Total 79 pathogenic variants reported for Wolcott-Rallison dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004836.7(EIF2AK3):c.1763G>A (p.Arg588Gln) SNV
Germline		 Chr2:88583430 Pathogenic Wolcott-Rallison dysplasia
Condition: not provided		 Criteria Provided
Single Submitter
 CA117825 rs_121908569

2 SubmittersRCV000006233RCV005089187
NM_004836.7(EIF2AK3):c.2985+1G>A SNV
Germline		 Chr2:88570873 Likely pathogenic Wolcott-Rallison dysplasia
Condition: not provided		 Criteria Provided
Single Submitter
 CA351491 rs_869025179

2 SubmittersRCV000006234RCV005089188
NM_004836.7(EIF2AK3):c.994G>T (p.Glu332Ter) SNV
Germline		 Chr2:88590826 Pathogenic Wolcott-Rallison dysplasia No Assertion Criteria Provided
 CA117826 rs_121908570

1 SubmittersRCV000006236
NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter) SNV
Germline		 Chr2:88588875 Pathogenic Wolcott-Rallison dysplasia Criteria Provided
Multiple Submitters
No Conflicts
 CA339733 rs_864621972

2 SubmittersRCV000204196
NM_004836.7(EIF2AK3):c.556T>C (p.Tyr186His) SNV
Germline		 Chr2:88595546 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Wolcott-Rallison dysplasia		 Criteria Provided
Conflicting Classifications
 CA1754900 rs_200991366

5 SubmittersRCV000349841RCV004975394RCV002502135
NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr) SNV
Germline		 Chr2:88575246 Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1754480 rs_201662849

4 SubmittersRCV000278324RCV001850815RCV003258775
NM_004836.7(EIF2AK3):c.1719T>C (p.Asn573=) SNV
Germline		 Chr2:88583474 Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia
Condition: not provided
EIF2AK3-related disorder		 Criteria Provided
Conflicting Classifications
 CA1754620 rs_137927384

3 SubmittersRCV000396368RCV001510917RCV003969971
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) SNV
Germline		 Chr2:88583496 Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia
Monogenic diabetes
Condition: not provided
not specified
EIF2AK3-related disorder
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA1754624 rs_55791823

12 SubmittersRCV000311224RCV000664080RCV000423642RCV001821019RCV003922466RCV002278521
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His) SNV
Germline		 Chr2:88593320 Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia
Connective tissue disorder
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1754859 rs_147458427

7 SubmittersRCV000375498RCV002278523RCV001861158RCV002523146
NM_004836.7(EIF2AK3):c.2073T>C (p.Asp691=) SNV
Germline		 Chr2:88575410 Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1754513 rs_747687191

2 SubmittersRCV000402472RCV002057722
NM_004836.7(EIF2AK3):c.1173T>C (p.Tyr391=) SNV
Germline		 Chr2:88588894 Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia
Condition: not provided
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA1754740 rs_146949180

3 SubmittersRCV000353582RCV000914532RCV002278522
NM_004836.5(EIF2AK3):c.-201A>G SNV
Germline		 Chr2:88627475 Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10616333 rs_144057685

4 SubmittersRCV000354079RCV000501083RCV003422325
NM_004836.7(EIF2AK3):c.1332G>A (p.Leu444=) SNV
Germline		 Chr2:88588079 Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1754714 rs_779731596

2 SubmittersRCV000276166RCV001850817
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) SNV
Germline		 Chr2:88583442 Conflicting classifications of pathogenicity Monogenic diabetes
Condition: not provided
Wolcott-Rallison dysplasia
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA1754614 rs_150314450

5 SubmittersRCV000445365RCV001339493RCV000764448RCV002279228
NM_004836.7(EIF2AK3):c.2758C>T (p.Gln920Ter) SNV
Germline		 Chr2:88574725 Pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 CA347589356 rs_1553407942

1 SubmittersRCV000503236
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr) SNV
Germline		 Chr2:88588803 Conflicting classifications of pathogenicity Condition: not provided
Wolcott-Rallison dysplasia
Connective tissue disorder
EIF2AK3-related disorder		 Criteria Provided
Conflicting Classifications
 CA1754733 rs_145427892

5 SubmittersRCV000901896RCV001140795RCV002279622RCV003922983
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter) SNV
Germline		 Chr2:88574776 Pathogenic Wolcott-Rallison dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347589607 rs_1178109063

4 SubmittersRCV000995765RCV002549918
NM_004836.7(EIF2AK3):c.1947G>A (p.Pro649=) SNV
Germline		 Chr2:88576643 Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1754546 rs_765544171

2 SubmittersRCV001140037RCV001412013
NM_004836.7(EIF2AK3):c.1504G>A (p.Asp502Asn) SNV
Germline		 Chr2:88585987 Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1754678 rs_141901506

4 SubmittersRCV001140793RCV001326864RCV004619522
NM_004836.7(EIF2AK3):c.786C>A (p.Gly262=) SNV
Germline		 Chr2:88591034 Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1754838 rs_375371096

2 SubmittersRCV001142645RCV003769681
NM_004836.7(EIF2AK3):c.1764-2A>G SNV
Unknown		 Chr2:88579642 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 CA347593934 rs_1674549393

1 SubmittersRCV001329323
NM_004836.7(EIF2AK3):c.641A>G (p.Tyr214Cys) SNV
Germline		 Chr2:88593398 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Multiple Submitters
No Conflicts
 CA347596553 rs_1327996297

3 SubmittersRCV001530189
NM_004836.7(EIF2AK3):c.1037A>G (p.Lys346Arg) SNV
Germline		 Chr2:88590571 Conflicting classifications of pathogenicity Condition: not provided
Wolcott-Rallison dysplasia
EIF2AK3-related disorder		 Criteria Provided
Conflicting Classifications
 CA1754778 rs_200315616

3 SubmittersRCV001924055RCV004720341RCV003948823
NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val) SNV
Germline		 Chr2:88627189 Conflicting classifications of pathogenicity Condition: not provided
Wolcott-Rallison dysplasia		 Criteria Provided
Conflicting Classifications
 CA1755014 rs_529920914

3 SubmittersRCV002049143RCV002493986
NM_004836.7(EIF2AK3):c.63G>A (p.Leu21=) SNV
Germline		 Chr2:88627212 Conflicting classifications of pathogenicity Condition: not provided
Wolcott-Rallison dysplasia		 Criteria Provided
Conflicting Classifications
 CA51963762 rs_984341375

3 SubmittersRCV001890000RCV002490094
NM_004836.7(EIF2AK3):c.35G>C (p.Arg12Pro) SNV
Germline		 Chr2:88627240 Conflicting classifications of pathogenicity Condition: not provided
EIF2AK3-related disorder
Inborn genetic diseases
Wolcott-Rallison dysplasia		 Criteria Provided
Conflicting Classifications
 CA1755021 rs_756618692

4 SubmittersRCV002104328RCV003933535RCV004046470RCV005232870
NM_004836.7(EIF2AK3):c.1897C>T (p.Arg633Trp) SNV
Germline		 Chr2:88576693 Conflicting classifications of pathogenicity Condition: not provided
Wolcott-Rallison dysplasia		 Criteria Provided
Conflicting Classifications
 CA1754556 rs_748318874

2 SubmittersRCV002664247RCV003479486
NM_004836.7(EIF2AK3):c.1762C>T (p.Arg588Ter) SNV
Germline		 Chr2:88583431 Pathogenic/Likely pathogenic Condition: not provided
Wolcott-Rallison dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1754613 rs_754973185

3 SubmittersRCV003327038RCV004572931
NM_004836.7(EIF2AK3):c.1002+1G>C SNV
Unknown		 Chr2:88590817 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 CA347595719 rs_1192258846

1 SubmittersRCV003467895
NM_004836.7(EIF2AK3):c.1002+2T>C SNV
Unknown		 Chr2:88590816 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 CA347595717 rs_2529171218

1 SubmittersRCV003467896
NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter) SNV
Germline		 Chr2:88576678 Pathogenic Condition: not provided
Wolcott-Rallison dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347593351 rs_200307027

3 SubmittersRCV003553950RCV003460018
NM_004836.7(EIF2AK3):c.672G>A (p.Trp224Ter) SNV
Unknown		 Chr2:88593367 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 CA347596486 rs_2529177807

1 SubmittersRCV003467897
NM_004836.7(EIF2AK3):c.2969A>G (p.Tyr990Cys) SNV
Unknown		 Chr2:88570890 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 CA347586959 rs_2529116929

1 SubmittersRCV003467900
NM_004836.7(EIF2AK3):c.2128G>T (p.Glu710Ter) SNV
Germline		 Chr2:88575355 Pathogenic/Likely pathogenic Wolcott-Rallison dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347592794 rs_1674430442

2 SubmittersRCV003460019RCV003679213
NM_004836.7(EIF2AK3):c.2890C>T (p.Gln964Ter) SNV
Unknown		 Chr2:88570969 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 CA347587140 rs_2529117164

1 SubmittersRCV003467901
NM_004836.7(EIF2AK3):c.1886+2T>C SNV
Unknown		 Chr2:88579516 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 CA347593650 rs_2529140086

1 SubmittersRCV003467902
NM_004836.7(EIF2AK3):c.3088-1G>C SNV
Unknown		 Chr2:88558980 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 CA347584469 rs_1553405795

1 SubmittersRCV003467903
NM_004836.7(EIF2AK3):c.1306+1G>A SNV
Germline		 Chr2:88588760 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Multiple Submitters
No Conflicts
 CA51495168 rs_750939022

3 SubmittersRCV003467904
NM_004836.7(EIF2AK3):c.1306+1G>C SNV
Germline		 Chr2:88588760 Likely pathogenic Condition: not provided
Wolcott-Rallison dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1754730 rs_750939022

2 SubmittersRCV003669426RCV003467905
NM_004836.7(EIF2AK3):c.1563G>A (p.Trp521Ter) SNV
Unknown		 Chr2:88585928 Pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 CA347594407 rs_1414649675

1 SubmittersRCV003467907
NM_004836.7(EIF2AK3):c.3234G>A (p.Glu1078=) SNV
Germline		 Chr2:88557853 Conflicting classifications of pathogenicity Condition: not provided
Wolcott-Rallison dysplasia		 Criteria Provided
Conflicting Classifications
 CA427172310 rs_2529086363

2 SubmittersRCV003563556RCV005036900
NM_004836.7(EIF2AK3):c.295C>T (p.Arg99Ter) SNV
Unknown		 Chr2:88626980 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 rs_2528308185

1 SubmittersRCV004575872
NM_004836.7(EIF2AK3):c.1292G>A (p.Trp431Ter) SNV
Unknown		 Chr2:88588775 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter
 rs_2529165321

1 SubmittersRCV004575878
NM_004836.7(EIF2AK3):c.1293G>A (p.Trp431Ter) SNV
Germline		 Chr2:88588774 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV004799096
NM_004836.7(EIF2AK3):c.2506A>T (p.Lys836Ter) SNV
Germline		 Chr2:88574977 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV005026789
NM_004836.7(EIF2AK3):c.2198C>A (p.Ser733Ter) SNV
Germline		 Chr2:88575285 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV005032432
NM_004836.7(EIF2AK3):c.1974G>A (p.Trp658Ter) SNV
Germline		 Chr2:88576616 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV005026796
NM_004836.7(EIF2AK3):c.1763+1G>A SNV
Germline		 Chr2:88583429 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV005026799
NM_004836.7(EIF2AK3):c.650C>G (p.Ser217Ter) SNV
Germline		 Chr2:88593389 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV005026810
NM_004836.7(EIF2AK3):c.308+1G>A SNV
Germline		 Chr2:88626966 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV005026811
NM_004836.7(EIF2AK3):c.1690A>T (p.Lys564Ter) SNV
Germline		 Chr2:88583503 Likely pathogenic Wolcott-Rallison dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV005399982