Total 48 pathogenic variants reported for Hyperinsulinemic hypoglycemia, familial, 4 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005327.7(HADH):c.773C>T (p.Pro258Leu) SNV
Germline		 Chr4:108033239 Pathogenic Hyperinsulinemic hypoglycemia, familial, 4 No Assertion Criteria Provided
 CA254309 rs_137853103

1 SubmittersRCV000008484
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) SNV
Germline		 Chr4:108027757 Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial, 4
Condition: not provided
Deficiency of 3-hydroxyacyl-CoA dehydrogenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA261133 rs_375717077

6 SubmittersRCV000032678RCV001781331RCV003460539
NM_005327.7(HADH):c.636+471G>T SNV
Germline		 Chr4:108024034 Pathogenic Hyperinsulinemic hypoglycemia, familial, 4 No Assertion Criteria Provided
 CA261136 rs_786200932

1 SubmittersRCV000032680
NM_005327.7(HADH):c.132+7G>T SNV
Germline		 Chr4:107990071 Conflicting classifications of pathogenicity not specified
Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
HADH-related disorder
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA205273 rs_534966818

5 SubmittersRCV000192445RCV001148478RCV001148479RCV004757159RCV003221350
NM_005327.7(HADH):c.456G>T (p.Gln152His) SNV
Germline		 Chr4:108019576 Conflicting classifications of pathogenicity not specified
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Monogenic diabetes
Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 4
HADH-related disorder		 Criteria Provided
Conflicting Classifications
 CA209330 rs_1051519

9 SubmittersRCV000194877RCV000764522RCV001086439RCV000664100RCV000757347RCV001143929RCV003907686
NM_005327.7(HADH):c.676T>C (p.Tyr226His) SNV
Germline		 Chr4:108027727 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Familial hyperinsulinism		 Criteria Provided
Conflicting Classifications
 CA207951 rs_146036912

5 SubmittersRCV000194052RCV001762415RCV005406924
NM_005327.7(HADH):c.21G>A (p.Gln7=) SNV
Germline		 Chr4:107989953 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA10616855 rs_886058980

2 SubmittersRCV000278031RCV000372649RCV003221351
NM_005327.7(HADH):c.240G>A (p.Lys80=) SNV
Germline		 Chr4:108009866 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia
HADH-related disorder		 Criteria Provided
Conflicting Classifications
 CA3037391 rs_748623569

4 SubmittersRCV000284074RCV000339159RCV003221353RCV003897785
NM_005327.7(HADH):c.*305T>A SNV
Germline		 Chr4:108034662 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA10616859 rs_3822294

2 SubmittersRCV000316039RCV000354558RCV003221951
NM_005327.7(HADH):c.-36C>T SNV
Germline		 Chr4:107989897 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037296 rs_746854470

2 SubmittersRCV000274359RCV000320124RCV003221300
NM_005327.7(HADH):c.*600C>T SNV
Germline		 Chr4:108034957 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4		 Criteria Provided
Conflicting Classifications
 CA10617676 rs_544321475

2 SubmittersRCV000266633RCV000324098
NM_005327.4(HADH):c.-102G>A SNV
Germline		 Chr4:107989831 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3037258 rs_182097151

3 SubmittersRCV000341903RCV000395285RCV003221295RCV002512078
NM_005327.7(HADH):c.72G>A (p.Lys24=) SNV
Germline		 Chr4:107990004 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037321 rs_781319494

3 SubmittersRCV000342506RCV000378436RCV003221352
NM_005327.7(HADH):c.*59G>A SNV
Germline		 Chr4:108034416 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA10619838 rs_529762487

2 SubmittersRCV000312670RCV000393352RCV003221949
NM_005327.7(HADH):c.662G>A (p.Arg221His) SNV
Germline		 Chr4:108027713 Conflicting classifications of pathogenicity Monogenic diabetes
Condition: not provided
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia, familial, 4
not specified		 Criteria Provided
Conflicting Classifications
 CA3037545 rs_76476980

8 SubmittersRCV000445511RCV000521350RCV001084606RCV000764524RCV001145824RCV001821213
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) SNV
Germline		 Chr4:108034293 Conflicting classifications of pathogenicity Monogenic diabetes
not specified
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Condition: not provided
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037655 rs_36030668

7 SubmittersRCV000445389RCV000502882RCV000865133RCV001653781RCV002481352RCV003221981
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) SNV
Germline		 Chr4:108027694 Conflicting classifications of pathogenicity Monogenic diabetes
Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Condition: not provided
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
not specified
Hyperinsulinemic hypoglycemia
HADH-related disorder		 Criteria Provided
Conflicting Classifications
 CA3037542 rs_140413151

11 SubmittersRCV000664101RCV000764523RCV000872937RCV001082981RCV001145823RCV001816664RCV003222089RCV003953224
NM_005327.7(HADH):c.100G>C (p.Gly34Arg) SNV
Germline		 Chr4:107990032 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia
not specified		 Criteria Provided
Conflicting Classifications
 CA3037327 rs_779135938

4 SubmittersRCV000816566RCV002470991RCV003221358RCV004782565
NM_005327.7(HADH):c.99C>G (p.Ile33Met) SNV
Germline		 Chr4:107990031 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia
HADH-related disorder
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4		 Criteria Provided
Conflicting Classifications
 CA3037326 rs_74428123

4 SubmittersRCV000875072RCV003221359RCV003967916RCV005400475
NM_005327.7(HADH):c.261+1G>A SNV
Germline		 Chr4:108009888 Pathogenic/Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357830905 rs_1398546361

3 SubmittersRCV000987461RCV001766803RCV003221307
NM_005327.4(HADH):c.-203A>G SNV
Germline		 Chr4:107989730 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037246 rs_376591232

2 SubmittersRCV001148371RCV001148372RCV003221311
NM_005327.4(HADH):c.-86G>T SNV
Germline		 Chr4:107989847 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037264 rs_528952923

2 SubmittersRCV001149932RCV001149933RCV003221312
NM_005327.4(HADH):c.-56C>A SNV
Germline		 Chr4:107989877 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037281 rs_770197760

2 SubmittersRCV001145595RCV001145596RCV003221310
NM_005327.7(HADH):c.-34C>T SNV
Germline		 Chr4:107989899 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037299 rs_748286204

2 SubmittersRCV001145717RCV001145718RCV004527414
NM_005327.7(HADH):c.159A>G (p.Val53=) SNV
Germline		 Chr4:108009785 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037380 rs_148846625

3 SubmittersRCV001148482RCV001148483RCV003221362
NM_005327.7(HADH):c.264C>T (p.Ala88=) SNV
Germline		 Chr4:108014433 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037416 rs_201324954

3 SubmittersRCV001150056RCV001150055RCV003221363
NM_005327.7(HADH):c.688G>A (p.Ala230Thr) SNV
Germline		 Chr4:108027739 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037549 rs_780574282

2 SubmittersRCV001145826RCV001145825RCV003222231
NM_005327.7(HADH):c.825T>G (p.Asp275Glu) SNV
Germline		 Chr4:108033291 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA357830329 rs_1736344235

2 SubmittersRCV001148595RCV001148594RCV003222235
NM_005327.7(HADH):c.*142G>A SNV
Germline		 Chr4:108034499 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA102861966 rs_560215584

2 SubmittersRCV001150163RCV001150162RCV003222236
NM_005327.7(HADH):c.*168A>T SNV
Germline		 Chr4:108034525 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA102861968 rs_532458283

2 SubmittersRCV001150165RCV001150164RCV003222237
NM_005327.7(HADH):c.*279C>A SNV
Germline		 Chr4:108034636 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA785080914 rs_1290272212

2 SubmittersRCV001144024RCV001144023RCV003222228
NM_005327.7(HADH):c.*335C>A SNV
Germline		 Chr4:108034692 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA102862047 rs_780532720

2 SubmittersRCV001144025RCV001144026RCV003222229
NM_005327.7(HADH):c.*377G>A SNV
Germline		 Chr4:108034734 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA102862080 rs_148809781

2 SubmittersRCV001144027RCV001144028RCV003222230
NM_005327.7(HADH):c.*383G>C SNV
Germline		 Chr4:108034740 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase		 Criteria Provided
Conflicting Classifications
 CA102862094 rs_550706321

2 SubmittersRCV001145932RCV001145933
NM_005327.7(HADH):c.*514A>G SNV
Germline		 Chr4:108034871 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4		 Criteria Provided
Conflicting Classifications
 CA102862161 rs_183594888

2 SubmittersRCV001145935RCV001145934
NM_005327.7(HADH):c.132+6C>G SNV
Germline		 Chr4:107990070 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037336 rs_772843585

2 SubmittersRCV001148477RCV001148476RCV003221360
NM_005327.7(HADH):c.133-15C>T SNV
Germline		 Chr4:108009744 Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinemic hypoglycemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3037373 rs_190144364

4 SubmittersRCV001148480RCV001148481RCV003221361RCV001664707
NM_005327.7(HADH):c.710-14C>T SNV
Germline		 Chr4:108033162 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia		 Criteria Provided
Conflicting Classifications
 CA3037611 rs_185267497

3 SubmittersRCV001145828RCV001145827RCV003222232
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) SNV
Germline		 Chr4:108034319 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4		 Criteria Provided
Conflicting Classifications
 CA3037661 rs_201772964

4 SubmittersRCV001761397RCV002540457RCV005023237
NM_005327.7(HADH):c.434C>A (p.Ala145Asp) SNV
Germline		 Chr4:108019554 Likely pathogenic Hyperinsulinemic hypoglycemia, familial, 4 Criteria Provided
Single Submitter
 CA357832737 rs_2477237537

1 SubmittersRCV002471463
NM_005327.7(HADH):c.710-822C>T SNV
Germline		 Chr4:108032354 Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia, familial, 4		 Criteria Provided
Conflicting Classifications
 CA3037583 rs_183387994

2 SubmittersRCV003221471RCV005412528
NM_005327.7(HADH):c.262-2A>G SNV
Germline		 Chr4:108014429 Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3037415 rs_138521550

3 SubmittersRCV003468307RCV005036809
NM_005327.7(HADH):c.132+1G>A SNV
Germline		 Chr4:107990065 Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia, familial, 4		 Criteria Provided
Single Submitter

1 SubmittersRCV005024929