Total 64 pathogenic variants reported for Fanconi-Bickel syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) SNV
Germline		 Chr3:170999142 Pathogenic Fanconi-Bickel syndrome
Condition: not provided
Congenital long QT syndrome
Fanconi-Bickel syndrome
Type 2 diabetes mellitus		 Criteria Provided
Multiple Submitters
No Conflicts
 CA019983 rs_121909742

7 SubmittersRCV000017472RCV004719651RCV004732549RCV002490379
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) SNV
Germline		 Chr3:171005347 Pathogenic Fanconi-Bickel syndrome
Fanconi-Bickel syndrome
Type 2 diabetes mellitus		 Criteria Provided
Multiple Submitters
No Conflicts
 CA020034 rs_121909743

7 SubmittersRCV000017473RCV002496390
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) SNV
Germline		 Chr3:170998317 Pathogenic/Likely pathogenic Fanconi-Bickel syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA019992 rs_121909744

4 SubmittersRCV000017475
NM_000340.2(SLC2A2):c.1259G>A (p.Trp420Ter) SNV
Germline		 Chr3:170998308 Pathogenic Fanconi-Bickel syndrome No Assertion Criteria Provided
 CA019998 rs_121909745

1 SubmittersRCV000017476
NM_000340.2(SLC2A2):c.952G>A (p.Gly318Arg) SNV
Germline		 Chr3:171005296 Pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA2702548 rs_780067980

2 SubmittersRCV000017479
NM_000340.2(SLC2A2):c.157C>T (p.Arg53Ter) SNV
Germline		 Chr3:171014683 Pathogenic Fanconi-Bickel syndrome
SLC2A2-related disorder		 Criteria Provided
Single Submitter
 CA355493790 rs_771477447

3 SubmittersRCV000017480RCV003974835
NM_000340.2(SLC2A2):c.1268T>A (p.Val423Glu) SNV
Germline		 Chr3:170998299 Pathogenic Fanconi-Bickel syndrome No Assertion Criteria Provided
 CA020003 rs_28928874

1 SubmittersRCV000017481
NM_000340.2(SLC2A2):c.109-2A>G SNV
Germline		 Chr3:171014733 Pathogenic Fanconi-Bickel syndrome No Assertion Criteria Provided
 CA355494055 rs_1576838294

1 SubmittersRCV000017482
NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter) SNV
Germline		 Chr3:171005389 Pathogenic Fanconi-Bickel syndrome No Assertion Criteria Provided
 CA020030 rs_121909746

1 SubmittersRCV000017483
NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro) SNV
Germline		 Chr3:170999069 Pathogenic Fanconi-Bickel syndrome No Assertion Criteria Provided
 CA019988 rs_121909747

1 SubmittersRCV000017484
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) SNV
Germline/somatic		 Chr3:170998041 Conflicting classifications of pathogenicity not specified
Condition: not provided
Fanconi-Bickel syndrome
Type 2 diabetes mellitus		 Criteria Provided
Conflicting Classifications
 CA020007 rs_5398

9 SubmittersRCV000118386RCV000675652RCV000330469RCV002226675
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) SNV
Germline		 Chr3:170999148 Conflicting classifications of pathogenicity Condition: not provided
Fanconi-Bickel syndrome
SLC2A2-related disorder		 Criteria Provided
Conflicting Classifications
 CA019978 rs_76362149

5 SubmittersRCV000180494RCV001147820RCV004751346
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) SNV
Germline		 Chr3:171014593 Conflicting classifications of pathogenicity Fanconi-Bickel syndrome
not specified
Type 2 diabetes mellitus
Fanconi-Bickel syndrome		 Criteria Provided
Conflicting Classifications
 CA2702732 rs_150851401

4 SubmittersRCV000274009RCV000253307RCV003227733
NM_000340.2(SLC2A2):c.612+10C>A SNV
Germline		 Chr3:171007138 Conflicting classifications of pathogenicity Fanconi-Bickel syndrome Criteria Provided
Conflicting Classifications
 CA2702630 rs_762632420

2 SubmittersRCV000405753
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) SNV
Germline		 Chr3:170998046 Conflicting classifications of pathogenicity Fanconi-Bickel syndrome
Condition: not provided
Fanconi-Bickel syndrome
Type 2 diabetes mellitus
SLC2A2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2702399 rs_5397

6 SubmittersRCV000387347RCV000415930RCV000764476RCV003922507
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) SNV
Germline		 Chr3:171014682 Conflicting classifications of pathogenicity Condition: not provided
Type 2 diabetes mellitus
Fanconi-Bickel syndrome
Fanconi-Bickel syndrome
Type 2 diabetes mellitus		 Criteria Provided
Conflicting Classifications
 CA2702747 rs_145210664

6 SubmittersRCV000490046RCV000764477RCV001147021RCV002467840
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter) SNV
Germline		 Chr3:171006093 Pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA355489740 rs_1114167428

2 SubmittersRCV000490904
NM_000340.2(SLC2A2):c.963+1G>A SNV
Germline		 Chr3:171005284 Pathogenic Type 2 diabetes mellitus
Fanconi-Bickel syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2702544 rs_371977235

2 SubmittersRCV000511807RCV001387331
NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser) SNV
Germline		 Chr3:170998321 Likely pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA355485922 rs_1553785033

1 SubmittersRCV000513671
NM_000340.2(SLC2A2):c.775+1G>A SNV
Germline		 Chr3:171005942 Pathogenic/Likely pathogenic Condition: not provided
Fanconi-Bickel syndrome
Type 2 diabetes mellitus
Fanconi-Bickel syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2702593 rs_756874949

5 SubmittersRCV000594596RCV001060330RCV002483654
NM_000340.2(SLC2A2):c.852G>A (p.Ser284=) SNV
Germline		 Chr3:171005396 Conflicting classifications of pathogenicity not specified
Fanconi-Bickel syndrome
Type 2 diabetes mellitus
Fanconi-Bickel syndrome		 Criteria Provided
Conflicting Classifications
 CA87709424 rs_371899639

3 SubmittersRCV000606965RCV001478172RCV005034192
NM_000340.2(SLC2A2):c.613-1G>C SNV
Unknown		 Chr3:171006106 Pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA355489802 rs_1553786361

1 SubmittersRCV000626238
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met) SNV
Germline		 Chr3:171007167 Conflicting classifications of pathogenicity Fanconi-Bickel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2702635 rs_149460434

3 SubmittersRCV000650225RCV001355604
NM_000340.2(SLC2A2):c.1164G>A (p.Val388=) SNV
Germline		 Chr3:170999071 Conflicting classifications of pathogenicity Fanconi-Bickel syndrome
not specified
SLC2A2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2702479 rs_140794946

3 SubmittersRCV000913854RCV001818845RCV003977994
NM_000340.2(SLC2A2):c.497-2A>G SNV
Germline		 Chr3:171007265 Pathogenic/Likely pathogenic Fanconi-Bickel syndrome
Condition: not provided
Type 2 diabetes mellitus
Fanconi-Bickel syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355490798 rs_1318756243

3 SubmittersRCV001054596RCV002305564RCV005029624
NM_000340.2(SLC2A2):c.*83A>T SNV
Germline		 Chr3:170997820 Conflicting classifications of pathogenicity Fanconi-Bickel syndrome Criteria Provided
Conflicting Classifications
 CA902467329 rs_993283861

2 SubmittersRCV001146912
NM_000340.2(SLC2A2):c.372-4T>C SNV
Germline		 Chr3:171010086 Conflicting classifications of pathogenicity Fanconi-Bickel syndrome Criteria Provided
Conflicting Classifications
 CA87712909 rs_769607196

2 SubmittersRCV001145063
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter) SNV
Germline		 Chr3:170998208 Pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA355485675 rs_1715182989

1 SubmittersRCV001350487
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu) SNV
Germline		 Chr3:171007171 Likely pathogenic Fanconi-Bickel syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA355490404 rs_121909741

2 SubmittersRCV002266019
NM_000340.2(SLC2A2):c.2T>G (p.Met1Arg) SNV
Germline		 Chr3:171026669 Pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA355481286 rs_1716716102

1 SubmittersRCV001843322
NM_000340.2(SLC2A2):c.613-7T>G SNV
Germline		 Chr3:171006112 Likely pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA2573052114 rs_2108244550

1 SubmittersRCV001843324
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg) SNV
Germline		 Chr3:171009985 Conflicting classifications of pathogenicity Fanconi-Bickel syndrome Criteria Provided
Conflicting Classifications
 CA2702692 rs_750836049

2 SubmittersRCV001843686
NM_000340.2(SLC2A2):c.1170+1G>T SNV
Germline		 Chr3:170999064 Pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA355486202 rs_1294679246

1 SubmittersRCV001993134
NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter) SNV
Germline		 Chr3:171006036 Pathogenic Type 2 diabetes mellitus
Fanconi-Bickel syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2702603 rs_773581866

3 SubmittersRCV002246720RCV003094039
NM_000340.2(SLC2A2):c.351G>A (p.Trp117Ter) SNV
Germline		 Chr3:171014489 Pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA355492561 rs_753980727

1 SubmittersRCV002250958
NM_000340.2(SLC2A2):c.59G>A (p.Gly20Asp) SNV
Germline		 Chr3:171018580 Likely pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA2702775 rs_761992056

1 SubmittersRCV003324353
NM_000340.2(SLC2A2):c.496+2T>A SNV
Germline		 Chr3:171009956 Likely pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA355491527 rs_985090030

1 SubmittersRCV003338162
NM_000340.2(SLC2A2):c.1392T>A (p.Tyr464Ter) SNV
Germline		 Chr3:170998086 Pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter
 CA355485023 rs_1319329059

1 SubmittersRCV003631882
NM_000340.2(SLC2A2):c.474A>C (p.Arg158Ser) SNV
Germline		 Chr3:171009980 Likely pathogenic Fanconi-Bickel syndrome
Type 2 diabetes mellitus
Fanconi-Bickel syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355491582 rs_2473906384

2 SubmittersRCV003988984RCV005038642
NM_000340.2(SLC2A2):c.1020T>G (p.Tyr340Ter) SNV
Germline		 Chr3:171002624 Pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004775643
NM_000340.2(SLC2A2):c.613-1G>T SNV
Germline		 Chr3:171006106 Likely pathogenic Type 2 diabetes mellitus
Fanconi-Bickel syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024517
NM_000340.2(SLC2A2):c.250G>T (p.Glu84Ter) SNV
Germline		 Chr3:171014590 Likely pathogenic Type 2 diabetes mellitus
Fanconi-Bickel syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005035186
NM_000340.2(SLC2A2):c.2T>C (p.Met1Thr) SNV
Germline		 Chr3:171026669 Pathogenic Type 2 diabetes mellitus
Fanconi-Bickel syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024524
NM_000340.2(SLC2A2):c.1330T>C (p.Trp444Arg) SNV
Germline		 Chr3:170998237 Likely pathogenic Fanconi-Bickel syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005088525