Total 48 pathogenic variants reported for Leprechaunism syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000208.4(INSR):c.1459A>G (p.Lys487Glu) SNV
Germline		 Chr19:7170561 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124213 rs_121913136

1 SubmittersRCV000015794
NM_000208.4(INSR):c.1177G>A (p.Gly393Arg) SNV
Germline		 Chr19:7172381 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124215 rs_267607184

1 SubmittersRCV000015795
NM_000208.4(INSR):c.2095C>T (p.Gln699Ter) SNV
Germline		 Chr19:7152862 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124217 rs_121913137

1 SubmittersRCV000015796
NM_000208.4(INSR):c.2770C>T (p.Arg924Ter) SNV
Germline		 Chr19:7132230 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124223 rs_387906538

1 SubmittersRCV000015800
NM_000208.4(INSR):c.779T>C (p.Leu260Pro) SNV
Germline		 Chr19:7184511 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124227 rs_121913141

1 SubmittersRCV000015804
NM_000208.4(INSR):c.707A>G (p.His236Arg) SNV
Germline		 Chr19:7184583 Pathogenic Leprechaunism syndrome Criteria Provided
Single Submitter
 CA124236 rs_121913145

2 SubmittersRCV000015808
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) SNV
Germline		 Chr19:7125482 Likely pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome
Leprechaunism syndrome
Hyperinsulinism due to INSR deficiency
Insulin-resistant diabetes mellitus AND acanthosis nigricans		 Criteria Provided
Single Submitter
 CA124245 rs_121913148

2 SubmittersRCV000015812RCV002496377
NM_000208.4(INSR):c.172G>A (p.Gly58Arg) SNV
Germline		 Chr19:7267825 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124247 rs_52836744

1 SubmittersRCV000015814
NM_000208.4(INSR):c.164T>C (p.Val55Ala) SNV
Germline		 Chr19:7267833 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124253 rs_121913152

1 SubmittersRCV000015817
NM_000208.4(INSR):c.338G>C (p.Arg113Pro) SNV
Germline		 Chr19:7267659 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124255 rs_121913153

1 SubmittersRCV000015818
NM_000208.4(INSR):c.442A>T (p.Lys148Ter) SNV
Germline		 Chr19:7267555 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124259 rs_121913155

1 SubmittersRCV000015820
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) SNV
Germline		 Chr19:7125507 Conflicting classifications of pathogenicity Type 2 diabetes mellitus
not specified
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Monogenic diabetes
Condition: not provided
Leprechaunism syndrome
Rabson-Mendenhall syndrome
Bailey-Bloch congenital myopathy		 Criteria Provided
Conflicting Classifications
 CA124262 rs_1799816

12 SubmittersRCV000015822RCV000175131RCV000344820RCV000445519RCV000515071RCV001132183RCV001132184RCV001258250
NM_000208.4(INSR):c.1316G>C (p.Trp439Ser) SNV
Germline		 Chr19:7170704 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124269 rs_121913158

1 SubmittersRCV000015825
NM_000208.4(INSR):c.438C>G (p.Ile146Met) SNV
Germline		 Chr19:7267559 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124271 rs_121913159

1 SubmittersRCV000015826
NM_000208.4(INSR):c.1372A>G (p.Asn458Asp) SNV
Germline		 Chr19:7170648 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 CA124275 rs_121913160

1 SubmittersRCV000015829
NM_000208.4(INSR):c.190T>C (p.Leu64=) SNV
Germline		 Chr19:7267807 Conflicting classifications of pathogenicity not specified
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Leprechaunism syndrome
Rabson-Mendenhall syndrome
Condition: not provided
Hyperinsulinism due to INSR deficiency
INSR-related disorder		 Criteria Provided
Conflicting Classifications
 CA241307 rs_144836032

6 SubmittersRCV000175554RCV000285456RCV000342749RCV000408261RCV000724825RCV003884376RCV004539629
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) SNV
Germline		 Chr19:7132162 Conflicting classifications of pathogenicity not specified
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Leprechaunism syndrome
Rabson-Mendenhall syndrome
Monogenic diabetes
Condition: not provided
INSR-related disorder		 Criteria Provided
Conflicting Classifications
 CA208959 rs_146588336

6 SubmittersRCV000194649RCV000286740RCV000382385RCV000341695RCV000445398RCV000725784RCV004530121
NM_000208.4(INSR):c.2736G>A (p.Arg912=) SNV
Germline		 Chr19:7132264 Conflicting classifications of pathogenicity not specified
Condition: not provided
Leprechaunism syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome
Hyperinsulinism due to INSR deficiency
INSR-related disorder		 Criteria Provided
Conflicting Classifications
 CA207510 rs_147125937

7 SubmittersRCV000193783RCV000733051RCV001132298RCV001132297RCV001132299RCV003884389RCV004541242
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) SNV
Germline		 Chr19:7150521 Conflicting classifications of pathogenicity not specified
Leprechaunism syndrome
Rabson-Mendenhall syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Condition: not provided
Monogenic diabetes
Inborn genetic diseases
INSR-related disorder		 Criteria Provided
Conflicting Classifications
 CA205599 rs_143523271

12 SubmittersRCV000192643RCV000306720RCV000363783RCV000391048RCV000725945RCV000664156RCV002517086RCV004530120
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) SNV
Germline		 Chr19:7141694 Conflicting classifications of pathogenicity Condition: not provided
Hyperinsulinism due to INSR deficiency
Rabson-Mendenhall syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Leprechaunism syndrome
INSR-related disorder		 Criteria Provided
Conflicting Classifications
 CA9135496 rs_76077021

5 SubmittersRCV000361037RCV000765478RCV004535276
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) SNV
Germline		 Chr19:7293851 Conflicting classifications of pathogenicity Leprechaunism syndrome
Rabson-Mendenhall syndrome
Condition: not provided
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Monogenic diabetes
Inborn genetic diseases
Hyperinsulinism due to INSR deficiency		 Criteria Provided
Conflicting Classifications
 CA9136191 rs_745857330

7 SubmittersRCV000365243RCV000308234RCV000726299RCV000408260RCV000664158RCV002518075RCV003884445
NM_000208.4(INSR):c.*2318G>A SNV
Germline		 Chr19:7114738 Conflicting classifications of pathogenicity Leprechaunism syndrome
Rabson-Mendenhall syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10643391 rs_80330850

2 SubmittersRCV000277328RCV000332479RCV000362645RCV003418043
NM_000208.4(INSR):c.2295C>T (p.Gly765=) SNV
Germline		 Chr19:7143063 Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans
Leprechaunism syndrome
Rabson-Mendenhall syndrome
not specified
Condition: not provided
Hyperinsulinism due to INSR deficiency		 Criteria Provided
Conflicting Classifications
 CA9135584 rs_142654992

7 SubmittersRCV000274691RCV000329846RCV000364627RCV000501683RCV000892971RCV003884484
NM_000208.4(INSR):c.909G>A (p.Gln303=) SNV
Germline		 Chr19:7184381 Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome
Leprechaunism syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Condition: not provided
not specified
Hyperinsulinism due to INSR deficiency
INSR-related disorder		 Criteria Provided
Conflicting Classifications
 CA9135985 rs_9282757

5 SubmittersRCV000295430RCV000348390RCV000386641RCV000882297RCV001821001RCV003884486RCV004544600
NM_000208.4(INSR):c.4082A>G (p.Tyr1361Cys) SNV
Germline		 Chr19:7117123 Conflicting classifications of pathogenicity Leprechaunism syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9135093 rs_13306449

2 SubmittersRCV000268051RCV000323071RCV000382182RCV003556347
NM_000208.4(INSR):c.2853G>A (p.Pro951=) SNV
Germline		 Chr19:7128944 Conflicting classifications of pathogenicity Condition: not provided
Leprechaunism syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome		 Criteria Provided
Conflicting Classifications
 CA9135426 rs_200564313

2 SubmittersRCV003718198RCV000263460RCV000318490RCV000377833
NM_000208.4(INSR):c.2280A>G (p.Lys760=) SNV
Germline		 Chr19:7143078 Conflicting classifications of pathogenicity Leprechaunism syndrome
Rabson-Mendenhall syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
INSR-related disorder		 Criteria Provided
Conflicting Classifications
 CA9135586 rs_373695282

2 SubmittersRCV000296507RCV000316404RCV000389081RCV004537836
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) SNV
Germline		 Chr19:7141786 Conflicting classifications of pathogenicity Leprechaunism syndrome
Rabson-Mendenhall syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
not specified
Inborn genetic diseases
Rabson-Mendenhall syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Hyperinsulinism due to INSR deficiency
Leprechaunism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9135511 rs_201466857

5 SubmittersRCV000267106RCV000320530RCV000380386RCV001820999RCV002521258RCV002504115RCV002521259
NM_000208.4(INSR):c.39G>C (p.Pro13=) SNV
Germline		 Chr19:7293853 Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome
Leprechaunism syndrome
INSR-related disorder
Condition: not provided
Hyperinsulinism due to INSR deficiency		 Criteria Provided
Conflicting Classifications
 CA9136192 rs_771984795

5 SubmittersRCV000311715RCV000368543RCV000403417RCV004544601RCV002057551RCV003884489
NM_000208.4(INSR):c.2117C>A (p.Ala706Asp) SNV
Germline		 Chr19:7152840 Conflicting classifications of pathogenicity not specified
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome
Leprechaunism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9135660 rs_142391704

3 SubmittersRCV000500908RCV001129887RCV001129888RCV001129889RCV002527259
NM_000208.4(INSR):c.225C>T (p.Asp75=) SNV
Germline		 Chr19:7267772 Conflicting classifications of pathogenicity not specified
Condition: not provided
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome
Leprechaunism syndrome
Hyperinsulinism due to INSR deficiency		 Criteria Provided
Conflicting Classifications
 CA9136151 rs_41352749

4 SubmittersRCV000500581RCV000923908RCV001130270RCV001130268RCV001130269RCV003884578
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) SNV
Germline		 Chr19:7142970 Conflicting classifications of pathogenicity Monogenic diabetes
Leprechaunism syndrome
Rabson-Mendenhall syndrome
Hyperinsulinism due to INSR deficiency
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Leprechaunism syndrome
Rabson-Mendenhall syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_78433961

5 SubmittersRCV000664155RCV000765480RCV001129802RCV001129803RCV001129804RCV002060806RCV002530623
NM_000208.4(INSR):c.653-9T>C SNV
Germline		 Chr19:7184646 Conflicting classifications of pathogenicity Condition: not provided
Leprechaunism syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome		 Criteria Provided
Conflicting Classifications
 rs_868296217

3 SubmittersRCV000727638RCV001130841RCV001130842RCV001130843
NM_000208.4(INSR):c.2793G>A (p.Ala931=) SNV
Germline		 Chr19:7132207 Conflicting classifications of pathogenicity Condition: not provided
Leprechaunism syndrome
Rabson-Mendenhall syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
not specified
Hyperinsulinism due to INSR deficiency		 Criteria Provided
Conflicting Classifications
 rs_111502197

4 SubmittersRCV000915560RCV001129563RCV001129564RCV001129565RCV001818861RCV003884803
NM_000208.4(INSR):c.624A>G (p.Arg208=) SNV
Germline		 Chr19:7267373 Conflicting classifications of pathogenicity Condition: not provided
Leprechaunism syndrome
Rabson-Mendenhall syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
not specified
Hyperinsulinism due to INSR deficiency		 Criteria Provided
Conflicting Classifications
 rs_759705666

4 SubmittersRCV000919170RCV001130845RCV001130844RCV001130846RCV001818865RCV003884804
NM_000208.4(INSR):c.575G>A (p.Gly192Asp) SNV
Germline		 Chr19:7267422 Conflicting classifications of pathogenicity Condition: not provided
Rabson-Mendenhall syndrome
Leprechaunism syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans		 Criteria Provided
Conflicting Classifications
 rs_143919163

2 SubmittersRCV000919816RCV001133814RCV001133815RCV001133816
NM_000208.4(INSR):c.489C>A (p.Ile163=) SNV
Germline/somatic		 Chr19:7267508 Conflicting classifications of pathogenicity Condition: not provided
Rabson-Mendenhall syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Leprechaunism syndrome
not specified
Type 2 diabetes mellitus		 Criteria Provided
Conflicting Classifications
 rs_530955658

4 SubmittersRCV000927016RCV001133817RCV001135304RCV001133818RCV001818887RCV002227228
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser) SNV
Germline		 Chr19:7150501 Conflicting classifications of pathogenicity Condition: not provided
Leprechaunism syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome
not specified
INSR-related disorder		 Criteria Provided
Conflicting Classifications
 rs_148838377

4 SubmittersRCV000979668RCV001133424RCV001134906RCV001133423RCV001819155RCV004543656
NM_000208.4(INSR):c.2829C>T (p.Tyr943=) SNV
Germline		 Chr19:7132171 Conflicting classifications of pathogenicity Leprechaunism syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome
Condition: not provided
Hyperinsulinism due to INSR deficiency		 Criteria Provided
Conflicting Classifications
 rs_376766937

3 SubmittersRCV001129560RCV001129561RCV001129562RCV002070511RCV003883558
NM_000208.4(INSR):c.1988C>T (p.Ala663Val) SNV
Germline		 Chr19:7163073 Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Leprechaunism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201034510

2 SubmittersRCV001130597RCV001130598RCV001133544RCV003769241
NM_000208.4(INSR):c.474C>T (p.Ile158=) SNV
Germline		 Chr19:7267523 Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans
Rabson-Mendenhall syndrome
Leprechaunism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_752803584

2 SubmittersRCV001135305RCV001135307RCV001135306RCV003769637
NM_000208.4(INSR):c.261C>T (p.Tyr87=) SNV
Germline		 Chr19:7267736 Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Leprechaunism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_145884847

2 SubmittersRCV001130266RCV001130265RCV001130267RCV002556831
NM_000208.4(INSR):c.632C>T (p.Thr211Ile) SNV
Germline		 Chr19:7267365 Pathogenic Leprechaunism syndrome No Assertion Criteria Provided
 rs_1967766760

1 SubmittersRCV001172282
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) SNV
Germline		 Chr19:7168028 Conflicting classifications of pathogenicity Condition: not provided
not specified
Rabson-Mendenhall syndrome
Hyperinsulinism due to INSR deficiency
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Leprechaunism syndrome
INSR-related disorder		 Criteria Provided
Conflicting Classifications
 rs_147671523

5 SubmittersRCV001355872RCV001820051RCV002486479RCV004545213
NM_000208.4(INSR):c.1610+1G>A SNV
Germline		 Chr19:7167967 Likely pathogenic Leprechaunism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003389275
NM_000208.4(INSR):c.2810C>T (p.Thr937Met) SNV
Germline		 Chr19:7132190 Likely pathogenic Leprechaunism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003389276