059 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.847-3C>G r.spl? p.? Unknown - pathogenic g.241816951C>G - AGXT(NM_000030.2):c.847-3C>G, AGXT(NM_000030.3):c.847-3C>G - AGXT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.858C>G r.(?) p.(Asn286Lys) Both (homozygous) ACMG VUS g.241816965C>G - - - AGXT_000040 - Abid 2022, submitted - - Germline yes - - - - DNA SEQ - - HP1 1015 Abid 2022, submitted - M likely Pakistan Pakistan - - - - 1 Aiysha Abid
-?/. - c.866G>A r.(?) p.(Arg289His) Unknown - likely benign g.241816973G>A - AGXT(NM_000030.2):c.866G>A (p.R289H) - AGXT_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.917G>T r.(?) p.(Gly306Val) Both (homozygous) ACMG likely pathogenic (recessive) g.241817024G>T - - - AGXT_000037 - Abid 2022, submitted - - Germline ? - - - - DNA SEQ - - HP1 1033 Abid 2022, submitted - F likely Pakistan Pakistan - - - - 1 Aiysha Abid
-?/. - c.941C>T r.(?) p.(Pro314Leu) Unknown - likely benign g.241817048C>T - AGXT(NM_000030.2):c.941C>T (p.P314L), AGXT(NM_000030.3):c.941C>T (p.(Pro314Leu)) - AGXT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.941C>T r.(?) p.(Pro314Leu) Unknown - VUS g.241817048C>T - AGXT(NM_000030.2):c.941C>T (p.P314L), AGXT(NM_000030.3):c.941C>T (p.(Pro314Leu)) - AGXT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.942+12C>G r.(=) p.(=) Unknown - likely benign g.241817061C>G - AGXT(NM_000030.3):c.942+12C>G - AGXT_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.976G>A r.(?) p.(Val326Ile) Unknown - likely benign g.241817472G>A - AGXT(NM_000030.3):c.976G>A (p.V326I) - AGXT_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1015del r.(?) p.(Val339Serfs*2) Both (homozygous) - likely pathogenic g.241817511del g.240878094del AGXT(NM_000030.2):c.1015delG(p.V339Sfs*2) - AGXT_000062 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 240 - - - DNA SEQ-NG-I blood - ? WHP140 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+?/. - c.1049G>A r.(?) p.(Gly350Asp) Parent #1 - likely pathogenic g.241817545G>A g.240878128G>A - - AGXT_000023 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs180177156 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 10 c.1049G>A r.(?) p.(Gly350Asp) Both (homozygous) ACMG pathogenic (recessive) g.241817545G>A - - - AGXT_000023 - Abid 2022, submitted ClinVar-188986 rs180177156 Germline yes - - - - DNA SEQ - - HP1 1006 Abid 2022, submitted - F likely Pakistan Pakistan - - - - 1 Aiysha Abid
-?/. - c.1072-16G>A r.(=) p.(=) Unknown - likely benign g.241818115G>A - AGXT(NM_000030.3):c.1072-16G>A - AGXT_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1087_1095del r.(?) p.(Leu363_Gly365del) Both (homozygous) ACMG likely pathogenic (recessive) g.241818146_241818154del g.240878729_240878737del 1087_1095delCTGCTGGGC - AGXT_000059 - Abid 2022, submitted - - Germline yes - - - - DNA SEQ - - HP1 1011 Abid 2022, submitted - F yes Pakistan Pakistan >11y - - - 1 Aiysha Abid
?/. - c.1109G>A r.(?) p.(Arg370His) Unknown - VUS g.241818168G>A - AGXT(NM_000030.3):c.1109G>A (p.(Arg370His)) - AGXT_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1126G>A r.(?) p.(Val376Met) Unknown - VUS g.241818185G>A - AGXT(NM_000030.3):c.1126G>A (p.(Val376Met)) - AGXT_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1142G>A r.(?) p.(Arg381Lys) Unknown - likely benign g.241818201G>A - AGXT(NM_000030.3):c.1142G>A (p.(Arg381Lys), p.R381K) - AGXT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1142G>A r.(?) p.(Arg381Lys) Unknown - VUS g.241818201G>A - AGXT(NM_000030.3):c.1142G>A (p.(Arg381Lys), p.R381K) - AGXT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1157del r.(?) p.(His386Profs*?) Both (homozygous) ACMG likely pathogenic (recessive) g.241818216del g.240878799del 1157delA - AGXT_000043 - Abid 2022, submitted - - Germline - - - - - DNA SEQ - - HP1 1018 Abid 2022, submitted - F likely Pakistan Pakistan - - - - 1 Aiysha Abid
-?/. - c.1170G>A r.(?) p.(=) Unknown - likely benign g.241818229G>A - AGXT(NM_000030.3):c.1170G>A (p.K390=) - AGXT_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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