Total 191 pathogenic variants reported for Glucose-6-phosphate transport defect 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) SNV
Germline		 Chr11:119025299 Pathogenic Glucose-6-phosphate transport defect
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA284849 rs_80356490

12 SubmittersRCV000007330RCV000059116
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter) SNV
Germline		 Chr11:119025251 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA253999 rs_121908975

5 SubmittersRCV000007331
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) SNV
Germline		 Chr11:119028223 Pathogenic Glucose-6-phosphate transport defect
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219309 rs_80356489

7 SubmittersRCV000007332RCV000059128
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) SNV
Germline		 Chr11:119028288 Pathogenic Phosphate transport defect
Glucose-6-phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118561 rs_121908976

4 SubmittersRCV000007339RCV000169480
NM_001164277.2(SLC37A4):c.871+1G>T SNV
Germline		 Chr11:119026602 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382899877 rs_1943574435

2 SubmittersRCV000007343
NM_001164277.2(SLC37A4):c.148+1G>A SNV
Germline		 Chr11:119029221 Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect
Phosphate transport defect
Congenital disorder of glycosylation, type IIw
Phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382907837 rs_1943672400

5 SubmittersRCV000007344RCV002496291RCV002223174
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) SNV
Germline		 Chr11:119029287 Pathogenic Glucose-6-phosphate transport defect
Condition: not provided
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
Phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219358 rs_121908978

9 SubmittersRCV000007345RCV000059144RCV002482839
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) SNV
Germline		 Chr11:119024957 Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
Phosphate transport defect
Congenital disorder of glycosylation, type IIw		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254006 rs_121908979

7 SubmittersRCV000007346RCV001196429RCV002496292RCV003989281
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) SNV
Germline		 Chr11:119025298 Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect
Condition: not provided
Phosphate transport defect
Congenital disorder of glycosylation, type IIw
Glucose-6-phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219275 rs_121908980

6 SubmittersRCV000007347RCV000059117RCV002482840
NM_001164277.2(SLC37A4):c.625G>A (p.Gly209Ser) SNV
Germline		 Chr11:119027628 Pathogenic Glucose-6-phosphate transport defect No Assertion Criteria Provided
 CA382901791 rs_1272300904

1 SubmittersRCV000007348
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) SNV
Germline		 Chr11:119025215 Conflicting classifications of pathogenicity Condition: not provided
Glucose-6-phosphate transport defect		 Criteria Provided
Conflicting Classifications
 CA219278 rs_80356492

6 SubmittersRCV000059118RCV000288403
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg) SNV
Germline		 Chr11:119028412 Likely pathogenic Condition: not provided
Glucose-6-phosphate transport defect		 Criteria Provided
Single Submitter
 CA219297 rs_193302884

2 SubmittersRCV000059124RCV003617796
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg) SNV
Germline		 Chr11:119028373 Pathogenic/Likely pathogenic Condition: not provided
Glucose-6-phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219300 rs_193302885

3 SubmittersRCV000059125RCV001854231
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val) SNV
Germline		 Chr11:119027811 Pathogenic Condition: not provided
Glucose-6-phosphate transport defect		 Criteria Provided
Single Submitter
 CA219316 rs_193302879

2 SubmittersRCV000059130RCV001390447
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) SNV
Germline		 Chr11:119027808 Pathogenic Condition: not provided
Glucose-6-phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219319 rs_193302892

6 SubmittersRCV000059131RCV001204831
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) SNV
Germline		 Chr11:119027806 Pathogenic/Likely pathogenic Condition: not provided
Glucose-6-phosphate transport defect
Phosphate transport defect
Congenital disorder of glycosylation, type IIw
Glucose-6-phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219322 rs_193302883

6 SubmittersRCV000059132RCV000794844RCV002483116
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) SNV
Germline		 Chr11:119027796 Pathogenic/Likely pathogenic Condition: not provided
Glucose-6-phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219325 rs_193302890

4 SubmittersRCV000059133RCV001854232
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg) SNV
Germline		 Chr11:119027706 Pathogenic Condition: not provided
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219331 rs_193302893

4 SubmittersRCV000059135RCV001824595RCV005357433
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) SNV
Germline		 Chr11:119027681 Pathogenic Glucose-6-phosphate transport defect
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219334 rs_193302888

5 SubmittersRCV000169286RCV000059136
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) SNV
Germline		 Chr11:119029311 Pathogenic/Likely pathogenic Condition: not provided
Glucose-6-phosphate transport defect
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219337 rs_193302881

9 SubmittersRCV000059137RCV000699431RCV002504976
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His) SNV
Germline		 Chr11:119029300 Likely pathogenic Condition: not provided
Glucose-6-phosphate transport defect		 No Assertion Criteria Provided
 CA219343 rs_193302887

2 SubmittersRCV000059139RCV000169003
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg) SNV
Germline		 Chr11:119026985 Likely pathogenic Condition: not provided
Glucose-6-phosphate transport defect		 Criteria Provided
Single Submitter
 CA219346 rs_193302878

2 SubmittersRCV000059140RCV003474641
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) SNV
Germline		 Chr11:119029289 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type I
6 conditions
Glucose-6-phosphate transport defect		 Criteria Provided
Conflicting Classifications
 CA219349 rs_193302889

6 SubmittersRCV000059141RCV000357831RCV000414827RCV000675174
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) SNV
Germline		 Chr11:119029288 Pathogenic Condition: not provided
Glucose-6-phosphate transport defect
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219352 rs_193302882

6 SubmittersRCV000059142RCV000634548RCV002477207
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) SNV
Germline		 Chr11:119026053 Pathogenic/Likely pathogenic Condition: not provided
Glucose-6-phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219361 rs_193302880

9 SubmittersRCV000059145RCV000673809
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) SNV
Germline		 Chr11:119026052 Pathogenic/Likely pathogenic Condition: not provided
Glucose-6-phosphate transport defect
Glycogen storage disease type 1 due to SLC37A4 mutation
Phosphate transport defect
Congenital disorder of glycosylation, type IIw
Glucose-6-phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219364 rs_193302903

7 SubmittersRCV000059146RCV001388583RCV001813754RCV002498349
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro) SNV
Germline		 Chr11:119026049 Likely pathogenic Condition: not provided
Glucose-6-phosphate transport defect
Phosphate transport defect
Glucose-6-phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219367 rs_193302891

3 SubmittersRCV000059147RCV003474642RCV005621868
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) SNV
Germline		 Chr11:119026979 Pathogenic Glucose-6-phosphate transport defect
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA273924 rs_781784543

8 SubmittersRCV000169082RCV000300702
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) SNV
Germline		 Chr11:119027069 Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA274419 rs_551439289

4 SubmittersRCV000169570
NM_001164277.2(SLC37A4):c.381+1G>A SNV
Germline		 Chr11:119028193 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA274287 rs_786204637

2 SubmittersRCV000169418
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val) SNV
Germline		 Chr11:119029369 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA274441 rs_786204740

2 SubmittersRCV000169589
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr) SNV
Germline		 Chr11:119025247 Conflicting classifications of pathogenicity not specified
Glucose-6-phosphate transport defect
SLC37A4-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA203733 rs_547488738

6 SubmittersRCV000180561RCV000559346RCV003937641RCV002408783
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr) SNV
Germline		 Chr11:119025032 Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect
Condition: not provided
Inborn genetic diseases
SLC37A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA321467 rs_199764888

5 SubmittersRCV000698406RCV000730228RCV002327041RCV003955197
NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val) SNV
Germline		 Chr11:119025323 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Glucose-6-phosphate transport defect
SLC37A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA323953 rs_201967384

6 SubmittersRCV000199412RCV002381676RCV001082259RCV003947639
NM_001164277.2(SLC37A4):c.986-14T>G SNV
Germline		 Chr11:119025343 Conflicting classifications of pathogenicity Condition: not provided
Glucose-6-phosphate transport defect		 Criteria Provided
Conflicting Classifications
 CA323471 rs_863224211

3 SubmittersRCV000198933RCV000668559
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) SNV
Germline		 Chr11:119025983 Conflicting classifications of pathogenicity Condition: not provided
Glucose-6-phosphate transport defect
SLC37A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA321255 rs_202209699

5 SubmittersRCV000196846RCV001084427RCV003937743
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) SNV
Germline		 Chr11:119027757 Conflicting classifications of pathogenicity Condition: not provided
Glucose-6-phosphate transport defect
Phosphate transport defect
Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
Phosphate transport defect
SLC37A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA323754 rs_186476316

6 SubmittersRCV000199219RCV001027800RCV001084902RCV003224223RCV003955196
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) SNV
Germline		 Chr11:119027787 Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect
Glycogen storage disease, type I
Condition: not provided
Phosphate transport defect
Glucose-6-phosphate transport defect
not specified		 Criteria Provided
Conflicting Classifications
 CA321772 rs_201036248

8 SubmittersRCV001086520RCV001102581RCV000658627RCV002054342RCV003330569
NM_001164277.2(SLC37A4):c.786-7A>G SNV
Germline		 Chr11:119026695 Conflicting classifications of pathogenicity not specified
Condition: not provided
Glucose-6-phosphate transport defect		 Criteria Provided
Conflicting Classifications
 CA6311728 rs_781887799

4 SubmittersRCV000275403RCV000725786RCV001273739
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=) SNV
Germline		 Chr11:119024960 Conflicting classifications of pathogenicity Condition: not provided
Glucose-6-phosphate transport defect
Inborn genetic diseases
SLC37A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA6311588 rs_200703321

6 SubmittersRCV000278035RCV001087385RCV003165758RCV004752830
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=) SNV
Germline		 Chr11:119027762 Conflicting classifications of pathogenicity Glycogen storage disease, type I
Glucose-6-phosphate transport defect
not specified
Condition: not provided
Glucose-6-phosphate transport defect
Phosphate transport defect
Congenital disorder of glycosylation, type IIw
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6311827 rs_369399624

6 SubmittersRCV000392366RCV000936549RCV001280604RCV004597775RCV003224255RCV004021499
NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=) SNV
Germline		 Chr11:119027789 Conflicting classifications of pathogenicity Glycogen storage disease, type I
Glucose-6-phosphate transport defect		 Criteria Provided
Conflicting Classifications
 CA6311832 rs_776272750

2 SubmittersRCV000278475RCV001410122
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro) SNV
Germline		 Chr11:119026635 Likely pathogenic Glucose-6-phosphate transport defect No Assertion Criteria Provided
 CA382900127 rs_1555190969

1 SubmittersRCV000505570
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser) SNV
Germline		 Chr11:119029290 Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6311917 rs_782308530

3 SubmittersRCV000548549RCV003139758
NM_001164277.2(SLC37A4):c.872C>T (p.Ala291Val) SNV
Germline		 Chr11:119026079 Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect
Condition: not provided
Inborn genetic diseases
SLC37A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA6311694 rs_200147602

4 SubmittersRCV000524561RCV001547830RCV002377036RCV003935410
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter) SNV
Germline		 Chr11:119029260 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA382908291 rs_1444468055

2 SubmittersRCV000578424
NM_001164277.2(SLC37A4):c.872-2A>C SNV
Germline		 Chr11:119026082 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382898225 rs_920196110

2 SubmittersRCV000666410
NM_001164277.2(SLC37A4):c.148+2T>C SNV
Germline		 Chr11:119029220 Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA382907826 rs_1449998297

3 SubmittersRCV000664487
NM_001164277.2(SLC37A4):c.1125-1G>A SNV
Unknown		 Chr11:119025077 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382894910 rs_782202675

2 SubmittersRCV000668312
NM_001164277.2(SLC37A4):c.1124+1G>C SNV
Germline		 Chr11:119025190 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA382894998 rs_782630676

2 SubmittersRCV000707348
NM_001164277.2(SLC37A4):c.930C>T (p.Gly310=) SNV
Germline		 Chr11:119026021 Conflicting classifications of pathogenicity Condition: not provided
Glucose-6-phosphate transport defect		 Criteria Provided
Conflicting Classifications
 CA6311689 rs_148971334

3 SubmittersRCV000728251RCV001080222
NM_001164277.2(SLC37A4):c.381+2T>G SNV
Germline		 Chr11:119028192 Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6311854 rs_782645078

4 SubmittersRCV000781850RCV001268012
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala) SNV
Germline		 Chr11:119024914 Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect
not specified
Condition: not provided
Inborn genetic diseases
Glycogen storage disease type 1 due to SLC37A4 mutation
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw		 Criteria Provided
Conflicting Classifications
 CA6311575 rs_149974794

7 SubmittersRCV000807579RCV002271588RCV002281135RCV005492885RCV005359560RCV002507401
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter) SNV
Germline		 Chr11:119028405 Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA382906447 rs_374848317

2 SubmittersRCV000810201
NM_001164277.2(SLC37A4):c.785+2T>G SNV
Germline		 Chr11:119026935 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382900768 rs_1592111559

1 SubmittersRCV000811087
NM_001164277.2(SLC37A4):c.381+1G>T SNV
Germline		 Chr11:119028193 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA382904410 rs_786204637

3 SubmittersRCV000812333
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile) SNV
Germline		 Chr11:119026940 Conflicting classifications of pathogenicity Condition: not provided
Glucose-6-phosphate transport defect
SLC37A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA6311743 rs_561701030

4 SubmittersRCV000966318RCV001084431RCV003972853
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter) SNV
Germline		 Chr11:119027046 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382901482 rs_996440530

2 SubmittersRCV001043799
NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter) SNV
Germline		 Chr11:119027759 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382902877 rs_1233639372

1 SubmittersRCV001068592
NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=) SNV
Germline		 Chr11:119028236 Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect
Glycogen storage disease, type I		 Criteria Provided
Conflicting Classifications
 CA477126636 rs_1376674013

2 SubmittersRCV001441012RCV001102584
NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=) SNV
Germline		 Chr11:119029325 Conflicting classifications of pathogenicity Glycogen storage disease, type I
Glucose-6-phosphate transport defect		 Criteria Provided
Conflicting Classifications
 CA477130143 rs_1555191880

2 SubmittersRCV001104510RCV001426217
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter) SNV
Germline		 Chr11:119028358 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA382906005 rs_1555191604

2 SubmittersRCV001174784
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter) SNV
Germline		 Chr11:119028341 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382905789 rs_781857990

1 SubmittersRCV001174813
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter) SNV
Germline		 Chr11:119025021 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA229595808 rs_902775927

4 SubmittersRCV001192958
NM_001164277.2(SLC37A4):c.872C>G (p.Ala291Gly) SNV
Germline		 Chr11:119026079 Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect
Condition: not provided
Inborn genetic diseases
Congenital disorder of glycosylation, type IIw
Phosphate transport defect
Glucose-6-phosphate transport defect
SLC37A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA6311695 rs_200147602

7 SubmittersRCV001244305RCV003117861RCV003166529RCV005050310RCV004753253
NM_001164277.2(SLC37A4):c.786-1G>A SNV
Germline		 Chr11:119026689 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382900668 rs_1943578039

1 SubmittersRCV001230044
NM_001164277.2(SLC37A4):c.148+1G>T SNV
Germline		 Chr11:119029221 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382907834 rs_1943672400

1 SubmittersRCV001260430
NM_001164277.2(SLC37A4):c.985+1G>A SNV
Germline		 Chr11:119025966 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382897080 rs_1943553565

2 SubmittersRCV001283783
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=) SNV
Germline		 Chr11:119028311 Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect
Phosphate transport defect
Congenital disorder of glycosylation, type IIw
Glucose-6-phosphate transport defect		 Criteria Provided
Conflicting Classifications
 CA6311877 rs_782292086

3 SubmittersRCV001319846RCV002486269
NM_001164277.2(SLC37A4):c.786-2A>G SNV
Germline		 Chr11:119026690 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382900687 rs_2134633880

1 SubmittersRCV001379469
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu) SNV
Germline		 Chr11:119028327 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382905655 rs_2134640168

1 SubmittersRCV001378593
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter) SNV
Germline		 Chr11:119025022 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382894352 rs_2134626765

1 SubmittersRCV001390356
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter) SNV
Germline		 Chr11:119027760 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382902906 rs_1943618079

1 SubmittersRCV001390723
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) SNV
Germline		 Chr11:119024933 Pathogenic/Likely pathogenic Congenital disorder of glycosylation
Congenital disorder of glycosylation, type IIw
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
Phosphate transport defect
Glucose-6-phosphate transport defect		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382893387 rs_2134626266

5 SubmittersRCV001543403RCV001647389RCV002506653RCV005614665
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter) SNV
Germline		 Chr11:119027040 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382901457 rs_2134635160

1 SubmittersRCV001806737
NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter) SNV
Germline		 Chr11:119028235 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA6311861 rs_782313064

1 SubmittersRCV001876688
NM_001164277.2(SLC37A4):c.1124+1G>T SNV
Germline		 Chr11:119025190 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA6311628 rs_782630676

2 SubmittersRCV002048277
NM_001164277.2(SLC37A4):c.148+2T>A SNV
Germline		 Chr11:119029220 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382907830 rs_1449998297

1 SubmittersRCV002282846
NM_001164277.2(SLC37A4):c.788G>A (p.Ser263Asn) SNV
Germline		 Chr11:119026685 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382900642 rs_2497021163

1 SubmittersRCV002287549
NM_001164277.2(SLC37A4):c.871+1G>A SNV
Germline		 Chr11:119026602 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA382899879 rs_1943574435

2 SubmittersRCV002835308
NM_001164277.2(SLC37A4):c.786-2A>C SNV
Germline		 Chr11:119026690 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382900690 rs_2134633880

1 SubmittersRCV002881115
NM_001164277.2(SLC37A4):c.872-1G>A SNV
Germline		 Chr11:119026081 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382898209 rs_2497018180

2 SubmittersRCV003040942
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg) SNV
Germline		 Chr11:119028232 Conflicting classifications of pathogenicity not specified
Glucose-6-phosphate transport defect		 Criteria Provided
Conflicting Classifications
 CA382904676 rs_2497032088

2 SubmittersRCV003230955RCV003475550
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu) SNV
Germline		 Chr11:119028231 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382904674 rs_2497032074

1 SubmittersRCV003444046
NM_001164277.2(SLC37A4):c.986-1G>C SNV
Unknown		 Chr11:119025330 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382896471 rs_1451674068

1 SubmittersRCV003472925
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu) SNV
Unknown		 Chr11:119028210 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382904514 rs_1943632639

1 SubmittersRCV003472926
NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter) SNV
Unknown		 Chr11:119028255 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382904866 rs_1479515679

1 SubmittersRCV003472927
NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter) SNV
Germline		 Chr11:119026678 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA382900560 rs_2134633831

2 SubmittersRCV003472935
NM_001164277.2(SLC37A4):c.1124+1G>A SNV
Unknown		 Chr11:119025190 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382895002 rs_782630676

1 SubmittersRCV003472936
NM_001164277.2(SLC37A4):c.382-1G>T SNV
Germline		 Chr11:119027873 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA382904285 rs_2497029858

2 SubmittersRCV003472937
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg) SNV
Germline		 Chr11:119029222 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Multiple Submitters
No Conflicts
 CA382907843 rs_193302894

2 SubmittersRCV003472945
NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter) SNV
Germline		 Chr11:119025325 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382896443 rs_782282206

1 SubmittersRCV003507694
NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter) SNV
Germline		 Chr11:119027041 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382901461 rs_1555191101

1 SubmittersRCV003507732
NM_001164277.2(SLC37A4):c.410G>A (p.Trp137Ter) SNV
Germline		 Chr11:119027844 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382903876 rs_2497029597

1 SubmittersRCV003507820
NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter) SNV
Germline		 Chr11:119028342 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382905808 rs_1943638687

1 SubmittersRCV003618186
NM_001164277.2(SLC37A4):c.986-1G>A SNV
Germline		 Chr11:119025330 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382896472 rs_1451674068

1 SubmittersRCV003618240
NM_001164277.2(SLC37A4):c.149-2A>G SNV
Germline		 Chr11:119028428 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382906662 rs_1441197277

1 SubmittersRCV003618302
NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter) SNV
Germline		 Chr11:119027841 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382903841 rs_2497029561

1 SubmittersRCV003618467
NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter) SNV
Germline		 Chr11:119024988 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382893996 rs_2497010017

1 SubmittersRCV003618735
NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter) SNV
Germline		 Chr11:119028395 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382906340 rs_2497033470

1 SubmittersRCV003617461
NM_001164277.2(SLC37A4):c.382-2A>G SNV
Germline		 Chr11:119027874 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 CA382904322 rs_2497029871

1 SubmittersRCV003617465
NM_001164277.2(SLC37A4):c.726C>A (p.Cys242Ter) SNV
Unknown		 Chr11:119026995 Likely pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter
 rs_2497023441

1 SubmittersRCV004573643
NM_001164277.2(SLC37A4):c.3G>C (p.Met1Ile) SNV
Germline		 Chr11:119029367 Pathogenic Glucose-6-phosphate transport defect Criteria Provided
Single Submitter

1 SubmittersRCV005201527
NM_001164277.2(SLC37A4):c.321G>A (p.Trp107Ter) SNV
Germline		 Chr11:119028254 Pathogenic Glucose-6-phosphate transport defect No Assertion Criteria Provided

1 SubmittersRCV005612838
NM_001164277.2(SLC37A4):c.381+1G>C SNV
Germline		 Chr11:119028193 Pathogenic Glucose-6-phosphate transport defect No Assertion Criteria Provided

1 SubmittersRCV005611740
NM_001164277.2(SLC37A4):c.626+1G>T SNV
Germline		 Chr11:119027627 Likely pathogenic Glucose-6-phosphate transport defect No Assertion Criteria Provided

1 SubmittersRCV005612845