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Items: 50

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:153760298
GRCh38:
ChrX:154532083
G6PDP489S, P519Snot specifiedPathogenic
(Jul 24, 2018)
criteria provided, single submitter
2.
GRCh37:
ChrX:153760472
GRCh38:
ChrX:154532257
G6PDR463H, R493HInborn genetic diseases, not provided, Malaria, susceptibility to,
Anemia, nonspherocytic hemolytic, due to G6PD deficiency, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
ChrX:153760482
GRCh38:
ChrX:154532267
G6PDE490*, E460*Anemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(May 28, 2019)
criteria provided, single submitter
4.
GRCh37:
ChrX:153760484
GRCh38:
ChrX:154532269
G6PDR459fs, R489fsnot providedPathogenic
(Mar 23, 2020)
criteria provided, single submitter
5.
GRCh37:
ChrX:153760484
GRCh38:
ChrX:154532269
G6PDR459L, R489Lnot provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, G6PD deficiency
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
ChrX:153760484
GRCh38:
ChrX:154532269
G6PDR459P, R489Pnot provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, G6PD deficiency
Pathogenic
(Aug 12, 2021)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
ChrX:153760605
GRCh38:
ChrX:154532390
G6PDR454C, R484CAnemia, nonspherocytic hemolytic, due to G6PD deficiency, G6PD deficiency, not provided
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
ChrX:153760618
GRCh38:
ChrX:154532403
G6PDQ449H, Q479HAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(Aug 27, 2021)
criteria provided, single submitter
9.
GRCh37:
ChrX:153760626
GRCh38:
ChrX:154532411
G6PDG447R, G477Rnot providedPathogenic
(Oct 18, 2013)
criteria provided, single submitter
10.
GRCh37:
ChrX:153760647
GRCh38:
ChrX:154532432
G6PDL440F, L470Fnot specifiedPathogenic
(Oct 9, 2016)
criteria provided, single submitter
11.
GRCh37:
ChrX:153760649
GRCh38:
ChrX:154532434
G6PDR439P, R469Pnot providedPathogenic/Likely pathogenic
(Jul 23, 2017)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
ChrX:153760650
GRCh38:
ChrX:154532435
G6PDR439C, R469CMalaria, susceptibility toPathogenic
(Aug 12, 2021)
no assertion criteria provided
13.
GRCh37:
ChrX:153760840
GRCh38:
ChrX:154532625
G6PDG410D, G440DG6PD JAPAN, Anemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic; other
(May 24, 2017)
no assertion criteria provided
14.
GRCh37:
ChrX:153760877
GRCh38:
ChrX:154532662
G6PDE428K, E398KAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(May 28, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrX:153760889
GRCh38:
ChrX:154532674
G6PDV394L, V424LG6PD ALHAMBRA, Anemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic; other
(May 24, 2017)
no assertion criteria provided
16.
GRCh37:
ChrX:153760891
GRCh38:
ChrX:154532676
G6PDR393H, R423Hnot specified, Anemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
ChrX:153760909
GRCh38:
ChrX:154532694
G6PDR387H, R417HAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(Aug 27, 2021)
criteria provided, single submitter
18.
GRCh37:
ChrX:153760910
GRCh38:
ChrX:154532695
G6PDR387C, R417CG6PD GUADALAJARA, Anemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic; other
(May 24, 2017)
no assertion criteria provided
19.
GRCh37:
ChrX:153760913
GRCh38:
ChrX:154532698
G6PDK386E, K416Enot providedPathogenic
(Dec 7, 2017)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
ChrX:153760916
GRCh38:
ChrX:154532701
G6PDC385R, C415RG6PD TOMAHPathogenic
(Nov 9, 2017)
criteria provided, single submitter
21.
GRCh37:
ChrX:153760926
GRCh38:
ChrX:154532711
G6PDF381L, F411LAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(May 4, 2022)
criteria provided, single submitter
22.
GRCh37:
ChrX:153760967
GRCh38:
ChrX:154532752
G6PDE398K, E368KAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(Sep 15, 2021)
criteria provided, single submitter
23.
GRCh37:
ChrX:153760980
GRCh38:
ChrX:154532765
G6PDN363K, N393KAnemia, nonspherocytic hemolytic, due to G6PD deficiency, G6PD LOMA LINDAPathogenic; other
(May 24, 2017)
no assertion criteria provided
24.
GRCh37:
ChrX:153760981
GRCh38:
ChrX:154532766
G6PDN363I, N393IInborn genetic diseasesPathogenic
(Aug 3, 2016)
criteria provided, single submitter
25.
GRCh37:
ChrX:153760987
GRCh38:
ChrX:154532772
G6PDA361V, A391VG6PD SERRES, Anemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic; other
(May 24, 2017)
no assertion criteria provided
26.
GRCh37:
ChrX:153761205
GRCh38:
ChrX:154532990
G6PDA335T, A365TInborn genetic diseases, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, Malaria, susceptibility to,
not specified, not provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Pathogenic
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
ChrX:153761244
GRCh38:
ChrX:154533029
G6PDY322H, Y352HG6PD REHOVOT, Anemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic; other
(Jul 28, 2016)
no assertion criteria provided
28.
GRCh37:
ChrX:153761259
GRCh38:
ChrX:154533044
G6PDE317K, E347Knot provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, G6PD deficiency
Pathogenic
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
ChrX:153761337
GRCh38:
ChrX:154533122
G6PDV291M, V321MG6PD deficient hemolytic anemia, Inborn genetic diseases, Anemia, nonspherocytic hemolytic, due to G6PD deficiency,
Malaria, susceptibility to, not provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency,
G6PD deficiency
Pathogenic/Likely pathogenic
(May 31, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
ChrX:153761801
GRCh38:
ChrX:154533586
G6PDR285H, R315HAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(May 24, 2022)
criteria provided, single submitter
31.
GRCh37:
ChrX:153761807
GRCh38:
ChrX:154533592
G6PDD283V, D313Vnot providedPathogenic
(Apr 21, 2017)
criteria provided, single submitter
32.
GRCh37:
ChrX:153762317
GRCh38:
ChrX:154534102
G6PDL235F, L265FAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(May 4, 2022)
criteria provided, single submitter
33.
GRCh37:
ChrX:153762340
GRCh38:
ChrX:154534125
G6PDR227L, R257LG6PD deficiencyPathogenic
(Jun 1, 1988)
no assertion criteria provided
34.
GRCh37:
ChrX:153762604
GRCh38:
ChrX:154534389
G6PDR198H, R228HAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(May 28, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrX:153762604
GRCh38:
ChrX:154534389
G6PDR198P, R228PAnemia, nonspherocytic hemolytic, due to G6PD deficiency, G6PD SANTIAGOPathogenic; other
(May 24, 2017)
no assertion criteria provided
36.
GRCh37:
ChrX:153762605
GRCh38:
ChrX:154534390
G6PDR198C, R228CAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
ChrX:153762634
GRCh38:
ChrX:154534419
G6PDS188F, S218FMalaria, susceptibility to, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, not provided,
Hemolytic anemia, G6PD deficient (favism), Inborn genetic diseases, G6PD deficient hemolytic anemia,
Anemia, nonspherocytic hemolytic, due to G6PD deficiency, G6PD deficiency, Decreased glucose-6-phosphate dehydrogenase level in blood
Pathogenic/Likely pathogenic
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
ChrX:153762680
GRCh38:
ChrX:154534465
G6PDF173L, F203LAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(Nov 14, 2021)
criteria provided, single submitter
39.
GRCh37:
ChrX:153762704
GRCh38:
ChrX:154534489
G6PDN165D, N195Dnot specified, not provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Pathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
ChrX:153762710
GRCh38:
ChrX:154534495
G6PDG163S, G193SAnemia, nonspherocytic hemolytic, due to G6PD deficiency, Malaria, susceptibility to, not specified,
not provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Pathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
ChrX:153763462
GRCh38:
ChrX:154535247
G6PDR136C, R166CAnemia, nonspherocytic hemolytic, due to G6PD deficiency, not providedPathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
ChrX:153763464
GRCh38:
ChrX:154535249
G6PDN135T, N165Tnot provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(Aug 13, 2021)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
ChrX:153763476
GRCh38:
ChrX:154535261
G6PDG131V, G161Vnot provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
ChrX:153763485
GRCh38:
ChrX:154535270
G6PDL128R, L158RAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(Aug 27, 2021)
criteria provided, single submitter
45.
GRCh37:
ChrX:153763485
GRCh38:
ChrX:154535270
G6PDL128P, L158Pnot provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, G6PD deficiency
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
ChrX:153763545
GRCh38:
ChrX:154535330
G6PDV108E, V138EAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(May 4, 2022)
criteria provided, single submitter
47.
GRCh37:
ChrX:153764210
GRCh38:
ChrX:154535995
G6PDY100C, Y70Cnot provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic/Likely pathogenic
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
ChrX:153764371
GRCh38:
ChrX:154536156
G6PDI48T, I78Tnot provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, G6PD deficiency
Pathogenic
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
ChrX:153764383
GRCh38:
ChrX:154536168
G6PDA44G, A74Gnot provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
50.
G6PDL61del, L91delAnemia, nonspherocytic hemolytic, due to G6PD deficiencyPathogenic
(Aug 30, 2021)
criteria provided, single submitter
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