Unique variants in the G6PD gene

NOTE: when referring to this database please cite Minucci 2012.
Information The variants shown are described using the transcript reference sequence.

259 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Protein level     

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     

Owner     
+?/., ?/. 3 - c.-17550T>C r.(?) p.(=) - - - likely pathogenic, VUS g.153792635A>G g.154564420A>G 1 more item - IKBKG_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.-17498G>A r.(?) p.(=) - - - likely benign g.153792583C>T g.154564368C>T IKBKG(NM_001099857.5):c.1167C>T (p.P389=) - IKBKG_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-17161C>T r.(?) p.(=) - - - likely benign g.153792246G>A g.154564031G>A IKBKG(NM_001099857.5):c.1117+11G>A - IKBKG_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.-17108G>A r.(?) p.(=) - - - VUS g.153792193C>T g.154563978C>T IKBKG(NM_001099857.5):c.1075C>T (p.R359W) - IKBKG_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.-17083A>G r.(?) p.(=) - - - benign g.153792168T>C g.154563953= IKBKG(NM_001099857.3):c.1056-6T>C, IKBKG(NM_001099857.4):c.1056-6T>C - IKBKG_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 2 - c.-17073C>G r.(?) p.(=) - - - likely benign g.153792158G>C g.154563943G>C IKBKG(NM_001099857.3):c.1056-16G>C, IKBKG(NM_001099857.4):c.1056-16G>C - IKBKG_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.-9525C>G r.(?) p.(=) - - - likely benign g.153784610G>C g.154556395G>C IKBKG(NM_001099857.5):c.399+19G>C - IKBKG_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 2 - c.-9444C>T r.(?) p.(=) - - - likely benign, VUS g.153784529G>A g.154556314G>A IKBKG(NM_001099857.4):c.337G>A (p.D113N), IKBKG(NM_001099857.5):c.337G>A (p.D113N) - IKBKG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/., -?/., ?/. 4 - c.-5301C>T r.(?) p.(=) - - - benign, likely benign, VUS g.153780386G>A g.154552171G>A 1 more item - IKBKG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.-5289G>A r.(?) p.(=) - - - VUS g.153780374C>T g.154552159C>T IKBKG(NM_001099857.2):c.157C>T (p.R53C) - IKBKG_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-5289G>T r.(?) p.(=) - - - VUS g.153780374C>A g.154552159C>A IKBKG(NM_001099856.3):c.361C>A (p.(Arg121Ser)) - IKBKG_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-5283G>A r.(?) p.(=) - - - likely benign g.153780368C>T g.154552153C>T IKBKG(NM_001099857.2):c.151C>T (p.L51F) - IKBKG_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-5276A>T r.(?) p.(=) - - - likely benign g.153780361T>A - IKBKG(NM_001099857.2):c.144T>A (p.P48=) - IKBKG_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-5270G>A r.(?) p.(=) - - - likely benign g.153780355C>T g.154552140C>T IKBKG(NM_001099857.2):c.138C>T (p.G46=) - IKBKG_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-5216G>T r.(?) p.(=) - - - likely benign g.153780301C>A g.154552086C>A IKBKG(NM_001099857.2):c.84C>A (p.G28=) - IKBKG_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-5164C>T r.(?) p.(=) - - - VUS g.153780249G>A - IKBKG(NM_001099857.2):c.32G>A (p.C11Y) - IKBKG_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 _1 c.-5146A>C r.(?) p.(=) - - - VUS g.153780231T>G g.154552016T>G IKBKG(NM_001099856.3):c.218T>G (p.(Leu73Arg)) - IKBKG_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 _1 c.-5119G>A r.(?) p.(=) - - - likely benign g.153780204C>T g.154551989C>T IKBKG(NM_001099856.4):c.191C>T (p.P64L) - IKBKG_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 _1_13_ c.-148_*609[2] r.? p.? - - - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_13_ c.-148_*609[2] r.? p.? - - - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-15G>C r.(=) p.(=) - - - likely benign g.153775100C>G - G6PD:c.-9+583G>C - IKBKG_000142 - PubMed: Maranhao 2015 - - Germline - 5/25 families - - - LOVD
+/. 2 _1_13_ c.-148_(*1_?){0} r.0? p.0? - - - pathogenic (dominant) g.(153750000_153757815)_(153803560_153815000)del, g.(153750000_153757815)_(153821090_153830000)del - - - IKBKG_000105, IKBKG_000106 45.7kb deletion, 63.2kb deletion PubMed: Fusco 2012, PubMed: Fusco et al. 2012 - - De novo - - - - - Francesca Fusco
+/. 1 _1_2i c.-148_(210+4764_211-1){0} r.0? p.0? - - - pathogenic (dominant) g.(153764394_153769487)_(153796055_153800000)del - - - IKBKG_000107 26,6kb deletion PubMed: Fusco 2012 - - Germline/De novo (untested) - - - - - Francesca Fusco
+/. 2 _1_5i c.-148_(575+1_576-1){0} r.0? p.0? - - - pathogenic (dominant) g.(153762712_153763394)_(153828643_153835000)del, g.(153762712_153763394)_(153878592_153890000)del - - - IKBKG_000103, IKBKG_000104 115kb deletion, 65.2kb deletion PubMed: Fusco 2012 - - Germline/De novo (untested) - - - - - Francesca Fusco
+/. 2 _1_1i c.-148_(83-36_83-1){0} r.0? p.0? - - - pathogenic (dominant) g.(153770000_153774414)_(153776269_1537850000)del, g.(153774000_153774414)_(153796632_153800000)del - - - IKBKG_000108 22.2kb deletion, 4.6kb deletion PubMed: Fusco 2012 - - Germline/De novo (untested) - - - - - Francesca Fusco
-?/. 1 1 c.20C>T r.(?) p.(Ala7Val) - - - likely benign g.153775066G>A g.154546851G>A G6PD(NM_000402.4):c.20C>T (p.A7V) - IKBKG_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.39A>C r.(?) p.(Thr13=) - - - likely benign g.153775047T>G - G6PD(NM_000402.4):c.39A>C (p.T13=) - IKBKG_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 1 c.48C>T r.(?) p.(Gly16=) - - - likely benign g.153775038G>A g.154546823G>A G6PD(NM_000402.4):c.48C>T (p.G16=) - IKBKG_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 1 c.59G>T r.(?) p.(Gly20Val) - - - likely benign g.153775027C>A g.154546812C>A G6PD(NM_000402.4):c.59G>T (p.G20V) - IKBKG_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 1 c.71G>T r.(?) p.(Arg24Leu) - - - benign g.153775015C>A g.154546800C>A G6PD(NM_000402.4):c.71G>T (p.R24L) - IKBKG_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.82+5C>G r.spl? p.? - - - likely benign g.153774999G>C - G6PD(NM_001042351.2):c.-8-621C>G - IKBKG_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 3 1i c.82+7G>C r.(=) p.(=) - - - likely benign, VUS g.153774997C>G g.154546782C>G G6PD(NM_000402.4):c.82+7G>C (, p.(=)) - IKBKG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.82+10C>G r.(=) p.(=) - - - likely benign g.153774994G>C - G6PD(NM_000402.4):c.82+10C>G - IKBKG_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.97G>A r.(?) p.(Glu33Lys) - - - pathogenic (recessive) g.153774364C>T g.154546149C>T - - G6PD_000181 - PubMed: Hue 2009 - - Germline - - - - - Ettore Capoluongo
?/. 1 - c.115C>T r.(?) p.(Arg39Trp) - - - VUS g.153774346G>A g.154546131G>A - - IKBKG_000094 - PubMed: Hamada 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.124G>T r.(?) p.(Val42Leu) - - - pathogenic (recessive) g.153774337C>A g.154546122C>A - - G6PD_000128 WHO classification-Class III PubMed: Galanello 1997 - - Germline - - BsrI+ - - Ettore Capoluongo
+/. 1 2 c.130G>A r.(?) p.(Gly44Arg) - - - pathogenic (recessive) g.153774331C>T g.154546116C>T - - G6PD_000122 WHO classification-Class III PubMed: Weimer 1998 - - Germline - - HpyCH4V+ - - Ettore Capoluongo
+/. 1 2 c.184C>G r.(?) p.(His62Asp) - - - pathogenic (recessive) g.153774277G>C g.154546062G>C - - G6PD_000171 - PubMed: Nuchprayoon 2008 - - Germline - - - - - Ettore Capoluongo
+/. 1451 2 c.185A>G r.(?) p.(His62Arg) - - - pathogenic, pathogenic (recessive) g.153774276T>C g.154546061T>C - - G6PD_000037 WHO classification-Class III Zou 2019, submitted, PubMed: Chao 1991 - - Germline - - - - - Ettore Capoluongo, Lin Zou, Sha Hong
+/. 3 2 c.189A>G r.(?) p.(Ile63Met) - - - pathogenic, pathogenic (recessive) g.153774272T>C g.154546057T>C - - G6PD_000060 WHO classification-Class I, 1 more item PubMed: Hirono 1995 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Ettore Capoluongo
+/. 1 2 c.198_200del r.(?) p.(Ile66del) - - - pathogenic (recessive) g.153774268_153774270del g.154546053_154546055del 105_107delCAT - G6PD_000042 WHO classification-Class I PubMed: MacDonald 1991 - - Germline - - FokI+;HhaI- - - Ettore Capoluongo
+/. 1 2 c.200T>C r.(?) p.(Met67Thr) - - - pathogenic (recessive) g.153774261A>G g.154546046A>G - - G6PD_000104 - PubMed: Vulliamy 1997 - - Germline - - - - - Ettore Capoluongo
-/., ?/. 2 2i c.210+7A>C r.(=) p.(=) - - - benign, VUS g.153774244T>G g.154546029T>G G6PD(NM_000402.4):c.210+7A>C (, p.(=)) - IKBKG_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 2i c.210+3622T>C r.(=) p.(=) - - - likely benign g.153770629A>G g.154542414A>G IKBKG(NM_001099856.4):c.151A>G (p.T51A) - IKBKG_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 2i c.210+3625G>A r.(=) p.(=) - - - benign g.153770626C>T g.154542411C>T IKBKG(NM_001099856.4):c.148C>T (p.R50C) - G6PD_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 2i c.210+3661C>T r.(=) p.(=) - - - VUS g.153770590G>A g.154542375G>A IKBKG(NM_001099856.4):c.112G>A (p.E38K) - IKBKG_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 2i c.210+3754C>T r.(=) p.(=) - - - likely benign, VUS g.153770497G>A g.154542282G>A IKBKG(NM_001099856.4):c.19G>A (p.V7M), IKBKG(NM_001099856.6):c.19G>A (p.V7M) - G6PD_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 2i c.210+3762A>G r.(=) p.(=) - - - VUS g.153770489T>C g.154542274T>C IKBKG(NM_001099856.4):c.11T>C (p.V4A) - IKBKG_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 3 c.220G>A r.(?) p.(Ala74Thr) - - - pathogenic, pathogenic (recessive) g.153764384C>T g.154536169C>T - - G6PD_000168 WHO classification-Class III Zou 2019, submitted, PubMed: Minucci 2007 - - Germline - - HaeIII- - - Ettore Capoluongo, Lin Zou
+/., -?/. 5 3 c.221C>G r.(?) p.(Ala74Gly) - - - likely benign, pathogenic, pathogenic (recessive) g.153764383G>C g.154536168G>C G6PD(NM_000402.4):c.221C>G (p.A74G) - G6PD_000091 11 heterozygous; Clinindb (India), 16 homozygous; Clinindb (India), WHO classification-Class III, 2 more items PubMed: Kaeda 1995, PubMed: Narang 2020, Journal: Narang 2020 - rs78478128 CLASSIFICATION record, Germline, SUMMARY record - 11/2793 individuals, 16/2793 individuals HaeIII- - - Johan den Dunnen, Ettore Capoluongo, VKGL-NL_Rotterdam, Mohammed Faruq
+/. 4 3 c.233T>C r.(?) p.(Ile78Thr) - - - pathogenic, pathogenic (recessive) g.153764371A>G g.154536156A>G - - G6PD_000090 WHO classification-Class II: severe enzyme deficiency with <0.10 normal activity, 1 more item Zou 2019, submitted, PubMed: Nafa 1993 - - Germline, SUMMARY record - - DpnI- - - Johan den Dunnen, Ettore Capoluongo, Lin Zou
+/. 1 3 c.238C>T r.(?) p.(Pro80Ser) - - - pathogenic (recessive) g.153764366G>A g.154536151G>A - - G6PD_000155 WHO classification-Class III PubMed: Drousiotou 2004 - - Germline - - - - - Ettore Capoluongo
+/. 1 - c.242C>T r.(?) p.(Thr81Ile) - - - pathogenic g.153764362G>A g.154536147G>A - - G6PD_000216 - Zou 2019, submitted - - Germline - - - - - Lin Zou
+/. 2 4 c.249G>C r.spl? p.(Trp83Cys) - - - pathogenic (recessive) g.153764260C>G g.154536045C>G - - G6PD_000138 WHO classification-Class I, 1 more item PubMed: Beutler 2002 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Ettore Capoluongo
+/. 1 4 c.259C>T r.(?) p.(Arg87Trp) - - - pathogenic (recessive) g.153764250G>A g.154536035G>A - - G6PD_000139 WHO classification-Class II PubMed: Beutler 2002 - - Germline - - - - - Ettore Capoluongo
+/. 1 4 c.260G>A r.(?) p.(Arg87Gln) - - - pathogenic (recessive) g.153764249C>T g.154536034C>T - - G6PD_000192 WHO classification-Class III - - - Germline - - - - - Ettore Capoluongo
+/., -?/. 3 4 c.262G>A r.(?) p.(Asp88Asn) - - - likely benign, pathogenic (recessive) g.153764247C>T g.154536032C>T - - G6PD_000001 WHO classification-Class III, 1 more item PubMed: Vulliamy 1988, OMIM:var0007 - - Germline, SUMMARY record - - BspEI+ - - Johan den Dunnen, Ettore Capoluongo
-/. 1 4 c.268C>T r.(?) p.(Leu90Phe) - - - benign g.153764241G>A g.154536026G>A - - G6PD_000188 - - - - Germline - - - - - Ettore Capoluongo
+/. 1 - c.269T>C r.(?) p.(Leu90Pro) - - - pathogenic g.153764240A>G g.154536025A>G - - G6PD_000237 WHO classification-Class II Minucci, 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.270_272del r.(?) p.(Leu91del) - - - pathogenic (recessive) g.153764239_153764241del g.154536024_154536026del 180_182delTCT - G6PD_000152 WHO classification-Class I PubMed: van Bruggen 2002 - - Germline - - - - - Ettore Capoluongo
+/. 1 - c.275C>A r.(?) p.(Pro92His) - - - pathogenic g.153764234G>T g.154536019G>T - - G6PD_000236 WHO classification-Class II PubMed: Hamel 2002 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.275C>T r.(?) p.(Pro92Leu) - - - pathogenic (recessive) g.153764234G>A g.154536019G>A - - G6PD_000096 WHO classification-Class III, 1 more item PubMed: Hirono 1997 - - Germline, SUMMARY record - - TaqI+ - - Johan den Dunnen, Ettore Capoluongo
+/. 6 4 c.286T>A r.(?) p.(Phe96Ile) - - - pathogenic, pathogenic (recessive) g.153764223A>T g.154536008A>T - - G6PD_000159 WHO classification-Class II Zou 2019, submitted, PubMed: Laosombat 2005 - - Germline - - MslI+ - - Ettore Capoluongo, Lin Zou
+/., +?/. 10 4 c.292G>A r.(?) p.(Val98Met) - - - likely pathogenic, pathogenic, pathogenic (recessive) g.153764217C>T g.154536002C>T G6PD(NM_000402.4):c.292G>A (p.V98M), 1 more item - G6PD_000002 VKGL data sharing initiative Nederland, WHO classification-Class II, WHO classification-Class III, 1 more item Zou 2019, submitted, PubMed: McDade 2008, PubMed: Vulliamy 1988, PubMed: Yan 2006 - rs1050828 CLASSIFICATION record, Germline, SUMMARY record - - NlaIII- - - Johan den Dunnen, Ettore Capoluongo, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc, Lin Zou
+/., +?/. 3 4 c.298T>C r.(?) p.(Tyr100His) - - - likely pathogenic, pathogenic (recessive) g.153764211A>G g.154535996A>G - - G6PD_000068 WHO classification-Class II, 1 more item PubMed: Ganczakowski 1995 - rs137852349 Germline, Germline/De novo (untested), SUMMARY record - - NlaIII+ - - Johan den Dunnen, Ettore Capoluongo, A.Arun Kumar
+/. 2 4 c.299A>G r.(?) p.(Tyr100Cys) - - - pathogenic (recessive) g.153764210T>C g.154535995T>C - - G6PD_000055 WHO classification-Class II: severe enzyme deficiency with <0.10 normal activity, 1 more item PubMed: Rovira 1995 - - Germline, SUMMARY record - - Bsp1286I+ - - Johan den Dunnen, Ettore Capoluongo
+/. 2 4 c.314T>C r.(?) p.(Leu105Pro) - - - pathogenic (recessive) g.153764195A>G g.154535980A>G - - G6PD_000076 WHO classification-Class I, 1 more item PubMed: Vulliamy 1993 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Ettore Capoluongo
+/. 4 4 c.331C>T r.(?) p.(Arg111Cys) - - - pathogenic, pathogenic (recessive) g.153764178G>A g.154535963G>A G6PD-Konan;Ube - G6PD_000077 WHO classification-Class III, 1 more item Zou 2019, submitted, PubMed: Vulliamy 1993 - - Germline, SUMMARY record - - AciI- - - Johan den Dunnen, Ettore Capoluongo, Lin Zou
+/. 2 4 c.332G>A r.(?) p.(Arg111His) - - - pathogenic (recessive) g.153764177C>T g.154535962C>T - - G6PD_000078 WHO classification-Class III, 1 more item PubMed: Vulliamy 1993 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Ettore Capoluongo
+/. 1 5 c.364C>T r.(?) p.(Pro122Ser) - - - pathogenic (recessive) g.153763594G>A g.154535379G>A - - G6PD_000162 WHO classification-Class III PubMed: Jiang 2006 - - Germline - - DdeI+ - - Ettore Capoluongo
+/. 1 5 c.373_375del r.(?) p.(Lys125del) - - - pathogenic (recessive) g.153763585_153763587del g.154535370_154535372del 281_283delAGA - G6PD_000071 WHO classification-Class I PubMed: Hirono 1995 - - Germline - - - - - Ettore Capoluongo
?/. 2 - c.380A>T r.(?) p.(Lys127Met) - - - VUS g.153763578T>A g.154535363T>A - - G6PD_000235 WHO classification-Class IIV Zou 2019, submitted - - Germline - - - - - Lin Zou
+/., ?/. 3 5 c.401G>A r.(?) p.(Arg134His) - - - pathogenic, pathogenic (recessive), VUS g.153763557C>T g.154535342C>T - - G6PD_000177, G6PD_000185 nonrecurrent change Zou 2019, submitted, PubMed: Jalloh 2008, PubMed: Tarpey 2009 - - Germline - - - - - Lucy Raymond, Ettore Capoluongo, Lin Zou
+/. 3 5 c.407C>G r.(?) p.(Ser136Cys) - - - pathogenic, pathogenic (recessive) g.153763551G>C g.154535336G>C - - G6PD_000020 WHO classification-Class I, 1 more item PubMed: Maeda 1992, PubMed: Maede 1992 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Ettore Capoluongo
?/. 1 - c.407C>T r.(?) p.(Ser136Phe) - - - VUS g.153763551G>A g.154535336G>A G6PD(NM_000402.4):c.407C>T (p.S136F) - G6PD_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 5 c.413T>A r.(?) p.(Val138Glu) - - - pathogenic (recessive) g.153763545A>T g.154535330A>T - - G6PD_000105 WHO classification-Class III, 1 more item PubMed: Vulliamy 1997 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Ettore Capoluongo
+/., -?/. 2 5 c.427G>A r.(?) p.(Asp143Asn) - - - benign (!), pathogenic (recessive) g.153763531C>T g.154535316C>T - - G6PD_000014, G6PD_000086 WHO classification-Class IV, 1 more item PubMed: Weimer 1993 - rs5030870 Germline, SUMMARY record - - - - - Johan den Dunnen, Ettore Capoluongo
+/. 1 - c.442T>C r.(?) p.(Tyr148His) - - - pathogenic g.153763516A>G g.154535301A>G - - G6PD_000234 - PubMed: Matsuoka 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.461A>G r.(?) p.(His154Arg) - - - pathogenic (recessive) g.153763497T>C g.154535282T>C - - G6PD_000124 - PubMed: Chen 1998 - - Germline - - - - - Ettore Capoluongo
?/. 1 - c.465G>T r.(?) p.(Met155Ile) - - - VUS g.153763493C>A g.154535278C>A - - G6PD_000233 - PubMed: Hamel 2002 - - Germline - - - - - Johan den Dunnen
+/., -?/., ?/. 14 5 c.466A>G r.(?) p.(Asn156Asp) - - - likely benign, pathogenic, pathogenic (recessive), VUS g.153763492T>C g.154535277T>C G6PD(NM_000402.4):c.466A>G (p.N156D), G6PD(NM_001042351.2):c.376A>G (p.N126D), 1 more item - G6PD_000003 allele WHO classification-Class II, allele WHO classification-Class III, 2 more items PubMed: Beutler 1989, PubMed: Beutler 1991, PubMed: Cittadella 1997, PubMed: Hamel 2002, 4 more items - rs1050829 CLASSIFICATION record, Germline, SUMMARY record - - FokI+ - - Johan den Dunnen, Ettore Capoluongo, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.469G>T r.(?) p.(Ala157Ser) - - - VUS g.153763489C>A g.154535274C>A - - G6PD_000232 - PubMed: Hamel 2002 - - Germline - - - - - Johan den Dunnen
+/. 5 5 c.473T>C r.(?) p.(Leu158Pro) - - - pathogenic, pathogenic (recessive) g.153763485A>G g.154535270A>G G6PD(NM_001042351.2):c.383T>C (p.L128P) - G6PD_000069 VKGL data sharing initiative Nederland, WHO classification-Class II, 1 more item Zou 2019, submitted, PubMed: Ganczakowski 1995 - - CLASSIFICATION record, Germline, SUMMARY record - - MnlI- - - Johan den Dunnen, Ettore Capoluongo, VKGL-NL_Utrecht, Lin Zou
+/. 1 5 c.473T>G r.(?) p.(Leu158Arg) - - - pathogenic (recessive) g.153763485A>C g.154535270A>C - - G6PD_000183 WHO classification-Class III PubMed: Minucci 2009 - - Germline - - - - - Ettore Capoluongo
+/. 1 - c.473_474delinsCT r.(?) p.(Leu158Pro) - - - pathogenic g.153763484_153763485delinsAG g.154535269_154535270delinsAG [383T>C;384C>T] - G6PD_000213 WHO classification-Class II PubMed: Hamel 2002 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.482G>A r.(?) p.(Gly161Glu) - - - VUS g.153763476C>T - G6PD(NM_000402.4):c.482G>A (p.G161E) - G6PD_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 254 5 c.482G>T r.(?) p.(Gly161Val) - - - pathogenic, pathogenic (recessive) g.153763476C>A g.154535261C>A - - G6PD_000079 WHO classification-Class III, 1 more item Zou 2019, submitted, PubMed: Vulliamy 1993 - - Germline, SUMMARY record - - DraIII+ - - Johan den Dunnen, Ettore Capoluongo, Lin Zou
+/., -?/. 2 5 c.494A>C r.(?) p.(Asn165Thr) - - - benign (!), pathogenic (recessive) g.153763464T>G g.154535249T>G - - G6PD_000140 1 more item PubMed: Beutler 2002 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Ettore Capoluongo
+/. 1 5 c.494A>G r.(?) p.(Asn165Ser) - - - pathogenic (recessive) g.153763464T>C g.154535249T>C - - G6PD_000180 - PubMed: Delbini 2008 - - Germline - - - - - Ettore Capoluongo
+/. 21 5 c.496C>T r.(496c>u), r.(?) p.(Arg166Cys) - - - pathogenic, pathogenic (recessive) g.153763462G>A g.154535247G>A - - G6PD_000102 WHO classification-Class II, 1 more item Zou 2019, submitted, PubMed: Zarza 1997 - - Germline, SUMMARY record yes - AciI- - - Johan den Dunnen, Ettore Capoluongo, Wenjuan Qiu, Lin Zou
+/. 1 - c.499C>T r.(?) p.(Leu167Phe) - - - pathogenic g.153763459G>A g.154535244G>A - - G6PD_000231 WHO classification-Class II Minucci, 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.532G>A r.(?) p.(Glu178Lys) - - - pathogenic (recessive) g.153763426C>T g.154535211C>T - - G6PD_000165 WHO classification-Class II PubMed: Yan 2006 - - Germline - - - - - Ettore Capoluongo
+/. 1 5 c.553C>A r.(?) p.(His185Asn) - - - pathogenic (recessive) g.153763405G>T g.154535190G>T - - G6PD_000131 - PubMed: Menounos 2000 - - Germline - - - - - Ettore Capoluongo
+/., ?/. 2 5 c.553C>G r.(?) p.(His185Asp) - - - pathogenic (recessive), VUS g.153763405G>C g.154535190G>C - - G6PD_000156 WHO classification-Class II PubMed: Drousiotou 2004, PubMed: Vives-Corrons 1990 - - Germline - - - - - Johan den Dunnen, Ettore Capoluongo
+/. 2 5 c.556G>A r.(?) p.(Glu186Lys) - - - pathogenic (recessive) g.153763402C>T g.154535187C>T - - G6PD_000004 WHO classification-Class III, 1 more item PubMed: Vulliamy 1988, OMIM:var0004 - - Germline, SUMMARY record - - Hinfl- - - Johan den Dunnen, Ettore Capoluongo
+/. 1 - c.563G>A r.(?) p.(Cys188Tyr) - - - pathogenic g.153763395C>T g.154535180C>T - - G6PD_000230 WHO classification-Class II PubMed: Chem 2010 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 3 5 c.567G>C r.(?) p.(Met189Ile) - - - likely benign, VUS g.153763391C>G g.154535176C>G G6PD(NM_000402.4):c.567G>C (p.M189I, p.(Met189Ile)) - G6PD_000197 VKGL data sharing initiative Nederland PubMed: Sarkar 2010 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 - c.569G>A r.(?) p.(Ser190Asn) - - - pathogenic g.153763389C>T g.154535174C>T - - G6PD_000229 - Zou 2019, submitted - - Germline - - - - - Lin Zou
-/. 1 - c.576-60C>G r.(=) p.(=) - - - benign g.153762771G>C g.154534556G>C G6PD(NM_001042351.2):c.486-60C>G - G6PD_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., ?/. 83 6 c.577G>A r.(?) p.(Gly193Ser) - - - pathogenic, pathogenic (recessive), VUS g.153762710C>T g.154534495C>T G6PD(NM_000402.4):c.577G>A (p.G193S) - G6PD_000047 3 homozygous; Clinindb (India), 5 heterozygous; Clinindb (India), WHO classification-Class III, 2 more items Zou 2019, submitted, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Vulliamy 1989 - rs137852314 CLASSIFICATION record, Germline, Germline/De novo (untested), SUMMARY record - 3/2795 individuals, 5/2795 individuals Alul+ - - Johan den Dunnen, Ettore Capoluongo, VKGL-NL_Rotterdam, A.Arun Kumar, Lin Zou, Mohammed Faruq
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